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_6900
|
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?
|
Pathogenic; Recessive dystrophic epidermolysis bullosa
|
ACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACC
|
ACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCTCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACC
|
Task1_train_6901
|
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
|
AGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGT
|
AGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCTAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGT
|
Task1_train_6902
|
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.
|
Pathogenic; Recessive dystrophic epidermolysis bullosa
|
ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT
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ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACCGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT
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Task1_train_6903
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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 pruriginosa
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ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT
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ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACCGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT
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Task1_train_6904
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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; Nonsyndromic congenital nail disorder 8
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ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT
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ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACCGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT
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Task1_train_6905
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The variant affects gene COL7A1 (collagen type VII alpha 1 chain), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Transient bullous dermolysis of the newborn
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ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT
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ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACCGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT
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Task1_train_6906
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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; Pretibial dystrophic epidermolysis bullosa
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ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT
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ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACCGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT
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Task1_train_6907
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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; Dominant dystrophic epidermolysis bullosa with absence of skin
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ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT
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ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACCGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT
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Task1_train_6908
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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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ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT
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ACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACCGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATAT
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Task1_train_6909
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Consider this mutation in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this a benign change or a disease-causing variant?
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Pathogenic; Epidermolysis bullosa
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CCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGT
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CCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGGCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGT
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Task1_train_6910
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Given a variant located on Chromosome 3 and affecting COL7A1 (collagen type VII alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Inborn genetic diseases
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GACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAG
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GACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCTGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAG
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Task1_train_6911
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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?
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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GACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAG
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GACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCTGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAG
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Task1_train_6912
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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; Recessive dystrophic epidermolysis bullosa
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CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT
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CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCTGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT
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Task1_train_6913
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Consider a variant on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain). Determine its clinical classification and disease relevance.
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Pathogenic; Pretibial dystrophic epidermolysis bullosa
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CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT
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CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCTGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT
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Task1_train_6914
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Consider this mutation in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this a benign change or a disease-causing variant?
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Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin
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CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT
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CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCTGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT
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Task1_train_6915
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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; Transient bullous dermolysis of the newborn
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CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT
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CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCTGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT
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Task1_train_6916
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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; Epidermolysis bullosa pruriginosa
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CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT
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CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCTGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT
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Task1_train_6917
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The variant affects gene COL7A1 (collagen type VII alpha 1 chain), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Nonsyndromic congenital nail disorder 8
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CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT
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CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCTGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT
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Task1_train_6918
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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; Generalized dominant dystrophic epidermolysis bullosa
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CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT
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CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCTGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT
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Task1_train_6919
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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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CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT
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CACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCTGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTT
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Task1_train_6920
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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; Recessive dystrophic epidermolysis bullosa
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ACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTA
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ACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCACAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTA
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Task1_train_6921
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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; not specified
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ACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTA
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ACCGGGGCACCAGGTGGTCCAGGGTCTCCATGACCACCCTGTTGTGGCGAAAAAGAGTCTGATGAGGGGGAGTTAGCCGCACCCCACCAAGGAAACTGAGGCAGTACTGGTCACTGGGGCAGGGCACAGGATGGGGGCAAGACAGGTGAAGGTTCTTGGGTACTCACCACTGGGCCAGGGGGGCCTCTTGGACCCTGCAGACCCTACATAGAGAGGGCACTGATGAGCCTCAATCTGGGCCTCACTTGGGCCTGTTCCCAACCTCTGGGGGCTTTTTCCTTGGGGGTCAATTTCCATACCTCACCCTTTCCAGTCACAGATAATACCTACCCATGGACTGCCTCTCATAGATAGCACACACGGGCCTGCACACACACATCCACATACAACCACACACAGACACAGGCACACACAGGCACACACAGACACAGGCACACACAAGCAGGCACACACAGAGAGGCACACAGACACAGGTACACACAAACACACACACACAGACATGCACACACACAGCAGCAGCAGCACCTAGCGGAGGGTCCGGAGCCTGGGGCCAGGTGCTTCAGCCACCACTCACCGGCTTCCCTTCAGGCCCAGCCATACCACGCTCTCCTGGTAGACCCTGCAGAGAATAGGTTTAAGGCCTTAGTTTCCCAGTTCCAACTTCCCCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCACAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTA
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Task1_train_6922
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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; Epidermolysis bullosa dystrophica
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CCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTC
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CCTCCACCCACCATCCCCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCCGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTC
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Task1_train_6923
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This genomic variant is located on Chromosome 3, within the COL7A1 (collagen type VII alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Epidermolysis bullosa dystrophica
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CCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCCAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGG
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CCCTAGACAGAGTCAGGACCCAGACAGTCCCAGGCAGTACAGACCCCAGCCCTGCACACAGGACAATACATGTGAGAGCCACCTTCTTGCACATGTGTGGCTGTTGGGCAAGGACTTACCGGGTTGCCGTCCTGACCCCTCGGTCCAGGCTCTCCCCGGTCTCCTTTGATGCCTGGCACACCCTGAAGGCAGAGTGTCGTGCCCTGAGCCCCCAGTCCCTGCCACGTGCCCAGGTGCATATGCACACCACCTCTAGTGTGCCCCCAGAAAGGAGGGGGACTCTATGGAAGGGTGGAGAGAGGCCTCACCCTGTCTCCTTTGGGACCTTGGTCACCATTGCTGCCCGGCTCCCCCTGTGGGGATGAGATGTCAAGTCAGTCCCTAGTGCCATGGCAGAGGGTGGCCCCGAGCTGATTCCACACACTGACCTTAGCACCCTTGAGTCCAGGGGGTCCCTGTTCTCCAGAGAGTCCAGGACCTGGCTCATCCACAGACACCTACAAACACAAGGTCACAGGGGAGAGATGTCTCTGTCATAGAGGCATGGGGGAGTCATCACAGATCTCAGGATCACAGAGGGTTATAGGGTCAGAAATTCCAGGGTTATGGCACACACTACCATATTTCTGGGGACCAAGCTAAGGGTGGCTTCCTGGTCACTAGTCACAGGACTAAGGCAGGGATGGGGTGATCACCTTGGGGCCAGGGGGTCCGGGGGGCCCAGGGGTTCCAGGGAGTCCAGGAGGGCCATCTCTGCCCTGCAGGAAACAAGAAAATGGGGTGGCAGCCCCAGCACAGCCTCCAGACAGCCTGCCCCACGAAGCCCATCGCAGCCCACCTGTTCTCCACGTTCTCCTTTCTCTCCCCGTTCTCCCTGAAATGCAAATAGCGGGTGAGGGCCAAGCCCATGGGGGGTCCCACCCCTCCCAACCCCTCTTCCCTCACTCTCCTGGCCAGCCCCCAGCCTCACCCTCTCTCCTGGCCTTCCTGCCTCTCCCACACCCCCAGCCCTGCCTGGGAGCCCGGGAATACCAGGCTTTCCAGGCTCCCCGGCAAGGCCGGAAGGCCCGGGGGGGCCCCTCTCCCCAAGGGCCAGACCAGGTGGCCCCTGAGGGCCAGGGTCTCCACGGTCGCCCTTCAGCCCGCGTTCTCCAGGAAAGCCGATGGGGCCCTGCAGGAGTGGAAGAGAGAATGCTGGTGGCTGTACAGCTACACCCCACTCCACGGGGCACAACCCACTGAGCCACTTCTGCTCACCTCCTTGCCTGGGGGGCCCTGTTCGCCTGAGTCCCCCTTGGGGCCTCGACGCCGTTCGGGCACAGGCAGGAAGCTACCAGAGCTCTCATCCCAGGTCTCCACGATCTCCCGCAGGGCAGATGCCTGAGGGACAGCAAGAGGTCAGAGGAGCGGGGTGCGTCGCCGCAGCCCCTATGCCTGTGGGCACCACTAGCCCCAAGGGCCCCCACTTGTCCCTACCCCCAGCCCCTAAACAACCCACCTTGATGCCAGCAGTTTCCAGCAACCGATCCACATTCTGGGGACAAAGTCTGGGTGAAGGGCTGCCCATGACAGAGAAGCTCCTGCCTTCTGCCCCGCACGGCCTCAGGAAAGCACCTTCACACCCTTTTCCCTAGGCCTCTTGCCCAGAGCACCCTTTAGCACTTGGTTGAGGCATGGCTGGAGACTCCTGGGAGCCCCTTTCTGGTGTGTCCCCACTGCCCAAGTTCCCTTGAGTGTGGGCTACAAGAACCCCAATGGGGCAGGGCACTGAACACACAGCACAGAACCTATGGAGCCTCATGGCAAGGGGAAGGGGATGGCAAGGTGGCCCCAATGGGCATGCAAAACAGAGTCAAGGGGACATCCCAAGCCTGGCTCACCGGCACACTTCCAGGCTCTCCTCGCAGGCCACGCTCTCCAGGGAGGCCCTGGAGAGATGAAGACAAACTGCTAGGAACCAGCCTATGGGTGTGCATGTGCACATGTGGGTGCTGTGGCTACCTGGGCATGTGGAAAAGGTGGGGGCCTCACCTGCTCCCCTTTGGATCTAGTCTCCCCACGGTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGG
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Task1_train_6924
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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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GTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGG
|
GTCACCCTGAAAACAAGAATGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGTCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGG
|
Task1_train_6925
|
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?
|
Pathogenic; Nonsyndromic congenital nail disorder 8
|
TGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGT
|
TGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCTACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGT
|
Task1_train_6926
|
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; Recessive dystrophic epidermolysis bullosa
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TGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGT
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TGACCAGGTGGGGAAATGGCCCCCAGCCTGGTCAGCCCCCTCACCACGCCCCCTACCCAACATCCGCACTCACCTTGGGGCCCGTGCCTCCTGGGACACCAGGAAAACCCTGAGATACGGCAGAACACAAAGGGGTCACAAAGGCCCATGGCTTCCCAGGAGGGTTGCCCATTGAAACATCATGGCTTCTAATGCTCTGAAGTCCCAGAATGACCCAGGACACTCACCTGGCCAGGAGGGCCCACTGGCCCTGGGAGGCCTGGAGGCCCCTGGGGTCCAAGGATACCAGGAGCTCCACGCTCACCCTTGGGGCCATCACGACCCTGTGAAGGATGCAGCCAGCATCAGCACCCTGAGACCTCAGAAAAGAGTGGAGTCATATTCCCCCAGGGTCAGGGTCAGGGGTCAGAGGTTGCAGAAAACTCCAATACTCACTTCTCTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCTACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGT
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Task1_train_6927
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This gene mutation involves COL7A1, MIR711 (collagen type VII alpha 1 chain| microRNA 711) on Chromosome 3. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Epidermolysis bullosa dystrophica
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CTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAG
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CTCCCAGAGGCGCCTGAATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCTAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAG
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Task1_train_6928
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This variant affects the gene COL7A1, MIR711 (collagen type VII alpha 1 chain| microRNA 711) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Epidermolysis bullosa dystrophica
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ATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAA
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ATCTCCTTTCTCTCCCTAAGGAAGACAAGGATGCTTCAGGCATGGCTCCAAGCAGAGACCAGAGAGACCCCAGGTGGGGGACTTTACCTTCCTCCCGTCTTCTCCAGGGTCCCCAGGTTCTCCCTGTGGGCAGAGGACTCACATCAGCCCAAACATTCACTGGTGTCTGGCTGCAAGACACTACCTTGCTAGATTTCAGATGACTGTGACTGTATTTCTGTGCCTGTAGCTCCATGGTTGTGTGTGTCTTGGAGCATGGCCTGTGGCCGTCTGAGTGAGCTGCTACATGTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCATCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAA
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Task1_train_6929
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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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GTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTG
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GTCTAAGGGTGTGCCTGCATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCTGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTG
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Task1_train_6930
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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; Epidermolysis bullosa dystrophica
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CATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCA
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CATAGGCCTGCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCTCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCA
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Task1_train_6931
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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; not provided
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GCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCC
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GCTCACCCCAACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGAACCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCC
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Task1_train_6932
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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
|
AACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCA
|
AACAGGCAACTGCACACATGTCCTTTGACTCTGGCTCTCTAGAGGTAGCTCCACATTTATGCATCTCTGGGTTGGTGATCGTCCACATGTCCTGGGTGTGTGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCATCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCA
|
Task1_train_6933
|
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?
|
Pathogenic; not provided
|
TGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGG
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TGCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTTCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGG
|
Task1_train_6934
|
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.
|
Pathogenic; not provided
|
GCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGT
|
GCATATCCATGTGTGTCTTAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCTTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGT
|
Task1_train_6935
|
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?
|
Pathogenic; not provided
|
TAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTA
|
TAGTACATGTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACTTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTA
|
Task1_train_6936
|
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?
|
Pathogenic; not provided
|
GTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGG
|
GTACCCATGGGTCTGTGTGTCCTGGTCTGTTTGCACATCTTGGCCCATGTCTGCATATGGGCATGGGCTTATACATGTCTCCAAAGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCACCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGG
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Task1_train_6937
|
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; not provided
|
AGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCAT
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AGAGCATGGGCTTATACATGCCTTGAGAGCCATGTGTCTTGGCATCTGTCTGCAACTCTTGTGTGTAGCTCAATGTGTATGACCATAAGCGTGTGGGTGACCATATAAAGTCATGGGCCAGCATGTCCTAGCACATGTCACAGGTCAGAGCCATCCATGTGTGTCTCACCATGTCTCAACACAGGTCCACATGCGGTCTTGGGTCCATGTCTTAGCACATGAGTCTGGGTGGAAGTGTCTGGGTATCAACATGTCTCTAAGTGCCCCAAATGTGGCTACACACCAGTGTGTTTGTGCCTGTCGACCTGTCTGTGGCTCTTCACCTGTGCCTATGGCTGTGGGTTATCTGGGCATGTGTCAGCCCATCCTGGCATAAATTGGCCCATTCACCTAACTCCCTATGTGTCTGTGAGGCTGCCTGTGTGTGCATATAGAACTATGTTTCCAGGCCTGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGTTTGTGATCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGTCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCAT
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Task1_train_6938
|
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; Nonsyndromic congenital nail disorder 8
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TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG
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TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTTCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG
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Task1_train_6939
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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; Transient bullous dermolysis of the newborn
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TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG
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TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTTCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG
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Task1_train_6940
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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; Recessive dystrophic epidermolysis bullosa
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TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG
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TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTTCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG
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Task1_train_6941
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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; Epidermolysis bullosa pruriginosa
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TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG
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TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTTCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG
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Task1_train_6942
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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; Pretibial dystrophic epidermolysis bullosa
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TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG
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TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTTCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG
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Task1_train_6943
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Consider a variant on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain). Determine its clinical classification and disease relevance.
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Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin
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TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG
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TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTTCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG
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Task1_train_6944
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A variant found in Chromosome 3 affects COL7A1 (collagen type VII alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Generalized dominant dystrophic epidermolysis bullosa
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TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG
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TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTTCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG
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Task1_train_6945
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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; Recessive dystrophic epidermolysis bullosa
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TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG
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TACTAAAAATACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTTCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGG
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Task1_train_6946
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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
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ACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAA
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ACAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGTTACTCGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGTCGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACTATGTTTCTGGATGCATCTGTATGTCTGGGCCAGGATGCATGTGTCTACACGTGTGCCTCATGTGTTGCTACAGATCTTGGCTGTGTAGGTGTGCTGGCGTTTCTTGGCAGGTTTCGCCGCAGCTGCCCTGGACACACTCACGTTTTTTCCATTCAGGCCAGGTTTGCCATCCTCGCCTGGCTTTCCCTGTGGGAACAGATCACTGGTTGGATGTCGGGGATCGGGTGAGGGTAGTAAGGGGGAAAAGGGGGTAACATGAAAGTCTGGTCTCACCGGTAATCCAGGGGGACCAGAGGGGCCAGGGAGGCCCTGTTCTCCACGGAGGCCTGGAAGCCCCTGGAAAAAGTCTTTGTTAAGATTTATAGGGCCTCTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACGCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAA
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Task1_train_6947
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The variant affects gene COL7A1 (collagen type VII alpha 1 chain), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; not provided
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CTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCT
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CTGAGATATCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCTAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCT
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Task1_train_6948
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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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TCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCC
|
TCCCTTGGGGCACACCCCATGGACTAAGAGGACCCCAAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTTCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCC
|
Task1_train_6949
|
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.
|
Pathogenic; not provided
|
AAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGT
|
AAAAAGATCTCCCTCCAGGGTAGAGACCCCCAGGACTGAGAGGTCCCATTGAGATCCCTCAGGCACAGACCCCATGGATGGGGGCCCCTGCTGAGACTCCCAAGGGAAGAACCCCCAGGACTTGGAGGGCCTATGAAGACCCCCAAGGCAAAGAAGGTCAGAAAGGGGGATTCTACTAAAACCTGTGTGCCAGGGACTGAGACCCTCCCAAAGGCAAGGCTGAACCGACCCCCCACCAACTCTCTCGGATGCTGTGACTATGATGATCTGGTTGGAGCTTACGCAGCCCCGAGCCCCCTCTGTCCCAGCATCTCCCCTCACTTACGTCTCTCCCTGGGTCCCCAGCTTTGCCTGCAGCACCCTGAGGAGAGACTCAAAGTCAGTTCATCATGGTCATGGGGTCAGGGGCTCTAGTCCCTGTGAGCCTAAGGCCTGCATGGCAAGAACATGCCCCACCCAGGCAGGGCTCTGGGAGAAGACACAGACAACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTGCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGT
|
Task1_train_6950
|
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?
|
Pathogenic; not provided
|
ACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAA
|
ACAGGTCTCGCCCCAGAGCTCGTCAAGGCCAAGACCAACCAATGAGGCTGGGGTCTAGGGTCCTCATGTGAAGGGGTAGGGGAAGGGGACAACCAGGCAGGACTACCAAGACTCACATTCGGCCCAGAGGGCCCAGCGGCTCCTGGTTTCCCATCCAGTCCGCTCCGGCCATCCAGCCCAGGGGGACCCCGGTCACCCTGTGGAAAATAGAGTGGTAAGAGGCCACCAAGGCTGAGGTGGATCTGATAACCCAGGCTCATGTCCTGAGAAACCCCCACACCCTCTCACCTTTTCTCCTGCTGGGCCTCGGACACCTGGGTCCCCCTGGAGGGAACAGGGTCAGATAAGAGGTGAGGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGATCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAA
|
Task1_train_6951
|
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?
|
Pathogenic; Nonsyndromic congenital nail disorder 8
|
GGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATT
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GGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACGCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATT
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Task1_train_6952
|
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; Recessive dystrophic epidermolysis bullosa
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GGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATT
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GGGTAAGATGGGGACTTGGCAGACGGGGCAAAGTGCATCACTCACCTGTGGGCCTGGGGGTCCCCGAAACCCTTCAATGCCCTGAGGATAGGGGAGGAAGAAATCAGAGCAGGCCCTCCCATGCCTGCACCCCCGAGGACCAATCACACTCACCCTTTCCCCAGGGGCTCCAGGGAGGCCAGGATCACCCTTGGGCCCTCGAGGACCCTCTTGTCCGCGGTCCCCAGGCTCTCCCTGTGGCAGAGATAAGCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACGCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATT
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Task1_train_6953
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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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GCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGAC
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GCTTGCTGAGGAACAGCCTTGAAGCCAAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCTTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGAC
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Task1_train_6954
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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; not provided
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AAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATG
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AAGCCATGCCCAAGGTAGAACCTGCTGGGAGGGGCACTGGGGTCTTTCTTACCCTCCACCCACAGACCCTAATACCTTCTCTCTGGCTCCAGGTCCTGTGTCTACCTGTGGGGGGAATGACCAGTGAGAAGAATGGCTCAACAAGGGGAAGAGGAGTTGGCGAGGGGATACAGGGTCTGTGAGGGGCTCCAGGGATCCGCGGAGGTTTCAGAGGGACAGTGGGGGAAGTGGGAGTTAGTGGAAGGAATGAGGGGACATGATGTGGAGCCAAAGGGGCAAGTGAGAACAATGACAGAGGACCAGACCCAGCGCAGCCCTTACCAGCCGTCCCGGGGGTCCTGGGGGACCCTGGGAAAGGAAATGATTATAGTCAATAGGAGCCCTCAGGTCCCAGGCCATGGCTCTGGTTTGCCCCAGGCTCAACTCTGCCCCCAAGTTCCCCGAAGCACCCCAATGCCAGCCCCCAGCAGGCATGGGTGGCCATCCATGCTTCCCACCTGGACCTCCAGACCCCTTGTGTGAAGGCACACTGGCAGCAGCGCCAGGGGACCCTCCATCCCTTCTGAGCCCAGGACACCAGCCCTACTCACCGGCTCCCCACGGTCACCCTTGGGTCCAGATGATCCAGGGCTGCCCTGCAGAAAGGCAGGGGTCAGGGCCACTCAAGGTAGGCAGCAGTTTGGGAGAGCTTTGGAAGCACCATGAGGACTCATGGGAATGTTGGTAGCCTTCAGATGCGTGTGTGCAGGGGTCAAAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTTCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATG
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Task1_train_6955
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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; Transient bullous dermolysis of the newborn
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AAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTG
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AAGGAAGTGAAGATTGGGAGGGTTTAGCATTACAGGGTTGGGGGGTAGGATCAGGTATTGGGAATTGGCTGGTTGGAGGGTTAAGGTTGGGGTGAGGAGTCATAGGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCTCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTG
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Task1_train_6956
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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; Transient bullous dermolysis of the newborn
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GGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCAC
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GGCTGGGACTCACATTTCGTCCATCCTCTCCAGGATCTCCCTGGTCTCCCTTTTCACCCACAGGCCCCCGAACTCCAGGTGCCCCCTAAGAAGAGCAGCTGGCCTGAGACAGACCCTCCCAATATTTTGCAGGTGCCCCTATGACCCGCTACACTGCCCCAGGTTCCCCATTACTCCAAAATCCACATCAGAGGTTCCCATCACCCCATGCCTCCCTGCAGGGACTCCCATCACCCCTTACCCCCCTCAGCCTTTCCTATCACCTTCATGCCCACCTCCCATCACCCCTGTTACTTCTCTCTGCCAAGACTCACCCGAAGGCCACGCTCGCCTGCTTTTCCAGGCAAACCCGGGTCACCCTGGTGATAGAGAGAAAAGTCATACTGCACAGGGCAGTCAGGATCTAACTCACTCAGGGAGAGGGGACAGAGAAGGGTCTGAGCAGCAGCTGGACAGGAGGCAGGGAGTGGATGGATGAACTGGTGGAGCACCAGCCTACTGGGATCCTAGTTCAAGGGTAAAGGATCAGAAACCACAGTGGGAAGGAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGATCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCAC
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Task1_train_6957
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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; Pretibial dystrophic epidermolysis bullosa
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GAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCC
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GAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGTCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCC
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Task1_train_6958
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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; Recessive dystrophic epidermolysis bullosa
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GAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCC
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GAGTCTCACCGGAGGACCCTCGTCACCTTTCTCTCCAACTTCACCCTGTGAAACATGAGAGTCAGCCCTGGTTCCAAGAACCCCCATGATGCTGGCAACAGCCCTACTCCCTTACCCGCCATGACTCCCCCGACTCCAGCCTCTTACATCTCGTCCTCGGGGGCCAACAGGTCCTGGGGGGCCAGGCCGCCCAGGGTCTCCCTTCTCTCCAGGAGGCCCTGAGTCACCCTGTGGAGGAGGCAAGAGGGAGGTGATGCAGGACGCTCGAAGCAAGCAGTTCTCAAGGGGAGGGGACCCCAGAAGCCTTGAGGTTGCCCAGGGTAACGGGTACTCACTGGGGGTCCTGCTCTGCCAGTAAGGCCAATGGGACCCTGAAGGGGACAGAAGGGGGGCAGGACTTAGTCAGGGTCCCACCACCTCATCTCCCTCTGTCACACTCCCCATTCCCACATTGATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGTCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCC
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Task1_train_6959
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Consider this mutation in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this a benign change or a disease-causing variant?
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Pathogenic; Epidermolysis bullosa dystrophica
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GATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGG
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GATTCACCCGGTCTCCAGGGTCTCCCTTGGGGCCAGGGTCTCCAGGAAGAACCAAGCCGGGTGGGCCCTGTGGATGGAAGGATAAGAAGTCAGGAAGACAACCTTCACCAACTGCCCCCTAAACACTTCGCTTCACTTACCCGTTCCCCTTGGACTCCGGTAGCTCCTCTGGGCCCAGCGGGCCCCACATCTCCCTGGAGGTGACAAAGACCATCAGTGCTAGTCCCAGGCTCCAGTTAACCCCCTGACCCAGCAAGTCCTGTGACCCCCCAAGTCCCATAGATAGGCCCTATGACCTAGACCTCAACCCTGTAGAAACCTCCCCTTGCCCCATACCAGGCTTACCTTTTCTCCTTTGGGTCCAGCAACAGCAGGTCCCTGAAAACAAACAGGACAGATACAGCTTGGCCCTGCCTTGGGGTTGTATGATCAAAGTCTTCATTGGAATGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCATCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGG
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Task1_train_6960
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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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TGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGG
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TGGAGGTCACATGGAATTGGAAGTCATACAGCTCAGTCCCCGCCCAGAAGTCACAGAGTCACCGCTGACAGCAGGGAAGGGGTTATACAAAATGGACTGACACAAAGAGCTCATGACCTGCATGGCGGTCTTGGGGTCACAGGATCATAGCCAAGAGTCTGGGGGCAGGTTCTAGCAGAAGGAGAGCCGCAGAGCTCCCAGCCTGCTCACGGGCCCAGCACTGTGGAATCACAGCCCAGATAGTGTTCTATAGGAGGGTCACTGCTCAAGGGCTGTGCTGTGCTCAGAGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACTCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGG
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Task1_train_6961
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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; Epidermolysis bullosa dystrophica
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AGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAG
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AGCGCCATCCTCCCGTCACTCACCACCACTGCAGGGTCCCCAGGGCGACCAGGCTCCCCCTGTGGAGAGAGGATAGGAGCAGGGACAGGTCAGGGAGTCACCTAGGAGCCCAAAATCCCAGTGTCCCATCTGCCACATCCCTAGTACCAGACAGTGCCACCCCCAGCCGAGGACCCACCTTCTCTCCTTGGCGGCCAGTGGGTCCTGGTGGCCCCTGAATGTAGAGAAAGTGTGAGCCCAGGAGGGGAAGGGAAAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAACCCCTGGCAGCCCCTGGAGGAGAGGAAGGGAAGAGCTGTGCAGGTGGGTGGGGACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCTCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAG
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Task1_train_6962
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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; Recessive dystrophic epidermolysis bullosa
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ACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCC
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ACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCACTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCC
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Task1_train_6963
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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?
|
Pathogenic; not provided
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ACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCC
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ACGGGGGATATGGACAGACAGGGCTAGAGGCTGGGGTGGGGGCTGGAGAGGGGTCAGGGAAGATTGGGATTTAGGTTGGCAGGGGTAAGACTTGGCAGGAGAACAGAGACCAGGTCAGTGAAAATCAAGGTCAGTTCAGCAGGGTCAGAGGTTCAAAGCCAGGTCCCTGGGGCTGAGGGTTAGAGCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCGCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCC
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Task1_train_6964
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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?
|
Pathogenic; Epidermolysis bullosa dystrophica
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GCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCT
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GCCTGTATCAGCAGGGATAAGTGGTCATTGAGGAGGGGTGAGGAGCAGGGGTAGCAGGGGTCAAGGGCAAGAAGTCAGAACCAGAAAGGGCACAGCCAGGTCAGCTGGTATGAGCATTGCAGCCAGTGGGTTTACCCGGGATCCCGCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGTCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCT
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Task1_train_6965
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This genomic variant is located on Chromosome 3, within the COL7A1 (collagen type VII alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; not provided
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GCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCCGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCTCCTCGTAGCCTCCGCACGGTGAGCATTGTCTTGAGTGGCATGTGGTAGGAACACCACATCCGCCAGGCCACGGGGGCACACTGTAGGAAG
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GCTGGGCCTGGGGGTCCACGTTCGCCCTGATGGAAAAGAAGAGGTCAGAGCTGAGTTGGGCCCAGATCCTCCAGGGCCCTTGGCACCCCCCAGGTTGCACTTACCTTCTCTCCAGCCTCACCCAGGGGCCCTGGAAAGCCCCGGTCACCCTGAAGAGAGAGGGTGAGAGAAAGACAGAGAGAGAGAGGGTTGGTGGCGGGGCTTGAACGTCAAACCCCAGACAAGGGGTCCCAAACTCCAACCACCCCCTCCAAAACCACGACCTCTGACCTGGAGGGAACTCTTATCTCCTTATCTTCCAGCCTCCCCTAACACCATGGGGAGCCCAGAGTAGCACCCCTCACACCTGAATCCCCCAACTGGTACTCACTTTGGGGCCAATAGCTCCAGGAGGTCCCCGTGGGCCCTGGAAGGGATGAATTTGGGGGTTCAGAGATTTGGGTTTGGGCATGAGGATGGAGCAGTGGTTGATGATTGAGGTAGGGGCTGGAGCTGTGCCCACCATATTCAGAATCCCTGGCCCCTCCACTCACCTGCTCACCCGGAGACCCAGGTTGTCCTGGGAGGCCTGGAGCTCCATCCTCAGAGTCACCCTGAAGGAGAAACACACGGGTGGGAAGACCGAAGGGAGGCCCTGCCCCCAGCACGCAGCCTCCCACCCCAGAACTGGGACATCATCAAGTCAGCCTTCCTACTTTTTCTCCTTTCTTTCCAGGGGGGCCAACGGGGCCTTGGGGTCCAGGGCTTCCGGGAAGACCCTAGGAAGAAGTGAGTAAAAATATGAGCCAAGAACTATGAAGCCCAGCACCCAACCACTGCCCCAGGAGAGACCCACACCCCTGAGCAGGGCCCCCAGCAGAGCCTCAAGGCCCCTCACCGGCAGCCCAGGCTCCCCAGGAGCAATGCCACCTTCACCTGGTCCAGGGGGACCCTGGGAGAGAACAGCAGGTCAGGGAATGAACAGGGGAATCAGACTCCAAGCCACCCCTAGCACAACCTGTCCCTCACTTACCCGCTCCCCACGATCGCCTTTGTCACCCTAGAAAACAGATGACGACCCCATGACCCTGGGCCACACCTCACTCCCAAAGATACCAGGAGTGATGAGGGTCATGGGGTCCAATTGGATTTCAAGGATTTTGGGAGAACTGAGGCGTCATGGTGAGGATGGGGGTAATCAAAGGGTCACAAGGGCCAGAGTAACTGGCAGGGGTTATGTGGGTTCAAATGGGGTCACCAGGTCTCTGCATCACATGGCACTCATGAGGCTGTCACCTTCATGGCTGTTCCAGGAAGCCCTGGGGGGCCACGGGGTCCTGGGTCCCCCAGTGGTCCACGAGGTCCAGGGGGGCCCTGATGGAGGAGACAAAGTATAAGGTGCAACCCCACAGACCTCACTCTCGCCCCCCTCGTGTTGGTCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGGAAGAAGCCCCTAGACATGTCCAGCTATTCCTATTCGCGCCTTAGGCCCTGCACAGGGTCTGGTGTGGGGCAGTCCTGCTCCTCCCTGGGACATCCCGGCCGCCTCCCTTCCCCCTTCACCTACCGGCTCCCCCTTTGGGCCTCGAGGTCCTCGCTCTCCCTGAGGACGAAACAGAGCAGAGGGTGGTGCTTGGGCTCAGGCGAATGTCAACGTGGGCACTGCACCACCACCCCAGGCTCCCACCCTGTGGAAGAACCCTGGGAAGACACTTAGAGAGCAAAGAAGGGAAGGCACCTTACCGGGTCCCCACGAGGGCCAGGCAACCCTGGAGAGCCCTGCAAATGGAGGCCAGAGGCAGAACAGTCGGAGCCACCCCACCCACTCAGGCAGCGCCCACCCTGACCTGCAGGACAAGGCTTGCTCACCTTTAGGCCAGGGGCTCCAGGGGTCCCAGGATTCCTGGCGCGGCCAGGGCTGCCTGGACGCCCATCTGCTCCAGGGAAGCCCTGAGGAGGTGAAGAGGTCAGGACAGGAAGGGACCCTCCCCCAAGGCCCCTGGTTTGCTGGAGGGGCCTCACCCCATCAACAAGGGGTCGCCTACCCCACTGACCCCCAAGTGTTATTGGGGGTGGAACAGTGAGGCAGAGAAATGGCCCCTCAGAGCTTCACAGAGCCCAATTCCAGGCACAAGGGCAGCGACAAGGCAGAGGGCTTCCCTGCCTCTGGGACTTGGAGCTGCTGCTCAGGCTCTGCAGCGGGGCTAGAGGCCCCACTGGCCCTTCTATTTCAGAGTGTCCCCCAAAGTCTCTGTGGTGGTTTATAACCTCCAGCTGGGCTTCTAGGAATTCCCGATGATTCTAACTCTGCTTCTTCCTTCTCTCTTGTAAAAACCCCGAGACAGCTTTGAGGAGTGCCTCAGAGAAACCTCGATGGTCTCCACACTCACCCTCTCGCCCTTGGCAGTGGCACTTCCAGGGGGCCCCTGGGGGCCGGGAGCACCGGTCCTGCCCTGAAAGAAGATAGCAGTTAGGTGGGGATAAGCCAGTCAGGGTGCAGGGACAGATGTGGGGGACACTCACCGGGAGGCCAGGGTCGCCAGGAGGCCCAACTTGTCCTCTCAGGCCCTAGGAAGGGTAATCAGTGAGACCTGTGCTGCCAACCTCTCCTGCCCCACTGACACTCAACCCATTCTCTATTCCCCGCCCGCAGGGGCACTCACCATCTCTCCAGGTTCCCCCTTCTGGCCCTGGGGAAAGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCTCCTCGTAGCCTCCGCACGGTGAGCATTGTCTTGAGTGGCATGTGGTAGGAACACCACATCCGCCAGGCCACGGGGGCACACTGTAGGAAG
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Task1_train_6966
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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; Epidermolysis bullosa dystrophica
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AGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCTCCTCGTAGCCTCCGCACGGTGAGCATTGTCTTGAGTGGCATGTGGTAGGAACACCACATCCGCCAGGCCACGGGGGCACACTGTAGGAAGGGGAACAAGTTACTGAAGCGGGCAGCCCACCCAGACACACCTTTCTGCCCTTCCCACTACGCCCACTATACCTGGCGTCTGTGTGACAGATGCCTCAGGACCCCGCACACCATCCAGGACAGGCGTCAGGGAGAAGATGTAAGAGACGCCAGGCTCTAGCCCTGTCACCCGCTGGGAGCTTGAGATCCCTGGAAGTGTCTGCGGGGACCCAGGCACTTCTGCAGGAGACAGAACTTGATTAAAAAGCTGTCTCCACAGAGCCCCAACTGCCAGCCCACCCAAATCCTGGCCTCCCCCTCACCCTGGCCAGGGCCTCTGAGTGGCCGCCAGGATAGGATGTAGCTGGATGCCCTGGACACTGGAGTCCAGGCCAAAGTCACCGAGTCGATCGAGGTGTCCACCACACGTAGTTCAATGCTTGGAACACGAGGTGACTCTGAAGGAGGAATGAAAGATCGAGGATCAGAGGCTGAGTCCTGAGAACCCAGAAGGGAGAGATCTGAGATCCTGGGTCCGGTTTGTCTTATTGAAGCATCATGGGAGGTCATGCTGGGGTCACCCAGGGTCAGAGGGTGAGGGGTAGGGGTACAGGAGGAGTCACTCAGAGTCGGGGTGCAGGAAGTCAGGGTGGGTCATCAGCAGGGGAGGAGCACGCCAAGGTGAGGCAGGCTTACCAGTGCGCGCAGTCACCTCTGCAGAGGGCCCTTCTCCAGCTGGCCCTAGGACACTCAGCCTCACGCGGTACTGTGTCGCTGGCTCCAGCCCGTCCAGGTGATAGCTGCTGAGCTCGGGCCCCAGGACCCGGGACTGTTCCTGGCCACCTGGGGCAGGCGTGAGGGTGGGGGCCAAGAGCATGTGGGATAGTGACACCTGGGGGCATTAAAGGGCCTGCCCACTTCACTGGCTCTGTTAACTGGGTTCACCCTCCTGACTGATCTTCCTCATCCTCACTGACCCTGCCCACTTTACGGACCCTGCCAGACTGACCCTCCATGAACTCATTGATCCCACCCACTTCATTGATTGATCTTACCTACTGTCACGGATCCCGCAGACCCCCAGTGACAGACCCCGCCCACCATCACTGTCCTCGCCTACCTTGCGGAGTCTGCCACAGCCCTGCCCCCAATGGTCCCTAACTTCCTCCTGGGGACACCTCTCACCCTCAGGTTGCCAGTGCAGAAGGAAGCCCTGCGCTCTGGGCACCGGCTCCCAGCGCAGCCTCAGCGAGTGCTCCCCGCGCTGCACCACGTGAAGCGTCCCCAGGGCTGGCGGAGCCTCAGGCGCTGGAGAGAAAGCTCAGGAATCAGGGAGGCTCTGCCCCCATGGCCCCTGCACCAATCCCAGGCCCACCCTGGCACACGCACCCCGCCCAGCCTCTCAGACCCCTCTCCCTCCTCTCAGACCCTGCCCCCAAAGGCTCACTACCAATCCTGGTCCTTTCTCCAATCCAGAGCACAAGCCCGGATCCCCAAACCATCCACACCACCCATCCGAAGCTCTCCAGCGCATGCTCTGCCTACGCGTAGTGACAACAATGGAGACAGGTGTGCCCTCGCGGTCCCCGACAAGTGCAGTCACTCGCACTGAGTAGCTGACTCCACCTTCGAGACCCCGGATCTCTGCAGAGTCTGTGTTTCCTGGGAGTATCTGGTGCCTCATGGGGCCGCCTGGCCAGGTGGGCATACAGCAATGGTTAGGGGTGAGCAGTCCCAGCCAGGAAGGACAGGGGTGGCGTCAGGGAGCCATACCTTCACTCCGGCCCCAGGCCAGTCTGTAAGCTGTGGCTCCAGTGACCCCTACCCAGGTGATCCGTAGAACGTCGCTGGAAGCATTGAGGATCTGCAGCCTCGACACACGACCCACAGGCTCAGGGGCTGGGGACAGAGGCAAGGTAAGGGGTCCTGGTAGAGAACAGAGAGGCAGTGCAGGAATGGTTGACGCAGGGGTGATCTGAAAGTCAGTGTGAGGTTAGTGTGGACAGGTCACTTTAGGCAGCCCTGAGGAGGAGGAGGTCAGTGCCTTGGGGTGGGCAGTGTGGGGCCACCAGGAGGTCACCGTGGGTGGACACTTAATCAGTGTGGGGTGGGTCAGTGTGGACAGGACAGTCACTGAGCAGGGGGGTGGAGGCAGCTGGGCAATCAGGAACACACAGCAGGGCAGGGTAGCTAATGCGGTGTGGCTAGTAGCTGGCCAGGGTCCACTCACCAGTCCTCACAACCACAGAGGCAGGGGGCCCATCCACGCCAGCCACATGGGCCCTCACATGCACCGTATACTCAGTATCTGGCTCCAGTCCATCCAGCTCAGCCACCGTGGCCTCCCCAGAAACCAACTGGGATTTCTCTGGGCCTGGGAACAGGGATGGAGGCAGCTCCAGGGCTAGCAAACTCTGTGCCCCAGAGCCCCACCTGGACCCCCAATAAACCCCCAGCCCCCATTCCACCCTGACCTGCCCCCTCCCAAACCCCAGTCCCCACCGTGGGCTGAGTGCCAGGAAACCCTGTATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGG
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AGACATGTCAGATGTGGGTCAGAGTGGCTAGCCCCAGGTGCAGCCTCTGTTCACCTCTCGATGAGGGACTCTTACCTTTGGACAATACACTGGGCAGGGCTCTGGCCGGGGCTGCGGACATAGGGTCTCTTTGAGGTTGAACATTTCTACCAAGAACCCCCAGACCCCTTATATTCTACCACCCAGTCCCCCAGAGGCCTCTTCCAAACCTGAGTAGTGAAGGATGCCTGACACAGGGCTGTGGCCAGACCACTGACTGCCTGGTCCAGGCTTGGCCCATCATCCACGGCGAAGAAGGTCTGGACAGAGTCCATACCCGGCGCCAAGCGACGCAGCTGCTCTGGGTCCGCTCCAGCCATTCCCAACATCACCACATTAAGCCCTAAGGTGGGGTCCAGTGGCTGCATGATAGCCTTTTCAGGGCCACCCCTATTCCCAGACCCCTTCCCCATCAGCCTACTCCTTACCAGAAGCCTGGGCCTCACGGATGGGGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCTCCTCGTAGCCTCCGCACGGTGAGCATTGTCTTGAGTGGCATGTGGTAGGAACACCACATCCGCCAGGCCACGGGGGCACACTGTAGGAAGGGGAACAAGTTACTGAAGCGGGCAGCCCACCCAGACACACCTTTCTGCCCTTCCCACTACGCCCACTATACCTGGCGTCTGTGTGACAGATGCCTCAGGACCCCGCACACCATCCAGGACAGGCGTCAGGGAGAAGATGTAAGAGACGCCAGGCTCTAGCCCTGTCACCCGCTGGGAGCTTGAGATCCCTGGAAGTGTCTGCGGGGACCCAGGCACTTCTGCAGGAGACAGAACTTGATTAAAAAGCTGTCTCCACAGAGCCCCAACTGCCAGCCCACCCAAATCCTGGCCTCCCCCTCACCCTGGCCAGGGCCTCTGAGTGGCCGCCAGGATAGGATGTAGCTGGATGCCCTGGACACTGGAGTCCAGGCCAAAGTCACCGAGTCGATCGAGGTGTCCACCACACGTAGTTCAATGCTTGGAACACGAGGTGACTCTGAAGGAGGAATGAAAGATCGAGGATCAGAGGCTGAGTCCTGAGAACCCAGAAGGGAGAGATCTGAGATCCTGGGTCCGGTTTGTCTTATTGAAGCATCATGGGAGGTCATGCTGGGGTCACCCAGGGTCAGAGGGTGAGGGGTAGGGGTACAGGAGGAGTCACTCAGAGTCGGGGTGCAGGAAGTCAGGGTGGGTCATCAGCAGGGGAGGAGCACGCCAAGGTGAGGCAGGCTTACCAGTGCGCGCAGTCACCTCTGCAGAGGGCCCTTCTCCAGCTGGCCCTAGGACACTCAGCCTCACGCGGTACTGTGTCGCTGGCTCCAGCCCGTCCAGGTGATAGCTGCTGAGCTCGGGCCTCAGGACCCGGGACTGTTCCTGGCCACCTGGGGCAGGCGTGAGGGTGGGGGCCAAGAGCATGTGGGATAGTGACACCTGGGGGCATTAAAGGGCCTGCCCACTTCACTGGCTCTGTTAACTGGGTTCACCCTCCTGACTGATCTTCCTCATCCTCACTGACCCTGCCCACTTTACGGACCCTGCCAGACTGACCCTCCATGAACTCATTGATCCCACCCACTTCATTGATTGATCTTACCTACTGTCACGGATCCCGCAGACCCCCAGTGACAGACCCCGCCCACCATCACTGTCCTCGCCTACCTTGCGGAGTCTGCCACAGCCCTGCCCCCAATGGTCCCTAACTTCCTCCTGGGGACACCTCTCACCCTCAGGTTGCCAGTGCAGAAGGAAGCCCTGCGCTCTGGGCACCGGCTCCCAGCGCAGCCTCAGCGAGTGCTCCCCGCGCTGCACCACGTGAAGCGTCCCCAGGGCTGGCGGAGCCTCAGGCGCTGGAGAGAAAGCTCAGGAATCAGGGAGGCTCTGCCCCCATGGCCCCTGCACCAATCCCAGGCCCACCCTGGCACACGCACCCCGCCCAGCCTCTCAGACCCCTCTCCCTCCTCTCAGACCCTGCCCCCAAAGGCTCACTACCAATCCTGGTCCTTTCTCCAATCCAGAGCACAAGCCCGGATCCCCAAACCATCCACACCACCCATCCGAAGCTCTCCAGCGCATGCTCTGCCTACGCGTAGTGACAACAATGGAGACAGGTGTGCCCTCGCGGTCCCCGACAAGTGCAGTCACTCGCACTGAGTAGCTGACTCCACCTTCGAGACCCCGGATCTCTGCAGAGTCTGTGTTTCCTGGGAGTATCTGGTGCCTCATGGGGCCGCCTGGCCAGGTGGGCATACAGCAATGGTTAGGGGTGAGCAGTCCCAGCCAGGAAGGACAGGGGTGGCGTCAGGGAGCCATACCTTCACTCCGGCCCCAGGCCAGTCTGTAAGCTGTGGCTCCAGTGACCCCTACCCAGGTGATCCGTAGAACGTCGCTGGAAGCATTGAGGATCTGCAGCCTCGACACACGACCCACAGGCTCAGGGGCTGGGGACAGAGGCAAGGTAAGGGGTCCTGGTAGAGAACAGAGAGGCAGTGCAGGAATGGTTGACGCAGGGGTGATCTGAAAGTCAGTGTGAGGTTAGTGTGGACAGGTCACTTTAGGCAGCCCTGAGGAGGAGGAGGTCAGTGCCTTGGGGTGGGCAGTGTGGGGCCACCAGGAGGTCACCGTGGGTGGACACTTAATCAGTGTGGGGTGGGTCAGTGTGGACAGGACAGTCACTGAGCAGGGGGGTGGAGGCAGCTGGGCAATCAGGAACACACAGCAGGGCAGGGTAGCTAATGCGGTGTGGCTAGTAGCTGGCCAGGGTCCACTCACCAGTCCTCACAACCACAGAGGCAGGGGGCCCATCCACGCCAGCCACATGGGCCCTCACATGCACCGTATACTCAGTATCTGGCTCCAGTCCATCCAGCTCAGCCACCGTGGCCTCCCCAGAAACCAACTGGGATTTCTCTGGGCCTGGGAACAGGGATGGAGGCAGCTCCAGGGCTAGCAAACTCTGTGCCCCAGAGCCCCACCTGGACCCCCAATAAACCCCCAGCCCCCATTCCACCCTGACCTGCCCCCTCCCAAACCCCAGTCCCCACCGTGGGCTGAGTGCCAGGAAACCCTGTATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGG
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Task1_train_6967
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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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GGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCTCCTCGTAGCCTCCGCACGGTGAGCATTGTCTTGAGTGGCATGTGGTAGGAACACCACATCCGCCAGGCCACGGGGGCACACTGTAGGAAGGGGAACAAGTTACTGAAGCGGGCAGCCCACCCAGACACACCTTTCTGCCCTTCCCACTACGCCCACTATACCTGGCGTCTGTGTGACAGATGCCTCAGGACCCCGCACACCATCCAGGACAGGCGTCAGGGAGAAGATGTAAGAGACGCCAGGCTCTAGCCCTGTCACCCGCTGGGAGCTTGAGATCCCTGGAAGTGTCTGCGGGGACCCAGGCACTTCTGCAGGAGACAGAACTTGATTAAAAAGCTGTCTCCACAGAGCCCCAACTGCCAGCCCACCCAAATCCTGGCCTCCCCCTCACCCTGGCCAGGGCCTCTGAGTGGCCGCCAGGATAGGATGTAGCTGGATGCCCTGGACACTGGAGTCCAGGCCAAAGTCACCGAGTCGATCGAGGTGTCCACCACACGTAGTTCAATGCTTGGAACACGAGGTGACTCTGAAGGAGGAATGAAAGATCGAGGATCAGAGGCTGAGTCCTGAGAACCCAGAAGGGAGAGATCTGAGATCCTGGGTCCGGTTTGTCTTATTGAAGCATCATGGGAGGTCATGCTGGGGTCACCCAGGGTCAGAGGGTGAGGGGTAGGGGTACAGGAGGAGTCACTCAGAGTCGGGGTGCAGGAAGTCAGGGTGGGTCATCAGCAGGGGAGGAGCACGCCAAGGTGAGGCAGGCTTACCAGTGCGCGCAGTCACCTCTGCAGAGGGCCCTTCTCCAGCTGGCCCTAGGACACTCAGCCTCACGCGGTACTGTGTCGCTGGCTCCAGCCCGTCCAGGTGATAGCTGCTGAGCTCGGGCCCCAGGACCCGGGACTGTTCCTGGCCACCTGGGGCAGGCGTGAGGGTGGGGGCCAAGAGCATGTGGGATAGTGACACCTGGGGGCATTAAAGGGCCTGCCCACTTCACTGGCTCTGTTAACTGGGTTCACCCTCCTGACTGATCTTCCTCATCCTCACTGACCCTGCCCACTTTACGGACCCTGCCAGACTGACCCTCCATGAACTCATTGATCCCACCCACTTCATTGATTGATCTTACCTACTGTCACGGATCCCGCAGACCCCCAGTGACAGACCCCGCCCACCATCACTGTCCTCGCCTACCTTGCGGAGTCTGCCACAGCCCTGCCCCCAATGGTCCCTAACTTCCTCCTGGGGACACCTCTCACCCTCAGGTTGCCAGTGCAGAAGGAAGCCCTGCGCTCTGGGCACCGGCTCCCAGCGCAGCCTCAGCGAGTGCTCCCCGCGCTGCACCACGTGAAGCGTCCCCAGGGCTGGCGGAGCCTCAGGCGCTGGAGAGAAAGCTCAGGAATCAGGGAGGCTCTGCCCCCATGGCCCCTGCACCAATCCCAGGCCCACCCTGGCACACGCACCCCGCCCAGCCTCTCAGACCCCTCTCCCTCCTCTCAGACCCTGCCCCCAAAGGCTCACTACCAATCCTGGTCCTTTCTCCAATCCAGAGCACAAGCCCGGATCCCCAAACCATCCACACCACCCATCCGAAGCTCTCCAGCGCATGCTCTGCCTACGCGTAGTGACAACAATGGAGACAGGTGTGCCCTCGCGGTCCCCGACAAGTGCAGTCACTCGCACTGAGTAGCTGACTCCACCTTCGAGACCCCGGATCTCTGCAGAGTCTGTGTTTCCTGGGAGTATCTGGTGCCTCATGGGGCCGCCTGGCCAGGTGGGCATACAGCAATGGTTAGGGGTGAGCAGTCCCAGCCAGGAAGGACAGGGGTGGCGTCAGGGAGCCATACCTTCACTCCGGCCCCAGGCCAGTCTGTAAGCTGTGGCTCCAGTGACCCCTACCCAGGTGATCCGTAGAACGTCGCTGGAAGCATTGAGGATCTGCAGCCTCGACACACGACCCACAGGCTCAGGGGCTGGGGACAGAGGCAAGGTAAGGGGTCCTGGTAGAGAACAGAGAGGCAGTGCAGGAATGGTTGACGCAGGGGTGATCTGAAAGTCAGTGTGAGGTTAGTGTGGACAGGTCACTTTAGGCAGCCCTGAGGAGGAGGAGGTCAGTGCCTTGGGGTGGGCAGTGTGGGGCCACCAGGAGGTCACCGTGGGTGGACACTTAATCAGTGTGGGGTGGGTCAGTGTGGACAGGACAGTCACTGAGCAGGGGGGTGGAGGCAGCTGGGCAATCAGGAACACACAGCAGGGCAGGGTAGCTAATGCGGTGTGGCTAGTAGCTGGCCAGGGTCCACTCACCAGTCCTCACAACCACAGAGGCAGGGGGCCCATCCACGCCAGCCACATGGGCCCTCACATGCACCGTATACTCAGTATCTGGCTCCAGTCCATCCAGCTCAGCCACCGTGGCCTCCCCAGAAACCAACTGGGATTTCTCTGGGCCTGGGAACAGGGATGGAGGCAGCTCCAGGGCTAGCAAACTCTGTGCCCCAGAGCCCCACCTGGACCCCCAATAAACCCCCAGCCCCCATTCCACCCTGACCTGCCCCCTCCCAAACCCCAGTCCCCACCGTGGGCTGAGTGCCAGGAAACCCTGTATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGGTTGAAGTGGTGGATATTTGAGGGCAAAGGCTGTGGGAGTCTTAGGAGAGAAGCGGAGGAATCTGAATACGGGGAGGGCTTAAGGGGAGACAGCTGAAACTGAAGAGGAAGCAGCGTCTCTGAGGGAGGAGGGAGTGGGATTCTGAAGGGGGAGGCAGGAGTTCTGGGGAGAAGCAAGGGTCTGCAAGGGAAGGCATGGGGGTCTGAAAGAGCAATGGAGGCAGAGAGCCAAGGGACGGGGGCAGGGCCTGACCCGTTCGAGCCACGATGACTGCAGCAGGGCCCTCCTCTCTGCCTCGCAGTACCGACACAGCCACCTGGTAGGTGGTTCCAGGCTGCAGCCCTGTGATGTCTGTGGCAGTAGAGTCTGGGGGCAGTGTCTGGCTGGACTCCGGACCTGAGGTCAGAGGGAAATGCTGGCATGGCTCCTGCCTGTCCCCTCTGGCACCCATACCCTCATTGGTCCCTTTGGCAGTCCCCCCACACACCCCA
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GGCTGAATATGTCACCTCTCAAGGGTTCATCCACTAGCAGAACCATCACCCCTGGTACGTGCTGGCGGCGCCCAGGAGCATCTGGTGCCAACATGTATCTGTGAGCTGTGACCACGGCTGTGCCTGGAAGGAAGGACATGTCAGAACCCTGGGGCACCAAGCTCCCAGTGGATAGCCCCAGGAGTCCATGCCTGCTGCAGTCCTCACCCAGGTTGTTCCCACTTGGGTCCATGTAGGGCATGTCACGGATCCTTTGCAAGATAATGCCAAGGTCATGGGAGCCATTCAGTGGGAACAGTGGGGAGGGCCGATGACTGTAAGACAGCAGGCCAACCTGGGGTGGAAGGAAACACAGAGCCTGAGGAGGATGACAGAGCAGGGATGGGGGTGCACAGAGCCTGGAGAAACACATCAGGGTGTGTGTGACCAAACCCTATCTATTAGGGAGTCAGCAGTGATGGCAGGATAGGGAGCCAGGCAGTAGGTGAGGTCTGGAGCCTGTGAGAGAGCTGGGAGAATGCCTGAACCTATTGGGTGGTCAGGAGATGGTAACTGGTATGGAGCCTGGGTGGGGGGCCTCAGGGAGAGGTAGAATCTGGCTGCCCCAGGGCCAAACCTGAACTGCCTGTGGCCCAAGAGGCCCAAGTGCCAACACCAGACGCTCCAGGACCCTCCTCGTAGCCTCCGCACGGTGAGCATTGTCTTGAGTGGCATGTGGTAGGAACACCACATCCGCCAGGCCACGGGGGCACACTGTAGGAAGGGGAACAAGTTACTGAAGCGGGCAGCCCACCCAGACACACCTTTCTGCCCTTCCCACTACGCCCACTATACCTGGCGTCTGTGTGACAGATGCCTCAGGACCCCGCACACCATCCAGGACAGGCGTCAGGGAGAAGATGTAAGAGACGCCAGGCTCTAGCCCTGTCACCCGCTGGGAGCTTGAGATCCCTGGAAGTGTCTGCGGGGACCCAGGCACTTCTGCAGGAGACAGAACTTGATTAAAAAGCTGTCTCCACAGAGCCCCAACTGCCAGCCCACCCAAATCCTGGCCTCCCCCTCACCCTGGCCAGGGCCTCTGAGTGGCCGCCAGGATAGGATGTAGCTGGATGCCCTGGACACTGGAGTCCAGGCCAAAGTCACCGAGTCGATCGAGGTGTCCACCACACGTAGTTCAATGCTTGGAACACGAGGTGACTCTGAAGGAGGAATGAAAGATCGAGGATCAGAGGCTGAGTCCTGAGAACCCAGAAGGGAGAGATCTGAGATCCTGGGTCCGGTTTGTCTTATTGAAGCATCATGGGAGGTCATGCTGGGGTCACCCAGGGTCAGAGGGTGAGGGGTAGGGGTACAGGAGGAGTCACTCAGAGTCGGGGTGCAGGAAGTCAGGGTGGGTCATCAGCAGGGGAGGAGCACGCCAAGGTGAGGCAGGCTTACCAGTGCGCGCAGTCACCTCTGCAGAGGGCCCTTCTCCAGCTGGCCCTAGGACACTCAGCCTCACGCGGTACTGTGTCGCTGGCTCCAGCCCGTCCAGGTGATAGCTGCTGAGCTCGGGCCCCAGGACCCGGGACTGTTCCTGGCCACCTGGGGCAGGCGTGAGGGTGGGGGCCAAGAGCATGTGGGATAGTGACACCTGGGGGCATTAAAGGGCCTGCCCACTTCACTGGCTCTGTTAACTGGGTTCACCCTCCTGACTGATCTTCCTCATCCTCACTGACCCTGCCCACTTTACGGACCCTGCCAGACTGACCCTCCATGAACTCATTGATCCCACCCACTTCATTGATTGATCTTACCTACTGTCACGGATCCCGCAGACCCCCAGTGACAGACCCCGCCCACCATCACTGTCCTCGCCTACCTTGCGGAGTCTGCCACAGCCCTGCCCCCAATGGTCCCTAACTTCCTCCTGGGGACACCTCTCACCCTCAGGTTGCCAGTGCAGAAGGAAGCCCTGCGCTCTGGGCACCGGCTCCCAGCGCAGCCTCAGCGAGTGCTCCCCGCGCTGCACCACGTGAAGCGTCCCCAGGGCTGGCGGAGCCTCAGGCCCTGGAGAGAAAGCTCAGGAATCAGGGAGGCTCTGCCCCCATGGCCCCTGCACCAATCCCAGGCCCACCCTGGCACACGCACCCCGCCCAGCCTCTCAGACCCCTCTCCCTCCTCTCAGACCCTGCCCCCAAAGGCTCACTACCAATCCTGGTCCTTTCTCCAATCCAGAGCACAAGCCCGGATCCCCAAACCATCCACACCACCCATCCGAAGCTCTCCAGCGCATGCTCTGCCTACGCGTAGTGACAACAATGGAGACAGGTGTGCCCTCGCGGTCCCCGACAAGTGCAGTCACTCGCACTGAGTAGCTGACTCCACCTTCGAGACCCCGGATCTCTGCAGAGTCTGTGTTTCCTGGGAGTATCTGGTGCCTCATGGGGCCGCCTGGCCAGGTGGGCATACAGCAATGGTTAGGGGTGAGCAGTCCCAGCCAGGAAGGACAGGGGTGGCGTCAGGGAGCCATACCTTCACTCCGGCCCCAGGCCAGTCTGTAAGCTGTGGCTCCAGTGACCCCTACCCAGGTGATCCGTAGAACGTCGCTGGAAGCATTGAGGATCTGCAGCCTCGACACACGACCCACAGGCTCAGGGGCTGGGGACAGAGGCAAGGTAAGGGGTCCTGGTAGAGAACAGAGAGGCAGTGCAGGAATGGTTGACGCAGGGGTGATCTGAAAGTCAGTGTGAGGTTAGTGTGGACAGGTCACTTTAGGCAGCCCTGAGGAGGAGGAGGTCAGTGCCTTGGGGTGGGCAGTGTGGGGCCACCAGGAGGTCACCGTGGGTGGACACTTAATCAGTGTGGGGTGGGTCAGTGTGGACAGGACAGTCACTGAGCAGGGGGGTGGAGGCAGCTGGGCAATCAGGAACACACAGCAGGGCAGGGTAGCTAATGCGGTGTGGCTAGTAGCTGGCCAGGGTCCACTCACCAGTCCTCACAACCACAGAGGCAGGGGGCCCATCCACGCCAGCCACATGGGCCCTCACATGCACCGTATACTCAGTATCTGGCTCCAGTCCATCCAGCTCAGCCACCGTGGCCTCCCCAGAAACCAACTGGGATTTCTCTGGGCCTGGGAACAGGGATGGAGGCAGCTCCAGGGCTAGCAAACTCTGTGCCCCAGAGCCCCACCTGGACCCCCAATAAACCCCCAGCCCCCATTCCACCCTGACCTGCCCCCTCCCAAACCCCAGTCCCCACCGTGGGCTGAGTGCCAGGAAACCCTGTATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGGTTGAAGTGGTGGATATTTGAGGGCAAAGGCTGTGGGAGTCTTAGGAGAGAAGCGGAGGAATCTGAATACGGGGAGGGCTTAAGGGGAGACAGCTGAAACTGAAGAGGAAGCAGCGTCTCTGAGGGAGGAGGGAGTGGGATTCTGAAGGGGGAGGCAGGAGTTCTGGGGAGAAGCAAGGGTCTGCAAGGGAAGGCATGGGGGTCTGAAAGAGCAATGGAGGCAGAGAGCCAAGGGACGGGGGCAGGGCCTGACCCGTTCGAGCCACGATGACTGCAGCAGGGCCCTCCTCTCTGCCTCGCAGTACCGACACAGCCACCTGGTAGGTGGTTCCAGGCTGCAGCCCTGTGATGTCTGTGGCAGTAGAGTCTGGGGGCAGTGTCTGGCTGGACTCCGGACCTGAGGTCAGAGGGAAATGCTGGCATGGCTCCTGCCTGTCCCCTCTGGCACCCATACCCTCATTGGTCCCTTTGGCAGTCCCCCCACACACCCCA
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Task1_train_6968
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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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CTGAGAACCCAGAAGGGAGAGATCTGAGATCCTGGGTCCGGTTTGTCTTATTGAAGCATCATGGGAGGTCATGCTGGGGTCACCCAGGGTCAGAGGGTGAGGGGTAGGGGTACAGGAGGAGTCACTCAGAGTCGGGGTGCAGGAAGTCAGGGTGGGTCATCAGCAGGGGAGGAGCACGCCAAGGTGAGGCAGGCTTACCAGTGCGCGCAGTCACCTCTGCAGAGGGCCCTTCTCCAGCTGGCCCTAGGACACTCAGCCTCACGCGGTACTGTGTCGCTGGCTCCAGCCCGTCCAGGTGATAGCTGCTGAGCTCGGGCCCCAGGACCCGGGACTGTTCCTGGCCACCTGGGGCAGGCGTGAGGGTGGGGGCCAAGAGCATGTGGGATAGTGACACCTGGGGGCATTAAAGGGCCTGCCCACTTCACTGGCTCTGTTAACTGGGTTCACCCTCCTGACTGATCTTCCTCATCCTCACTGACCCTGCCCACTTTACGGACCCTGCCAGACTGACCCTCCATGAACTCATTGATCCCACCCACTTCATTGATTGATCTTACCTACTGTCACGGATCCCGCAGACCCCCAGTGACAGACCCCGCCCACCATCACTGTCCTCGCCTACCTTGCGGAGTCTGCCACAGCCCTGCCCCCAATGGTCCCTAACTTCCTCCTGGGGACACCTCTCACCCTCAGGTTGCCAGTGCAGAAGGAAGCCCTGCGCTCTGGGCACCGGCTCCCAGCGCAGCCTCAGCGAGTGCTCCCCGCGCTGCACCACGTGAAGCGTCCCCAGGGCTGGCGGAGCCTCAGGCGCTGGAGAGAAAGCTCAGGAATCAGGGAGGCTCTGCCCCCATGGCCCCTGCACCAATCCCAGGCCCACCCTGGCACACGCACCCCGCCCAGCCTCTCAGACCCCTCTCCCTCCTCTCAGACCCTGCCCCCAAAGGCTCACTACCAATCCTGGTCCTTTCTCCAATCCAGAGCACAAGCCCGGATCCCCAAACCATCCACACCACCCATCCGAAGCTCTCCAGCGCATGCTCTGCCTACGCGTAGTGACAACAATGGAGACAGGTGTGCCCTCGCGGTCCCCGACAAGTGCAGTCACTCGCACTGAGTAGCTGACTCCACCTTCGAGACCCCGGATCTCTGCAGAGTCTGTGTTTCCTGGGAGTATCTGGTGCCTCATGGGGCCGCCTGGCCAGGTGGGCATACAGCAATGGTTAGGGGTGAGCAGTCCCAGCCAGGAAGGACAGGGGTGGCGTCAGGGAGCCATACCTTCACTCCGGCCCCAGGCCAGTCTGTAAGCTGTGGCTCCAGTGACCCCTACCCAGGTGATCCGTAGAACGTCGCTGGAAGCATTGAGGATCTGCAGCCTCGACACACGACCCACAGGCTCAGGGGCTGGGGACAGAGGCAAGGTAAGGGGTCCTGGTAGAGAACAGAGAGGCAGTGCAGGAATGGTTGACGCAGGGGTGATCTGAAAGTCAGTGTGAGGTTAGTGTGGACAGGTCACTTTAGGCAGCCCTGAGGAGGAGGAGGTCAGTGCCTTGGGGTGGGCAGTGTGGGGCCACCAGGAGGTCACCGTGGGTGGACACTTAATCAGTGTGGGGTGGGTCAGTGTGGACAGGACAGTCACTGAGCAGGGGGGTGGAGGCAGCTGGGCAATCAGGAACACACAGCAGGGCAGGGTAGCTAATGCGGTGTGGCTAGTAGCTGGCCAGGGTCCACTCACCAGTCCTCACAACCACAGAGGCAGGGGGCCCATCCACGCCAGCCACATGGGCCCTCACATGCACCGTATACTCAGTATCTGGCTCCAGTCCATCCAGCTCAGCCACCGTGGCCTCCCCAGAAACCAACTGGGATTTCTCTGGGCCTGGGAACAGGGATGGAGGCAGCTCCAGGGCTAGCAAACTCTGTGCCCCAGAGCCCCACCTGGACCCCCAATAAACCCCCAGCCCCCATTCCACCCTGACCTGCCCCCTCCCAAACCCCAGTCCCCACCGTGGGCTGAGTGCCAGGAAACCCTGTATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGGTTGAAGTGGTGGATATTTGAGGGCAAAGGCTGTGGGAGTCTTAGGAGAGAAGCGGAGGAATCTGAATACGGGGAGGGCTTAAGGGGAGACAGCTGAAACTGAAGAGGAAGCAGCGTCTCTGAGGGAGGAGGGAGTGGGATTCTGAAGGGGGAGGCAGGAGTTCTGGGGAGAAGCAAGGGTCTGCAAGGGAAGGCATGGGGGTCTGAAAGAGCAATGGAGGCAGAGAGCCAAGGGACGGGGGCAGGGCCTGACCCGTTCGAGCCACGATGACTGCAGCAGGGCCCTCCTCTCTGCCTCGCAGTACCGACACAGCCACCTGGTAGGTGGTTCCAGGCTGCAGCCCTGTGATGTCTGTGGCAGTAGAGTCTGGGGGCAGTGTCTGGCTGGACTCCGGACCTGAGGTCAGAGGGAAATGCTGGCATGGCTCCTGCCTGTCCCCTCTGGCACCCATACCCTCATTGGTCCCTTTGGCAGTCCCCCCACACACCCCACACTGACCACTGCCTGTGCTCCAGCTAATCCGAAATCCACTGGCTCCAGGGACGGGTCCCCAGGCCACCCTCACTCGCGTTGCATCTGACACCACAACCCGCAGCCCTGGAACAGCAAGTGGAGTTTCCGGCTCTAGGAGTTACAGACAGAAGTCAGAAGTCAGAACCAGGACCAGAGTGAGGCAGGCAGCTGTCCTCCACAAGCCTCCTGCAGTACTCACCCCGGCGGACAGTGAGGACACTGGCACTGCCCTCACGGGGACCCACTCGAGCAGACACCCGCACAGTGTAGCTAAGCCCAGCCTGAACGTCATCCAAGTCGAATGCTGTCTGACTCCCAGGAAGCACCAGGGTCCGCTCAACCCCTAAGAGAGAAGTCAGGGTAGGTGGGCAGGGGTCAGAAAGAGACAGGGATGTGGGACGATGGCAGTGATGGACAGGGACGCAGAGTGAGAAGGGCCATGGGGGTGGGGATGTGGGGTGGTGGGGACCAGAGAGCTGGGATATGGCTGAAAAAAGTGAGTGCAAGACAAGGACATAGGATGAAAGGGGCCAGTGATGGTCAGGGACACTGGAGGACAGGAGTCTGTGGGATCTTAGCATGTAGGATGACAGGAGTCAGTGGACTGCAGTGAGAACTGATGAGCCATTGACAGACACTGATGTGGGATGGCAGAGGTCAGTGCTGGATGGGGACATGCAATGAGAGGTTGGTGTACAGTGGTCACCACTAGGGTAACAGAAAGACAGGTGATTGAGCTTGTGGCTGTGCAGAGGTGAAAGCCGTGGATGGGGTGTGGGGCAGGGAGGAGATTGGTTGGGGTAGGGTAGGGGCAGACACACCCTGTTGACAGTTCAGGGCTCAGTGCCATCTTGGGAAGCAGATGGATAACGAGACAGGGAGGAGACTATAGGGACCCAGGTGTGGAAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTG
|
CTGAGAACCCAGAAGGGAGAGATCTGAGATCCTGGGTCCGGTTTGTCTTATTGAAGCATCATGGGAGGTCATGCTGGGGTCACCCAGGGTCAGAGGGTGAGGGGTAGGGGTACAGGAGGAGTCACTCAGAGTCGGGGTGCAGGAAGTCAGGGTGGGTCATCAGCAGGGGAGGAGCACGCCAAGGTGAGGCAGGCTTACCAGTGCGCGCAGTCACCTCTGCAGAGGGCCCTTCTCCAGCTGGCCCTAGGACACTCAGCCTCACGCGGTACTGTGTCGCTGGCTCCAGCCCGTCCAGGTGATAGCTGCTGAGCTCGGGCCCCAGGACCCGGGACTGTTCCTGGCCACCTGGGGCAGGCGTGAGGGTGGGGGCCAAGAGCATGTGGGATAGTGACACCTGGGGGCATTAAAGGGCCTGCCCACTTCACTGGCTCTGTTAACTGGGTTCACCCTCCTGACTGATCTTCCTCATCCTCACTGACCCTGCCCACTTTACGGACCCTGCCAGACTGACCCTCCATGAACTCATTGATCCCACCCACTTCATTGATTGATCTTACCTACTGTCACGGATCCCGCAGACCCCCAGTGACAGACCCCGCCCACCATCACTGTCCTCGCCTACCTTGCGGAGTCTGCCACAGCCCTGCCCCCAATGGTCCCTAACTTCCTCCTGGGGACACCTCTCACCCTCAGGTTGCCAGTGCAGAAGGAAGCCCTGCGCTCTGGGCACCGGCTCCCAGCGCAGCCTCAGCGAGTGCTCCCCGCGCTGCACCACGTGAAGCGTCCCCAGGGCTGGCGGAGCCTCAGGCGCTGGAGAGAAAGCTCAGGAATCAGGGAGGCTCTGCCCCCATGGCCCCTGCACCAATCCCAGGCCCACCCTGGCACACGCACCCCGCCCAGCCTCTCAGACCCCTCTCCCTCCTCTCAGACCCTGCCCCCAAAGGCTCACTACCAATCCTGGTCCTTTCTCCAATCCAGAGCACAAGCCCGGATCCCCAAACCATCCACACCACCCATCCGAAGCTCTCCAGCGCATGCTCTGCCTACGCGTAGTGACAACAATGGAGACAGGTGTGCCCTCGCGGTCCCCGACAAGTGCAGTCACTCGCACTGAGTAGCTGACTCCACCTTCGAGACCCCGGATCTCTGCAGAGTCTGTGTTTCCTGGGAGTATCTGGTGCCTCATGGGGCCGCCTGGCCAGGTGGGCATACAGCAATGGTTAGGGGTGAGCAGTCCCAGCCAGGAAGGACAGGGGTGGCGTCAGGGAGCCATACCTTCACTCCGGCCCCAGGCCAGTCTGTAAGCTGTGGCTCCAGTGACCCCTACCCAGGTGATCCGTAGAACGTCGCTGGAAGCATTGAGGATCTGCAGCCTCGACACACGACCCACAGGCTCAGGGGCTGGGGACAGAGGCAAGGTAAGGGGTCCTGGTAGAGAACAGAGAGGCAGTGCAGGAATGGTTGACGCAGGGGTGATCTGAAAGTCAGTGTGAGGTTAGTGTGGACAGGTCACTTTAGGCAGCCCTGAGGAGGAGGAGGTCAGTGCCTTGGGGTGGGCAGTGTGGGGCCACCAGGAGGTCACCGTGGGTGGACACTTAATCAGTGTGGGGTGGGTCAGTGTGGACAGGACAGTCACTGAGCAGGGGGGTGGAGGCAGCTGGGCAATCAGGAACACACAGCAGGGCAGGGTAGCTAATGCGGTGTGGCTAGTAGCTGGCCAGGGTCCACTCACCAGTCCTCACAACCACAGAGGCAGGGGGCCCATCCACGCCAGCCACATGGGCCCTCACATGCACCGTATACTCAGTATCTGGCTCCAGTCCATCCAGCTCAGCCACCGTGGCCTCCCCAGAAACCAACTGGGATTTCTCTGGGCCTGGGAACAGGGATGGAGGCAGCTCCAGGGCTAGCAAACTCTGTGCCCCAGAGCCCCACCTGGACCCCCAATAAACCCCCAGCCCCCATTCCACCCTGACCTGCCCCCTCCCAAACCCCAGTCCCCACCGTGGGCTGAGTGCCAGGAAACCCTGTATCCTGTGGCGCCAGGAGCCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGGTTGAAGTGGTGGATATTTGAGGGCAAAGGCTGTGGGAGTCTTAGGAGAGAAGCGGAGGAATCTGAATACGGGGAGGGCTTAAGGGGAGACAGCTGAAACTGAAGAGGAAGCAGCGTCTCTGAGGGAGGAGGGAGTGGGATTCTGAAGGGGGAGGCAGGAGTTCTGGGGAGAAGCAAGGGTCTGCAAGGGAAGGCATGGGGGTCTGAAAGAGCAATGGAGGCAGAGAGCCAAGGGACGGGGGCAGGGCCTGACCCGTTCGAGCCACGATGACTGCAGCAGGGCCCTCCTCTCTGCCTCGCAGTACCGACACAGCCACCTGGTAGGTGGTTCCAGGCTGCAGCCCTGTGATGTCTGTGGCAGTAGAGTCTGGGGGCAGTGTCTGGCTGGACTCCGGACCTGAGGTCAGAGGGAAATGCTGGCATGGCTCCTGCCTGTCCCCTCTGGCACCCATACCCTCATTGGTCCCTTTGGCAGTCCCCCCACACACCCCACACTGACCACTGCCTGTGCTCCAGCTAATCCGAAATCCACTGGCTCCAGGGACGGGTCCCCAGGCCACCCTCACTCGCGTTGCATCTGACACCACAACCCGCAGCCCTGGAACAGCAAGTGGAGTTTCCGGCTCTAGGAGTTACAGACAGAAGTCAGAAGTCAGAACCAGGACCAGAGTGAGGCAGGCAGCTGTCCTCCACAAGCCTCCTGCAGTACTCACCCCGGCGGACAGTGAGGACACTGGCACTGCCCTCACGGGGACCCACTCGAGCAGACACCCGCACAGTGTAGCTAAGCCCAGCCTGAACGTCATCCAAGTCGAATGCTGTCTGACTCCCAGGAAGCACCAGGGTCCGCTCAACCCCTAAGAGAGAAGTCAGGGTAGGTGGGCAGGGGTCAGAAAGAGACAGGGATGTGGGACGATGGCAGTGATGGACAGGGACGCAGAGTGAGAAGGGCCATGGGGGTGGGGATGTGGGGTGGTGGGGACCAGAGAGCTGGGATATGGCTGAAAAAAGTGAGTGCAAGACAAGGACATAGGATGAAAGGGGCCAGTGATGGTCAGGGACACTGGAGGACAGGAGTCTGTGGGATCTTAGCATGTAGGATGACAGGAGTCAGTGGACTGCAGTGAGAACTGATGAGCCATTGACAGACACTGATGTGGGATGGCAGAGGTCAGTGCTGGATGGGGACATGCAATGAGAGGTTGGTGTACAGTGGTCACCACTAGGGTAACAGAAAGACAGGTGATTGAGCTTGTGGCTGTGCAGAGGTGAAAGCCGTGGATGGGGTGTGGGGCAGGGAGGAGATTGGTTGGGGTAGGGTAGGGGCAGACACACCCTGTTGACAGTTCAGGGCTCAGTGCCATCTTGGGAAGCAGATGGATAACGAGACAGGGAGGAGACTATAGGGACCCAGGTGTGGAAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTG
|
Task1_train_6969
|
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; Epidermolysis bullosa dystrophica
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TATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGGTTGAAGTGGTGGATATTTGAGGGCAAAGGCTGTGGGAGTCTTAGGAGAGAAGCGGAGGAATCTGAATACGGGGAGGGCTTAAGGGGAGACAGCTGAAACTGAAGAGGAAGCAGCGTCTCTGAGGGAGGAGGGAGTGGGATTCTGAAGGGGGAGGCAGGAGTTCTGGGGAGAAGCAAGGGTCTGCAAGGGAAGGCATGGGGGTCTGAAAGAGCAATGGAGGCAGAGAGCCAAGGGACGGGGGCAGGGCCTGACCCGTTCGAGCCACGATGACTGCAGCAGGGCCCTCCTCTCTGCCTCGCAGTACCGACACAGCCACCTGGTAGGTGGTTCCAGGCTGCAGCCCTGTGATGTCTGTGGCAGTAGAGTCTGGGGGCAGTGTCTGGCTGGACTCCGGACCTGAGGTCAGAGGGAAATGCTGGCATGGCTCCTGCCTGTCCCCTCTGGCACCCATACCCTCATTGGTCCCTTTGGCAGTCCCCCCACACACCCCACACTGACCACTGCCTGTGCTCCAGCTAATCCGAAATCCACTGGCTCCAGGGACGGGTCCCCAGGCCACCCTCACTCGCGTTGCATCTGACACCACAACCCGCAGCCCTGGAACAGCAAGTGGAGTTTCCGGCTCTAGGAGTTACAGACAGAAGTCAGAAGTCAGAACCAGGACCAGAGTGAGGCAGGCAGCTGTCCTCCACAAGCCTCCTGCAGTACTCACCCCGGCGGACAGTGAGGACACTGGCACTGCCCTCACGGGGACCCACTCGAGCAGACACCCGCACAGTGTAGCTAAGCCCAGCCTGAACGTCATCCAAGTCGAATGCTGTCTGACTCCCAGGAAGCACCAGGGTCCGCTCAACCCCTAAGAGAGAAGTCAGGGTAGGTGGGCAGGGGTCAGAAAGAGACAGGGATGTGGGACGATGGCAGTGATGGACAGGGACGCAGAGTGAGAAGGGCCATGGGGGTGGGGATGTGGGGTGGTGGGGACCAGAGAGCTGGGATATGGCTGAAAAAAGTGAGTGCAAGACAAGGACATAGGATGAAAGGGGCCAGTGATGGTCAGGGACACTGGAGGACAGGAGTCTGTGGGATCTTAGCATGTAGGATGACAGGAGTCAGTGGACTGCAGTGAGAACTGATGAGCCATTGACAGACACTGATGTGGGATGGCAGAGGTCAGTGCTGGATGGGGACATGCAATGAGAGGTTGGTGTACAGTGGTCACCACTAGGGTAACAGAAAGACAGGTGATTGAGCTTGTGGCTGTGCAGAGGTGAAAGCCGTGGATGGGGTGTGGGGCAGGGAGGAGATTGGTTGGGGTAGGGTAGGGGCAGACACACCCTGTTGACAGTTCAGGGCTCAGTGCCATCTTGGGAAGCAGATGGATAACGAGACAGGGAGGAGACTATAGGGACCCAGGTGTGGAAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAAC
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TATCCTGTGGCGCCAGGAACCCTGGTCCAGGTAATGGTGACAGATGAGCTGCTGGCCTGAGTCACATGGACCGTCCTCACTGGGCCCAGTGGGTCTAGTGGGGAGAGGCAATGGGGAGTCTGCTGGAACAGGCAGGAAGGAGTGGGGCTATCTGATAGGGGAAGATGATGGGAGTCTAACAGGAGACGGGAATTTGATAGAGGAGATGGTGAATAGGTCCAGTGGAGGAGTGGGGAGGTGGAGGTTTTAGGAAGCAGTGAGCAGGTCTGATGGAGGAGAAAGTGTAAATCTCAGAGGAGATTTGGGTCCAGCAAAAAAGGGATGGGGGTCTGAGGGTTGAAGTGGTGGATATTTGAGGGCAAAGGCTGTGGGAGTCTTAGGAGAGAAGCGGAGGAATCTGAATACGGGGAGGGCTTAAGGGGAGACAGCTGAAACTGAAGAGGAAGCAGCGTCTCTGAGGGAGGAGGGAGTGGGATTCTGAAGGGGGAGGCAGGAGTTCTGGGGAGAAGCAAGGGTCTGCAAGGGAAGGCATGGGGGTCTGAAAGAGCAATGGAGGCAGAGAGCCAAGGGACGGGGGCAGGGCCTGACCCGTTCGAGCCACGATGACTGCAGCAGGGCCCTCCTCTCTGCCTCGCAGTACCGACACAGCCACCTGGTAGGTGGTTCCAGGCTGCAGCCCTGTGATGTCTGTGGCAGTAGAGTCTGGGGGCAGTGTCTGGCTGGACTCCGGACCTGAGGTCAGAGGGAAATGCTGGCATGGCTCCTGCCTGTCCCCTCTGGCACCCATACCCTCATTGGTCCCTTTGGCAGTCCCCCCACACACCCCACACTGACCACTGCCTGTGCTCCAGCTAATCCGAAATCCACTGGCTCCAGGGACGGGTCCCCAGGCCACCCTCACTCGCGTTGCATCTGACACCACAACCCGCAGCCCTGGAACAGCAAGTGGAGTTTCCGGCTCTAGGAGTTACAGACAGAAGTCAGAAGTCAGAACCAGGACCAGAGTGAGGCAGGCAGCTGTCCTCCACAAGCCTCCTGCAGTACTCACCCCGGCGGACAGTGAGGACACTGGCACTGCCCTCACGGGGACCCACTCGAGCAGACACCCGCACAGTGTAGCTAAGCCCAGCCTGAACGTCATCCAAGTCGAATGCTGTCTGACTCCCAGGAAGCACCAGGGTCCGCTCAACCCCTAAGAGAGAAGTCAGGGTAGGTGGGCAGGGGTCAGAAAGAGACAGGGATGTGGGACGATGGCAGTGATGGACAGGGACGCAGAGTGAGAAGGGCCATGGGGGTGGGGATGTGGGGTGGTGGGGACCAGAGAGCTGGGATATGGCTGAAAAAAGTGAGTGCAAGACAAGGACATAGGATGAAAGGGGCCAGTGATGGTCAGGGACACTGGAGGACAGGAGTCTGTGGGATCTTAGCATGTAGGATGACAGGAGTCAGTGGACTGCAGTGAGAACTGATGAGCCATTGACAGACACTGATGTGGGATGGCAGAGGTCAGTGCTGGATGGGGACATGCAATGAGAGGTTGGTGTACAGTGGTCACCACTAGGGTAACAGAAAGACAGGTGATTGAGCTTGTGGCTGTGCAGAGGTGAAAGCCGTGGATGGGGTGTGGGGCAGGGAGGAGATTGGTTGGGGTAGGGTAGGGGCAGACACACCCTGTTGACAGTTCAGGGCTCAGTGCCATCTTGGGAAGCAGATGGATAACGAGACAGGGAGGAGACTATAGGGACCCAGGTGTGGAAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACTAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAAC
|
Task1_train_6970
|
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?
|
Pathogenic; Epidermolysis bullosa dystrophica
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AAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTC
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AAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCGGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTC
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Task1_train_6971
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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; COL7A1-related disorder
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AAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTC
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AAGGAGAGGGCTGGAGGTACACTCAGACCCCTCAGGCTGGAACTTCAGTGTGTGTGGTGGGGGTGCTGGCTGCGTCCACCTCACCCTGGGTGCTGCGCACAATGATGCGGTACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCTGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTC
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Task1_train_6972
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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; Recessive dystrophic epidermolysis bullosa
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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Task1_train_6973
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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 pruriginosa
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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Task1_train_6974
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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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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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Task1_train_6975
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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?
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Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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Task1_train_6976
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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; Nonsyndromic congenital nail disorder 8
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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Task1_train_6977
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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; Epidermolysis bullosa pruriginosa
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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Task1_train_6978
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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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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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Task1_train_6979
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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; Generalized dominant dystrophic epidermolysis bullosa
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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Task1_train_6980
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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; Transient bullous dermolysis of the newborn
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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Task1_train_6981
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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?
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Pathogenic; Anonychia
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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Task1_train_6982
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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; Abnormality of the skin
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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Task1_train_6983
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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; Nail dystrophy
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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Task1_train_6984
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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; Skin erosion
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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Task1_train_6985
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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; Epidermolysis bullosa dystrophica
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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TACTGGGTGGCACCAGGGACTGGGCTCCAGGACACTCGCACCCGCTGCCCGGGCAGCTCGGTGGCTTGCAGGTCTGTTACAGGGCTCACAGGCAGCTCTGGTCCTGTTGGAGAGCACAGCATAGAGGCAGCCTGGGGCTCCGACACCTCCCCCACTCACTGGCCCAGCCCACAGAGCCCTCACCAGTGGGAACCACGGTTGCAGGGGTGGCCACCTCGTGGCCCTCCAGCAGAGTGTAGAGTGTGAGGCGGTACTCAGTGCCCGGCTGCAGCCCATCCAACTGGTAGCGGGTCACATCAGAGGGCAGTACCACCTTCTGCGGTGGCTCCAAGCCTGCAAGATAACAGGGTCAGACCAGCAGAGGCCATGCCCTGACCCTTGCCTGTCCATCCCTTCCCCCGCACTGACCAGTCTCACGCCGCCATTCCAACCGGTAGCCACGGGCCTCAGGCACCAAGTTCCAGGAAAGGAGGATGGATGTGGGGCCCAGGATGACCGGGCGCAGGGTCTGCTCAACAGAAGCGTCTGCCCAGGGCACATGGGATGTCAGTGGCCTCCGGGCCTTGCCCTGCCTGCCCGTCCCAGCCTGAAGAAAGTGCCCAGCCTTCTCACCAGTGCGAGCCATCAGGGAAGTGGCGGGCCCCACACTGCGGCCAAATAGGGTGCTCACGGTCACCTCATAGTCCGTGCCAGGCTCCAAGTCACGCAGCAACACTGAACCCTGCCCAGGGCCCAGCTCCTGCTGCTGTGTGGGCCCACCTGCATGGGGGACACCAAGGGGCCAGTGGGCCTTGCAGACTCAGGACTCTACAGCCTTGTCTGAGGCGCGGGGACTCCCCTCAGCCCACATCTCTCACTCACCACTGAGGACCCGCCATGTCACACGGTAGCCAGTGGCACCTGGCACACTCCGCCAGGCCACCAGGAGGCTGTGGGCTGTGGTATTCTGGATGGTCAGTTCCGGCCCTTCTAGGGCAGCTGGGGGAGAGTCCCACCAGGGATTCATGGAGTCAGAAGTGGGAGGGGGTACTGGGGTCGGGGGTTAGGTGAATGGGGTCAGAGGCTGGCAGAATTGCTCACTGGTCCGAGCTGTCCCGCTCACAGCCTCCCCGATGCTGTTGGCGTAGAGGGCAATCACAGTCACTTGGTACTCGGTCAGTGGCCGGAGACCCCGCAGCCGCACACTGGTCTCACCAGCTGGGACGTTCACCTGCCCAGGGCAAGAGGTCACTTTATCTTGCCCAGCCAAGTCCCCAGCCACCACCTATCACTCCTGACATCCTACCTCCTGCCGCTCACTCGGCAGTGGCTGTCCCAGCCCCGTCAGAGGAGTGTACTGGACCTTGTAGCCAGTCACAGGGCCACTGGCCGCTGTCCACTGTACTCTCAAGGATTGGCTGCTTGGCTCAGACAGCACCAGGTCTCGTGGAGCAGAGGTCGAGTCATCCGCTGGGAATGCGGGATCAGGGGATCAGGCAGGAGGATTGGGGTGGGCATGTATGATGCAGAGTTGGGGTCGGGGTCAGGAGCACATAGGATGGAATCAGCACTGCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCCTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGA
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Task1_train_6986
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Consider this mutation in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this a benign change or a disease-causing variant?
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Pathogenic; not provided
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GTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGAGGAGTGGACAGGTTCCTGCAGAGCCACAAGGCAGCAGCGCCGTGGGGGGTGGGGCTGCAGTTGGGGATGACTCACCCCCAATCCAGTGGGGGTGCCCAGACAAGCCCTCAGGCCATGGGTCCCGCCGGCCACTCCTGTGATTCAGCCATCTGTCTGGTGGGCCTCCTGGGCCCCACCCGGATCTCCTTGACAGGCAAGAAGCCCTGGCAAATGAGTGACTCTGGGCCGGTCTTAGGGAAACCAAGGTCCCCTTGGCCTGGATCCAAGTAACTCACCCCCTCTTTGTAGGGGATAAGCCGGAAGGAGGAGAGAACCTGTGTCATGCTTATGCATACATCCCAGTGTCCCACATCCCCTACCATGTCACAGGCAGATGCAATCCAGCTGTGCCTGCAGGGAGGGGGCCGCCCATCTGTGGAGGGCGGGACCACCCACAGTGACAGCTCATCTCTCAGGAATCGAGCCCTCCATGCCCCAGGCCAGGTCCCCCTACCTACATGTCCTCACCCACAGGCATCCTCTCCTTCCATCTACTTTTCTTGTAGGTCCCTGCCACCCATCTCCCCTACCAGGCCGAGGTCCCCTTGGGCCCCTTCCTCCTTTCCTCACTGCCCTCATGGTACCTGTAGCTTCCAGCTTCATAACTGCCCCCTACCTTACTCCTGTCCCCTTACCCAGGCTGACTTCACACCCTCCCCCAGCTTCGCTTCTGAGGCTGTGGACAGTCCTCCAACACACACCACGCCAGGGCCACTGTCCGAAGGAGGTGGGGCTCTGTATATGCATATCTCTCCATTAGATGGGTGACACTAAGGCAGAGAGGCACTGCTAAGAAGGGCAGGCCCCCATCTGGGTCCTGCTCCCCCTTTTTTTCCTGCTAATCCTGAATAACTCTGGGCAGCCCAGAAAGCACATCTATACTCACCAAGGCTGCTGGGCCCCTTCTAATATGCCCGGCCCCACAGCCTCCCCTGGGATCCACAGGGAGATATGGGGACAGCACTGGCTGGACTCCTCCACAGCCCGAGGACTCTGGTGTGGCCAGAGCTGGAGGCAGTGAAGACCATCCATGCTGCCTGCTTTCCTATTGCCCAAGGAAGGCTGGGGCTCTATCCCTTATTACTGACCCCCCAAACTATCCTGGGGCATAGTGCTATGACCTTATTCCAAGGTCAGGGTCTCCTCAGCCATGTCCCAGGACCCCCCATCCCTGCAAGGTGTGCTCCAGGTGGGGGGCTGCAGAGAACCAGGTATGTTATCACACAGGCAGCCCCTTCCCCCTAAGACTGTCACCTCCTCCCGTGCAGCCAGGGCGGGCAAGAGCAGGCCAGTGGCATGGACAGTACGGTACAGACATATGTGCACACGTGGGCCAGTCTTAGGGGAGACAGGAGGCCCAGCTGGGAGGGTGGGTGCTCAGGCAAACCTCATCAGAATTGAGGTGCCTCCAAAAGAAAGGACAGGCTGCTGTGAGAGGGTCTCTCAAAGGGTGCTGGGAGAGGCTGTTGAGAAGGTAGGAGTAAGGTTGGAATGACTCCACGTCTGGAGCTTCTATGAGACTCACGAGCAGGAGTGTGGCCCTCTGAAGCCCCAGCTCTGGCCTCCTGGGAGGAACACAGC
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GTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCCTCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGAGGAGTGGACAGGTTCCTGCAGAGCCACAAGGCAGCAGCGCCGTGGGGGGTGGGGCTGCAGTTGGGGATGACTCACCCCCAATCCAGTGGGGGTGCCCAGACAAGCCCTCAGGCCATGGGTCCCGCCGGCCACTCCTGTGATTCAGCCATCTGTCTGGTGGGCCTCCTGGGCCCCACCCGGATCTCCTTGACAGGCAAGAAGCCCTGGCAAATGAGTGACTCTGGGCCGGTCTTAGGGAAACCAAGGTCCCCTTGGCCTGGATCCAAGTAACTCACCCCCTCTTTGTAGGGGATAAGCCGGAAGGAGGAGAGAACCTGTGTCATGCTTATGCATACATCCCAGTGTCCCACATCCCCTACCATGTCACAGGCAGATGCAATCCAGCTGTGCCTGCAGGGAGGGGGCCGCCCATCTGTGGAGGGCGGGACCACCCACAGTGACAGCTCATCTCTCAGGAATCGAGCCCTCCATGCCCCAGGCCAGGTCCCCCTACCTACATGTCCTCACCCACAGGCATCCTCTCCTTCCATCTACTTTTCTTGTAGGTCCCTGCCACCCATCTCCCCTACCAGGCCGAGGTCCCCTTGGGCCCCTTCCTCCTTTCCTCACTGCCCTCATGGTACCTGTAGCTTCCAGCTTCATAACTGCCCCCTACCTTACTCCTGTCCCCTTACCCAGGCTGACTTCACACCCTCCCCCAGCTTCGCTTCTGAGGCTGTGGACAGTCCTCCAACACACACCACGCCAGGGCCACTGTCCGAAGGAGGTGGGGCTCTGTATATGCATATCTCTCCATTAGATGGGTGACACTAAGGCAGAGAGGCACTGCTAAGAAGGGCAGGCCCCCATCTGGGTCCTGCTCCCCCTTTTTTTCCTGCTAATCCTGAATAACTCTGGGCAGCCCAGAAAGCACATCTATACTCACCAAGGCTGCTGGGCCCCTTCTAATATGCCCGGCCCCACAGCCTCCCCTGGGATCCACAGGGAGATATGGGGACAGCACTGGCTGGACTCCTCCACAGCCCGAGGACTCTGGTGTGGCCAGAGCTGGAGGCAGTGAAGACCATCCATGCTGCCTGCTTTCCTATTGCCCAAGGAAGGCTGGGGCTCTATCCCTTATTACTGACCCCCCAAACTATCCTGGGGCATAGTGCTATGACCTTATTCCAAGGTCAGGGTCTCCTCAGCCATGTCCCAGGACCCCCCATCCCTGCAAGGTGTGCTCCAGGTGGGGGGCTGCAGAGAACCAGGTATGTTATCACACAGGCAGCCCCTTCCCCCTAAGACTGTCACCTCCTCCCGTGCAGCCAGGGCGGGCAAGAGCAGGCCAGTGGCATGGACAGTACGGTACAGACATATGTGCACACGTGGGCCAGTCTTAGGGGAGACAGGAGGCCCAGCTGGGAGGGTGGGTGCTCAGGCAAACCTCATCAGAATTGAGGTGCCTCCAAAAGAAAGGACAGGCTGCTGTGAGAGGGTCTCTCAAAGGGTGCTGGGAGAGGCTGTTGAGAAGGTAGGAGTAAGGTTGGAATGACTCCACGTCTGGAGCTTCTATGAGACTCACGAGCAGGAGTGTGGCCCTCTGAAGCCCCAGCTCTGGCCTCCTGGGAGGAACACAGC
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Task1_train_6987
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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; Recessive dystrophic epidermolysis bullosa
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TCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGAGGAGTGGACAGGTTCCTGCAGAGCCACAAGGCAGCAGCGCCGTGGGGGGTGGGGCTGCAGTTGGGGATGACTCACCCCCAATCCAGTGGGGGTGCCCAGACAAGCCCTCAGGCCATGGGTCCCGCCGGCCACTCCTGTGATTCAGCCATCTGTCTGGTGGGCCTCCTGGGCCCCACCCGGATCTCCTTGACAGGCAAGAAGCCCTGGCAAATGAGTGACTCTGGGCCGGTCTTAGGGAAACCAAGGTCCCCTTGGCCTGGATCCAAGTAACTCACCCCCTCTTTGTAGGGGATAAGCCGGAAGGAGGAGAGAACCTGTGTCATGCTTATGCATACATCCCAGTGTCCCACATCCCCTACCATGTCACAGGCAGATGCAATCCAGCTGTGCCTGCAGGGAGGGGGCCGCCCATCTGTGGAGGGCGGGACCACCCACAGTGACAGCTCATCTCTCAGGAATCGAGCCCTCCATGCCCCAGGCCAGGTCCCCCTACCTACATGTCCTCACCCACAGGCATCCTCTCCTTCCATCTACTTTTCTTGTAGGTCCCTGCCACCCATCTCCCCTACCAGGCCGAGGTCCCCTTGGGCCCCTTCCTCCTTTCCTCACTGCCCTCATGGTACCTGTAGCTTCCAGCTTCATAACTGCCCCCTACCTTACTCCTGTCCCCTTACCCAGGCTGACTTCACACCCTCCCCCAGCTTCGCTTCTGAGGCTGTGGACAGTCCTCCAACACACACCACGCCAGGGCCACTGTCCGAAGGAGGTGGGGCTCTGTATATGCATATCTCTCCATTAGATGGGTGACACTAAGGCAGAGAGGCACTGCTAAGAAGGGCAGGCCCCCATCTGGGTCCTGCTCCCCCTTTTTTTCCTGCTAATCCTGAATAACTCTGGGCAGCCCAGAAAGCACATCTATACTCACCAAGGCTGCTGGGCCCCTTCTAATATGCCCGGCCCCACAGCCTCCCCTGGGATCCACAGGGAGATATGGGGACAGCACTGGCTGGACTCCTCCACAGCCCGAGGACTCTGGTGTGGCCAGAGCTGGAGGCAGTGAAGACCATCCATGCTGCCTGCTTTCCTATTGCCCAAGGAAGGCTGGGGCTCTATCCCTTATTACTGACCCCCCAAACTATCCTGGGGCATAGTGCTATGACCTTATTCCAAGGTCAGGGTCTCCTCAGCCATGTCCCAGGACCCCCCATCCCTGCAAGGTGTGCTCCAGGTGGGGGGCTGCAGAGAACCAGGTATGTTATCACACAGGCAGCCCCTTCCCCCTAAGACTGTCACCTCCTCCCGTGCAGCCAGGGCGGGCAAGAGCAGGCCAGTGGCATGGACAGTACGGTACAGACATATGTGCACACGTGGGCCAGTCTTAGGGGAGACAGGAGGCCCAGCTGGGAGGGTGGGTGCTCAGGCAAACCTCATCAGAATTGAGGTGCCTCCAAAAGAAAGGACAGGCTGCTGTGAGAGGGTCTCTCAAAGGGTGCTGGGAGAGGCTGTTGAGAAGGTAGGAGTAAGGTTGGAATGACTCCACGTCTGGAGCTTCTATGAGACTCACGAGCAGGAGTGTGGCCCTCTGAAGCCCCAGCTCTGGCCTCCTGGGAGGAACACAGCC
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TCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCACCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGAGGAGTGGACAGGTTCCTGCAGAGCCACAAGGCAGCAGCGCCGTGGGGGGTGGGGCTGCAGTTGGGGATGACTCACCCCCAATCCAGTGGGGGTGCCCAGACAAGCCCTCAGGCCATGGGTCCCGCCGGCCACTCCTGTGATTCAGCCATCTGTCTGGTGGGCCTCCTGGGCCCCACCCGGATCTCCTTGACAGGCAAGAAGCCCTGGCAAATGAGTGACTCTGGGCCGGTCTTAGGGAAACCAAGGTCCCCTTGGCCTGGATCCAAGTAACTCACCCCCTCTTTGTAGGGGATAAGCCGGAAGGAGGAGAGAACCTGTGTCATGCTTATGCATACATCCCAGTGTCCCACATCCCCTACCATGTCACAGGCAGATGCAATCCAGCTGTGCCTGCAGGGAGGGGGCCGCCCATCTGTGGAGGGCGGGACCACCCACAGTGACAGCTCATCTCTCAGGAATCGAGCCCTCCATGCCCCAGGCCAGGTCCCCCTACCTACATGTCCTCACCCACAGGCATCCTCTCCTTCCATCTACTTTTCTTGTAGGTCCCTGCCACCCATCTCCCCTACCAGGCCGAGGTCCCCTTGGGCCCCTTCCTCCTTTCCTCACTGCCCTCATGGTACCTGTAGCTTCCAGCTTCATAACTGCCCCCTACCTTACTCCTGTCCCCTTACCCAGGCTGACTTCACACCCTCCCCCAGCTTCGCTTCTGAGGCTGTGGACAGTCCTCCAACACACACCACGCCAGGGCCACTGTCCGAAGGAGGTGGGGCTCTGTATATGCATATCTCTCCATTAGATGGGTGACACTAAGGCAGAGAGGCACTGCTAAGAAGGGCAGGCCCCCATCTGGGTCCTGCTCCCCCTTTTTTTCCTGCTAATCCTGAATAACTCTGGGCAGCCCAGAAAGCACATCTATACTCACCAAGGCTGCTGGGCCCCTTCTAATATGCCCGGCCCCACAGCCTCCCCTGGGATCCACAGGGAGATATGGGGACAGCACTGGCTGGACTCCTCCACAGCCCGAGGACTCTGGTGTGGCCAGAGCTGGAGGCAGTGAAGACCATCCATGCTGCCTGCTTTCCTATTGCCCAAGGAAGGCTGGGGCTCTATCCCTTATTACTGACCCCCCAAACTATCCTGGGGCATAGTGCTATGACCTTATTCCAAGGTCAGGGTCTCCTCAGCCATGTCCCAGGACCCCCCATCCCTGCAAGGTGTGCTCCAGGTGGGGGGCTGCAGAGAACCAGGTATGTTATCACACAGGCAGCCCCTTCCCCCTAAGACTGTCACCTCCTCCCGTGCAGCCAGGGCGGGCAAGAGCAGGCCAGTGGCATGGACAGTACGGTACAGACATATGTGCACACGTGGGCCAGTCTTAGGGGAGACAGGAGGCCCAGCTGGGAGGGTGGGTGCTCAGGCAAACCTCATCAGAATTGAGGTGCCTCCAAAAGAAAGGACAGGCTGCTGTGAGAGGGTCTCTCAAAGGGTGCTGGGAGAGGCTGTTGAGAAGGTAGGAGTAAGGTTGGAATGACTCCACGTCTGGAGCTTCTATGAGACTCACGAGCAGGAGTGTGGCCCTCTGAAGCCCCAGCTCTGGCCTCCTGGGAGGAACACAGCC
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Task1_train_6988
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This is a variant in UQCRC1 (ubiquinol-cytochrome c reductase core protein 1), located on Chromosome 3. Is this mutation a likely cause of disease or not?
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Pathogenic; Parkinsonism with polyneuropathy
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ATCTACTGCCCCATGGACTCCATGCCAATGCCAAAAGAGGGATGACACACTTCTCAGCAGAGGATTTTATTGGTGGTCACCTGTGGCACAGGTTAGAGGAGCCGAAGTGCTGTGTTTGTGGTGGGGGGGGGACCACAAACCCCGGCCCTGCCCTCTTGCTTACATAGGCTTCCCGCCTAGAAGCGCAGCCAGAACATGCCGCTACGGATCCGGTTGTAGTCTGGGAGCTGCTCAATGGGGCCTGTGGGGATAGGGTGGAGCGTCAGGGTGGGGTACCTGGCCTGCACAGGGACACCTGGCCCTGTGCCGCACCCAGCTCGGAGATGCTGCCCAGAGCAGCACAAGACAGGCTTTGAGTGGAAAGAGAGGAGAGAACATTCCCCCAGGGGTGCTGAGCCTGTCCCTTCATGTTCTGGCCCTTGAAGCCCCACCCCACATGGAGGTGCCCGTTACCTGACGGGTGCAGGGTATTGATGAAGGCACCTTGGCAGGCAGTCAAGGAACTGCTGGGACAGGTTTTCTGAGCAAGAACTCCCTGGCAGCCAGGGGACTGGGGAGAGCTGCTTGGGGCCTTAACTGGCTGCTCTGTAAGCTGAGCAGCAGTGCGGGAGCAGAGGTGGAAGGGGAGGCCAAGAGAACGGCCTGAGGAAATAAACAAAGAGCAGACCCCCTAGGCCACTTACCATATCCAGCCACTGCTGGGCACTGGTCATAGATGTACTTGGAGCAGATCTCACGTACCACACTGGCATCCACCTCCTGCAGGGTGAGGCAGAGGGCATACTGGCTAACGGGCACCTGGCCACCACCTCAGCCAGTCAGCATCATCCAACTAGCAGAGATCTCCCACAGGCAGCATGCAGCTGTCCCCAGCCCAAAAGAGGAAAGGCAGAAGGGATCCCTGCTATAGACCTCCATGGGCCCCGCCCATCTCCACAGCCATCAGCACCTATGCCCTGCCCTCCCACTATGCTACCCCTGCAGGTGACAGCTGCCTAGGACACCAGGGATGCCTATAGGAGCAGGCTGCGCTATGCCAGGCCCCAACCCTACACCTCCCAGGTGTCTGCCAGGCCAAGACTCCAGAACCTCTCCCAGGGGTCCATGTTACCGCAATCCGGCTTTCCCATTCAGCCAGGGGGATGCGGCGGCCATAGGTCAGGAGGCTGCGTCCGATGTCCTCACACACAGGAGTAGTGCCTTTAAGGGTGAGAGAAGGCTCAGAGGTCCACCCAGCCCAATCCTGGACCCACAGGTACACAAACAATCTCCAGCCTCAGGTTGACAAGGACCTCCCTGACCTCATGCTGACTCAGATCACAGCCCTCTCTTCTATGGTCACCTATTATGGCAGTGATGGGCTGTGGACCTGTCTCACACCTGCCTGCATCTCCAAGGGTGGGGTGATGGGGCATGGCGTGGTCTTCAAAGTTTTCCTTTCTAACCTTGGTTAGTTAGGAGCAGTGGCCACCTTGGTGCTGTCGCTGGCAAGATGTACTCTACCCCTCCCCGCTGAGCTGTAGGACTCACCATCTAGATGAGATACCAGGGCATTTCTGAGGATGTTTTTGCCCCGGGCCACCTCACTCTCCGTGGCACTGGTACACAGGCGCATCCTAAAGTGGGGGGGTGGGTGGTATTCATTCTGAGCCAGTGTGTCATCTCTCAGCCTCCCACTGTGCTGGTTAAAGCCGCCATCCCACCTAGGAATACCAGGCTGCCACTTACCACTGCCCTTGCAGGACGAACATCATGTCATCGATTTTCATTCGGTCACAGACAAAGTGTGCACCCAGCAAGCCCGTCTCTGCATAGCAGATGCTGAAGGTCTGGAAACTCTGGCATAGCTTGTTGGCCACAGCACCTGAAGCCAGTGGGCTGGACAGGTGCTGCCAGGGGGATAGGTGGTCAGCACCCACCCTCTTGTCTTCAACGCACACTGTGACCCCCACGCACAGGAGCACACAGCCCCAGCACCCTCTCTTCCCTGAAGGCGAGGTCCCATGCTCGCGCTGGCACTCACCACGCCACCACCATAAGTGCAGTCATAGTGGCCGATGATGGCATTGGCCACTTGCAAGGCCACATTGTCCGGGCTGGCCCAGCCAGGACCCTCTACTGCAATGGCCACGTGGGCAAAAGGTAGAGCATCATCACGGTGGCGGATCTGAAACAGTACATGACAAGGCTGAGGAACAGCCAGACTGCCAGGGGAACAGAAAAGGTGGCAGGTGTGGGTAGAGGGTGTATGTGTGTGAACATGTGTGCCTGTGATGCAGCAGCCACAGAACCCCTTCCCAACTGCTGAGGTATCTCTGGAGTCACCAGGATAACCATGCACATGGGGGTCCTCCCACAGGCCCCCAGCTGAGCACTACTCCTGCCCAAAAGGCAGCATACCTCACTGCCAGTGAAGCGGCATGGAGTAAGAGTGGGCACAGCGTCCTCTGCATATGTCCATGGGATGCCACCGAGGTGCTTCTGGGCGAGGTCTAACAGTTGCTGGTGCTCCACTCCTGCTGAGACAGACAGTGGCATTACTGACCAGCCAGGGCCCAAGGCACAGGGTGGGGCGATTCACAGACAGGCAGAGGACCCCCATGTCCTGTCTTAGTGGGAGAAACCAGGAGTATGTGACATTAGAACAGGGTGAGGAAAGAAGGTCCTCCTCAGACAGACCCTGCCTTGTGGACAGGACAGGCACCTCAGGGCCAAATAGCTCCCATGGCCTCAGTCCCAGGAGAGCAAAAGCGTTCAGAGTTTCAAAATGGGCTGCCATGTGATCCAAGTGTGGGTTCTCACTTGAGAAGATGCATTCCACCTACATCAAGGACAAGACTGGTACTCCTGGGCACAAAGCCACCTGGCCTGCCTTTTCCCTCTAGCTCTCCCTCAAGTATTTCTGGCTGCTGGCCCTGCAGGGGGTGGCAAGTGAGGGGGCAGAAAGAGGAGCTATTACAGGGCTGTGATTAGCTCTTGGGTCCCCTGAGAGCTGGGGACATTTGCAAATAATGTTACAAACGTATACCCTAGGACTCCTTGGATCTTGCCTCCTCACCTCCACAAGAGGAGGGCTCTGTGGTGCCACCAGTTGCATTGGCCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGCACAGTGGTGCAATCTCAGCTAACTGCAAGCTCCACCTCCCGGGTCCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAGCTCCTGATCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCGTTGGCCTTTCATTCCTTCCTTCCATGAGCTCAAGCCCTGCTAGTCTGACACACACGTCAGATTGCTCTTGCCCCCAGGTTCCCCAGCTCCAAAGCCCCTGGTCATGCTCTTCCTATTGGTCTTTTCTGCACACTCAGCCGCCAAGGTCATAAGCTGGGAAGCATGTTTGTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTGTTGTGCAGGCCGGAGTGCAGTGGTACAATCTCAGCTCGCTGCAACCTCCGTCCCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTATAGGCAACTGCCACCAAGCCTGGCTAATTTTTGTATTTTTACCAGAGACGGGGTTTTGTCACGTTGGCTGGGCTGGTCTCGAACTCCTTACCTCAGGTGATTCACCCACCTCGGCCTTCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGACCAGCCAAGATGGGAAGCACCTTGACCTCAGTTCCTTACCCATGTCCAGACCCCAACCAGGTTCCATCTATAAAACCACCTGGAGTCCATCTACTGCTCCCCCTTGCTCCTGCCATCTCCTGCCCAGTCCCTGCCACAGCCCCTCTCTAGCCAGCCTACCTGCACTGTGACCCCACACAGCAGCAGAGCAAACCTTAGACCATGACACTGCTCTTCCCCTGCGCTCAGCTC
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ATCTACTGCCCCATGGACTCCATGCCAATGCCAAAAGAGGGATGACACACTTCTCAGCAGAGGATTTTATTGGTGGTCACCTGTGGCACAGGTTAGAGGAGCCGAAGTGCTGTGTTTGTGGTGGGGGGGGGACCACAAACCCCGGCCCTGCCCTCTTGCTTACATAGGCTTCCCGCCTAGAAGCGCAGCCAGAACATGCCGCTACGGATCCGGTTGTAGTCTGGGAGCTGCTCAATGGGGCCTGTGGGGATAGGGTGGAGCGTCAGGGTGGGGTACCTGGCCTGCACAGGGACACCTGGCCCTGTGCCGCACCCAGCTCGGAGATGCTGCCCAGAGCAGCACAAGACAGGCTTTGAGTGGAAAGAGAGGAGAGAACATTCCCCCAGGGGTGCTGAGCCTGTCCCTTCATGTTCTGGCCCTTGAAGCCCCACCCCACATGGAGGTGCCCGTTACCTGACGGGTGCAGGGTATTGATGAAGGCACCTTGGCAGGCAGTCAAGGAACTGCTGGGACAGGTTTTCTGAGCAAGAACTCCCTGGCAGCCAGGGGACTGGGGAGAGCTGCTTGGGGCCTTAACTGGCTGCTCTGTAAGCTGAGCAGCAGTGCGGGAGCAGAGGTGGAAGGGGAGGCCAAGAGAACGGCCTGAGGAAATAAACAAAGAGCAGACCCCCTAGGCCACTTACCATATCCAGCCACTGCTGGGCACTGGTCATAGATGTACTTGGAGCAGATCTCACGTACCACACTGGCATCCACCTCCTGCAGGGTGAGGCAGAGGGCATACTGGCTAACGGGCACCTGGCCACCACCTCAGCCAGTCAGCATCATCCAACTAGCAGAGATCTCCCACAGGCAGCATGCAGCTGTCCCCAGCCCAAAAGAGGAAAGGCAGAAGGGATCCCTGCTATAGACCTCCATGGGCCCCGCCCATCTCCACAGCCATCAGCACCTATGCCCTGCCCTCCCACTATGCTACCCCTGCAGGTGACAGCTGCCTAGGACACCAGGGATGCCTATAGGAGCAGGCTGCGCTATGCCAGGCCCCAACCCTACACCTCCCAGGTGTCTGCCAGGCCAAGACTCCAGAACCTCTCCCAGGGGTCCATGTTACCGCAATCCGGCTTTCCCATTCAGCCAGGGGGATGCGGCGGCCATAGGTCAGGAGGCTGCGTCCGATGTCCTCACACACAGGAGTAGTGCCTTTAAGGGTGAGAGAAGGCTCAGAGGTCCACCCAGCCCAATCCTGGACCCACAGGTACACAAACAATCTCCAGCCTCAGGTTGACAAGGACCTCCCTGACCTCATGCTGACTCAGATCACAGCCCTCTCTTCTATGGTCACCTATTATGGCAGTGATGGGCTGTGGACCTGTCTCACACCTGCCTGCATCTCCAAGGGTGGGGTGATGGGGCATGGCGTGGTCTTCAAAGTTTTCCTTTCTAACCTTGGTTAGTTAGGAGCAGTGGCCACCTTGGTGCTGTCGCTGGCAAGATGTACTCTACCCCTCCCCGCTGAGCTGTAGGACTCACCATCTAGATGAGATACCAGGGCATTTCTGAGGATGTTTTTGCCCCGGGCCACCTCACTCTCCGTGGCACTGGTACACAGGCGCATCCTAAAGTGGGGGGGTGGGTGGTATTCATTCTGAGCCAGTGTGTCATCTCTCAGCCTCCCACTGTGCTGGTTAAAGCCGCCATCCCACCTAGGAATACCAGGCTGCCACTTACCACTGCCCTTGCAGGACGAACATCATGTCATCGATTTTCATTCGGTCACAGACAAAGTGTGCACCCAGCAAGCCCGTCTCTGCATAGCAGATGCTGAAGGTCTGGAAACTCTGGCATAGCTTGTTGGCCACAGCACCTGAAGCCAGTGGGCTGGACAGGTGCTGCCAGGGGGATAGGTGGTCAGCACCCACCCTCTTGTCTTCAACGCACACTGTGACCCCCACGCACAGGAGCACACAGCCCCAGCACCCTCTCTTCCCTGAAGGCGAGGTCCCATGCTCGCGCTGGCACTCACCACGCCACCACCATAAGTGCAGTCAGAGTGGCCGATGATGGCATTGGCCACTTGCAAGGCCACATTGTCCGGGCTGGCCCAGCCAGGACCCTCTACTGCAATGGCCACGTGGGCAAAAGGTAGAGCATCATCACGGTGGCGGATCTGAAACAGTACATGACAAGGCTGAGGAACAGCCAGACTGCCAGGGGAACAGAAAAGGTGGCAGGTGTGGGTAGAGGGTGTATGTGTGTGAACATGTGTGCCTGTGATGCAGCAGCCACAGAACCCCTTCCCAACTGCTGAGGTATCTCTGGAGTCACCAGGATAACCATGCACATGGGGGTCCTCCCACAGGCCCCCAGCTGAGCACTACTCCTGCCCAAAAGGCAGCATACCTCACTGCCAGTGAAGCGGCATGGAGTAAGAGTGGGCACAGCGTCCTCTGCATATGTCCATGGGATGCCACCGAGGTGCTTCTGGGCGAGGTCTAACAGTTGCTGGTGCTCCACTCCTGCTGAGACAGACAGTGGCATTACTGACCAGCCAGGGCCCAAGGCACAGGGTGGGGCGATTCACAGACAGGCAGAGGACCCCCATGTCCTGTCTTAGTGGGAGAAACCAGGAGTATGTGACATTAGAACAGGGTGAGGAAAGAAGGTCCTCCTCAGACAGACCCTGCCTTGTGGACAGGACAGGCACCTCAGGGCCAAATAGCTCCCATGGCCTCAGTCCCAGGAGAGCAAAAGCGTTCAGAGTTTCAAAATGGGCTGCCATGTGATCCAAGTGTGGGTTCTCACTTGAGAAGATGCATTCCACCTACATCAAGGACAAGACTGGTACTCCTGGGCACAAAGCCACCTGGCCTGCCTTTTCCCTCTAGCTCTCCCTCAAGTATTTCTGGCTGCTGGCCCTGCAGGGGGTGGCAAGTGAGGGGGCAGAAAGAGGAGCTATTACAGGGCTGTGATTAGCTCTTGGGTCCCCTGAGAGCTGGGGACATTTGCAAATAATGTTACAAACGTATACCCTAGGACTCCTTGGATCTTGCCTCCTCACCTCCACAAGAGGAGGGCTCTGTGGTGCCACCAGTTGCATTGGCCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGCACAGTGGTGCAATCTCAGCTAACTGCAAGCTCCACCTCCCGGGTCCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAGCTCCTGATCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCGTTGGCCTTTCATTCCTTCCTTCCATGAGCTCAAGCCCTGCTAGTCTGACACACACGTCAGATTGCTCTTGCCCCCAGGTTCCCCAGCTCCAAAGCCCCTGGTCATGCTCTTCCTATTGGTCTTTTCTGCACACTCAGCCGCCAAGGTCATAAGCTGGGAAGCATGTTTGTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTGTTGTGCAGGCCGGAGTGCAGTGGTACAATCTCAGCTCGCTGCAACCTCCGTCCCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTATAGGCAACTGCCACCAAGCCTGGCTAATTTTTGTATTTTTACCAGAGACGGGGTTTTGTCACGTTGGCTGGGCTGGTCTCGAACTCCTTACCTCAGGTGATTCACCCACCTCGGCCTTCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGACCAGCCAAGATGGGAAGCACCTTGACCTCAGTTCCTTACCCATGTCCAGACCCCAACCAGGTTCCATCTATAAAACCACCTGGAGTCCATCTACTGCTCCCCCTTGCTCCTGCCATCTCCTGCCCAGTCCCTGCCACAGCCCCTCTCTAGCCAGCCTACCTGCACTGTGACCCCACACAGCAGCAGAGCAAACCTTAGACCATGACACTGCTCTTCCCCTGCGCTCAGCTC
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Task1_train_6989
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Given a variant located on Chromosome 3 and affecting UQCRC1 (ubiquinol-cytochrome c reductase core protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Parkinsonism with polyneuropathy
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CCATGGACTCCATGCCAATGCCAAAAGAGGGATGACACACTTCTCAGCAGAGGATTTTATTGGTGGTCACCTGTGGCACAGGTTAGAGGAGCCGAAGTGCTGTGTTTGTGGTGGGGGGGGGACCACAAACCCCGGCCCTGCCCTCTTGCTTACATAGGCTTCCCGCCTAGAAGCGCAGCCAGAACATGCCGCTACGGATCCGGTTGTAGTCTGGGAGCTGCTCAATGGGGCCTGTGGGGATAGGGTGGAGCGTCAGGGTGGGGTACCTGGCCTGCACAGGGACACCTGGCCCTGTGCCGCACCCAGCTCGGAGATGCTGCCCAGAGCAGCACAAGACAGGCTTTGAGTGGAAAGAGAGGAGAGAACATTCCCCCAGGGGTGCTGAGCCTGTCCCTTCATGTTCTGGCCCTTGAAGCCCCACCCCACATGGAGGTGCCCGTTACCTGACGGGTGCAGGGTATTGATGAAGGCACCTTGGCAGGCAGTCAAGGAACTGCTGGGACAGGTTTTCTGAGCAAGAACTCCCTGGCAGCCAGGGGACTGGGGAGAGCTGCTTGGGGCCTTAACTGGCTGCTCTGTAAGCTGAGCAGCAGTGCGGGAGCAGAGGTGGAAGGGGAGGCCAAGAGAACGGCCTGAGGAAATAAACAAAGAGCAGACCCCCTAGGCCACTTACCATATCCAGCCACTGCTGGGCACTGGTCATAGATGTACTTGGAGCAGATCTCACGTACCACACTGGCATCCACCTCCTGCAGGGTGAGGCAGAGGGCATACTGGCTAACGGGCACCTGGCCACCACCTCAGCCAGTCAGCATCATCCAACTAGCAGAGATCTCCCACAGGCAGCATGCAGCTGTCCCCAGCCCAAAAGAGGAAAGGCAGAAGGGATCCCTGCTATAGACCTCCATGGGCCCCGCCCATCTCCACAGCCATCAGCACCTATGCCCTGCCCTCCCACTATGCTACCCCTGCAGGTGACAGCTGCCTAGGACACCAGGGATGCCTATAGGAGCAGGCTGCGCTATGCCAGGCCCCAACCCTACACCTCCCAGGTGTCTGCCAGGCCAAGACTCCAGAACCTCTCCCAGGGGTCCATGTTACCGCAATCCGGCTTTCCCATTCAGCCAGGGGGATGCGGCGGCCATAGGTCAGGAGGCTGCGTCCGATGTCCTCACACACAGGAGTAGTGCCTTTAAGGGTGAGAGAAGGCTCAGAGGTCCACCCAGCCCAATCCTGGACCCACAGGTACACAAACAATCTCCAGCCTCAGGTTGACAAGGACCTCCCTGACCTCATGCTGACTCAGATCACAGCCCTCTCTTCTATGGTCACCTATTATGGCAGTGATGGGCTGTGGACCTGTCTCACACCTGCCTGCATCTCCAAGGGTGGGGTGATGGGGCATGGCGTGGTCTTCAAAGTTTTCCTTTCTAACCTTGGTTAGTTAGGAGCAGTGGCCACCTTGGTGCTGTCGCTGGCAAGATGTACTCTACCCCTCCCCGCTGAGCTGTAGGACTCACCATCTAGATGAGATACCAGGGCATTTCTGAGGATGTTTTTGCCCCGGGCCACCTCACTCTCCGTGGCACTGGTACACAGGCGCATCCTAAAGTGGGGGGGTGGGTGGTATTCATTCTGAGCCAGTGTGTCATCTCTCAGCCTCCCACTGTGCTGGTTAAAGCCGCCATCCCACCTAGGAATACCAGGCTGCCACTTACCACTGCCCTTGCAGGACGAACATCATGTCATCGATTTTCATTCGGTCACAGACAAAGTGTGCACCCAGCAAGCCCGTCTCTGCATAGCAGATGCTGAAGGTCTGGAAACTCTGGCATAGCTTGTTGGCCACAGCACCTGAAGCCAGTGGGCTGGACAGGTGCTGCCAGGGGGATAGGTGGTCAGCACCCACCCTCTTGTCTTCAACGCACACTGTGACCCCCACGCACAGGAGCACACAGCCCCAGCACCCTCTCTTCCCTGAAGGCGAGGTCCCATGCTCGCGCTGGCACTCACCACGCCACCACCATAAGTGCAGTCATAGTGGCCGATGATGGCATTGGCCACTTGCAAGGCCACATTGTCCGGGCTGGCCCAGCCAGGACCCTCTACTGCAATGGCCACGTGGGCAAAAGGTAGAGCATCATCACGGTGGCGGATCTGAAACAGTACATGACAAGGCTGAGGAACAGCCAGACTGCCAGGGGAACAGAAAAGGTGGCAGGTGTGGGTAGAGGGTGTATGTGTGTGAACATGTGTGCCTGTGATGCAGCAGCCACAGAACCCCTTCCCAACTGCTGAGGTATCTCTGGAGTCACCAGGATAACCATGCACATGGGGGTCCTCCCACAGGCCCCCAGCTGAGCACTACTCCTGCCCAAAAGGCAGCATACCTCACTGCCAGTGAAGCGGCATGGAGTAAGAGTGGGCACAGCGTCCTCTGCATATGTCCATGGGATGCCACCGAGGTGCTTCTGGGCGAGGTCTAACAGTTGCTGGTGCTCCACTCCTGCTGAGACAGACAGTGGCATTACTGACCAGCCAGGGCCCAAGGCACAGGGTGGGGCGATTCACAGACAGGCAGAGGACCCCCATGTCCTGTCTTAGTGGGAGAAACCAGGAGTATGTGACATTAGAACAGGGTGAGGAAAGAAGGTCCTCCTCAGACAGACCCTGCCTTGTGGACAGGACAGGCACCTCAGGGCCAAATAGCTCCCATGGCCTCAGTCCCAGGAGAGCAAAAGCGTTCAGAGTTTCAAAATGGGCTGCCATGTGATCCAAGTGTGGGTTCTCACTTGAGAAGATGCATTCCACCTACATCAAGGACAAGACTGGTACTCCTGGGCACAAAGCCACCTGGCCTGCCTTTTCCCTCTAGCTCTCCCTCAAGTATTTCTGGCTGCTGGCCCTGCAGGGGGTGGCAAGTGAGGGGGCAGAAAGAGGAGCTATTACAGGGCTGTGATTAGCTCTTGGGTCCCCTGAGAGCTGGGGACATTTGCAAATAATGTTACAAACGTATACCCTAGGACTCCTTGGATCTTGCCTCCTCACCTCCACAAGAGGAGGGCTCTGTGGTGCCACCAGTTGCATTGGCCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGCACAGTGGTGCAATCTCAGCTAACTGCAAGCTCCACCTCCCGGGTCCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAGCTCCTGATCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCGTTGGCCTTTCATTCCTTCCTTCCATGAGCTCAAGCCCTGCTAGTCTGACACACACGTCAGATTGCTCTTGCCCCCAGGTTCCCCAGCTCCAAAGCCCCTGGTCATGCTCTTCCTATTGGTCTTTTCTGCACACTCAGCCGCCAAGGTCATAAGCTGGGAAGCATGTTTGTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTGTTGTGCAGGCCGGAGTGCAGTGGTACAATCTCAGCTCGCTGCAACCTCCGTCCCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTATAGGCAACTGCCACCAAGCCTGGCTAATTTTTGTATTTTTACCAGAGACGGGGTTTTGTCACGTTGGCTGGGCTGGTCTCGAACTCCTTACCTCAGGTGATTCACCCACCTCGGCCTTCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGACCAGCCAAGATGGGAAGCACCTTGACCTCAGTTCCTTACCCATGTCCAGACCCCAACCAGGTTCCATCTATAAAACCACCTGGAGTCCATCTACTGCTCCCCCTTGCTCCTGCCATCTCCTGCCCAGTCCCTGCCACAGCCCCTCTCTAGCCAGCCTACCTGCACTGTGACCCCACACAGCAGCAGAGCAAACCTTAGACCATGACACTGCTCTTCCCCTGCGCTCAGCTCCCCACACCCC
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CCATGGACTCCATGCCAATGCCAAAAGAGGGATGACACACTTCTCAGCAGAGGATTTTATTGGTGGTCACCTGTGGCACAGGTTAGAGGAGCCGAAGTGCTGTGTTTGTGGTGGGGGGGGGACCACAAACCCCGGCCCTGCCCTCTTGCTTACATAGGCTTCCCGCCTAGAAGCGCAGCCAGAACATGCCGCTACGGATCCGGTTGTAGTCTGGGAGCTGCTCAATGGGGCCTGTGGGGATAGGGTGGAGCGTCAGGGTGGGGTACCTGGCCTGCACAGGGACACCTGGCCCTGTGCCGCACCCAGCTCGGAGATGCTGCCCAGAGCAGCACAAGACAGGCTTTGAGTGGAAAGAGAGGAGAGAACATTCCCCCAGGGGTGCTGAGCCTGTCCCTTCATGTTCTGGCCCTTGAAGCCCCACCCCACATGGAGGTGCCCGTTACCTGACGGGTGCAGGGTATTGATGAAGGCACCTTGGCAGGCAGTCAAGGAACTGCTGGGACAGGTTTTCTGAGCAAGAACTCCCTGGCAGCCAGGGGACTGGGGAGAGCTGCTTGGGGCCTTAACTGGCTGCTCTGTAAGCTGAGCAGCAGTGCGGGAGCAGAGGTGGAAGGGGAGGCCAAGAGAACGGCCTGAGGAAATAAACAAAGAGCAGACCCCCTAGGCCACTTACCATATCCAGCCACTGCTGGGCACTGGTCATAGATGTACTTGGAGCAGATCTCACGTACCACACTGGCATCCACCTCCTGCAGGGTGAGGCAGAGGGCATACTGGCTAACGGGCACCTGGCCACCACCTCAGCCAGTCAGCATCATCCAACTAGCAGAGATCTCCCACAGGCAGCATGCAGCTGTCCCCAGCCCAAAAGAGGAAAGGCAGAAGGGATCCCTGCTATAGACCTCCATGGGCCCCGCCCATCTCCACAGCCATCAGCACCTATGCCCTGCCCTCCCACTATGCTACCCCTGCAGGTGACAGCTGCCTAGGACACCAGGGATGCCTATAGGAGCAGGCTGCGCTATGCCAGGCCCCAACCCTACACCTCCCAGGTGTCTGCCAGGCCAAGACTCCAGAACCTCTCCCAGGGGTCCATGTTACCGCAATCCGGCTTTCCCATTCAGCCAGGGGGATGCGGCGGCCATAGGTCAGGAGGCTGCGTCCGATGTCCTCACACACAGGAGTAGTGCCTTTAAGGGTGAGAGAAGGCTCAGAGGTCCACCCAGCCCAATCCTGGACCCACAGGTACACAAACAATCTCCAGCCTCAGGTTGACAAGGACCTCCCTGACCTCATGCTGACTCAGATCACAGCCCTCTCTTCTATGGTCACCTATTATGGCAGTGATGGGCTGTGGACCTGTCTCACACCTGCCTGCATCTCCAAGGGTGGGGTGATGGGGCATGGCGTGGTCTTCAAAGTTTTCCTTTCTAACCTTGGTTAGTTAGGAGCAGTGGCCACCTTGGTGCTGTCGCTGGCAAGATGTACTCTACCCCTCCCCGCTGAGCTGTAGGACTCACCATCTAGATGAGATACCAGGGCATTTCTGAGGATGTTTTTGCCCCGGGCCACCTCACTCTCCGTGGCACTGGTACACAGGCGCATCCTAAAGTGGGGGGGTGGGTGGTATTCATTCTGAGCCAGTGTGTCATCTCTCAGCCTCCCACTGTGCTGGTTAAAGCCGCCATCCCACCTAGGAATACCAGGCTGCCACTTACCACTGCCCTTGCAGGACGAACATCATGTCATCGATTTTCATTCGGTCACAGACAAAGTGTGCACCCAGCAAGCCCGTCTCTGCATAGCAGATGCTGAAGGTCTGGAAACTCTGGCATAGCTTGTTGGCCACAGCACCTGAAGCCAGTGGGCTGGACAGGTGCTGCCAGGGGGATAGGTGGTCAGCACCCACCCTCTTGTCTTCAACGCACACTGTGACCCCCACGCACAGGAGCACACAGCCCCAGCACCCTCTCTTCCCTGAAGGCGAGGTCCCATGCTCGCGCTGGCACTCACCACGCCACCACCATAAGTGCAGTCATAGTGGCCGAGGATGGCATTGGCCACTTGCAAGGCCACATTGTCCGGGCTGGCCCAGCCAGGACCCTCTACTGCAATGGCCACGTGGGCAAAAGGTAGAGCATCATCACGGTGGCGGATCTGAAACAGTACATGACAAGGCTGAGGAACAGCCAGACTGCCAGGGGAACAGAAAAGGTGGCAGGTGTGGGTAGAGGGTGTATGTGTGTGAACATGTGTGCCTGTGATGCAGCAGCCACAGAACCCCTTCCCAACTGCTGAGGTATCTCTGGAGTCACCAGGATAACCATGCACATGGGGGTCCTCCCACAGGCCCCCAGCTGAGCACTACTCCTGCCCAAAAGGCAGCATACCTCACTGCCAGTGAAGCGGCATGGAGTAAGAGTGGGCACAGCGTCCTCTGCATATGTCCATGGGATGCCACCGAGGTGCTTCTGGGCGAGGTCTAACAGTTGCTGGTGCTCCACTCCTGCTGAGACAGACAGTGGCATTACTGACCAGCCAGGGCCCAAGGCACAGGGTGGGGCGATTCACAGACAGGCAGAGGACCCCCATGTCCTGTCTTAGTGGGAGAAACCAGGAGTATGTGACATTAGAACAGGGTGAGGAAAGAAGGTCCTCCTCAGACAGACCCTGCCTTGTGGACAGGACAGGCACCTCAGGGCCAAATAGCTCCCATGGCCTCAGTCCCAGGAGAGCAAAAGCGTTCAGAGTTTCAAAATGGGCTGCCATGTGATCCAAGTGTGGGTTCTCACTTGAGAAGATGCATTCCACCTACATCAAGGACAAGACTGGTACTCCTGGGCACAAAGCCACCTGGCCTGCCTTTTCCCTCTAGCTCTCCCTCAAGTATTTCTGGCTGCTGGCCCTGCAGGGGGTGGCAAGTGAGGGGGCAGAAAGAGGAGCTATTACAGGGCTGTGATTAGCTCTTGGGTCCCCTGAGAGCTGGGGACATTTGCAAATAATGTTACAAACGTATACCCTAGGACTCCTTGGATCTTGCCTCCTCACCTCCACAAGAGGAGGGCTCTGTGGTGCCACCAGTTGCATTGGCCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGCACAGTGGTGCAATCTCAGCTAACTGCAAGCTCCACCTCCCGGGTCCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAGCTCCTGATCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCGTTGGCCTTTCATTCCTTCCTTCCATGAGCTCAAGCCCTGCTAGTCTGACACACACGTCAGATTGCTCTTGCCCCCAGGTTCCCCAGCTCCAAAGCCCCTGGTCATGCTCTTCCTATTGGTCTTTTCTGCACACTCAGCCGCCAAGGTCATAAGCTGGGAAGCATGTTTGTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTGTTGTGCAGGCCGGAGTGCAGTGGTACAATCTCAGCTCGCTGCAACCTCCGTCCCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTATAGGCAACTGCCACCAAGCCTGGCTAATTTTTGTATTTTTACCAGAGACGGGGTTTTGTCACGTTGGCTGGGCTGGTCTCGAACTCCTTACCTCAGGTGATTCACCCACCTCGGCCTTCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGACCAGCCAAGATGGGAAGCACCTTGACCTCAGTTCCTTACCCATGTCCAGACCCCAACCAGGTTCCATCTATAAAACCACCTGGAGTCCATCTACTGCTCCCCCTTGCTCCTGCCATCTCCTGCCCAGTCCCTGCCACAGCCCCTCTCTAGCCAGCCTACCTGCACTGTGACCCCACACAGCAGCAGAGCAAACCTTAGACCATGACACTGCTCTTCCCCTGCGCTCAGCTCCCCACACCCC
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Task1_train_6990
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The gene SLC25A20 (solute carrier family 25 member 20) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Carnitine acylcarnitine translocase deficiency
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TAGCATAATCTGCCTGATTAGTAAAGTTAAGCTAGCTACCTCAGATCGCACAGCAACTCCAAAGCCCACATGAAAACCCGAGATTGCTTTTGTCCTTTTAGAACAACTGACTCTCCATCTGTTAGCTCAGACACCCATGGTGCTCAGGGAAGAGAGGGGAATAAATGAAGGGATGGGTTGCAGGCTGGGCCTTGGGAGGGCCTGTCTGCCAGGCTTGCATTGAGGCCTGTGTGAACAATTACCAGTCGGGTCACACCACCCCACACACCCTCCCTAGAGCAGCCGGGGCTAGGGCAGTCAGAGAAGGCAGAGCCAGCCAAAACTTCCTCCTCCTCCACCTCCTCCTGCTGGATCCCCAGCCTAAGGTTCCCAGGGAAGAATACTGGATCCCTGAAAGCCTCCACCAAGGCTACAGGCTGCCTGCTGAAATGTCCCAGAATCAAAAGAAGAAAATATAACACAATGCAAAAATTAGAAACAACGTTTATTGTTTATTGTTAAAATAGTGAGCTCTCATGAGAAAAGAGTATGTAAAAAGGGCCTTCCTACACCCTGGGCTTTCTCACTTATCCCAGCAGACTGGGACTGTCCTCACTGTGTAGGAGGGAAAGTTCTCCACCTGCTCCCAGAAAATTAGGCTACTCCAGTTTTACTTTTGATTATTTGCAGGCATAAAAAAAAAAAATCAAAATCCAACGATTAACAGTCTATCTCCTCCTAGGCATATATGCTCAATCCACTTGGACACAGAGGTGGGCCTCAAGTCCATATCCACATGTACAGCCCAGGATTAGATGGCACCCTGGAAATCAAATGGGTATTCCTGGCTAGGGACTGAAGAAGATCTCAGCTCCTGGTGATCTGGTTGAAAATATGCACAGTGCCTCCAGTGAGAACCTGAGATTCTCTCTTTAATGAGGAATACTTTGACTGTGGTAGGACCAGCAGTTAACTGGTAGGCAGCATTCTTGCCACAGGTAGTATCTGGTCTGGAAGCTACTTGTTCCATTTCCAAATCCTTTTAAGATCCCTTAAATTGATAAGAATGAATTCAAGTTTCAAAATGACACACTAAGTTATACACGGTGCAGGATGTCATTAAGGCAACAGTCTCACCAAGTCCATGCACAGGGCTCGGATCTCACCATTCCCCTCCCCTTGCCCTCCAAGACTGCTTAGTTCTGCTTACTACTCCTTCTCCTCAACGACAGCTTCCAGCATCCAGAAGTGAACTTGAGCAGCCTTCAGCCTCACAAGTTGGGGGTGGCCCAATTAAGGAACTTCATGGCAACTTCAAAGCCAAGGAAACAGGCCTAAGAAGGGATTGGGAGGAAGAAAAAAGCCAGCAGGAATAACTATTCATAGACTATTCAAAGCACTATGCTTTGCTGGCCCTGTCAGGACCAGAGCCCCTCCCTAACCCCACACCCACTCCACATCAAGGATGCAAGCTCTACTCTCTCATTTTTAAGAGGAGAAGAAAATTTATATTCCACAACTGCCCACTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGTTGAAGTGCAATGGTACAATCTCGGCTCACTGCAATCTCTGCCTCCCAGGTTAAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGTGTTTCCCCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGATGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCACTAGCCACCATGCCTGGCCTCACAACTGCCCACTTCTAATGGCCAGGTCAGGAAATCAAAGCCCCTCACCTCAGAGATCCCCAAAGGCAAATCCTCCTGACAGCTTCAAGGAAGGGAGCAAATAAGGAATGCTCTGGCTGAAGATAGGGCTTTGGGAAAACTGAGACCCCAGTCCTATCCCAGGAACAAGCAAAAGTCAAACCACATGCACCCTGCCCTGAGCCCCAGAGGGAAAGCACAGCCCTGCCAGCTACTCACCGCATTGGCTGGGAAGGCTCGGATCATCACTGCATTGAACCCTTTGTACAAGGATGTGACTCCTTCATCCCGGATCAGCTCCCTCAGCACATCTCTGAAACCATTAGGATATTTCCCAGGAGGTGCTGTGGGGCAGAACCCAATTTTTAAGGCTTCAGGAAGGAGAAACTAGCAGTTAAGTCTTCCTGAAGGGTCAGGACTAGCACAGGGAAAGGACACCTTGCAGGTCATGTGGGACCAGTCCATAGACAACAGTTCACCTTGGGACAAATGCACAAATGCCTGAATTACTTGTGCCAAGGGAATAGAAACGAGGGAAGAAGAATGAAACAGCCCTTCTGTTCATGTGGGGGAGGAAGAGTGGACTTGACTTCTTATCACACTTACCTTGTGTTTAGGCTGTCATGAAAATGAATCTAGGGTTCCTAGAATGCAAATGACTGTGAGGGAGAATATTGGTCAGGCAGATGCTAGGTGCTGCCATGGAGAGTGAGTATCCCTAGGGCCTTATGAGCTTTGCACCCCAGGATTAGCCAGTGCTGGGGACCCACTCTCCCCCTGTCCACCCCACTACCTTCCACTCACCAGTCTGGAATCGAGACTTGAGCACATCTGGGGGGATTGCCACAGCCCAGTTGAAGATCCCTGCAATGCCCCCAGCCACCAAGATCCGAGGGGCACTGAGCTCACTGACCCTGTATAACACCAACCACAGCCCCAGTTAGACAAAGGCTGTGAGAGTGGCATTCAGACTATCCTGCCTGTGGCAGACAGGGCAGTTACAGACAGGCAGAAACTGGTTGGAGGGAGGAGGTATAAGGCCAGTGCTGCTGGCACTCCTTGGAGAAGGTTTCATGCACCTGTTTCAAATATTTGCTCCACTGGCTGAGGCACAGAGTAAGAAGAGCTAGCTGGACCTCAGCAGCCACAAGAGGAAAGCAGACATGGAGCCAGGAACAACAACTACTTCTGCTTTCAGATTCACCCACAGGAGAGGGCAACGCACCCATGACTGGGGAAAGTGGCTTCCAAGTTATGTTTTCCTCACCTCTTTCCCTCCGGAGTGAAGATATTTTTCAGCCATTCATATGTCATGAAATACATTCCACTAGCTGGGACATCTGTTAGTGGCAAGAAAAAGGTGAATTAAAGTACATAAACTCTTCGCCAGGCATGGTGGTACACACCTGTAATCTCAGCAATTTAGGAGATTGAGGCAGGGGGATTGCTTGAGGCCAGGAGGTCCGCGCTTGGCCTGAATTATTAGTAAAATTGTTTTTTAATTGGGTGACCAGATTTGGTTCAATTTATTTGCTTTCTAAACATTAGCGTATGGTAGTAATTTATGTAGACTAAAAAAGCATTAAAAAGAAAAAAATGCCAGGCATGGTAGCTCATAACTGTAATCCGAGCACTTTGGGAGGCTGAGGCAGGCACATCACCTGAGGCCAGGAATTCGAGACCAGTCTGGCCAATATGGCGAAAGCCTCGTCTCTACTAAAAATATAAAAATGGGCCGGGCATAGTGGCTCATGCCTTTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATACAAAAATACAAAAATGGCCAAGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCGGATCACGAGGTCAAGAGATTGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAATCCAGGAGGTGGAGGTTGCAGTAAGCTGA
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TAGCATAATCTGCCTGATTAGTAAAGTTAAGCTAGCTACCTCAGATCGCACAGCAACTCCAAAGCCCACATGAAAACCCGAGATTGCTTTTGTCCTTTTAGAACAACTGACTCTCCATCTGTTAGCTCAGACACCCATGGTGCTCAGGGAAGAGAGGGGAATAAATGAAGGGATGGGTTGCAGGCTGGGCCTTGGGAGGGCCTGTCTGCCAGGCTTGCATTGAGGCCTGTGTGAACAATTACCAGTCGGGTCACACCACCCCACACACCCTCCCTAGAGCAGCCGGGGCTAGGGCAGTCAGAGAAGGCAGAGCCAGCCAAAACTTCCTCCTCCTCCACCTCCTCCTGCTGGATCCCCAGCCTAAGGTTCCCAGGGAAGAATACTGGATCCCTGAAAGCCTCCACCAAGGCTACAGGCTGCCTGCTGAAATGTCCCAGAATCAAAAGAAGAAAATATAACACAATGCAAAAATTAGAAACAACGTTTATTGTTTATTGTTAAAATAGTGAGCTCTCATGAGAAAAGAGTATGTAAAAAGGGCCTTCCTACACCCTGGGCTTTCTCACTTATCCCAGCAGACTGGGACTGTCCTCACTGTGTAGGAGGGAAAGTTCTCCACCTGCTCCCAGAAAATTAGGCTACTCCAGTTTTACTTTTGATTATTTGCAGGCATAAAAAAAAAAAATCAAAATCCAACGATTAACAGTCTATCTCCTCCTAGGCATATATGCTCAATCCACTTGGACACAGAGGTGGGCCTCAAGTCCATATCCACATGTACAGCCCAGGATTAGATGGCACCCTGGAAATCAAATGGGTATTCCTGGCTAGGGACTGAAGAAGATCTCAGCTCCTGGTGATCTGGTTGAAAATATGCACAGTGCCTCCAGTGAGAACCTGAGATTCTCTCTTTAATGAGGAATACTTTGACTGTGGTAGGACCAGCAGTTAACTGGTAGGCAGCATTCTTGCCACAGGTAGTATCTGGTCTGGAAGCTACTTGTTCCATTTCCAAATCCTTTTAAGATCCCTTAAATTGATAAGAATGAATTCAAGTTTCAAAATGACACACTAAGTTATACACGGTGCAGGATGTCATTAAGGCAACAGTCTCACCAAGTCCATGCACAGGGCTCGGATCTCACCATTCCCCTCCCCTTGCCCTCCAAGACTGCTTAGTTCTGCTTACTACTCCTTCTCCTCAACGACAGCTTCCAGCATCCAGAAGTGAACTTGAGCAGCCTTCAGCCTCACAAGTTGGGGGTGGCCCAATTAAGGAACTTCATGGCAACTTCAAAGCCAAGGAAACAGGCCTAAGAAGGGATTGGGAGGAAGAAAAAAGCCAGCAGGAATAACTATTCATAGACTATTCAAAGCACTATGCTTTGCTGGCCCTGTCAGGACCAGAGCCCCTCCCTAACCCCACACCCACTCCACATCAAGGATGCAAGCTCTACTCTCTCATTTTTAAGAGGAGAAGAAAATTTATATTCCACAACTGCCCACTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGTTGAAGTGCAATGGTACAATCTCGGCTCACTGCAATCTCTGCCTCCCAGGTTAAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGTGTTTCCCCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGATGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCACTAGCCACCATGCCTGGCCTCACAACTGCCCACTTCTAATGGCCAGGTCAGGAAATCAAAGCCCCTCACCTCAGAGATCCCCAAAGGCAAATCCTCCTGACAGCTTCAAGGAAGGGAGCAAATAAGGAATGCTCTGGCTGAAGATAGGGCTTTGGGAAAACTGAGACCCCAGTCCTATCCCAGGAACAAGCAAAAGTCAAACCACATGCACCCTGCCCTGAGCCCCAGAGGGAAAGCACAGCCCTGCCAGCTACTCACCACATTGGCTGGGAAGGCTCGGATCATCACTGCATTGAACCCTTTGTACAAGGATGTGACTCCTTCATCCCGGATCAGCTCCCTCAGCACATCTCTGAAACCATTAGGATATTTCCCAGGAGGTGCTGTGGGGCAGAACCCAATTTTTAAGGCTTCAGGAAGGAGAAACTAGCAGTTAAGTCTTCCTGAAGGGTCAGGACTAGCACAGGGAAAGGACACCTTGCAGGTCATGTGGGACCAGTCCATAGACAACAGTTCACCTTGGGACAAATGCACAAATGCCTGAATTACTTGTGCCAAGGGAATAGAAACGAGGGAAGAAGAATGAAACAGCCCTTCTGTTCATGTGGGGGAGGAAGAGTGGACTTGACTTCTTATCACACTTACCTTGTGTTTAGGCTGTCATGAAAATGAATCTAGGGTTCCTAGAATGCAAATGACTGTGAGGGAGAATATTGGTCAGGCAGATGCTAGGTGCTGCCATGGAGAGTGAGTATCCCTAGGGCCTTATGAGCTTTGCACCCCAGGATTAGCCAGTGCTGGGGACCCACTCTCCCCCTGTCCACCCCACTACCTTCCACTCACCAGTCTGGAATCGAGACTTGAGCACATCTGGGGGGATTGCCACAGCCCAGTTGAAGATCCCTGCAATGCCCCCAGCCACCAAGATCCGAGGGGCACTGAGCTCACTGACCCTGTATAACACCAACCACAGCCCCAGTTAGACAAAGGCTGTGAGAGTGGCATTCAGACTATCCTGCCTGTGGCAGACAGGGCAGTTACAGACAGGCAGAAACTGGTTGGAGGGAGGAGGTATAAGGCCAGTGCTGCTGGCACTCCTTGGAGAAGGTTTCATGCACCTGTTTCAAATATTTGCTCCACTGGCTGAGGCACAGAGTAAGAAGAGCTAGCTGGACCTCAGCAGCCACAAGAGGAAAGCAGACATGGAGCCAGGAACAACAACTACTTCTGCTTTCAGATTCACCCACAGGAGAGGGCAACGCACCCATGACTGGGGAAAGTGGCTTCCAAGTTATGTTTTCCTCACCTCTTTCCCTCCGGAGTGAAGATATTTTTCAGCCATTCATATGTCATGAAATACATTCCACTAGCTGGGACATCTGTTAGTGGCAAGAAAAAGGTGAATTAAAGTACATAAACTCTTCGCCAGGCATGGTGGTACACACCTGTAATCTCAGCAATTTAGGAGATTGAGGCAGGGGGATTGCTTGAGGCCAGGAGGTCCGCGCTTGGCCTGAATTATTAGTAAAATTGTTTTTTAATTGGGTGACCAGATTTGGTTCAATTTATTTGCTTTCTAAACATTAGCGTATGGTAGTAATTTATGTAGACTAAAAAAGCATTAAAAAGAAAAAAATGCCAGGCATGGTAGCTCATAACTGTAATCCGAGCACTTTGGGAGGCTGAGGCAGGCACATCACCTGAGGCCAGGAATTCGAGACCAGTCTGGCCAATATGGCGAAAGCCTCGTCTCTACTAAAAATATAAAAATGGGCCGGGCATAGTGGCTCATGCCTTTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATACAAAAATACAAAAATGGCCAAGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCGGATCACGAGGTCAAGAGATTGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAATCCAGGAGGTGGAGGTTGCAGTAAGCTGA
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Task1_train_6991
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Assess the clinical impact of this variant on gene SLC25A20 (solute carrier family 25 member 20), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Carnitine acylcarnitine translocase deficiency
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CCTCACTGTGTAGGAGGGAAAGTTCTCCACCTGCTCCCAGAAAATTAGGCTACTCCAGTTTTACTTTTGATTATTTGCAGGCATAAAAAAAAAAAATCAAAATCCAACGATTAACAGTCTATCTCCTCCTAGGCATATATGCTCAATCCACTTGGACACAGAGGTGGGCCTCAAGTCCATATCCACATGTACAGCCCAGGATTAGATGGCACCCTGGAAATCAAATGGGTATTCCTGGCTAGGGACTGAAGAAGATCTCAGCTCCTGGTGATCTGGTTGAAAATATGCACAGTGCCTCCAGTGAGAACCTGAGATTCTCTCTTTAATGAGGAATACTTTGACTGTGGTAGGACCAGCAGTTAACTGGTAGGCAGCATTCTTGCCACAGGTAGTATCTGGTCTGGAAGCTACTTGTTCCATTTCCAAATCCTTTTAAGATCCCTTAAATTGATAAGAATGAATTCAAGTTTCAAAATGACACACTAAGTTATACACGGTGCAGGATGTCATTAAGGCAACAGTCTCACCAAGTCCATGCACAGGGCTCGGATCTCACCATTCCCCTCCCCTTGCCCTCCAAGACTGCTTAGTTCTGCTTACTACTCCTTCTCCTCAACGACAGCTTCCAGCATCCAGAAGTGAACTTGAGCAGCCTTCAGCCTCACAAGTTGGGGGTGGCCCAATTAAGGAACTTCATGGCAACTTCAAAGCCAAGGAAACAGGCCTAAGAAGGGATTGGGAGGAAGAAAAAAGCCAGCAGGAATAACTATTCATAGACTATTCAAAGCACTATGCTTTGCTGGCCCTGTCAGGACCAGAGCCCCTCCCTAACCCCACACCCACTCCACATCAAGGATGCAAGCTCTACTCTCTCATTTTTAAGAGGAGAAGAAAATTTATATTCCACAACTGCCCACTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGTTGAAGTGCAATGGTACAATCTCGGCTCACTGCAATCTCTGCCTCCCAGGTTAAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGTGTTTCCCCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGATGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCACTAGCCACCATGCCTGGCCTCACAACTGCCCACTTCTAATGGCCAGGTCAGGAAATCAAAGCCCCTCACCTCAGAGATCCCCAAAGGCAAATCCTCCTGACAGCTTCAAGGAAGGGAGCAAATAAGGAATGCTCTGGCTGAAGATAGGGCTTTGGGAAAACTGAGACCCCAGTCCTATCCCAGGAACAAGCAAAAGTCAAACCACATGCACCCTGCCCTGAGCCCCAGAGGGAAAGCACAGCCCTGCCAGCTACTCACCGCATTGGCTGGGAAGGCTCGGATCATCACTGCATTGAACCCTTTGTACAAGGATGTGACTCCTTCATCCCGGATCAGCTCCCTCAGCACATCTCTGAAACCATTAGGATATTTCCCAGGAGGTGCTGTGGGGCAGAACCCAATTTTTAAGGCTTCAGGAAGGAGAAACTAGCAGTTAAGTCTTCCTGAAGGGTCAGGACTAGCACAGGGAAAGGACACCTTGCAGGTCATGTGGGACCAGTCCATAGACAACAGTTCACCTTGGGACAAATGCACAAATGCCTGAATTACTTGTGCCAAGGGAATAGAAACGAGGGAAGAAGAATGAAACAGCCCTTCTGTTCATGTGGGGGAGGAAGAGTGGACTTGACTTCTTATCACACTTACCTTGTGTTTAGGCTGTCATGAAAATGAATCTAGGGTTCCTAGAATGCAAATGACTGTGAGGGAGAATATTGGTCAGGCAGATGCTAGGTGCTGCCATGGAGAGTGAGTATCCCTAGGGCCTTATGAGCTTTGCACCCCAGGATTAGCCAGTGCTGGGGACCCACTCTCCCCCTGTCCACCCCACTACCTTCCACTCACCAGTCTGGAATCGAGACTTGAGCACATCTGGGGGGATTGCCACAGCCCAGTTGAAGATCCCTGCAATGCCCCCAGCCACCAAGATCCGAGGGGCACTGAGCTCACTGACCCTGTATAACACCAACCACAGCCCCAGTTAGACAAAGGCTGTGAGAGTGGCATTCAGACTATCCTGCCTGTGGCAGACAGGGCAGTTACAGACAGGCAGAAACTGGTTGGAGGGAGGAGGTATAAGGCCAGTGCTGCTGGCACTCCTTGGAGAAGGTTTCATGCACCTGTTTCAAATATTTGCTCCACTGGCTGAGGCACAGAGTAAGAAGAGCTAGCTGGACCTCAGCAGCCACAAGAGGAAAGCAGACATGGAGCCAGGAACAACAACTACTTCTGCTTTCAGATTCACCCACAGGAGAGGGCAACGCACCCATGACTGGGGAAAGTGGCTTCCAAGTTATGTTTTCCTCACCTCTTTCCCTCCGGAGTGAAGATATTTTTCAGCCATTCATATGTCATGAAATACATTCCACTAGCTGGGACATCTGTTAGTGGCAAGAAAAAGGTGAATTAAAGTACATAAACTCTTCGCCAGGCATGGTGGTACACACCTGTAATCTCAGCAATTTAGGAGATTGAGGCAGGGGGATTGCTTGAGGCCAGGAGGTCCGCGCTTGGCCTGAATTATTAGTAAAATTGTTTTTTAATTGGGTGACCAGATTTGGTTCAATTTATTTGCTTTCTAAACATTAGCGTATGGTAGTAATTTATGTAGACTAAAAAAGCATTAAAAAGAAAAAAATGCCAGGCATGGTAGCTCATAACTGTAATCCGAGCACTTTGGGAGGCTGAGGCAGGCACATCACCTGAGGCCAGGAATTCGAGACCAGTCTGGCCAATATGGCGAAAGCCTCGTCTCTACTAAAAATATAAAAATGGGCCGGGCATAGTGGCTCATGCCTTTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATACAAAAATACAAAAATGGCCAAGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCGGATCACGAGGTCAAGAGATTGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAATCCAGGAGGTGGAGGTTGCAGTAAGCTGAGATCGAGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAATAATAATAATACAAAAAATACAAAAATTAGCCCGGCCTGGTGGCACATGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCACAGGAATCACTCGAACCCAGAAGGTGGAGGTTGCAGTAAGCCAAGATCACACTAATGCACTCCTGGCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAGAAAAAGAATATAGTATTATTATTATTATTACTTTACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTCTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATGCATGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCACGCCCAGCTATTATTATTTTAATAGAG
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CCTCACTGTGTAGGAGGGAAAGTTCTCCACCTGCTCCCAGAAAATTAGGCTACTCCAGTTTTACTTTTGATTATTTGCAGGCATAAAAAAAAAAAATCAAAATCCAACGATTAACAGTCTATCTCCTCCTAGGCATATATGCTCAATCCACTTGGACACAGAGGTGGGCCTCAAGTCCATATCCACATGTACAGCCCAGGATTAGATGGCACCCTGGAAATCAAATGGGTATTCCTGGCTAGGGACTGAAGAAGATCTCAGCTCCTGGTGATCTGGTTGAAAATATGCACAGTGCCTCCAGTGAGAACCTGAGATTCTCTCTTTAATGAGGAATACTTTGACTGTGGTAGGACCAGCAGTTAACTGGTAGGCAGCATTCTTGCCACAGGTAGTATCTGGTCTGGAAGCTACTTGTTCCATTTCCAAATCCTTTTAAGATCCCTTAAATTGATAAGAATGAATTCAAGTTTCAAAATGACACACTAAGTTATACACGGTGCAGGATGTCATTAAGGCAACAGTCTCACCAAGTCCATGCACAGGGCTCGGATCTCACCATTCCCCTCCCCTTGCCCTCCAAGACTGCTTAGTTCTGCTTACTACTCCTTCTCCTCAACGACAGCTTCCAGCATCCAGAAGTGAACTTGAGCAGCCTTCAGCCTCACAAGTTGGGGGTGGCCCAATTAAGGAACTTCATGGCAACTTCAAAGCCAAGGAAACAGGCCTAAGAAGGGATTGGGAGGAAGAAAAAAGCCAGCAGGAATAACTATTCATAGACTATTCAAAGCACTATGCTTTGCTGGCCCTGTCAGGACCAGAGCCCCTCCCTAACCCCACACCCACTCCACATCAAGGATGCAAGCTCTACTCTCTCATTTTTAAGAGGAGAAGAAAATTTATATTCCACAACTGCCCACTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGTTGAAGTGCAATGGTACAATCTCGGCTCACTGCAATCTCTGCCTCCCAGGTTAAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGTGTTTCCCCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGATGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCACTAGCCACCATGCCTGGCCTCACAACTGCCCACTTCTAATGGCCAGGTCAGGAAATCAAAGCCCCTCACCTCAGAGATCCCCAAAGGCAAATCCTCCTGACAGCTTCAAGGAAGGGAGCAAATAAGGAATGCTCTGGCTGAAGATAGGGCTTTGGGAAAACTGAGACCCCAGTCCTATCCCAGGAACAAGCAAAAGTCAAACCACATGCACCCTGCCCTGAGCCCCAGAGGGAAAGCACAGCCCTGCCAGCTACTCACCGCATTGGCTGGGAAGGCTCGGATCATCACTGCATTGAACCCTTTGTACAAGGATGTGACTCCTTCATCCCGGATCAGCTCCCTCAGCACATCTCTGAAACCATTAGGATATTTCCCAGGAGGTGCTGTGGGGCAGAACCCAATTTTTAAGGCTTCAGGAAGGAGAAACTAGCAGTTAAGTCTTCCTGAAGGGTCAGGACTAGCACAGGGAAAGGACACCTTGCAGGTCATGTGGGACCAGTCCATAGACAACAGTTCACCTTGGGACAAATGCACAAATGCCTGAATTACTTGTGCCAAGGGAATAGAAACGAGGGAAGAAGAATGAAACAGCCCTTCTGTTCATGTGGGGGAGGAAGAGTGGACTTGACTTCTTATCACACTTACCTTGTGTTTAGGCTGTCATGAAAATGAATCTAGGGTTCCTAGAATGCAAATGACTGTGAGGGAGAATATTGGTCAGGCAGATGCTAGGTGCTGCCATGGAGAGTGAGTATCCCTAGGGCCTTATGAGCTTTGCACCCCAGGATTAGCCAGTGCTGGGGACCCACTCTCCCCCTGTCCACCCCACTACCTTCCACTCACCAGTCCGGAATCGAGACTTGAGCACATCTGGGGGGATTGCCACAGCCCAGTTGAAGATCCCTGCAATGCCCCCAGCCACCAAGATCCGAGGGGCACTGAGCTCACTGACCCTGTATAACACCAACCACAGCCCCAGTTAGACAAAGGCTGTGAGAGTGGCATTCAGACTATCCTGCCTGTGGCAGACAGGGCAGTTACAGACAGGCAGAAACTGGTTGGAGGGAGGAGGTATAAGGCCAGTGCTGCTGGCACTCCTTGGAGAAGGTTTCATGCACCTGTTTCAAATATTTGCTCCACTGGCTGAGGCACAGAGTAAGAAGAGCTAGCTGGACCTCAGCAGCCACAAGAGGAAAGCAGACATGGAGCCAGGAACAACAACTACTTCTGCTTTCAGATTCACCCACAGGAGAGGGCAACGCACCCATGACTGGGGAAAGTGGCTTCCAAGTTATGTTTTCCTCACCTCTTTCCCTCCGGAGTGAAGATATTTTTCAGCCATTCATATGTCATGAAATACATTCCACTAGCTGGGACATCTGTTAGTGGCAAGAAAAAGGTGAATTAAAGTACATAAACTCTTCGCCAGGCATGGTGGTACACACCTGTAATCTCAGCAATTTAGGAGATTGAGGCAGGGGGATTGCTTGAGGCCAGGAGGTCCGCGCTTGGCCTGAATTATTAGTAAAATTGTTTTTTAATTGGGTGACCAGATTTGGTTCAATTTATTTGCTTTCTAAACATTAGCGTATGGTAGTAATTTATGTAGACTAAAAAAGCATTAAAAAGAAAAAAATGCCAGGCATGGTAGCTCATAACTGTAATCCGAGCACTTTGGGAGGCTGAGGCAGGCACATCACCTGAGGCCAGGAATTCGAGACCAGTCTGGCCAATATGGCGAAAGCCTCGTCTCTACTAAAAATATAAAAATGGGCCGGGCATAGTGGCTCATGCCTTTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATACAAAAATACAAAAATGGCCAAGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCGGATCACGAGGTCAAGAGATTGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAATCCAGGAGGTGGAGGTTGCAGTAAGCTGAGATCGAGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAATAATAATAATACAAAAAATACAAAAATTAGCCCGGCCTGGTGGCACATGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCACAGGAATCACTCGAACCCAGAAGGTGGAGGTTGCAGTAAGCCAAGATCACACTAATGCACTCCTGGCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAGAAAAAGAATATAGTATTATTATTATTATTACTTTACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTCTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATGCATGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCACGCCCAGCTATTATTATTTTAATAGAG
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Task1_train_6992
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Gene SLC25A20 (solute carrier family 25 member 20) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Carnitine acylcarnitine translocase deficiency
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TTCTCCACCTGCTCCCAGAAAATTAGGCTACTCCAGTTTTACTTTTGATTATTTGCAGGCATAAAAAAAAAAAATCAAAATCCAACGATTAACAGTCTATCTCCTCCTAGGCATATATGCTCAATCCACTTGGACACAGAGGTGGGCCTCAAGTCCATATCCACATGTACAGCCCAGGATTAGATGGCACCCTGGAAATCAAATGGGTATTCCTGGCTAGGGACTGAAGAAGATCTCAGCTCCTGGTGATCTGGTTGAAAATATGCACAGTGCCTCCAGTGAGAACCTGAGATTCTCTCTTTAATGAGGAATACTTTGACTGTGGTAGGACCAGCAGTTAACTGGTAGGCAGCATTCTTGCCACAGGTAGTATCTGGTCTGGAAGCTACTTGTTCCATTTCCAAATCCTTTTAAGATCCCTTAAATTGATAAGAATGAATTCAAGTTTCAAAATGACACACTAAGTTATACACGGTGCAGGATGTCATTAAGGCAACAGTCTCACCAAGTCCATGCACAGGGCTCGGATCTCACCATTCCCCTCCCCTTGCCCTCCAAGACTGCTTAGTTCTGCTTACTACTCCTTCTCCTCAACGACAGCTTCCAGCATCCAGAAGTGAACTTGAGCAGCCTTCAGCCTCACAAGTTGGGGGTGGCCCAATTAAGGAACTTCATGGCAACTTCAAAGCCAAGGAAACAGGCCTAAGAAGGGATTGGGAGGAAGAAAAAAGCCAGCAGGAATAACTATTCATAGACTATTCAAAGCACTATGCTTTGCTGGCCCTGTCAGGACCAGAGCCCCTCCCTAACCCCACACCCACTCCACATCAAGGATGCAAGCTCTACTCTCTCATTTTTAAGAGGAGAAGAAAATTTATATTCCACAACTGCCCACTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGTTGAAGTGCAATGGTACAATCTCGGCTCACTGCAATCTCTGCCTCCCAGGTTAAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGTGTTTCCCCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGATGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCACTAGCCACCATGCCTGGCCTCACAACTGCCCACTTCTAATGGCCAGGTCAGGAAATCAAAGCCCCTCACCTCAGAGATCCCCAAAGGCAAATCCTCCTGACAGCTTCAAGGAAGGGAGCAAATAAGGAATGCTCTGGCTGAAGATAGGGCTTTGGGAAAACTGAGACCCCAGTCCTATCCCAGGAACAAGCAAAAGTCAAACCACATGCACCCTGCCCTGAGCCCCAGAGGGAAAGCACAGCCCTGCCAGCTACTCACCGCATTGGCTGGGAAGGCTCGGATCATCACTGCATTGAACCCTTTGTACAAGGATGTGACTCCTTCATCCCGGATCAGCTCCCTCAGCACATCTCTGAAACCATTAGGATATTTCCCAGGAGGTGCTGTGGGGCAGAACCCAATTTTTAAGGCTTCAGGAAGGAGAAACTAGCAGTTAAGTCTTCCTGAAGGGTCAGGACTAGCACAGGGAAAGGACACCTTGCAGGTCATGTGGGACCAGTCCATAGACAACAGTTCACCTTGGGACAAATGCACAAATGCCTGAATTACTTGTGCCAAGGGAATAGAAACGAGGGAAGAAGAATGAAACAGCCCTTCTGTTCATGTGGGGGAGGAAGAGTGGACTTGACTTCTTATCACACTTACCTTGTGTTTAGGCTGTCATGAAAATGAATCTAGGGTTCCTAGAATGCAAATGACTGTGAGGGAGAATATTGGTCAGGCAGATGCTAGGTGCTGCCATGGAGAGTGAGTATCCCTAGGGCCTTATGAGCTTTGCACCCCAGGATTAGCCAGTGCTGGGGACCCACTCTCCCCCTGTCCACCCCACTACCTTCCACTCACCAGTCTGGAATCGAGACTTGAGCACATCTGGGGGGATTGCCACAGCCCAGTTGAAGATCCCTGCAATGCCCCCAGCCACCAAGATCCGAGGGGCACTGAGCTCACTGACCCTGTATAACACCAACCACAGCCCCAGTTAGACAAAGGCTGTGAGAGTGGCATTCAGACTATCCTGCCTGTGGCAGACAGGGCAGTTACAGACAGGCAGAAACTGGTTGGAGGGAGGAGGTATAAGGCCAGTGCTGCTGGCACTCCTTGGAGAAGGTTTCATGCACCTGTTTCAAATATTTGCTCCACTGGCTGAGGCACAGAGTAAGAAGAGCTAGCTGGACCTCAGCAGCCACAAGAGGAAAGCAGACATGGAGCCAGGAACAACAACTACTTCTGCTTTCAGATTCACCCACAGGAGAGGGCAACGCACCCATGACTGGGGAAAGTGGCTTCCAAGTTATGTTTTCCTCACCTCTTTCCCTCCGGAGTGAAGATATTTTTCAGCCATTCATATGTCATGAAATACATTCCACTAGCTGGGACATCTGTTAGTGGCAAGAAAAAGGTGAATTAAAGTACATAAACTCTTCGCCAGGCATGGTGGTACACACCTGTAATCTCAGCAATTTAGGAGATTGAGGCAGGGGGATTGCTTGAGGCCAGGAGGTCCGCGCTTGGCCTGAATTATTAGTAAAATTGTTTTTTAATTGGGTGACCAGATTTGGTTCAATTTATTTGCTTTCTAAACATTAGCGTATGGTAGTAATTTATGTAGACTAAAAAAGCATTAAAAAGAAAAAAATGCCAGGCATGGTAGCTCATAACTGTAATCCGAGCACTTTGGGAGGCTGAGGCAGGCACATCACCTGAGGCCAGGAATTCGAGACCAGTCTGGCCAATATGGCGAAAGCCTCGTCTCTACTAAAAATATAAAAATGGGCCGGGCATAGTGGCTCATGCCTTTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATACAAAAATACAAAAATGGCCAAGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCGGATCACGAGGTCAAGAGATTGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAATCCAGGAGGTGGAGGTTGCAGTAAGCTGAGATCGAGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAATAATAATAATACAAAAAATACAAAAATTAGCCCGGCCTGGTGGCACATGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCACAGGAATCACTCGAACCCAGAAGGTGGAGGTTGCAGTAAGCCAAGATCACACTAATGCACTCCTGGCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAGAAAAAGAATATAGTATTATTATTATTATTACTTTACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTCTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATGCATGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCACGCCCAGCTATTATTATTTTAATAGAGACAGGGTATCACTATTTTACCC
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TTCTCCACCTGCTCCCAGAAAATTAGGCTACTCCAGTTTTACTTTTGATTATTTGCAGGCATAAAAAAAAAAAATCAAAATCCAACGATTAACAGTCTATCTCCTCCTAGGCATATATGCTCAATCCACTTGGACACAGAGGTGGGCCTCAAGTCCATATCCACATGTACAGCCCAGGATTAGATGGCACCCTGGAAATCAAATGGGTATTCCTGGCTAGGGACTGAAGAAGATCTCAGCTCCTGGTGATCTGGTTGAAAATATGCACAGTGCCTCCAGTGAGAACCTGAGATTCTCTCTTTAATGAGGAATACTTTGACTGTGGTAGGACCAGCAGTTAACTGGTAGGCAGCATTCTTGCCACAGGTAGTATCTGGTCTGGAAGCTACTTGTTCCATTTCCAAATCCTTTTAAGATCCCTTAAATTGATAAGAATGAATTCAAGTTTCAAAATGACACACTAAGTTATACACGGTGCAGGATGTCATTAAGGCAACAGTCTCACCAAGTCCATGCACAGGGCTCGGATCTCACCATTCCCCTCCCCTTGCCCTCCAAGACTGCTTAGTTCTGCTTACTACTCCTTCTCCTCAACGACAGCTTCCAGCATCCAGAAGTGAACTTGAGCAGCCTTCAGCCTCACAAGTTGGGGGTGGCCCAATTAAGGAACTTCATGGCAACTTCAAAGCCAAGGAAACAGGCCTAAGAAGGGATTGGGAGGAAGAAAAAAGCCAGCAGGAATAACTATTCATAGACTATTCAAAGCACTATGCTTTGCTGGCCCTGTCAGGACCAGAGCCCCTCCCTAACCCCACACCCACTCCACATCAAGGATGCAAGCTCTACTCTCTCATTTTTAAGAGGAGAAGAAAATTTATATTCCACAACTGCCCACTTCTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGTTGAAGTGCAATGGTACAATCTCGGCTCACTGCAATCTCTGCCTCCCAGGTTAAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGTGTTTCCCCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGATGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCACTAGCCACCATGCCTGGCCTCACAACTGCCCACTTCTAATGGCCAGGTCAGGAAATCAAAGCCCCTCACCTCAGAGATCCCCAAAGGCAAATCCTCCTGACAGCTTCAAGGAAGGGAGCAAATAAGGAATGCTCTGGCTGAAGATAGGGCTTTGGGAAAACTGAGACCCCAGTCCTATCCCAGGAACAAGCAAAAGTCAAACCACATGCACCCTGCCCTGAGCCCCAGAGGGAAAGCACAGCCCTGCCAGCTACTCACCGCATTGGCTGGGAAGGCTCGGATCATCACTGCATTGAACCCTTTGTACAAGGATGTGACTCCTTCATCCCGGATCAGCTCCCTCAGCACATCTCTGAAACCATTAGGATATTTCCCAGGAGGTGCTGTGGGGCAGAACCCAATTTTTAAGGCTTCAGGAAGGAGAAACTAGCAGTTAAGTCTTCCTGAAGGGTCAGGACTAGCACAGGGAAAGGACACCTTGCAGGTCATGTGGGACCAGTCCATAGACAACAGTTCACCTTGGGACAAATGCACAAATGCCTGAATTACTTGTGCCAAGGGAATAGAAACGAGGGAAGAAGAATGAAACAGCCCTTCTGTTCATGTGGGGGAGGAAGAGTGGACTTGACTTCTTATCACACTTACCTTGTGTTTAGGCTGTCATGAAAATGAATCTAGGGTTCCTAGAATGCAAATGACTGTGAGGGAGAATATTGGTCAGGCAGATGCTAGGTGCTGCCATGGAGAGTGAGTATCCCTAGGGCCTTATGAGCTTTGCACCCCAGGATTAGCCAGTGCTGGGGACCCACTCTCCCCCTGTCCACCCCACTACCTTCCACTCACCAGTCTGGAATCGAGACTTGAGCACATGTGGGGGGATTGCCACAGCCCAGTTGAAGATCCCTGCAATGCCCCCAGCCACCAAGATCCGAGGGGCACTGAGCTCACTGACCCTGTATAACACCAACCACAGCCCCAGTTAGACAAAGGCTGTGAGAGTGGCATTCAGACTATCCTGCCTGTGGCAGACAGGGCAGTTACAGACAGGCAGAAACTGGTTGGAGGGAGGAGGTATAAGGCCAGTGCTGCTGGCACTCCTTGGAGAAGGTTTCATGCACCTGTTTCAAATATTTGCTCCACTGGCTGAGGCACAGAGTAAGAAGAGCTAGCTGGACCTCAGCAGCCACAAGAGGAAAGCAGACATGGAGCCAGGAACAACAACTACTTCTGCTTTCAGATTCACCCACAGGAGAGGGCAACGCACCCATGACTGGGGAAAGTGGCTTCCAAGTTATGTTTTCCTCACCTCTTTCCCTCCGGAGTGAAGATATTTTTCAGCCATTCATATGTCATGAAATACATTCCACTAGCTGGGACATCTGTTAGTGGCAAGAAAAAGGTGAATTAAAGTACATAAACTCTTCGCCAGGCATGGTGGTACACACCTGTAATCTCAGCAATTTAGGAGATTGAGGCAGGGGGATTGCTTGAGGCCAGGAGGTCCGCGCTTGGCCTGAATTATTAGTAAAATTGTTTTTTAATTGGGTGACCAGATTTGGTTCAATTTATTTGCTTTCTAAACATTAGCGTATGGTAGTAATTTATGTAGACTAAAAAAGCATTAAAAAGAAAAAAATGCCAGGCATGGTAGCTCATAACTGTAATCCGAGCACTTTGGGAGGCTGAGGCAGGCACATCACCTGAGGCCAGGAATTCGAGACCAGTCTGGCCAATATGGCGAAAGCCTCGTCTCTACTAAAAATATAAAAATGGGCCGGGCATAGTGGCTCATGCCTTTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGCTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAATACAAAAATACAAAAATGGCCAAGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCGGATCACGAGGTCAAGAGATTGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCGCTTGAATCCAGGAGGTGGAGGTTGCAGTAAGCTGAGATCGAGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAATAATAATAATACAAAAAATACAAAAATTAGCCCGGCCTGGTGGCACATGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCACAGGAATCACTCGAACCCAGAAGGTGGAGGTTGCAGTAAGCCAAGATCACACTAATGCACTCCTGGCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAGAAAAAGAATATAGTATTATTATTATTATTACTTTACTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTCTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATGCATGCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCACGCCCAGCTATTATTATTTTAATAGAGACAGGGTATCACTATTTTACCC
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Task1_train_6993
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The gene P4HTM (prolyl 4-hydroxylase, transmembrane), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
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CCCAGCAGACAGCTTCCCTGGTCTAAGTGAGATCTCCCTTGCCTTCCTCTTGTCCACCTGGAGTCATGCCGAAGCGCCTAAAATGGTAGTGCTGCTACCTGTGCTAACTGCTGGGGAGGGGTGGGCAGGGAAGCTGTCATGCAAGTGGTGCCCCCTCTGGTAATAACTCTCAGGAGGTTTCTGAGGTGTGGTCATCACCCTCATGCCCAAATTCTGGACCAAGAGAGGAAGATACAGCAGTTAGAAAGGACTTGGAACAGTGGCTTTGCGGCTGGTGAACCAGAGTGAAGAATCTGGCCGTGACCTGTGGCTGGATGGCTGCCACACTGCTATAGGCCCCAGAACAGAGGTGGTGACAGTCTCACAGCCCTTGAATGTCCCCCACCCTCAGAGGAATCTGGGCCAAAGAGTGGAAGGTGATGTCCTTGGGTCAGCCAGAATAACATGGAGCAAAGATACCAACTACTCTTCCAGAACCCCAAGAGGGTAGAACCCCTGCTTAATGGTTTGAGCAGGGACAGTGGAGAATGTTCTCATGAGAGGGGGTGGCCTGACTTTCGTTGCTAAGGTGGGCTGGTAACGCAGTAGGCAGGGCTGGCGAAGTAGGTTCCACCCAGGATGAAACCTGGGGTCATGAGGAACTCCCCGGGGGCTGGCCCTGCTTGCACCCTGGCGTATGTATGTAAGGCCCTGGATGAGGCCCAGCACTGCCTGCTCTCTCCTCACCCTCCACAGGCCGGAGAGTGGCCACCACTCTATATAGCCAGGCTGGAAGGCCAGGGTCCTGGCCATATGGCTCAAGCTTCCTTTGGAGAACCTTCTCTGGCCACTCTAATAGGGGGTGGGCCTCTTTCTTCTTAGGGCCAAATTAGGGCTTAAACTGAGAAAAGGAACTGCTCTGGGTCTTCCTGTAAGGCCTGATGTGACAGAAACCAGGTTCATCTGACCCAAAAGTCCAGGTGGGGGACAAGTGTACAAGGCCCCTCAGTGCCTGAGGTCAGGGGCTGCTGCTGCCTTTGGGGTAGGTAGGGAAGTGCAGCCTGCCACTGTTGCCTCCCAATATGGGCTTGGTGGGCATTGATGGTGGGTGCCCTGTGCAGGAGTGCTGAGTCTGCAGGAGTTCTCCAACATGGACCTTCGGGACTTCCACAAGTACATGAGGAGCCACAAGGCAGAGTCCAGTGAGCTGGTGCGGAACAGCCACCATACCTGGCTCTACCAGGGTGAGGGTGCCCACCACATCATGCGTGCCATCCGCCAGAGGTGAGCACCTGAAGCTGTTCTCACTGGAGCAGGGGGAGAAGACTGGGCAGGGCCTCCACAGAAGTCCTTGTCTGGGGCCAAGAGGACAGAATGGATTAACCCATTTGGGATTAAGTTCCATTTGTTAGACCAGGATTGGGACCCACTGAAAGACAGGCAATTAACAAAGGCAAATTAGCCCTCCTTGCAGGCACACAATGGGCAACTGGGGTTAGATAGAGATTGAGCACTTCTTTCTGATTAGATAAATGACCTCTTATCTTTGACCCCTTATCTGACCCCGTCACAGCAGGAAAAGGGTTTTTAAATAAACAACTTTCTTCCAGGGAGGAGGACCTCAGGACTCCCCGCCCCCTTTATTTAGTGGAAATGTCAACATTTCCACATAGCAGGTGTCTCTGTCTTTGGCATCTGAGGGAGAAGGATCATCATGAGTAACCCCCTCCTGCTCTTACAGGGCCAGTCTGAGATGGCTTAAGGGACTTCCAGGGGAGGTGGGTAGGGGCAAAGCTTGTGGCAGGCCTAGGGTCCACCTTGGCCAGCTCCTTCAGATCACCACCTTGCCTGGGGCTGCCCAGCCAAATGCCTGCTGCCCACCAGGGTGCTGCGCCTCACTCGCCTGTCGCCTGAGATCGTGGAGCTCAGCGAGCCGCTGCAGGTTGTTCGATATGGTGAGGGGGGCCACTACCATGCCCACGTGGACAGTGGGCCTGTGTACCCAGAGACCATCTGCTCCCATACCAAGCTGGTAGCCAACGAGTCTGTACCCTTCGAGACCTCCTGCCGGCAAGTATCTCCCAACTGGGGGCTGCCTTCAATCCTCAGACCAGGAACACCCATGACACAGGCACAGCCCTGCACTGTGGGCGTGCCCCTTGGCATGGGGCCAGGAGATCACTGGGTTATCCCGGTTAGTGATGCCCTCACCTCTCCCCACAAGTTGTTTACCCAATGGCTGGAAAGGGGTGGCTACTGGTCATCGTGACCACTGGAGTCAACACAGACTGATGTACCCACAGACACCAAAACTTGCCCCCTGAGTTCTGAAGCAAGGGGCAAGGCTGGGCCCCTAGCTTGTCCTGCCCATTCCTCCAGGTGTTGATCTTGATTCCACTTAGAGAAGCTGAAGCTGTGCCTCCCTCCCCTGTCAAGCCAGTTCTTTCCTCTTCAGGTGGCTGTTCTGGCCCAGCCCCTTCCCATCCCCAAGGAGCCCTTCAGCGCGCCCTGTTGCTTCTGCTAGCCTACCTTTCCCTGCCAGGCCCTTGCTCAGGGCCATGGCATTTAACTAAGTGCACCTGTGATCTTGGCCAAAAAACCATTGCAACTCACAGTAAGAGACTGGGTTTCGGGGAAGGAGGGGCTAGGGACATTTTGGCACTGGCCTGCCCTATTGTCTCCCATCCTAGTCTGTCCTGGTCCCTGGCAACAGGAACCTGGGCAGCTTATCCTGCCCACAGGTAAGCCCCTGGGAGCATCCACAACTGGGGACCTGCTCAGTGCCCCCCCTGCCTTACAGCTACATGACAGTGCTGTTTTATTTGAACAACGTCACTGGTGGGGGCGAGACTGTTTTCCCTGTAGCAGATAACAGAACCTACGATGAAATGGTAAGGGTCAACTGGGCTATTACTCTTGTGGGCTGGCAGGGGCTTAGACAAGTGAAGTACACACCTCTCCAGGTCTAAGGATGTGGGCCCAAATTATTCCTTGGGCATATCTGGTTGGTTTCCCTTTGGTCACCCTTGGCTGGCCTGGCCATAGAGTGGGGACAGGTTGAACACCCCACCACCCTGCTGCCCACAGAGTCTGATTCAGGATGACGTGGACCTCCGTGACACACGGAGGCACTGTGACAAGGGAAACCTGCGTGTCAAGCCCCAACAGGGCACAGCAGTCTTCTGGTACAACTACCTGCCTGATGGGCAAGGTGAGGGCCTATGGCCAGGCCTGGGGGGGGTGCCCTGAGTACAGCTTCCCTTTACCCAGCCCCCGTCTGCCACAATGGAGGGCTGTTTCTGGCTGCTTTCCAAATAGTTTTCTGCTCCTGGTGCCTCCCAAAGGCCATCCTTAGTGACTTTAGCAGACTGCCCCAGGACCTGTACTGCTTATTGGGTTATATCCATCCCTATCATTCCCTGATGCCCCAGCCTTCCTACTCCCTGGGGCTTGGGACACATGTCCCTTGCTAACCCAGGATGGGAAGGGATATGGACAGGCCCAACAGCAAGAAAGCTGGTTTCAGAGGGCCAGTAGTGTTGACTATACATTAGTGGGCTGAGATGAGGAGCCTCCAAGGAAGCTTTAGGTCTGGGTGTTTGCTACACAAGGAATGCATAGCTGGACCCACCTTGGTCATGCTCTTGGTGCCTATGAGGCCAAGCTCTGGCCAGCCCAGCCTAGGATCTCACGTCACCCTCCTCTTCTAGGTTGGGTGGGTGACGTAGACGACTACTCGCTGCACGGGGGCTGCCTGGTCACGCGCGGCACCAAGTGGATTGCCAACAACTGGATTAATGTGGACCCCAGCCGAGCGCGGCAAGCGCTGTTCCAACAGGAGATGGCCCGCCTTGCCCGAGAAGGGGGCACCGACTCACAGCCCGAGTGGGCTCTGGACCGGGCCTACCGCGATGCGCGCGTGGAACTCTGAGGGAAGAGTTAGCCCCGGTTCCCAGCCGCGGGTCGCCAGTTGCCCAAGATCAGGGGTCCGGCTGTCCTTCTGTCCTGCTGCAGACTAAAGGTCTGGCCAATGTCTTGCCCCACCCCGCCAGCCGCGATACGGCGCAGTTCCTATATTCATGTTATTTATTGTGTACTGACTCCATCTGCCCCGTCA
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CCCAGCAGACAGCTTCCCTGGTCTAAGTGAGATCTCCCTTGCCTTCCTCTTGTCCACCTGGAGTCATGCCGAAGCGCCTAAAATGGTAGTGCTGCTACCTGTGCTAACTGCTGGGGAGGGGTGGGCAGGGAAGCTGTCATGCAAGTGGTGCCCCCTCTGGTAATAACTCTCAGGAGGTTTCTGAGGTGTGGTCATCACCCTCATGCCCAAATTCTGGACCAAGAGAGGAAGATACAGCAGTTAGAAAGGACTTGGAACAGTGGCTTTGCGGCTGGTGAACCAGAGTGAAGAATCTGGCCGTGACCTGTGGCTGGATGGCTGCCACACTGCTATAGGCCCCAGAACAGAGGTGGTGACAGTCTCACAGCCCTTGAATGTCCCCCACCCTCAGAGGAATCTGGGCCAAAGAGTGGAAGGTGATGTCCTTGGGTCAGCCAGAATAACATGGAGCAAAGATACCAACTACTCTTCCAGAACCCCAAGAGGGTAGAACCCCTGCTTAATGGTTTGAGCAGGGACAGTGGAGAATGTTCTCATGAGAGGGGGTGGCCTGACTTTCGTTGCTAAGGTGGGCTGGTAACGCAGTAGGCAGGGCTGGCGAAGTAGGTTCCACCCAGGATGAAACCTGGGGTCATGAGGAACTCCCCGGGGGCTGGCCCTGCTTGCACCCTGGCGTATGTATGTAAGGCCCTGGATGAGGCCCAGCACTGCCTGCTCTCTCCTCACCCTCCACAGGCCGGAGAGTGGCCACCACTCTATATAGCCAGGCTGGAAGGCCAGGGTCCTGGCCATATGGCTCAAGCTTCCTTTGGAGAACCTTCTCTGGCCACTCTAATAGGGGGTGGGCCTCTTTCTTCTTAGGGCCAAATTAGGGCTTAAACTGAGAAAAGGAACTGCTCTGGGTCTTCCTGTAAGGCCTGATGTGACAGAAACCAGGTTCATCTGACCCAAAAGTCCAGGTGGGGGACAAGTGTACAAGGCCCCTCAGTGCCTGAGGTCAGGGGCTGCTGCTGCCTTTGGGGTAGGTAGGGAAGTGCAGCCTGCCACTGTTGCCTCCCAATATGGGCTTGGTGGGCATTGATGGTGGGTGCCCTGTGCAGGAGTGCTGAGTCTGCAGGAGTTCTCCAACATGGACCTTCGGGACTTCCACAAGTACATGAGGAGCCACAAGGCAGAGTCCAGTGAGCTGGTGCGGAACAGCCACCATACCTGGCTCTACCAGGGTGAGGGTGCCCACCACATCATGCGTGCCATCCGCCAGAGGTGAGCACCTGAAGCTGTTCTCACTGGAGCAGGGGGAGAAGACTGGGCAGGGCCTCCACAGAAGTCCTTGTCTGGGGCCAAGAGGACAGAATGGATTAACCCATTTGGGATTAAGTTCCATTTGTTAGACCAGGATTGGGACCCACTGAAAGACAGGCAATTAACAAAGGCAAATTAGCCCTCCTTGCAGGCACACAATGGGCAACTGGGGTTAGATAGAGATTGAGCACTTCTTTCTGATTAGATAAATGACCTCTTATCTTTGACCCCTTATCTGACCCCGTCACAGCAGGAAAAGGGTTTTTAAATAAACAACTTTCTTCCAGGGAGGAGGACCTCAGGACTCCCCGCCCCCTTTATTTAGTGGAAATGTCAACATTTCCACATAGCAGGTGTCTCTGTCTTTGGCATCTGAGGGAGAAGGATCATCATGAGTAACCCCCTCCTGCTCTTACAGGGCCAGTCTGAGATGGCTTAAGGGACTTCCAGGGGAGGTGGGTAGGGGCAAAGCTTGTGGCAGGCCTAGGGTCCACCTTGGCCAGCTCCTTCAGATCACCACCTTGCCTGGGGCTGCCCAGCCAAATGCCTGCTGCCCACCAGGGTGCTGCGCCTCACTCGCCTGTCGCCTGAGATCGTGGAGCTCAGCGAGCCGCTGCAGGTTGTTCGATATGGTGAGGGGGGCCACTACCATGCCCACGTGGACAGTGGGCCTGTGTACCCAGAGACCATCTGCTCCCATACCAAGCTGGTAGCCAACGAGTCTGTACCCTTCGAGACCTCCTGCCAGCAAGTATCTCCCAACTGGGGGCTGCCTTCAATCCTCAGACCAGGAACACCCATGACACAGGCACAGCCCTGCACTGTGGGCGTGCCCCTTGGCATGGGGCCAGGAGATCACTGGGTTATCCCGGTTAGTGATGCCCTCACCTCTCCCCACAAGTTGTTTACCCAATGGCTGGAAAGGGGTGGCTACTGGTCATCGTGACCACTGGAGTCAACACAGACTGATGTACCCACAGACACCAAAACTTGCCCCCTGAGTTCTGAAGCAAGGGGCAAGGCTGGGCCCCTAGCTTGTCCTGCCCATTCCTCCAGGTGTTGATCTTGATTCCACTTAGAGAAGCTGAAGCTGTGCCTCCCTCCCCTGTCAAGCCAGTTCTTTCCTCTTCAGGTGGCTGTTCTGGCCCAGCCCCTTCCCATCCCCAAGGAGCCCTTCAGCGCGCCCTGTTGCTTCTGCTAGCCTACCTTTCCCTGCCAGGCCCTTGCTCAGGGCCATGGCATTTAACTAAGTGCACCTGTGATCTTGGCCAAAAAACCATTGCAACTCACAGTAAGAGACTGGGTTTCGGGGAAGGAGGGGCTAGGGACATTTTGGCACTGGCCTGCCCTATTGTCTCCCATCCTAGTCTGTCCTGGTCCCTGGCAACAGGAACCTGGGCAGCTTATCCTGCCCACAGGTAAGCCCCTGGGAGCATCCACAACTGGGGACCTGCTCAGTGCCCCCCCTGCCTTACAGCTACATGACAGTGCTGTTTTATTTGAACAACGTCACTGGTGGGGGCGAGACTGTTTTCCCTGTAGCAGATAACAGAACCTACGATGAAATGGTAAGGGTCAACTGGGCTATTACTCTTGTGGGCTGGCAGGGGCTTAGACAAGTGAAGTACACACCTCTCCAGGTCTAAGGATGTGGGCCCAAATTATTCCTTGGGCATATCTGGTTGGTTTCCCTTTGGTCACCCTTGGCTGGCCTGGCCATAGAGTGGGGACAGGTTGAACACCCCACCACCCTGCTGCCCACAGAGTCTGATTCAGGATGACGTGGACCTCCGTGACACACGGAGGCACTGTGACAAGGGAAACCTGCGTGTCAAGCCCCAACAGGGCACAGCAGTCTTCTGGTACAACTACCTGCCTGATGGGCAAGGTGAGGGCCTATGGCCAGGCCTGGGGGGGGTGCCCTGAGTACAGCTTCCCTTTACCCAGCCCCCGTCTGCCACAATGGAGGGCTGTTTCTGGCTGCTTTCCAAATAGTTTTCTGCTCCTGGTGCCTCCCAAAGGCCATCCTTAGTGACTTTAGCAGACTGCCCCAGGACCTGTACTGCTTATTGGGTTATATCCATCCCTATCATTCCCTGATGCCCCAGCCTTCCTACTCCCTGGGGCTTGGGACACATGTCCCTTGCTAACCCAGGATGGGAAGGGATATGGACAGGCCCAACAGCAAGAAAGCTGGTTTCAGAGGGCCAGTAGTGTTGACTATACATTAGTGGGCTGAGATGAGGAGCCTCCAAGGAAGCTTTAGGTCTGGGTGTTTGCTACACAAGGAATGCATAGCTGGACCCACCTTGGTCATGCTCTTGGTGCCTATGAGGCCAAGCTCTGGCCAGCCCAGCCTAGGATCTCACGTCACCCTCCTCTTCTAGGTTGGGTGGGTGACGTAGACGACTACTCGCTGCACGGGGGCTGCCTGGTCACGCGCGGCACCAAGTGGATTGCCAACAACTGGATTAATGTGGACCCCAGCCGAGCGCGGCAAGCGCTGTTCCAACAGGAGATGGCCCGCCTTGCCCGAGAAGGGGGCACCGACTCACAGCCCGAGTGGGCTCTGGACCGGGCCTACCGCGATGCGCGCGTGGAACTCTGAGGGAAGAGTTAGCCCCGGTTCCCAGCCGCGGGTCGCCAGTTGCCCAAGATCAGGGGTCCGGCTGTCCTTCTGTCCTGCTGCAGACTAAAGGTCTGGCCAATGTCTTGCCCCACCCCGCCAGCCGCGATACGGCGCAGTTCCTATATTCATGTTATTTATTGTGTACTGACTCCATCTGCCCCGTCA
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Task1_train_6994
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The variant affects gene LOC129936729, NDUFAF3 (ATAC-STARR-seq lymphoblastoid silent region 14349| NADH:ubiquinone oxidoreductase complex assembly factor 3), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; not provided
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TTGGCAAGGCCCCTTTCTGGGCCAGGGCTGAGGCCCTGCTGGGAGGCGCCGAAAGAGCACTGGGCGGACACGACATTCCCGATGGCTTCTCGGGTGCCCACTCAACGGGAGTGATCGTGTCATTCCAAAGCGCTTTCCATTCTGAAGGTGCATGACCTGGAGACAACTGCTTAGCAGGGTTGGGAACCCTCAGTCAAACTGAGGACTTCAGATACTCTCATCCACGAAGACGGTTGGGGTGGTTTTTCCCCAGGAAGTAAGAGGGCTATCTTTAGCGAGATGCGGGCTGAGGCAGCCCTGGGGGAGTCACTACCATTGCAGCCCTACCCAGAGGTCCTGGGTCCACCCTCCCTCGCCAATCCTCCCCAGGGTTCCAGAGATGGCCACCAGCCTCGGCTCTCCCACGTCTACACCCATCACCTCCAGCCTGAGGGCGCAACTGAGAGGAACTGAGACCCAAGCAGCTCAGTAAAGTATGTCTGGGGGTCAGGGGCACCCCATCTGGGCCAGGGCGCTGCTCAGGCAGGAGAGCAGGGGACGAAATCCAAGCGCAGCTGGAATGCTCTGGAGACAACAGCTGCTTTTGGGATTCCGTTGCCCGCTGTCCAGCCGTTGGCGGGGGGCGGGGGAGCTCCTGCCCCCAGGTCACTCGCCCTGGGGCCACATCAGAACCCGCCCATCCCCAGTCCCAGGAGGAAGACCCGGGAGTAGGTTGTGAAACGGAGTCTAGAGGGAACAAGACGCTCACCTGGGCCACAGAACAATAGAAGGGGAGGTGGGGGCCTCCCCTGGGACCGGGTCCCGATCCGGATTAGATCCGTGGGGCAGGATTAGCCCTGTTGGTCCCACGAAGCCTGGGCCACTGGTGCGGTGACGGTGGTGGGGCGGGCTTCGGAATCCGTCAGGAGGGAAGCGCGCCCGTGGGGCCGGAGAGGAAGTAAACCCGCGCGTCCACCTCGGGGACACCCCCGCGCTCGGTGGCCTTTGTCCGGTGACGCTGCCAGCGCCCGGAGCACCAGGGGCCGAAGGGGTCCACAGAGCAGCCGCGGGACCCCCGGAAACCCATTGCGACCGGCCCCAGGAGACCCACCACCAGGCTCCCACTGTGCCGAGCTTCCCGCTCGCCCGGCCCCGCGGGTAGCGAAAGCGACAATGTTCCCCTGAGGCCACGACAGAGCCGGCGTGCCGAGATGCCCAAACCCCGCGCGGGGGCCAGCGACTCTCGCGCCAGTAGGCCCTTGACTTGGATCAAGACGGGGGACGGGGGACTCCCAGGACGCGAGCAGAGTGAACGAGGACAAGGTGATGCTCCACGCGCTTCTACTTCAAGTCTGGTCCGGTTCGGCCTGGTCTGGGCCAGCCGAACAGCCACCCAAACACTATCACAGCTTGCCCTTCCGCTTGCTCTGGCTGCCTGCAGACTTGGAGCCATTTTAAGGAGAAACCACCTGGCCACGCCCCCTAGAGAACCCGAGAAGCCAATCCACGCTCGGCCACGCCCCTCTCCGCGCGCTGCGGAGAGGCCAACGGTCGCGCGGGTGACGGTTAGGGCGGGGCGTGCTTCCGCGTCTAGCCGGAGAAACTTGAGCCGGCTGCCCCGCCCACGGTGCCCGAAGCCCCAAAGGCTGGAATTAGGGGCTAGAAGTCTGGCACCCACCGCCTGGCCAGGTGTTCGGGACGCGACCAGGTGGGCGGTCGCCCCGCCCCGGGAGCGCGGCTTAATAGCTGAGAGCCCGGGGGCCAGGCCGCGGCTGCGGCCCAGGCAACGCCCTGAGGGTGGCCACGCTGCCAGGTGTTCCACTCCCCCGGGACTATGGGCAAGGGCCCGGGGCGGGGAGGGCGGCAGGTGCTGACACTGGAGCTGCGCCGGAGGTCGGGGAACTCGGCCTCCTAAGACTGAGGACACTCGCCTGCTGGGCCGGTCGAGCTGTGCGGTGCCCTCCGGGACGCAGGGGGCGCTGCAGCCACGCTGGGTCAGGCTCCGCAGGGCCCTCCCAACCCGGGGACTAACGGCGCCGGTGACGACTTCGCCGCGCGTTGGTCAGCCATGGCCACCGCTCTCGCGCTACGTAGCTTGTACCGAGCGCGACCCTCGCTGCGCTGTCCGCCCGTTGAGCTTCCCTGGTGAGCTTGGACCCCGCGCCCTCGACCATCCAGCCCCCTAGGGCCGGCGACTGCCAGCCCAGCACCTTCCGGCCTCTCGGGCTGCCCGGCCCGGCCCCGCGCCCCTGACCCTTTCCCTCCGCAGGGCCCCGCGGCGAGGGCATCGGCTCTCGCCGGCGGATGACGAGCTGTATCAGCGGACGCGCATCTCTCTGCTGCAACGCGAGGCCGCTCAGGCAATGTACATCGACAGCTACAACAGCCGCGGCTTCATGATAAACGGAAACCGCGTGCTCGGCCCCTGCGCTCTGCTCCCGCACTCGGTGGTGCAGTGGAACGTGAGTCCTGGCCCGCAGTGTGGAAACTGAGGCCCAGAGTCACAGGCCCTCACCCTGCTTGGTCCCTGCAAACTTGGCTTTCCTCTGTCTCCTCCTGCAGTGGATGGAGATGGGGAGAGGCTGCGTGGATTTGTCGTATTAAATGTGCCTCCTCCCTGCACAGGTGGGATCCCACCAGGACATCACCGAAGACAGCTTTTCCCTCTTCTGGTTGCTGGAGCCCCGGATAGGTACTGGGGAAGGGGAGGGAGAACAGAGGTGTTCTGGGCCCCAGAAGGCGACCCCCACTGCAGCCTCTCAACAGAACTGTAGACTAGCCACACCCACCCTTCCCTAGAGATCGTGGTGGTGGGGACTGGAGACCGGACCGAGAGGCTGCAGTCCCAGGTGCTTCAAGCCATGAGGCAGCGGGGCATTGCTGTGGAAGTGCAGGACACGGTGAGTCCCGGGACTGGGGCATGCTGCGGGGAGCACAGGCCTGGCGCTAGACAGGCTGATGCTGGCCTTTTCTTTGCAGCCCAATGCCTGTGCCACCTTCAACTTCCTGTGTCATGAAGGCCGAGTAACTGGAGCTGCTCTCATCCCTCCACCAGGAGGGACTTCACTTACATCTTTGGGCCAAGCTGCTCAATGAACCGCCAGGAACTGACCTGCTGACTGCACTCTGCCAGGCTTCCCAATGCTTTCACTCTTATCTACCCTTTGGCACTTATCTTGCTTATCAACATAATAATTTATACACTTCTCCCATTTTGTATCAGGTGTGTTGCTGGCCAGGAGCTGATGGCTCACTGGGCTCTTGGAGGGGAATGTGAAGAAACCAAGGAGTCACTTTTTCATCTAGATTACTTAGGATTCCTTGACTTTTCAGAAGTCGGGAAGCAGTATGTTTGCCTGTTGTAGACCTACTTGCTCACATGCAGATTTGAGAGGACCTCAACGGCTTTTCTCACAAAATCGCTGATTGTTTTTCTTTTTTTGAGATGGAGTCTCGCTGTCGCCCGGGCTGCAGTGCAGTGGCGTGATCTTGGCCCACTACAACCTCCACCTCCTGGATTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGAATTAGAGGCCCCTACCACTACACTGGGCTTTTTTTTTTTTTTTTTTTTCTGGAGATGAGTCTTGCTCTTTCGCCAGGGTGGAGTGCAGTGGCGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTTCAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTAGAGGTATGCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAAGGGTTCACCATGTTGGCCAGGATGGTCTCGAACTCCTGATCTCAAGTGATCCACCTGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCAATGTGCCTGGCCGAGAGAGATTCAAGTTAGGGAATATATATGTGTGTTGACCTGGTCCTATATGGCCAAGCTATGGGCTAGCAGGATGCCCTGTGTATGCCAGTCCCAGGGCTTGTTCTTTGACCCCTTGGGAGCCAGAGTCAGATGCTCAGTGTGAGACTGAAACCCCAAGAGCCATAGCTATAGCTATAGTCAGCTGTTTTGTGAGCAGCCTCAGGAGGAACTTTTTGGACCTGGAACTACCCGC
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TTGGCAAGGCCCCTTTCTGGGCCAGGGCTGAGGCCCTGCTGGGAGGCGCCGAAAGAGCACTGGGCGGACACGACATTCCCGATGGCTTCTCGGGTGCCCACTCAACGGGAGTGATCGTGTCATTCCAAAGCGCTTTCCATTCTGAAGGTGCATGACCTGGAGACAACTGCTTAGCAGGGTTGGGAACCCTCAGTCAAACTGAGGACTTCAGATACTCTCATCCACGAAGACGGTTGGGGTGGTTTTTCCCCAGGAAGTAAGAGGGCTATCTTTAGCGAGATGCGGGCTGAGGCAGCCCTGGGGGAGTCACTACCATTGCAGCCCTACCCAGAGGTCCTGGGTCCACCCTCCCTCGCCAATCCTCCCCAGGGTTCCAGAGATGGCCACCAGCCTCGGCTCTCCCACGTCTACACCCATCACCTCCAGCCTGAGGGCGCAACTGAGAGGAACTGAGACCCAAGCAGCTCAGTAAAGTATGTCTGGGGGTCAGGGGCACCCCATCTGGGCCAGGGCGCTGCTCAGGCAGGAGAGCAGGGGACGAAATCCAAGCGCAGCTGGAATGCTCTGGAGACAACAGCTGCTTTTGGGATTCCGTTGCCCGCTGTCCAGCCGTTGGCGGGGGGCGGGGGAGCTCCTGCCCCCAGGTCACTCGCCCTGGGGCCACATCAGAACCCGCCCATCCCCAGTCCCAGGAGGAAGACCCGGGAGTAGGTTGTGAAACGGAGTCTAGAGGGAACAAGACGCTCACCTGGGCCACAGAACAATAGAAGGGGAGGTGGGGGCCTCCCCTGGGACCGGGTCCCGATCCGGATTAGATCCGTGGGGCAGGATTAGCCCTGTTGGTCCCACGAAGCCTGGGCCACTGGTGCGGTGACGGTGGTGGGGCGGGCTTCGGAATCCGTCAGGAGGGAAGCGCGCCCGTGGGGCCGGAGAGGAAGTAAACCCGCGCGTCCACCTCGGGGACACCCCCGCGCTCGGTGGCCTTTGTCCGGTGACGCTGCCAGCGCCCGGAGCACCAGGGGCCGAAGGGGTCCACAGAGCAGCCGCGGGACCCCCGGAAACCCATTGCGACCGGCCCCAGGAGACCCACCACCAGGCTCCCACTGTGCCGAGCTTCCCGCTCGCCCGGCCCCGCGGGTAGCGAAAGCGACAATGTTCCCCTGAGGCCACGACAGAGCCGGCGTGCCGAGATGCCCAAACCCCGCGCGGGGGCCAGCGACTCTCGCGCCAGTAGGCCCTTGACTTGGATCAAGACGGGGGACGGGGGACTCCCAGGACGCGAGCAGAGTGAACGAGGACAAGGTGATGCTCCACGCGCTTCTACTTCAAGTCTGGTCCGGTTCGGCCTGGTCTGGGCCAGCCGAACAGCCACCCAAACACTATCACAGCTTGCCCTTCCGCTTGCTCTGGCTGCCTGCAGACTTGGAGCCATTTTAAGGAGAAACCACCTGGCCACGCCCCCTAGAGAACCCGAGAAGCCAATCCACGCTCGGCCACGCCCCTCTCCGCGCGCTGCGGAGAGGCCAACGGTCGCGCGGGTGACGGTTAGGGCGGGGCGTGCTTCCGCGTCTAGCCGGAGAAACTTGAGCCGGCTGCCCCGCCCACGGTGCCCGAAGCCCCAAAGGCTGGAATTAGGGGCTAGAAGTCTGGCACCCACCGCCTGGCCAGGTGTTCGGGACGCGACCAGGTGGGCGGTCGCCCCGCCCCGGGAGCGCGGCTTAATAGCTGAGAGCCCGGGGGCCAGGCCGCGGCTGCGGCCCAGGCAACGCCCTGAGGGTGGCCACGCTGCCAGGTGTTCCACTCCCCCGGGACTATGGGCAAGGGCCCGGGGCGGGGAGGGCGGCAGGTGCTGACACTGGAGCTGCGCCGGAGGTCGGGGAACTCGGCCTCCTAAGACTGAGGACACTCGCCTGCTGGGCCGGTCGAGCTGTGCGGTGCCCTCCGGGACGCAGGGGGCGCTGCAGCCACGCTGGGTCAGGCTCCGCAGGGCCCTCCCAACCCGGGGACTAACGGCGCCGGTGACGACTTCGCCGCGCGTTGGTCAGCCACGGCCACCGCTCTCGCGCTACGTAGCTTGTACCGAGCGCGACCCTCGCTGCGCTGTCCGCCCGTTGAGCTTCCCTGGTGAGCTTGGACCCCGCGCCCTCGACCATCCAGCCCCCTAGGGCCGGCGACTGCCAGCCCAGCACCTTCCGGCCTCTCGGGCTGCCCGGCCCGGCCCCGCGCCCCTGACCCTTTCCCTCCGCAGGGCCCCGCGGCGAGGGCATCGGCTCTCGCCGGCGGATGACGAGCTGTATCAGCGGACGCGCATCTCTCTGCTGCAACGCGAGGCCGCTCAGGCAATGTACATCGACAGCTACAACAGCCGCGGCTTCATGATAAACGGAAACCGCGTGCTCGGCCCCTGCGCTCTGCTCCCGCACTCGGTGGTGCAGTGGAACGTGAGTCCTGGCCCGCAGTGTGGAAACTGAGGCCCAGAGTCACAGGCCCTCACCCTGCTTGGTCCCTGCAAACTTGGCTTTCCTCTGTCTCCTCCTGCAGTGGATGGAGATGGGGAGAGGCTGCGTGGATTTGTCGTATTAAATGTGCCTCCTCCCTGCACAGGTGGGATCCCACCAGGACATCACCGAAGACAGCTTTTCCCTCTTCTGGTTGCTGGAGCCCCGGATAGGTACTGGGGAAGGGGAGGGAGAACAGAGGTGTTCTGGGCCCCAGAAGGCGACCCCCACTGCAGCCTCTCAACAGAACTGTAGACTAGCCACACCCACCCTTCCCTAGAGATCGTGGTGGTGGGGACTGGAGACCGGACCGAGAGGCTGCAGTCCCAGGTGCTTCAAGCCATGAGGCAGCGGGGCATTGCTGTGGAAGTGCAGGACACGGTGAGTCCCGGGACTGGGGCATGCTGCGGGGAGCACAGGCCTGGCGCTAGACAGGCTGATGCTGGCCTTTTCTTTGCAGCCCAATGCCTGTGCCACCTTCAACTTCCTGTGTCATGAAGGCCGAGTAACTGGAGCTGCTCTCATCCCTCCACCAGGAGGGACTTCACTTACATCTTTGGGCCAAGCTGCTCAATGAACCGCCAGGAACTGACCTGCTGACTGCACTCTGCCAGGCTTCCCAATGCTTTCACTCTTATCTACCCTTTGGCACTTATCTTGCTTATCAACATAATAATTTATACACTTCTCCCATTTTGTATCAGGTGTGTTGCTGGCCAGGAGCTGATGGCTCACTGGGCTCTTGGAGGGGAATGTGAAGAAACCAAGGAGTCACTTTTTCATCTAGATTACTTAGGATTCCTTGACTTTTCAGAAGTCGGGAAGCAGTATGTTTGCCTGTTGTAGACCTACTTGCTCACATGCAGATTTGAGAGGACCTCAACGGCTTTTCTCACAAAATCGCTGATTGTTTTTCTTTTTTTGAGATGGAGTCTCGCTGTCGCCCGGGCTGCAGTGCAGTGGCGTGATCTTGGCCCACTACAACCTCCACCTCCTGGATTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGAATTAGAGGCCCCTACCACTACACTGGGCTTTTTTTTTTTTTTTTTTTTCTGGAGATGAGTCTTGCTCTTTCGCCAGGGTGGAGTGCAGTGGCGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTTCAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTAGAGGTATGCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAAGGGTTCACCATGTTGGCCAGGATGGTCTCGAACTCCTGATCTCAAGTGATCCACCTGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCAATGTGCCTGGCCGAGAGAGATTCAAGTTAGGGAATATATATGTGTGTTGACCTGGTCCTATATGGCCAAGCTATGGGCTAGCAGGATGCCCTGTGTATGCCAGTCCCAGGGCTTGTTCTTTGACCCCTTGGGAGCCAGAGTCAGATGCTCAGTGTGAGACTGAAACCCCAAGAGCCATAGCTATAGCTATAGTCAGCTGTTTTGTGAGCAGCCTCAGGAGGAACTTTTTGGACCTGGAACTACCCGC
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Task1_train_6995
|
Gene LOC129936731, NDUFAF3 (ATAC-STARR-seq lymphoblastoid silent region 14351| NADH:ubiquinone oxidoreductase complex assembly factor 3) 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; Mitochondrial complex 1 deficiency, nuclear type 18
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CTCGCCAATCCTCCCCAGGGTTCCAGAGATGGCCACCAGCCTCGGCTCTCCCACGTCTACACCCATCACCTCCAGCCTGAGGGCGCAACTGAGAGGAACTGAGACCCAAGCAGCTCAGTAAAGTATGTCTGGGGGTCAGGGGCACCCCATCTGGGCCAGGGCGCTGCTCAGGCAGGAGAGCAGGGGACGAAATCCAAGCGCAGCTGGAATGCTCTGGAGACAACAGCTGCTTTTGGGATTCCGTTGCCCGCTGTCCAGCCGTTGGCGGGGGGCGGGGGAGCTCCTGCCCCCAGGTCACTCGCCCTGGGGCCACATCAGAACCCGCCCATCCCCAGTCCCAGGAGGAAGACCCGGGAGTAGGTTGTGAAACGGAGTCTAGAGGGAACAAGACGCTCACCTGGGCCACAGAACAATAGAAGGGGAGGTGGGGGCCTCCCCTGGGACCGGGTCCCGATCCGGATTAGATCCGTGGGGCAGGATTAGCCCTGTTGGTCCCACGAAGCCTGGGCCACTGGTGCGGTGACGGTGGTGGGGCGGGCTTCGGAATCCGTCAGGAGGGAAGCGCGCCCGTGGGGCCGGAGAGGAAGTAAACCCGCGCGTCCACCTCGGGGACACCCCCGCGCTCGGTGGCCTTTGTCCGGTGACGCTGCCAGCGCCCGGAGCACCAGGGGCCGAAGGGGTCCACAGAGCAGCCGCGGGACCCCCGGAAACCCATTGCGACCGGCCCCAGGAGACCCACCACCAGGCTCCCACTGTGCCGAGCTTCCCGCTCGCCCGGCCCCGCGGGTAGCGAAAGCGACAATGTTCCCCTGAGGCCACGACAGAGCCGGCGTGCCGAGATGCCCAAACCCCGCGCGGGGGCCAGCGACTCTCGCGCCAGTAGGCCCTTGACTTGGATCAAGACGGGGGACGGGGGACTCCCAGGACGCGAGCAGAGTGAACGAGGACAAGGTGATGCTCCACGCGCTTCTACTTCAAGTCTGGTCCGGTTCGGCCTGGTCTGGGCCAGCCGAACAGCCACCCAAACACTATCACAGCTTGCCCTTCCGCTTGCTCTGGCTGCCTGCAGACTTGGAGCCATTTTAAGGAGAAACCACCTGGCCACGCCCCCTAGAGAACCCGAGAAGCCAATCCACGCTCGGCCACGCCCCTCTCCGCGCGCTGCGGAGAGGCCAACGGTCGCGCGGGTGACGGTTAGGGCGGGGCGTGCTTCCGCGTCTAGCCGGAGAAACTTGAGCCGGCTGCCCCGCCCACGGTGCCCGAAGCCCCAAAGGCTGGAATTAGGGGCTAGAAGTCTGGCACCCACCGCCTGGCCAGGTGTTCGGGACGCGACCAGGTGGGCGGTCGCCCCGCCCCGGGAGCGCGGCTTAATAGCTGAGAGCCCGGGGGCCAGGCCGCGGCTGCGGCCCAGGCAACGCCCTGAGGGTGGCCACGCTGCCAGGTGTTCCACTCCCCCGGGACTATGGGCAAGGGCCCGGGGCGGGGAGGGCGGCAGGTGCTGACACTGGAGCTGCGCCGGAGGTCGGGGAACTCGGCCTCCTAAGACTGAGGACACTCGCCTGCTGGGCCGGTCGAGCTGTGCGGTGCCCTCCGGGACGCAGGGGGCGCTGCAGCCACGCTGGGTCAGGCTCCGCAGGGCCCTCCCAACCCGGGGACTAACGGCGCCGGTGACGACTTCGCCGCGCGTTGGTCAGCCATGGCCACCGCTCTCGCGCTACGTAGCTTGTACCGAGCGCGACCCTCGCTGCGCTGTCCGCCCGTTGAGCTTCCCTGGTGAGCTTGGACCCCGCGCCCTCGACCATCCAGCCCCCTAGGGCCGGCGACTGCCAGCCCAGCACCTTCCGGCCTCTCGGGCTGCCCGGCCCGGCCCCGCGCCCCTGACCCTTTCCCTCCGCAGGGCCCCGCGGCGAGGGCATCGGCTCTCGCCGGCGGATGACGAGCTGTATCAGCGGACGCGCATCTCTCTGCTGCAACGCGAGGCCGCTCAGGCAATGTACATCGACAGCTACAACAGCCGCGGCTTCATGATAAACGGAAACCGCGTGCTCGGCCCCTGCGCTCTGCTCCCGCACTCGGTGGTGCAGTGGAACGTGAGTCCTGGCCCGCAGTGTGGAAACTGAGGCCCAGAGTCACAGGCCCTCACCCTGCTTGGTCCCTGCAAACTTGGCTTTCCTCTGTCTCCTCCTGCAGTGGATGGAGATGGGGAGAGGCTGCGTGGATTTGTCGTATTAAATGTGCCTCCTCCCTGCACAGGTGGGATCCCACCAGGACATCACCGAAGACAGCTTTTCCCTCTTCTGGTTGCTGGAGCCCCGGATAGGTACTGGGGAAGGGGAGGGAGAACAGAGGTGTTCTGGGCCCCAGAAGGCGACCCCCACTGCAGCCTCTCAACAGAACTGTAGACTAGCCACACCCACCCTTCCCTAGAGATCGTGGTGGTGGGGACTGGAGACCGGACCGAGAGGCTGCAGTCCCAGGTGCTTCAAGCCATGAGGCAGCGGGGCATTGCTGTGGAAGTGCAGGACACGGTGAGTCCCGGGACTGGGGCATGCTGCGGGGAGCACAGGCCTGGCGCTAGACAGGCTGATGCTGGCCTTTTCTTTGCAGCCCAATGCCTGTGCCACCTTCAACTTCCTGTGTCATGAAGGCCGAGTAACTGGAGCTGCTCTCATCCCTCCACCAGGAGGGACTTCACTTACATCTTTGGGCCAAGCTGCTCAATGAACCGCCAGGAACTGACCTGCTGACTGCACTCTGCCAGGCTTCCCAATGCTTTCACTCTTATCTACCCTTTGGCACTTATCTTGCTTATCAACATAATAATTTATACACTTCTCCCATTTTGTATCAGGTGTGTTGCTGGCCAGGAGCTGATGGCTCACTGGGCTCTTGGAGGGGAATGTGAAGAAACCAAGGAGTCACTTTTTCATCTAGATTACTTAGGATTCCTTGACTTTTCAGAAGTCGGGAAGCAGTATGTTTGCCTGTTGTAGACCTACTTGCTCACATGCAGATTTGAGAGGACCTCAACGGCTTTTCTCACAAAATCGCTGATTGTTTTTCTTTTTTTGAGATGGAGTCTCGCTGTCGCCCGGGCTGCAGTGCAGTGGCGTGATCTTGGCCCACTACAACCTCCACCTCCTGGATTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGAATTAGAGGCCCCTACCACTACACTGGGCTTTTTTTTTTTTTTTTTTTTCTGGAGATGAGTCTTGCTCTTTCGCCAGGGTGGAGTGCAGTGGCGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTTCAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTAGAGGTATGCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAAGGGTTCACCATGTTGGCCAGGATGGTCTCGAACTCCTGATCTCAAGTGATCCACCTGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCAATGTGCCTGGCCGAGAGAGATTCAAGTTAGGGAATATATATGTGTGTTGACCTGGTCCTATATGGCCAAGCTATGGGCTAGCAGGATGCCCTGTGTATGCCAGTCCCAGGGCTTGTTCTTTGACCCCTTGGGAGCCAGAGTCAGATGCTCAGTGTGAGACTGAAACCCCAAGAGCCATAGCTATAGCTATAGTCAGCTGTTTTGTGAGCAGCCTCAGGAGGAACTTTTTGGACCTGGAACTACCCGCTTCCAGGTCCATGGAGCACATTTATCTCGGGGCCTGAGGCTCCCCCTGGAAATGAGGGTGCTGTTTTTGTGTGCATCTGTGGTAGTGGCAGCTACAGAGCCCCACCTGTCTGTTGAAAGATCAGGCATCACTTTTTTCTTTCTAAACTTTTATTGAAAAAAAAACCGAGGAGGTGTGCTGGATCCCTTTTCAGAAAAGCCGCTTCTCATACCTGCAGGCAGAAGGACCACCTGTGAGGTGAGGGCAGGAGAAAGGAGGCATGAGGTATGGCAGAGGCCCCACCAAGGACAGGGTGACTTACGAATGGAGGCTATGGACGCCACCTTCCACCTGGGCTGAGGACGTTCTCTT
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CTCGCCAATCCTCCCCAGGGTTCCAGAGATGGCCACCAGCCTCGGCTCTCCCACGTCTACACCCATCACCTCCAGCCTGAGGGCGCAACTGAGAGGAACTGAGACCCAAGCAGCTCAGTAAAGTATGTCTGGGGGTCAGGGGCACCCCATCTGGGCCAGGGCGCTGCTCAGGCAGGAGAGCAGGGGACGAAATCCAAGCGCAGCTGGAATGCTCTGGAGACAACAGCTGCTTTTGGGATTCCGTTGCCCGCTGTCCAGCCGTTGGCGGGGGGCGGGGGAGCTCCTGCCCCCAGGTCACTCGCCCTGGGGCCACATCAGAACCCGCCCATCCCCAGTCCCAGGAGGAAGACCCGGGAGTAGGTTGTGAAACGGAGTCTAGAGGGAACAAGACGCTCACCTGGGCCACAGAACAATAGAAGGGGAGGTGGGGGCCTCCCCTGGGACCGGGTCCCGATCCGGATTAGATCCGTGGGGCAGGATTAGCCCTGTTGGTCCCACGAAGCCTGGGCCACTGGTGCGGTGACGGTGGTGGGGCGGGCTTCGGAATCCGTCAGGAGGGAAGCGCGCCCGTGGGGCCGGAGAGGAAGTAAACCCGCGCGTCCACCTCGGGGACACCCCCGCGCTCGGTGGCCTTTGTCCGGTGACGCTGCCAGCGCCCGGAGCACCAGGGGCCGAAGGGGTCCACAGAGCAGCCGCGGGACCCCCGGAAACCCATTGCGACCGGCCCCAGGAGACCCACCACCAGGCTCCCACTGTGCCGAGCTTCCCGCTCGCCCGGCCCCGCGGGTAGCGAAAGCGACAATGTTCCCCTGAGGCCACGACAGAGCCGGCGTGCCGAGATGCCCAAACCCCGCGCGGGGGCCAGCGACTCTCGCGCCAGTAGGCCCTTGACTTGGATCAAGACGGGGGACGGGGGACTCCCAGGACGCGAGCAGAGTGAACGAGGACAAGGTGATGCTCCACGCGCTTCTACTTCAAGTCTGGTCCGGTTCGGCCTGGTCTGGGCCAGCCGAACAGCCACCCAAACACTATCACAGCTTGCCCTTCCGCTTGCTCTGGCTGCCTGCAGACTTGGAGCCATTTTAAGGAGAAACCACCTGGCCACGCCCCCTAGAGAACCCGAGAAGCCAATCCACGCTCGGCCACGCCCCTCTCCGCGCGCTGCGGAGAGGCCAACGGTCGCGCGGGTGACGGTTAGGGCGGGGCGTGCTTCCGCGTCTAGCCGGAGAAACTTGAGCCGGCTGCCCCGCCCACGGTGCCCGAAGCCCCAAAGGCTGGAATTAGGGGCTAGAAGTCTGGCACCCACCGCCTGGCCAGGTGTTCGGGACGCGACCAGGTGGGCGGTCGCCCCGCCCCGGGAGCGCGGCTTAATAGCTGAGAGCCCGGGGGCCAGGCCGCGGCTGCGGCCCAGGCAACGCCCTGAGGGTGGCCACGCTGCCAGGTGTTCCACTCCCCCGGGACTATGGGCAAGGGCCCGGGGCGGGGAGGGCGGCAGGTGCTGACACTGGAGCTGCGCCGGAGGTCGGGGAACTCGGCCTCCTAAGACTGAGGACACTCGCCTGCTGGGCCGGTCGAGCTGTGCGGTGCCCTCCGGGACGCAGGGGGCGCTGCAGCCACGCTGGGTCAGGCTCCGCAGGGCCCTCCCAACCCGGGGACTAACGGCGCCGGTGACGACTTCGCCGCGCGTTGGTCAGCCATGGCCACCGCTCTCGCGCTACGTAGCTTGTACCGAGCGCGACCCTCGCTGCGCTGTCCGCCCGTTGAGCTTCCCTGGTGAGCTTGGACCCCGCGCCCTCGACCATCCAGCCCCCTAGGGCCGGCGACTGCCAGCCCAGCACCTTCCGGCCTCTCGGGCTGCCCGGCCCGGCCCCGCGCCCCTGACCCTTTCCCTCCGCAGGGCCCCGCGGCGAGGGCATCGGCTCTCGCCGGCGGATGACGAGCTGTATCAGCGGACGCGCATCTCTCTGCTGCAACGCGAGGCCGCTCAGGCAATGTACATCGACAGCTACAACAGCCGCGGCTTCATGATAAACGGAAACCGCGTGCTCCGCCCCTGCGCTCTGCTCCCGCACTCGGTGGTGCAGTGGAACGTGAGTCCTGGCCCGCAGTGTGGAAACTGAGGCCCAGAGTCACAGGCCCTCACCCTGCTTGGTCCCTGCAAACTTGGCTTTCCTCTGTCTCCTCCTGCAGTGGATGGAGATGGGGAGAGGCTGCGTGGATTTGTCGTATTAAATGTGCCTCCTCCCTGCACAGGTGGGATCCCACCAGGACATCACCGAAGACAGCTTTTCCCTCTTCTGGTTGCTGGAGCCCCGGATAGGTACTGGGGAAGGGGAGGGAGAACAGAGGTGTTCTGGGCCCCAGAAGGCGACCCCCACTGCAGCCTCTCAACAGAACTGTAGACTAGCCACACCCACCCTTCCCTAGAGATCGTGGTGGTGGGGACTGGAGACCGGACCGAGAGGCTGCAGTCCCAGGTGCTTCAAGCCATGAGGCAGCGGGGCATTGCTGTGGAAGTGCAGGACACGGTGAGTCCCGGGACTGGGGCATGCTGCGGGGAGCACAGGCCTGGCGCTAGACAGGCTGATGCTGGCCTTTTCTTTGCAGCCCAATGCCTGTGCCACCTTCAACTTCCTGTGTCATGAAGGCCGAGTAACTGGAGCTGCTCTCATCCCTCCACCAGGAGGGACTTCACTTACATCTTTGGGCCAAGCTGCTCAATGAACCGCCAGGAACTGACCTGCTGACTGCACTCTGCCAGGCTTCCCAATGCTTTCACTCTTATCTACCCTTTGGCACTTATCTTGCTTATCAACATAATAATTTATACACTTCTCCCATTTTGTATCAGGTGTGTTGCTGGCCAGGAGCTGATGGCTCACTGGGCTCTTGGAGGGGAATGTGAAGAAACCAAGGAGTCACTTTTTCATCTAGATTACTTAGGATTCCTTGACTTTTCAGAAGTCGGGAAGCAGTATGTTTGCCTGTTGTAGACCTACTTGCTCACATGCAGATTTGAGAGGACCTCAACGGCTTTTCTCACAAAATCGCTGATTGTTTTTCTTTTTTTGAGATGGAGTCTCGCTGTCGCCCGGGCTGCAGTGCAGTGGCGTGATCTTGGCCCACTACAACCTCCACCTCCTGGATTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGAATTAGAGGCCCCTACCACTACACTGGGCTTTTTTTTTTTTTTTTTTTTCTGGAGATGAGTCTTGCTCTTTCGCCAGGGTGGAGTGCAGTGGCGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTTCAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTAGAGGTATGCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAAGGGTTCACCATGTTGGCCAGGATGGTCTCGAACTCCTGATCTCAAGTGATCCACCTGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCAATGTGCCTGGCCGAGAGAGATTCAAGTTAGGGAATATATATGTGTGTTGACCTGGTCCTATATGGCCAAGCTATGGGCTAGCAGGATGCCCTGTGTATGCCAGTCCCAGGGCTTGTTCTTTGACCCCTTGGGAGCCAGAGTCAGATGCTCAGTGTGAGACTGAAACCCCAAGAGCCATAGCTATAGCTATAGTCAGCTGTTTTGTGAGCAGCCTCAGGAGGAACTTTTTGGACCTGGAACTACCCGCTTCCAGGTCCATGGAGCACATTTATCTCGGGGCCTGAGGCTCCCCCTGGAAATGAGGGTGCTGTTTTTGTGTGCATCTGTGGTAGTGGCAGCTACAGAGCCCCACCTGTCTGTTGAAAGATCAGGCATCACTTTTTTCTTTCTAAACTTTTATTGAAAAAAAAACCGAGGAGGTGTGCTGGATCCCTTTTCAGAAAAGCCGCTTCTCATACCTGCAGGCAGAAGGACCACCTGTGAGGTGAGGGCAGGAGAAAGGAGGCATGAGGTATGGCAGAGGCCCCACCAAGGACAGGGTGACTTACGAATGGAGGCTATGGACGCCACCTTCCACCTGGGCTGAGGACGTTCTCTT
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Task1_train_6996
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A sequence alteration has been identified in NDUFAF3 (NADH:ubiquinone oxidoreductase complex assembly factor 3) on Chromosome 3. Is it disease-inducing or harmless?
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Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 18
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AGAACAATAGAAGGGGAGGTGGGGGCCTCCCCTGGGACCGGGTCCCGATCCGGATTAGATCCGTGGGGCAGGATTAGCCCTGTTGGTCCCACGAAGCCTGGGCCACTGGTGCGGTGACGGTGGTGGGGCGGGCTTCGGAATCCGTCAGGAGGGAAGCGCGCCCGTGGGGCCGGAGAGGAAGTAAACCCGCGCGTCCACCTCGGGGACACCCCCGCGCTCGGTGGCCTTTGTCCGGTGACGCTGCCAGCGCCCGGAGCACCAGGGGCCGAAGGGGTCCACAGAGCAGCCGCGGGACCCCCGGAAACCCATTGCGACCGGCCCCAGGAGACCCACCACCAGGCTCCCACTGTGCCGAGCTTCCCGCTCGCCCGGCCCCGCGGGTAGCGAAAGCGACAATGTTCCCCTGAGGCCACGACAGAGCCGGCGTGCCGAGATGCCCAAACCCCGCGCGGGGGCCAGCGACTCTCGCGCCAGTAGGCCCTTGACTTGGATCAAGACGGGGGACGGGGGACTCCCAGGACGCGAGCAGAGTGAACGAGGACAAGGTGATGCTCCACGCGCTTCTACTTCAAGTCTGGTCCGGTTCGGCCTGGTCTGGGCCAGCCGAACAGCCACCCAAACACTATCACAGCTTGCCCTTCCGCTTGCTCTGGCTGCCTGCAGACTTGGAGCCATTTTAAGGAGAAACCACCTGGCCACGCCCCCTAGAGAACCCGAGAAGCCAATCCACGCTCGGCCACGCCCCTCTCCGCGCGCTGCGGAGAGGCCAACGGTCGCGCGGGTGACGGTTAGGGCGGGGCGTGCTTCCGCGTCTAGCCGGAGAAACTTGAGCCGGCTGCCCCGCCCACGGTGCCCGAAGCCCCAAAGGCTGGAATTAGGGGCTAGAAGTCTGGCACCCACCGCCTGGCCAGGTGTTCGGGACGCGACCAGGTGGGCGGTCGCCCCGCCCCGGGAGCGCGGCTTAATAGCTGAGAGCCCGGGGGCCAGGCCGCGGCTGCGGCCCAGGCAACGCCCTGAGGGTGGCCACGCTGCCAGGTGTTCCACTCCCCCGGGACTATGGGCAAGGGCCCGGGGCGGGGAGGGCGGCAGGTGCTGACACTGGAGCTGCGCCGGAGGTCGGGGAACTCGGCCTCCTAAGACTGAGGACACTCGCCTGCTGGGCCGGTCGAGCTGTGCGGTGCCCTCCGGGACGCAGGGGGCGCTGCAGCCACGCTGGGTCAGGCTCCGCAGGGCCCTCCCAACCCGGGGACTAACGGCGCCGGTGACGACTTCGCCGCGCGTTGGTCAGCCATGGCCACCGCTCTCGCGCTACGTAGCTTGTACCGAGCGCGACCCTCGCTGCGCTGTCCGCCCGTTGAGCTTCCCTGGTGAGCTTGGACCCCGCGCCCTCGACCATCCAGCCCCCTAGGGCCGGCGACTGCCAGCCCAGCACCTTCCGGCCTCTCGGGCTGCCCGGCCCGGCCCCGCGCCCCTGACCCTTTCCCTCCGCAGGGCCCCGCGGCGAGGGCATCGGCTCTCGCCGGCGGATGACGAGCTGTATCAGCGGACGCGCATCTCTCTGCTGCAACGCGAGGCCGCTCAGGCAATGTACATCGACAGCTACAACAGCCGCGGCTTCATGATAAACGGAAACCGCGTGCTCGGCCCCTGCGCTCTGCTCCCGCACTCGGTGGTGCAGTGGAACGTGAGTCCTGGCCCGCAGTGTGGAAACTGAGGCCCAGAGTCACAGGCCCTCACCCTGCTTGGTCCCTGCAAACTTGGCTTTCCTCTGTCTCCTCCTGCAGTGGATGGAGATGGGGAGAGGCTGCGTGGATTTGTCGTATTAAATGTGCCTCCTCCCTGCACAGGTGGGATCCCACCAGGACATCACCGAAGACAGCTTTTCCCTCTTCTGGTTGCTGGAGCCCCGGATAGGTACTGGGGAAGGGGAGGGAGAACAGAGGTGTTCTGGGCCCCAGAAGGCGACCCCCACTGCAGCCTCTCAACAGAACTGTAGACTAGCCACACCCACCCTTCCCTAGAGATCGTGGTGGTGGGGACTGGAGACCGGACCGAGAGGCTGCAGTCCCAGGTGCTTCAAGCCATGAGGCAGCGGGGCATTGCTGTGGAAGTGCAGGACACGGTGAGTCCCGGGACTGGGGCATGCTGCGGGGAGCACAGGCCTGGCGCTAGACAGGCTGATGCTGGCCTTTTCTTTGCAGCCCAATGCCTGTGCCACCTTCAACTTCCTGTGTCATGAAGGCCGAGTAACTGGAGCTGCTCTCATCCCTCCACCAGGAGGGACTTCACTTACATCTTTGGGCCAAGCTGCTCAATGAACCGCCAGGAACTGACCTGCTGACTGCACTCTGCCAGGCTTCCCAATGCTTTCACTCTTATCTACCCTTTGGCACTTATCTTGCTTATCAACATAATAATTTATACACTTCTCCCATTTTGTATCAGGTGTGTTGCTGGCCAGGAGCTGATGGCTCACTGGGCTCTTGGAGGGGAATGTGAAGAAACCAAGGAGTCACTTTTTCATCTAGATTACTTAGGATTCCTTGACTTTTCAGAAGTCGGGAAGCAGTATGTTTGCCTGTTGTAGACCTACTTGCTCACATGCAGATTTGAGAGGACCTCAACGGCTTTTCTCACAAAATCGCTGATTGTTTTTCTTTTTTTGAGATGGAGTCTCGCTGTCGCCCGGGCTGCAGTGCAGTGGCGTGATCTTGGCCCACTACAACCTCCACCTCCTGGATTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGAATTAGAGGCCCCTACCACTACACTGGGCTTTTTTTTTTTTTTTTTTTTCTGGAGATGAGTCTTGCTCTTTCGCCAGGGTGGAGTGCAGTGGCGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTTCAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTAGAGGTATGCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAAGGGTTCACCATGTTGGCCAGGATGGTCTCGAACTCCTGATCTCAAGTGATCCACCTGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCAATGTGCCTGGCCGAGAGAGATTCAAGTTAGGGAATATATATGTGTGTTGACCTGGTCCTATATGGCCAAGCTATGGGCTAGCAGGATGCCCTGTGTATGCCAGTCCCAGGGCTTGTTCTTTGACCCCTTGGGAGCCAGAGTCAGATGCTCAGTGTGAGACTGAAACCCCAAGAGCCATAGCTATAGCTATAGTCAGCTGTTTTGTGAGCAGCCTCAGGAGGAACTTTTTGGACCTGGAACTACCCGCTTCCAGGTCCATGGAGCACATTTATCTCGGGGCCTGAGGCTCCCCCTGGAAATGAGGGTGCTGTTTTTGTGTGCATCTGTGGTAGTGGCAGCTACAGAGCCCCACCTGTCTGTTGAAAGATCAGGCATCACTTTTTTCTTTCTAAACTTTTATTGAAAAAAAAACCGAGGAGGTGTGCTGGATCCCTTTTCAGAAAAGCCGCTTCTCATACCTGCAGGCAGAAGGACCACCTGTGAGGTGAGGGCAGGAGAAAGGAGGCATGAGGTATGGCAGAGGCCCCACCAAGGACAGGGTGACTTACGAATGGAGGCTATGGACGCCACCTTCCACCTGGGCTGAGGACGTTCTCTTCTCAAACTTAAGCTCCCCAGAGTACATCATGGCTCTGAAGAAGGGCAGAGGTCAAATGTGGGTAGCTGGCCCTGGACCAGCCCCTCTACCCATGTCCCAGCTCCCCAAGCTCACCGGACTTGGGTCAAGCTCTTGGCACCAATGTCCTGGCATGAGTGTTGGATGCCAGCAATCAGGTAAGGGACAAATTTGTGGATTGACCCTTTGTCCTGCACAGCACCAGACACTCCCTGGGCCACTTTGATTTTGTCAGCTTCACTGCAGGGAGAGGCAGAGACACGGGCAAGGTCACAGCAGAGATGAGACTGTCAGTGCAGGATTAGGGTGGGGTAACTGGCTTGCCTGTCCCACCTGAAATATCTGTTCTGGCTGCTGAGGTGCTTGTCCATGGCATCGAGAGAACCCA
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AGAACAATAGAAGGGGAGGTGGGGGCCTCCCCTGGGACCGGGTCCCGATCCGGATTAGATCCGTGGGGCAGGATTAGCCCTGTTGGTCCCACGAAGCCTGGGCCACTGGTGCGGTGACGGTGGTGGGGCGGGCTTCGGAATCCGTCAGGAGGGAAGCGCGCCCGTGGGGCCGGAGAGGAAGTAAACCCGCGCGTCCACCTCGGGGACACCCCCGCGCTCGGTGGCCTTTGTCCGGTGACGCTGCCAGCGCCCGGAGCACCAGGGGCCGAAGGGGTCCACAGAGCAGCCGCGGGACCCCCGGAAACCCATTGCGACCGGCCCCAGGAGACCCACCACCAGGCTCCCACTGTGCCGAGCTTCCCGCTCGCCCGGCCCCGCGGGTAGCGAAAGCGACAATGTTCCCCTGAGGCCACGACAGAGCCGGCGTGCCGAGATGCCCAAACCCCGCGCGGGGGCCAGCGACTCTCGCGCCAGTAGGCCCTTGACTTGGATCAAGACGGGGGACGGGGGACTCCCAGGACGCGAGCAGAGTGAACGAGGACAAGGTGATGCTCCACGCGCTTCTACTTCAAGTCTGGTCCGGTTCGGCCTGGTCTGGGCCAGCCGAACAGCCACCCAAACACTATCACAGCTTGCCCTTCCGCTTGCTCTGGCTGCCTGCAGACTTGGAGCCATTTTAAGGAGAAACCACCTGGCCACGCCCCCTAGAGAACCCGAGAAGCCAATCCACGCTCGGCCACGCCCCTCTCCGCGCGCTGCGGAGAGGCCAACGGTCGCGCGGGTGACGGTTAGGGCGGGGCGTGCTTCCGCGTCTAGCCGGAGAAACTTGAGCCGGCTGCCCCGCCCACGGTGCCCGAAGCCCCAAAGGCTGGAATTAGGGGCTAGAAGTCTGGCACCCACCGCCTGGCCAGGTGTTCGGGACGCGACCAGGTGGGCGGTCGCCCCGCCCCGGGAGCGCGGCTTAATAGCTGAGAGCCCGGGGGCCAGGCCGCGGCTGCGGCCCAGGCAACGCCCTGAGGGTGGCCACGCTGCCAGGTGTTCCACTCCCCCGGGACTATGGGCAAGGGCCCGGGGCGGGGAGGGCGGCAGGTGCTGACACTGGAGCTGCGCCGGAGGTCGGGGAACTCGGCCTCCTAAGACTGAGGACACTCGCCTGCTGGGCCGGTCGAGCTGTGCGGTGCCCTCCGGGACGCAGGGGGCGCTGCAGCCACGCTGGGTCAGGCTCCGCAGGGCCCTCCCAACCCGGGGACTAACGGCGCCGGTGACGACTTCGCCGCGCGTTGGTCAGCCATGGCCACCGCTCTCGCGCTACGTAGCTTGTACCGAGCGCGACCCTCGCTGCGCTGTCCGCCCGTTGAGCTTCCCTGGTGAGCTTGGACCCCGCGCCCTCGACCATCCAGCCCCCTAGGGCCGGCGACTGCCAGCCCAGCACCTTCCGGCCTCTCGGGCTGCCCGGCCCGGCCCCGCGCCCCTGACCCTTTCCCTCCGCAGGGCCCCGCGGCGAGGGCATCGGCTCTCGCCGGCGGATGACGAGCTGTATCAGCGGACGCGCATCTCTCTGCTGCAACGCGAGGCCGCTCAGGCAATGTACATCGACAGCTACAACAGCCGCGGCTTCATGATAAACGGAAACCGCGTGCTCGGCCCCTGCGCTCTGCTCCCGCACTCGGTGGTGCAGTGGAACGTGAGTCCTGGCCCGCAGTGTGGAAACTGAGGCCCAGAGTCACAGGCCCTCACCCTGCTTGGTCCCTGCAAACTTGGCTTTCCTCTGTCTCCTCCTGCAGTGGATGGAGATGGGGAGAGGCTGCGTGGATTTGTCGTATTAAATGTGCCTCCTCCCTGCACAGGTGGGATCCCACCAGGACATCACCGAAGACAGCTTTTCCCTCTTCTGGTTGCTGGAGCCCCGGATAGGTACTGGGGAAGGGGAGGGAGAACAGAGGTGTTCTGGGCCCCAGAAGGCGACCCCCACTGCAGCCTCTCAACAGAACTGTAGACTAGCCACACCCACCCTTCCCTAGAGATCGTGGTGGTGGGGACTGGAGACCCGACCGAGAGGCTGCAGTCCCAGGTGCTTCAAGCCATGAGGCAGCGGGGCATTGCTGTGGAAGTGCAGGACACGGTGAGTCCCGGGACTGGGGCATGCTGCGGGGAGCACAGGCCTGGCGCTAGACAGGCTGATGCTGGCCTTTTCTTTGCAGCCCAATGCCTGTGCCACCTTCAACTTCCTGTGTCATGAAGGCCGAGTAACTGGAGCTGCTCTCATCCCTCCACCAGGAGGGACTTCACTTACATCTTTGGGCCAAGCTGCTCAATGAACCGCCAGGAACTGACCTGCTGACTGCACTCTGCCAGGCTTCCCAATGCTTTCACTCTTATCTACCCTTTGGCACTTATCTTGCTTATCAACATAATAATTTATACACTTCTCCCATTTTGTATCAGGTGTGTTGCTGGCCAGGAGCTGATGGCTCACTGGGCTCTTGGAGGGGAATGTGAAGAAACCAAGGAGTCACTTTTTCATCTAGATTACTTAGGATTCCTTGACTTTTCAGAAGTCGGGAAGCAGTATGTTTGCCTGTTGTAGACCTACTTGCTCACATGCAGATTTGAGAGGACCTCAACGGCTTTTCTCACAAAATCGCTGATTGTTTTTCTTTTTTTGAGATGGAGTCTCGCTGTCGCCCGGGCTGCAGTGCAGTGGCGTGATCTTGGCCCACTACAACCTCCACCTCCTGGATTCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGAATTAGAGGCCCCTACCACTACACTGGGCTTTTTTTTTTTTTTTTTTTTCTGGAGATGAGTCTTGCTCTTTCGCCAGGGTGGAGTGCAGTGGCGCAGTCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTTCAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTAGAGGTATGCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAAGGGTTCACCATGTTGGCCAGGATGGTCTCGAACTCCTGATCTCAAGTGATCCACCTGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCAATGTGCCTGGCCGAGAGAGATTCAAGTTAGGGAATATATATGTGTGTTGACCTGGTCCTATATGGCCAAGCTATGGGCTAGCAGGATGCCCTGTGTATGCCAGTCCCAGGGCTTGTTCTTTGACCCCTTGGGAGCCAGAGTCAGATGCTCAGTGTGAGACTGAAACCCCAAGAGCCATAGCTATAGCTATAGTCAGCTGTTTTGTGAGCAGCCTCAGGAGGAACTTTTTGGACCTGGAACTACCCGCTTCCAGGTCCATGGAGCACATTTATCTCGGGGCCTGAGGCTCCCCCTGGAAATGAGGGTGCTGTTTTTGTGTGCATCTGTGGTAGTGGCAGCTACAGAGCCCCACCTGTCTGTTGAAAGATCAGGCATCACTTTTTTCTTTCTAAACTTTTATTGAAAAAAAAACCGAGGAGGTGTGCTGGATCCCTTTTCAGAAAAGCCGCTTCTCATACCTGCAGGCAGAAGGACCACCTGTGAGGTGAGGGCAGGAGAAAGGAGGCATGAGGTATGGCAGAGGCCCCACCAAGGACAGGGTGACTTACGAATGGAGGCTATGGACGCCACCTTCCACCTGGGCTGAGGACGTTCTCTTCTCAAACTTAAGCTCCCCAGAGTACATCATGGCTCTGAAGAAGGGCAGAGGTCAAATGTGGGTAGCTGGCCCTGGACCAGCCCCTCTACCCATGTCCCAGCTCCCCAAGCTCACCGGACTTGGGTCAAGCTCTTGGCACCAATGTCCTGGCATGAGTGTTGGATGCCAGCAATCAGGTAAGGGACAAATTTGTGGATTGACCCTTTGTCCTGCACAGCACCAGACACTCCCTGGGCCACTTTGATTTTGTCAGCTTCACTGCAGGGAGAGGCAGAGACACGGGCAAGGTCACAGCAGAGATGAGACTGTCAGTGCAGGATTAGGGTGGGGTAACTGGCTTGCCTGTCCCACCTGAAATATCTGTTCTGGCTGCTGAGGTGCTTGTCCATGGCATCGAGAGAACCCA
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Task1_train_6997
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Consider this mutation in QARS1 (glutaminyl-tRNA synthetase 1) on Chromosome 3. Is this a benign change or a disease-causing variant?
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Pathogenic; not provided
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CATACCTCACCTCACCCTCAGGGACTCAGGGCCATGCCCATCCCTACCTTGAACTTCTTCTCCAGATCAGCCTCCAACTTGGGGCCCAGAAGGTGGAGGACCTGAGCAGAGACCAGAATCAGGCAGAGGCAGGAGTATCCTCTTTCAAGGAGCCCCTGACTGATCCTACCCACCAACCCAAGGCTTCCTGGCCTATCTACCAGCACTGACTGAAAAAACCTACCTAGCCCATCCCATCTCTTCTCATGTGGGTCTGCTAGCTTAAAATGCTCTTGCTCTTGTTGCCCAGACTGGAGTCTTGCTCATGTTGCCCAGGCTGGAATGCAATGGCACAGTCTCCGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTTTCCTACCTCAGCCCTTCTGAGTACCTGGGACTGCATGTGCCCGCCACCACACCCAGCTAATTTTTGTACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAATAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCCTCCCACCTTTTTTTATTGTTGTTGATTTTGAGACAGGGTCTCATTCTGTACTCCAGGATGGAGTGCAGTGGTGCAATCAGAGCTTACTGCAGCCTTGATCTCTTAGATTCAAGCAATCTTCCCACCACAGCCCCACAAATTGCTGGGACTACAGGTATACACCACCATGTCTGGCTAATTTTTAAATTTTCTGTAGAGAGGAGTTCTCAATATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATCAGAAGCGTGAGCCACCATGCCCAGCCCTCTTCCTGCCTTTTATCCCTTAGTGGATTCCAGGCTCTGTTCATGCCAGAGTCTTTGCCAGCTTCAGCTTAGTGAAGCACGCTCACCTGCATGTCCACTTCATTCTTGATCATTTTGCCATCTGCCCACTTCAGCACAGCCCGAGCCTCTCCTAGAAGCATAGGCACAAGGAGCTGCAGAAAGGCAAAAAAGAGTACTCCCCCCACCTCTTTCCCAAGGAAAGGTCCTGGCTGACCACCAGAACCAGAGCCTGAGCCCAGCCAGACCACTTTAAGTCACTCCTGTTCCTTCCCCCACCTCCTTCTCACTCGTGCCCAGAAGAAAAGGCATGACCAGAGAGAACAATATAGCCCCGTTCCAGGCCCTGCTCACCCATCAGCAGCCCCATGTTGAAATGGTAACGTTCCACCAGGAGCTGGGGCCGGTGCCTGTTAATAGCAGCCTCCACCTGCAGAAAGCCAAACCATGTGGTTCAGGAAAGCCACCTTTAGAGATATTCTGGGAACCCACACCCTCACTCTGGGTCTTCCTGAGGAGGGAAACTGAGCCACTCCTTTCCATGGCCAGGACTGGGGAGGCAGACGATGCCTGGGGAAAGACTCACAGCCTCCTCAATCTGCTCTGGGGTCACAATGACACCCACGCCACATTCCCGCTCGAAGTCCACAGTGTCGATGGGGTCCAAGGGGTGACTCCGCACATACTCAAGGGCAGCTGAGAAGAAAGAGCCCGTGAGTTTGTGGCATCTCTGCTCCAAGAAGTGGACAGACAGGGTCCTAATCTCATGAAACTCCAAGGATAGTCTGGCCTCCTGAAAAGTTAAGCCCTGGCACCACCACCCTAGAGAACACAGGGAAGAAAGAAGCACGTGTCGAGAGTGGATCCCCCCTCAGACCCTGACAGTTCCCGTGTCAGTCTCACCATAGGCCACCCCTTCCATGCCTCAGTGCCTGTGCAGAACTAGGTGTCTAGAAAGAAACTGGAGGACTTGGCAAAAAGGGAAGACAGGGGTCTTGGCTGAAGGGAGGCATTGGTGCGAACTGGCAGGACAGGTAGGGGTCTCACCGCTTAGCTGGGGCTCAGTGTGGATCTTCTTACTGGCTATGTAGCTTACAAGGAAGGAGAGACGCCGGGTATCCCTGAGTCGGGAGGCCAAGCCATATAACAGGATCCCGGTAGCTTTGTCAATGGTGGAACCCAGGGTCTGCTGAGCCTGAGGTCAGAGGGGTCAAGAGAGAAGCCCCGCGCTCAGTGAGAGGAAAGGGCGGGACAAACGGGGCAGGTCGGGATCTGGACCCCGCCCCGCGCTGCGTTGCAGCATGGTCTGCAAACCAGGCCGGGGGCAGAGGGGCTCGCACCTGAGTAGCGGCCTCGCGCAGCTGCGCGCTCAGAGCCGAGTTCTTGAGCGTCTCGCGGGCCTTCTGCTCGCTCAGGCCGAGGCTAGTGAAGAGCGACAGGGAGTCTAGAGCCGCCATTGCAGAGACACCGGAAACTAAAAGAAACTTAGGCCCCAGTCTGCAGGTCGGCATTCACTCGCTGACCAATGAGAGTGAAGCCTCCGGGGAGAGCCAATGGGGTCCTTCCTTGGCGGGAGGGGGCGGGGCGCTCCAAGGTCGTCTATCCCCTTTAAACAACACAGGGCGGACAAACCGGCCTTTCCGGGGGCTTTGCTTCCGCCTCCGTGGAACTGGGAACTTGAAGGGGTGTTGGCAGGCGGCAGGGCTTTTGGAGATATTTGCCACGGACCTGGAAGGAAGGTGTTCGTCCCTGAGGCAGGAGGAAGACACAGGCGTGGTTTTGCTCTGACTTTTCTACTTCAGCCCTGGTAACTCCATCTCAATATAGTAATTGTCCTCGGGGGCAAATGCGAGTCCCTGTCACGCTTTTGACGCCACAGCTTTGGAGTTGTCATGGAAACAGTTGAACAAATGAAGCCCAGGAAATCCCTCATCCAGACTCCATCGTAGAGAATGTGTGGAATGACCGATCCAGGGGCCCCATAAGTCCGCCGGTTTTCAGGTGCCCACTTGGACACAGCTGGCCAGGAAAGGGAAGGGACGGGTCTGGGCCAGGAGGGACCTCACATAAGTTCTATGATGATTTGGTTTAAAATCTTGGCCGGGCGCAGTGGCTCAGGCCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCGAGATCAGCCTCGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGATGGCGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGTCAACAGAGTAAGACTGTCTCAAAAAAAAAAAAAGAAAAGAAAAAAAAATCTCATCCCACACTTACCCTCTTGCCAAAGCATTATCAGGAAAACCACAAGCAAATTAGACCTTGAAATCCCTCTGCAGGCCTTTGAGAGGATATTTTATTGAGCTTGTGAGAGGGTGGGACAAATGAGATGGTTATAGCTTCATGATTATAGCTGTTGTGCTTGGGGATCTTTCCACAGTCTCACTGGACTTCCAGGACCTGCTGGCTGAAACAGAACAGAGACTTTGTGTGTGTGTGAGAAAAGGGACTAAGGTAGTAAGGGACTGAGGTAGGGGGTTGCAGAGAATGAGCAGCTGGTGGTGGGATGGTGGAAATCCCCACATTTGAGATTGGAGCTCTTGCAGGAATTGGTGATGCTCATACTTCTGGACCTTCAAGGAATAGGCAGGATCCTGACTAGTCTTTATCTATATTCTGTGTCTTTTGTGCCCACATCCCATTATTAATGACCAACCTCCAAGTCTGGGCCTACATCTGGATACCACCTAATGATCACATGCCAGGTGCAGACCAGGGCCACATGCTGTATCGCTATCCAGGTCCAATGCTGTCCTGGGGCTTCCCACATCTCCATGGCCCCGTGGCCCCAGCCAGATGCCTAGCCCTGCAGTGTACTGCATGAGAAAGGCCAGGTGCAGGAATTAAGCAGGGGATGCAGACCAGTGGTGCTAAGGACAGGTACCAAGAAGCAGAGCCATAGCCACACCAGCCGTGCACCAAATTTGAAGCTGCAAGTACCCAGCCCACCATAAAGGTGCCCATGGTGAGCAAAGCCATGCAGAG
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CATACCTCACCTCACCCTCAGGGACTCAGGGCCATGCCCATCCCTACCTTGAACTTCTTCTCCAGATCAGCCTCCAACTTGGGGCCCAGAAGGTGGAGGACCTGAGCAGAGACCAGAATCAGGCAGAGGCAGGAGTATCCTCTTTCAAGGAGCCCCTGACTGATCCTACCCACCAACCCAAGGCTTCCTGGCCTATCTACCAGCACTGACTGAAAAAACCTACCTAGCCCATCCCATCTCTTCTCATGTGGGTCTGCTAGCTTAAAATGCTCTTGCTCTTGTTGCCCAGACTGGAGTCTTGCTCATGTTGCCCAGGCTGGAATGCAATGGCACAGTCTCCGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTTTCCTACCTCAGCCCTTCTGAGTACCTGGGACTGCATGTGCCCGCCACCACACCCAGCTAATTTTTGTACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAATAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCCTCCCACCTTTTTTTATTGTTGTTGATTTTGAGACAGGGTCTCATTCTGTACTCCAGGATGGAGTGCAGTGGTGCAATCAGAGCTTACTGCAGCCTTGATCTCTTAGATTCAAGCAATCTTCCCACCACAGCCCCACAAATTGCTGGGACTACAGGTATACACCACCATGTCTGGCTAATTTTTAAATTTTCTGTAGAGAGGAGTTCTCAATATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATCAGAAGCGTGAGCCACCATGCCCAGCCCTCTTCCTGCCTTTTATCCCTTAGTGGATTCCAGGCTCTGTTCATGCCAGAGTCTTTGCCAGCTTCAGCTTAGTGAAGCACGCTCACCTGCATGTCCACTTCATTCTTGATCATTTTGCCATCTGCCCACTTCAGCACAGCCCGAGCCTCTCCTAGAAGCATAGGCACAAGGAGCTGCAGAAAGGCAAAAAAGAGTACTCCCCCCACCTCTTTCCCAAGGAAAGGTCCTGGCTGACCACCAGAACCAGAGCCTGAGCCCAGCCAGACCACTTTAAGTCACTCCTGTTCCTTCCCCCACCTCCTTCTCACTCGTGCCCAGAAGAAAAGGCATGACCAGAGAGAACAATATAGCCCCGTTCCAGGCCCTGCTCACCCATCAGCAGCCCCATGTTGAAATGGTAACGTTCCACCAGGAGCTGGGGCCGGTGCCTGTTAATAGCAGCCTCCACCTGCAGAAAGCCAAACCATGTGGTTCAGGAAAGCCACCTTTAGAGATATTCTGGGAACCCACACCCTCACTCTGGGTCTTCCTGAGGAGGGAAACTGAGCCACTCCTTTCCATGGCCAGGACTGGGGAGGCAGACGATGCCTGGGGAAAGACTCACAGCCTCCTCAATCTGCTCTGGGGTCACAATGACACCCACGCCACATTCCCGCTCGAAGTCCACAGTGTCGATGGGGTCCAAGGGGTGACTCCGCACATACTCAAGGGCAGCTGAGAAGAAAGAGCCCGTGAGTTTGTGGCATCTCTGCTCCAAGAAGTGGACAGACAGGGTCCTAATCTCATGAAACTCCAAGGATAGTCTGGCCTCCTGAAAAGTTAAGCCCTGGCACCACCACCCTAGAGAACACAGGGAAGAAAGAAGCACGTGTCGAGAGTGGATCCCCCCTCAGACCCTGACAGTTCCCGTGTCAGTCTCACCATAGGCCACCCCTTCCATGCCTCAGTGCCTGTGCAGAACTAGGTGTCTAGAAAGAAACTGGAGGACTTGGCAAAAAGGGAAGACAGGGGTCTTGGCTGAAGGGAGGCATTGGTGCGAACTGGCAGGACAGGTAGGGGTCTCACCGCTTAGCTGGGGCTCAGTGTGGATCTTCTTACTGGCTATGTAGCTTACAAGGAAGGAGAGACGCCGGGTATCCCTGAGTCGGGAGGCCAAGCCATGTAACAGGATCCCGGTAGCTTTGTCAATGGTGGAACCCAGGGTCTGCTGAGCCTGAGGTCAGAGGGGTCAAGAGAGAAGCCCCGCGCTCAGTGAGAGGAAAGGGCGGGACAAACGGGGCAGGTCGGGATCTGGACCCCGCCCCGCGCTGCGTTGCAGCATGGTCTGCAAACCAGGCCGGGGGCAGAGGGGCTCGCACCTGAGTAGCGGCCTCGCGCAGCTGCGCGCTCAGAGCCGAGTTCTTGAGCGTCTCGCGGGCCTTCTGCTCGCTCAGGCCGAGGCTAGTGAAGAGCGACAGGGAGTCTAGAGCCGCCATTGCAGAGACACCGGAAACTAAAAGAAACTTAGGCCCCAGTCTGCAGGTCGGCATTCACTCGCTGACCAATGAGAGTGAAGCCTCCGGGGAGAGCCAATGGGGTCCTTCCTTGGCGGGAGGGGGCGGGGCGCTCCAAGGTCGTCTATCCCCTTTAAACAACACAGGGCGGACAAACCGGCCTTTCCGGGGGCTTTGCTTCCGCCTCCGTGGAACTGGGAACTTGAAGGGGTGTTGGCAGGCGGCAGGGCTTTTGGAGATATTTGCCACGGACCTGGAAGGAAGGTGTTCGTCCCTGAGGCAGGAGGAAGACACAGGCGTGGTTTTGCTCTGACTTTTCTACTTCAGCCCTGGTAACTCCATCTCAATATAGTAATTGTCCTCGGGGGCAAATGCGAGTCCCTGTCACGCTTTTGACGCCACAGCTTTGGAGTTGTCATGGAAACAGTTGAACAAATGAAGCCCAGGAAATCCCTCATCCAGACTCCATCGTAGAGAATGTGTGGAATGACCGATCCAGGGGCCCCATAAGTCCGCCGGTTTTCAGGTGCCCACTTGGACACAGCTGGCCAGGAAAGGGAAGGGACGGGTCTGGGCCAGGAGGGACCTCACATAAGTTCTATGATGATTTGGTTTAAAATCTTGGCCGGGCGCAGTGGCTCAGGCCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCGAGATCAGCCTCGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGATGGCGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGTCAACAGAGTAAGACTGTCTCAAAAAAAAAAAAAGAAAAGAAAAAAAAATCTCATCCCACACTTACCCTCTTGCCAAAGCATTATCAGGAAAACCACAAGCAAATTAGACCTTGAAATCCCTCTGCAGGCCTTTGAGAGGATATTTTATTGAGCTTGTGAGAGGGTGGGACAAATGAGATGGTTATAGCTTCATGATTATAGCTGTTGTGCTTGGGGATCTTTCCACAGTCTCACTGGACTTCCAGGACCTGCTGGCTGAAACAGAACAGAGACTTTGTGTGTGTGTGAGAAAAGGGACTAAGGTAGTAAGGGACTGAGGTAGGGGGTTGCAGAGAATGAGCAGCTGGTGGTGGGATGGTGGAAATCCCCACATTTGAGATTGGAGCTCTTGCAGGAATTGGTGATGCTCATACTTCTGGACCTTCAAGGAATAGGCAGGATCCTGACTAGTCTTTATCTATATTCTGTGTCTTTTGTGCCCACATCCCATTATTAATGACCAACCTCCAAGTCTGGGCCTACATCTGGATACCACCTAATGATCACATGCCAGGTGCAGACCAGGGCCACATGCTGTATCGCTATCCAGGTCCAATGCTGTCCTGGGGCTTCCCACATCTCCATGGCCCCGTGGCCCCAGCCAGATGCCTAGCCCTGCAGTGTACTGCATGAGAAAGGCCAGGTGCAGGAATTAAGCAGGGGATGCAGACCAGTGGTGCTAAGGACAGGTACCAAGAAGCAGAGCCATAGCCACACCAGCCGTGCACCAAATTTGAAGCTGCAAGTACCCAGCCCACCATAAAGGTGCCCATGGTGAGCAAAGCCATGCAGAG
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Task1_train_6998
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This alteration in QARS1 (glutaminyl-tRNA synthetase 1) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
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CCAGGCTGGAATGCAATGGCACAGTCTCCGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTTTCCTACCTCAGCCCTTCTGAGTACCTGGGACTGCATGTGCCCGCCACCACACCCAGCTAATTTTTGTACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAATAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCCTCCCACCTTTTTTTATTGTTGTTGATTTTGAGACAGGGTCTCATTCTGTACTCCAGGATGGAGTGCAGTGGTGCAATCAGAGCTTACTGCAGCCTTGATCTCTTAGATTCAAGCAATCTTCCCACCACAGCCCCACAAATTGCTGGGACTACAGGTATACACCACCATGTCTGGCTAATTTTTAAATTTTCTGTAGAGAGGAGTTCTCAATATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATCAGAAGCGTGAGCCACCATGCCCAGCCCTCTTCCTGCCTTTTATCCCTTAGTGGATTCCAGGCTCTGTTCATGCCAGAGTCTTTGCCAGCTTCAGCTTAGTGAAGCACGCTCACCTGCATGTCCACTTCATTCTTGATCATTTTGCCATCTGCCCACTTCAGCACAGCCCGAGCCTCTCCTAGAAGCATAGGCACAAGGAGCTGCAGAAAGGCAAAAAAGAGTACTCCCCCCACCTCTTTCCCAAGGAAAGGTCCTGGCTGACCACCAGAACCAGAGCCTGAGCCCAGCCAGACCACTTTAAGTCACTCCTGTTCCTTCCCCCACCTCCTTCTCACTCGTGCCCAGAAGAAAAGGCATGACCAGAGAGAACAATATAGCCCCGTTCCAGGCCCTGCTCACCCATCAGCAGCCCCATGTTGAAATGGTAACGTTCCACCAGGAGCTGGGGCCGGTGCCTGTTAATAGCAGCCTCCACCTGCAGAAAGCCAAACCATGTGGTTCAGGAAAGCCACCTTTAGAGATATTCTGGGAACCCACACCCTCACTCTGGGTCTTCCTGAGGAGGGAAACTGAGCCACTCCTTTCCATGGCCAGGACTGGGGAGGCAGACGATGCCTGGGGAAAGACTCACAGCCTCCTCAATCTGCTCTGGGGTCACAATGACACCCACGCCACATTCCCGCTCGAAGTCCACAGTGTCGATGGGGTCCAAGGGGTGACTCCGCACATACTCAAGGGCAGCTGAGAAGAAAGAGCCCGTGAGTTTGTGGCATCTCTGCTCCAAGAAGTGGACAGACAGGGTCCTAATCTCATGAAACTCCAAGGATAGTCTGGCCTCCTGAAAAGTTAAGCCCTGGCACCACCACCCTAGAGAACACAGGGAAGAAAGAAGCACGTGTCGAGAGTGGATCCCCCCTCAGACCCTGACAGTTCCCGTGTCAGTCTCACCATAGGCCACCCCTTCCATGCCTCAGTGCCTGTGCAGAACTAGGTGTCTAGAAAGAAACTGGAGGACTTGGCAAAAAGGGAAGACAGGGGTCTTGGCTGAAGGGAGGCATTGGTGCGAACTGGCAGGACAGGTAGGGGTCTCACCGCTTAGCTGGGGCTCAGTGTGGATCTTCTTACTGGCTATGTAGCTTACAAGGAAGGAGAGACGCCGGGTATCCCTGAGTCGGGAGGCCAAGCCATATAACAGGATCCCGGTAGCTTTGTCAATGGTGGAACCCAGGGTCTGCTGAGCCTGAGGTCAGAGGGGTCAAGAGAGAAGCCCCGCGCTCAGTGAGAGGAAAGGGCGGGACAAACGGGGCAGGTCGGGATCTGGACCCCGCCCCGCGCTGCGTTGCAGCATGGTCTGCAAACCAGGCCGGGGGCAGAGGGGCTCGCACCTGAGTAGCGGCCTCGCGCAGCTGCGCGCTCAGAGCCGAGTTCTTGAGCGTCTCGCGGGCCTTCTGCTCGCTCAGGCCGAGGCTAGTGAAGAGCGACAGGGAGTCTAGAGCCGCCATTGCAGAGACACCGGAAACTAAAAGAAACTTAGGCCCCAGTCTGCAGGTCGGCATTCACTCGCTGACCAATGAGAGTGAAGCCTCCGGGGAGAGCCAATGGGGTCCTTCCTTGGCGGGAGGGGGCGGGGCGCTCCAAGGTCGTCTATCCCCTTTAAACAACACAGGGCGGACAAACCGGCCTTTCCGGGGGCTTTGCTTCCGCCTCCGTGGAACTGGGAACTTGAAGGGGTGTTGGCAGGCGGCAGGGCTTTTGGAGATATTTGCCACGGACCTGGAAGGAAGGTGTTCGTCCCTGAGGCAGGAGGAAGACACAGGCGTGGTTTTGCTCTGACTTTTCTACTTCAGCCCTGGTAACTCCATCTCAATATAGTAATTGTCCTCGGGGGCAAATGCGAGTCCCTGTCACGCTTTTGACGCCACAGCTTTGGAGTTGTCATGGAAACAGTTGAACAAATGAAGCCCAGGAAATCCCTCATCCAGACTCCATCGTAGAGAATGTGTGGAATGACCGATCCAGGGGCCCCATAAGTCCGCCGGTTTTCAGGTGCCCACTTGGACACAGCTGGCCAGGAAAGGGAAGGGACGGGTCTGGGCCAGGAGGGACCTCACATAAGTTCTATGATGATTTGGTTTAAAATCTTGGCCGGGCGCAGTGGCTCAGGCCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCGAGATCAGCCTCGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGATGGCGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGTCAACAGAGTAAGACTGTCTCAAAAAAAAAAAAAGAAAAGAAAAAAAAATCTCATCCCACACTTACCCTCTTGCCAAAGCATTATCAGGAAAACCACAAGCAAATTAGACCTTGAAATCCCTCTGCAGGCCTTTGAGAGGATATTTTATTGAGCTTGTGAGAGGGTGGGACAAATGAGATGGTTATAGCTTCATGATTATAGCTGTTGTGCTTGGGGATCTTTCCACAGTCTCACTGGACTTCCAGGACCTGCTGGCTGAAACAGAACAGAGACTTTGTGTGTGTGTGAGAAAAGGGACTAAGGTAGTAAGGGACTGAGGTAGGGGGTTGCAGAGAATGAGCAGCTGGTGGTGGGATGGTGGAAATCCCCACATTTGAGATTGGAGCTCTTGCAGGAATTGGTGATGCTCATACTTCTGGACCTTCAAGGAATAGGCAGGATCCTGACTAGTCTTTATCTATATTCTGTGTCTTTTGTGCCCACATCCCATTATTAATGACCAACCTCCAAGTCTGGGCCTACATCTGGATACCACCTAATGATCACATGCCAGGTGCAGACCAGGGCCACATGCTGTATCGCTATCCAGGTCCAATGCTGTCCTGGGGCTTCCCACATCTCCATGGCCCCGTGGCCCCAGCCAGATGCCTAGCCCTGCAGTGTACTGCATGAGAAAGGCCAGGTGCAGGAATTAAGCAGGGGATGCAGACCAGTGGTGCTAAGGACAGGTACCAAGAAGCAGAGCCATAGCCACACCAGCCGTGCACCAAATTTGAAGCTGCAAGTACCCAGCCCACCATAAAGGTGCCCATGGTGAGCAAAGCCATGCAGAGTGCCTGCCACTGCCACTATTTCCTCAGTACCTGATGCTGCCAATAGATTCACTGTAGCACCATCACCAAGTCCTACAGGTCTAGTGATGGCTCCCTCAATGAGATCAAGATCTGCACTCCCTTCCCTGGTTACTTCATGGTACACTGTGGACGCCATGGCTACAAGTCATAGAATGAGGCAGTAGCCCCACCAGTGTCACCAAGAATGCCACAAGTGGTAGCATACCAGTCGATATCCAGCTAGTGCCCTAGATGTCTACGACTTGCACAAAGCAGAAATGTTAAATTGTATGGGCCCAGTCTGGAGGTTA
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CCAGGCTGGAATGCAATGGCACAGTCTCCGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTTTCCTACCTCAGCCCTTCTGAGTACCTGGGACTGCATGTGCCCGCCACCACACCCAGCTAATTTTTGTACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAATAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCCTCCCACCTTTTTTTATTGTTGTTGATTTTGAGACAGGGTCTCATTCTGTACTCCAGGATGGAGTGCAGTGGTGCAATCAGAGCTTACTGCAGCCTTGATCTCTTAGATTCAAGCAATCTTCCCACCACAGCCCCACAAATTGCTGGGACTACAGGTATACACCACCATGTCTGGCTAATTTTTAAATTTTCTGTAGAGAGGAGTTCTCAATATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATCAGAAGCGTGAGCCACCATGCCCAGCCCTCTTCCTGCCTTTTATCCCTTAGTGGATTCCAGGCTCTGTTCATGCCAGAGTCTTTGCCAGCTTCAGCTTAGTGAAGCACGCTCACCTGCATGTCCACTTCATTCTTGATCATTTTGCCATCTGCCCACTTCAGCACAGCCCGAGCCTCTCCTAGAAGCATAGGCACAAGGAGCTGCAGAAAGGCAAAAAAGAGTACTCCCCCCACCTCTTTCCCAAGGAAAGGTCCTGGCTGACCACCAGAACCAGAGCCTGAGCCCAGCCAGACCACTTTAAGTCACTCCTGTTCCTTCCCCCACCTCCTTCTCACTCGTGCCCAGAAGAAAAGGCATGACCAGAGAGAACAATATAGCCCCGTTCCAGGCCCTGCTCACCCATCAGCAGCCCCATGTTGAAATGGTAACGTTCCACCAGGAGCTGGGGCCGGTGCCTGTTAATAGCAGCCTCCACCTGCAGAAAGCCAAACCATGTGGTTCAGGAAAGCCACCTTTAGAGATATTCTGGGAACCCACACCCTCACTCTGGGTCTTCCTGAGGAGGGAAACTGAGCCACTCCTTTCCATGGCCAGGACTGGGGAGGCAGACGATGCCTGGGGAAAGACTCACAGCCTCCTCAATCTGCTCTGGGGTCACAATGACACCCACGCCACATTCCCGCTCGAAGTCCACAGTGTCGATGGGGTCCAAGGGGTGACTCCGCACATACTCAAGGGCAGCTGAGAAGAAAGAGCCCGTGAGTTTGTGGCATCTCTGCTCCAAGAAGTGGACAGACAGGGTCCTAATCTCATGAAACTCCAAGGATAGTCTGGCCTCCTGAAAAGTTAAGCCCTGGCACCACCACCCTAGAGAACACAGGGAAGAAAGAAGCACGTGTCGAGAGTGGATCCCCCCTCAGACCCTGACAGTTCCCGTGTCAGTCTCACCATAGGCCACCCCTTCCATGCCTCAGTGCCTGTGCAGAACTAGGTGTCTAGAAAGAAACTGGAGGACTTGGCAAAAAGGGAAGACAGGGGTCTTGGCTGAAGGGAGGCATTGGTGCGAACTGGCAGGACAGGTAGGGGTCTCACCGCTTAGCTGGGGCTCAGTGTGGATCTTCTTACTGGCTATGTAGCTTACAAGGAAGGAGAGACGCCGGGTATCCCTGAGTCGGGAGGCCAAGCCATATAACAGGATCCCGGTAGCTTTGTCAATGGTGGAACCCAGGGTCTGCTGAGCCTGAGGTCAGAGGGGTCAAGAGAGAAGCCCCGCGCTCAGTGAGAGGAAAGGGCGGGACAAACGGGGCAGGTCGGGATCTGGACCCCGCCCCGCGCTGCGTTGCAGCATGGTCTGCAAACCAGGCCGGGGGCAGAGGGGCTCGCACCTGAGTAGCGGCCTCGCGCAGCTGCGCGCTCAGAGCCGAGTTCTTGAGCGTCTCGCGGGCCTTCTGCTCGCTCAGGCCGAGGCTAGTGAAGAGCGACAGGGAGTCTAGAGCCGCTATTGCAGAGACACCGGAAACTAAAAGAAACTTAGGCCCCAGTCTGCAGGTCGGCATTCACTCGCTGACCAATGAGAGTGAAGCCTCCGGGGAGAGCCAATGGGGTCCTTCCTTGGCGGGAGGGGGCGGGGCGCTCCAAGGTCGTCTATCCCCTTTAAACAACACAGGGCGGACAAACCGGCCTTTCCGGGGGCTTTGCTTCCGCCTCCGTGGAACTGGGAACTTGAAGGGGTGTTGGCAGGCGGCAGGGCTTTTGGAGATATTTGCCACGGACCTGGAAGGAAGGTGTTCGTCCCTGAGGCAGGAGGAAGACACAGGCGTGGTTTTGCTCTGACTTTTCTACTTCAGCCCTGGTAACTCCATCTCAATATAGTAATTGTCCTCGGGGGCAAATGCGAGTCCCTGTCACGCTTTTGACGCCACAGCTTTGGAGTTGTCATGGAAACAGTTGAACAAATGAAGCCCAGGAAATCCCTCATCCAGACTCCATCGTAGAGAATGTGTGGAATGACCGATCCAGGGGCCCCATAAGTCCGCCGGTTTTCAGGTGCCCACTTGGACACAGCTGGCCAGGAAAGGGAAGGGACGGGTCTGGGCCAGGAGGGACCTCACATAAGTTCTATGATGATTTGGTTTAAAATCTTGGCCGGGCGCAGTGGCTCAGGCCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCGAGATCAGCCTCGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGATGGCGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGTCAACAGAGTAAGACTGTCTCAAAAAAAAAAAAAGAAAAGAAAAAAAAATCTCATCCCACACTTACCCTCTTGCCAAAGCATTATCAGGAAAACCACAAGCAAATTAGACCTTGAAATCCCTCTGCAGGCCTTTGAGAGGATATTTTATTGAGCTTGTGAGAGGGTGGGACAAATGAGATGGTTATAGCTTCATGATTATAGCTGTTGTGCTTGGGGATCTTTCCACAGTCTCACTGGACTTCCAGGACCTGCTGGCTGAAACAGAACAGAGACTTTGTGTGTGTGTGAGAAAAGGGACTAAGGTAGTAAGGGACTGAGGTAGGGGGTTGCAGAGAATGAGCAGCTGGTGGTGGGATGGTGGAAATCCCCACATTTGAGATTGGAGCTCTTGCAGGAATTGGTGATGCTCATACTTCTGGACCTTCAAGGAATAGGCAGGATCCTGACTAGTCTTTATCTATATTCTGTGTCTTTTGTGCCCACATCCCATTATTAATGACCAACCTCCAAGTCTGGGCCTACATCTGGATACCACCTAATGATCACATGCCAGGTGCAGACCAGGGCCACATGCTGTATCGCTATCCAGGTCCAATGCTGTCCTGGGGCTTCCCACATCTCCATGGCCCCGTGGCCCCAGCCAGATGCCTAGCCCTGCAGTGTACTGCATGAGAAAGGCCAGGTGCAGGAATTAAGCAGGGGATGCAGACCAGTGGTGCTAAGGACAGGTACCAAGAAGCAGAGCCATAGCCACACCAGCCGTGCACCAAATTTGAAGCTGCAAGTACCCAGCCCACCATAAAGGTGCCCATGGTGAGCAAAGCCATGCAGAGTGCCTGCCACTGCCACTATTTCCTCAGTACCTGATGCTGCCAATAGATTCACTGTAGCACCATCACCAAGTCCTACAGGTCTAGTGATGGCTCCCTCAATGAGATCAAGATCTGCACTCCCTTCCCTGGTTACTTCATGGTACACTGTGGACGCCATGGCTACAAGTCATAGAATGAGGCAGTAGCCCCACCAGTGTCACCAAGAATGCCACAAGTGGTAGCATACCAGTCGATATCCAGCTAGTGCCCTAGATGTCTACGACTTGCACAAAGCAGAAATGTTAAATTGTATGGGCCCAGTCTGGAGGTTA
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Task1_train_6999
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A variant on Chromosome 3 in gene QARS1 (glutaminyl-tRNA synthetase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
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CAGGCTGGAATGCAATGGCACAGTCTCCGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTTTCCTACCTCAGCCCTTCTGAGTACCTGGGACTGCATGTGCCCGCCACCACACCCAGCTAATTTTTGTACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAATAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCCTCCCACCTTTTTTTATTGTTGTTGATTTTGAGACAGGGTCTCATTCTGTACTCCAGGATGGAGTGCAGTGGTGCAATCAGAGCTTACTGCAGCCTTGATCTCTTAGATTCAAGCAATCTTCCCACCACAGCCCCACAAATTGCTGGGACTACAGGTATACACCACCATGTCTGGCTAATTTTTAAATTTTCTGTAGAGAGGAGTTCTCAATATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATCAGAAGCGTGAGCCACCATGCCCAGCCCTCTTCCTGCCTTTTATCCCTTAGTGGATTCCAGGCTCTGTTCATGCCAGAGTCTTTGCCAGCTTCAGCTTAGTGAAGCACGCTCACCTGCATGTCCACTTCATTCTTGATCATTTTGCCATCTGCCCACTTCAGCACAGCCCGAGCCTCTCCTAGAAGCATAGGCACAAGGAGCTGCAGAAAGGCAAAAAAGAGTACTCCCCCCACCTCTTTCCCAAGGAAAGGTCCTGGCTGACCACCAGAACCAGAGCCTGAGCCCAGCCAGACCACTTTAAGTCACTCCTGTTCCTTCCCCCACCTCCTTCTCACTCGTGCCCAGAAGAAAAGGCATGACCAGAGAGAACAATATAGCCCCGTTCCAGGCCCTGCTCACCCATCAGCAGCCCCATGTTGAAATGGTAACGTTCCACCAGGAGCTGGGGCCGGTGCCTGTTAATAGCAGCCTCCACCTGCAGAAAGCCAAACCATGTGGTTCAGGAAAGCCACCTTTAGAGATATTCTGGGAACCCACACCCTCACTCTGGGTCTTCCTGAGGAGGGAAACTGAGCCACTCCTTTCCATGGCCAGGACTGGGGAGGCAGACGATGCCTGGGGAAAGACTCACAGCCTCCTCAATCTGCTCTGGGGTCACAATGACACCCACGCCACATTCCCGCTCGAAGTCCACAGTGTCGATGGGGTCCAAGGGGTGACTCCGCACATACTCAAGGGCAGCTGAGAAGAAAGAGCCCGTGAGTTTGTGGCATCTCTGCTCCAAGAAGTGGACAGACAGGGTCCTAATCTCATGAAACTCCAAGGATAGTCTGGCCTCCTGAAAAGTTAAGCCCTGGCACCACCACCCTAGAGAACACAGGGAAGAAAGAAGCACGTGTCGAGAGTGGATCCCCCCTCAGACCCTGACAGTTCCCGTGTCAGTCTCACCATAGGCCACCCCTTCCATGCCTCAGTGCCTGTGCAGAACTAGGTGTCTAGAAAGAAACTGGAGGACTTGGCAAAAAGGGAAGACAGGGGTCTTGGCTGAAGGGAGGCATTGGTGCGAACTGGCAGGACAGGTAGGGGTCTCACCGCTTAGCTGGGGCTCAGTGTGGATCTTCTTACTGGCTATGTAGCTTACAAGGAAGGAGAGACGCCGGGTATCCCTGAGTCGGGAGGCCAAGCCATATAACAGGATCCCGGTAGCTTTGTCAATGGTGGAACCCAGGGTCTGCTGAGCCTGAGGTCAGAGGGGTCAAGAGAGAAGCCCCGCGCTCAGTGAGAGGAAAGGGCGGGACAAACGGGGCAGGTCGGGATCTGGACCCCGCCCCGCGCTGCGTTGCAGCATGGTCTGCAAACCAGGCCGGGGGCAGAGGGGCTCGCACCTGAGTAGCGGCCTCGCGCAGCTGCGCGCTCAGAGCCGAGTTCTTGAGCGTCTCGCGGGCCTTCTGCTCGCTCAGGCCGAGGCTAGTGAAGAGCGACAGGGAGTCTAGAGCCGCCATTGCAGAGACACCGGAAACTAAAAGAAACTTAGGCCCCAGTCTGCAGGTCGGCATTCACTCGCTGACCAATGAGAGTGAAGCCTCCGGGGAGAGCCAATGGGGTCCTTCCTTGGCGGGAGGGGGCGGGGCGCTCCAAGGTCGTCTATCCCCTTTAAACAACACAGGGCGGACAAACCGGCCTTTCCGGGGGCTTTGCTTCCGCCTCCGTGGAACTGGGAACTTGAAGGGGTGTTGGCAGGCGGCAGGGCTTTTGGAGATATTTGCCACGGACCTGGAAGGAAGGTGTTCGTCCCTGAGGCAGGAGGAAGACACAGGCGTGGTTTTGCTCTGACTTTTCTACTTCAGCCCTGGTAACTCCATCTCAATATAGTAATTGTCCTCGGGGGCAAATGCGAGTCCCTGTCACGCTTTTGACGCCACAGCTTTGGAGTTGTCATGGAAACAGTTGAACAAATGAAGCCCAGGAAATCCCTCATCCAGACTCCATCGTAGAGAATGTGTGGAATGACCGATCCAGGGGCCCCATAAGTCCGCCGGTTTTCAGGTGCCCACTTGGACACAGCTGGCCAGGAAAGGGAAGGGACGGGTCTGGGCCAGGAGGGACCTCACATAAGTTCTATGATGATTTGGTTTAAAATCTTGGCCGGGCGCAGTGGCTCAGGCCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCGAGATCAGCCTCGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGATGGCGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGTCAACAGAGTAAGACTGTCTCAAAAAAAAAAAAAGAAAAGAAAAAAAAATCTCATCCCACACTTACCCTCTTGCCAAAGCATTATCAGGAAAACCACAAGCAAATTAGACCTTGAAATCCCTCTGCAGGCCTTTGAGAGGATATTTTATTGAGCTTGTGAGAGGGTGGGACAAATGAGATGGTTATAGCTTCATGATTATAGCTGTTGTGCTTGGGGATCTTTCCACAGTCTCACTGGACTTCCAGGACCTGCTGGCTGAAACAGAACAGAGACTTTGTGTGTGTGTGAGAAAAGGGACTAAGGTAGTAAGGGACTGAGGTAGGGGGTTGCAGAGAATGAGCAGCTGGTGGTGGGATGGTGGAAATCCCCACATTTGAGATTGGAGCTCTTGCAGGAATTGGTGATGCTCATACTTCTGGACCTTCAAGGAATAGGCAGGATCCTGACTAGTCTTTATCTATATTCTGTGTCTTTTGTGCCCACATCCCATTATTAATGACCAACCTCCAAGTCTGGGCCTACATCTGGATACCACCTAATGATCACATGCCAGGTGCAGACCAGGGCCACATGCTGTATCGCTATCCAGGTCCAATGCTGTCCTGGGGCTTCCCACATCTCCATGGCCCCGTGGCCCCAGCCAGATGCCTAGCCCTGCAGTGTACTGCATGAGAAAGGCCAGGTGCAGGAATTAAGCAGGGGATGCAGACCAGTGGTGCTAAGGACAGGTACCAAGAAGCAGAGCCATAGCCACACCAGCCGTGCACCAAATTTGAAGCTGCAAGTACCCAGCCCACCATAAAGGTGCCCATGGTGAGCAAAGCCATGCAGAGTGCCTGCCACTGCCACTATTTCCTCAGTACCTGATGCTGCCAATAGATTCACTGTAGCACCATCACCAAGTCCTACAGGTCTAGTGATGGCTCCCTCAATGAGATCAAGATCTGCACTCCCTTCCCTGGTTACTTCATGGTACACTGTGGACGCCATGGCTACAAGTCATAGAATGAGGCAGTAGCCCCACCAGTGTCACCAAGAATGCCACAAGTGGTAGCATACCAGTCGATATCCAGCTAGTGCCCTAGATGTCTACGACTTGCACAAAGCAGAAATGTTAAATTGTATGGGCCCAGTCTGGAGGTTAG
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CAGGCTGGAATGCAATGGCACAGTCTCCGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTTTCCTACCTCAGCCCTTCTGAGTACCTGGGACTGCATGTGCCCGCCACCACACCCAGCTAATTTTTGTACTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAATAGTGTTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCCTCCCACCTTTTTTTATTGTTGTTGATTTTGAGACAGGGTCTCATTCTGTACTCCAGGATGGAGTGCAGTGGTGCAATCAGAGCTTACTGCAGCCTTGATCTCTTAGATTCAAGCAATCTTCCCACCACAGCCCCACAAATTGCTGGGACTACAGGTATACACCACCATGTCTGGCTAATTTTTAAATTTTCTGTAGAGAGGAGTTCTCAATATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGTAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATCAGAAGCGTGAGCCACCATGCCCAGCCCTCTTCCTGCCTTTTATCCCTTAGTGGATTCCAGGCTCTGTTCATGCCAGAGTCTTTGCCAGCTTCAGCTTAGTGAAGCACGCTCACCTGCATGTCCACTTCATTCTTGATCATTTTGCCATCTGCCCACTTCAGCACAGCCCGAGCCTCTCCTAGAAGCATAGGCACAAGGAGCTGCAGAAAGGCAAAAAAGAGTACTCCCCCCACCTCTTTCCCAAGGAAAGGTCCTGGCTGACCACCAGAACCAGAGCCTGAGCCCAGCCAGACCACTTTAAGTCACTCCTGTTCCTTCCCCCACCTCCTTCTCACTCGTGCCCAGAAGAAAAGGCATGACCAGAGAGAACAATATAGCCCCGTTCCAGGCCCTGCTCACCCATCAGCAGCCCCATGTTGAAATGGTAACGTTCCACCAGGAGCTGGGGCCGGTGCCTGTTAATAGCAGCCTCCACCTGCAGAAAGCCAAACCATGTGGTTCAGGAAAGCCACCTTTAGAGATATTCTGGGAACCCACACCCTCACTCTGGGTCTTCCTGAGGAGGGAAACTGAGCCACTCCTTTCCATGGCCAGGACTGGGGAGGCAGACGATGCCTGGGGAAAGACTCACAGCCTCCTCAATCTGCTCTGGGGTCACAATGACACCCACGCCACATTCCCGCTCGAAGTCCACAGTGTCGATGGGGTCCAAGGGGTGACTCCGCACATACTCAAGGGCAGCTGAGAAGAAAGAGCCCGTGAGTTTGTGGCATCTCTGCTCCAAGAAGTGGACAGACAGGGTCCTAATCTCATGAAACTCCAAGGATAGTCTGGCCTCCTGAAAAGTTAAGCCCTGGCACCACCACCCTAGAGAACACAGGGAAGAAAGAAGCACGTGTCGAGAGTGGATCCCCCCTCAGACCCTGACAGTTCCCGTGTCAGTCTCACCATAGGCCACCCCTTCCATGCCTCAGTGCCTGTGCAGAACTAGGTGTCTAGAAAGAAACTGGAGGACTTGGCAAAAAGGGAAGACAGGGGTCTTGGCTGAAGGGAGGCATTGGTGCGAACTGGCAGGACAGGTAGGGGTCTCACCGCTTAGCTGGGGCTCAGTGTGGATCTTCTTACTGGCTATGTAGCTTACAAGGAAGGAGAGACGCCGGGTATCCCTGAGTCGGGAGGCCAAGCCATATAACAGGATCCCGGTAGCTTTGTCAATGGTGGAACCCAGGGTCTGCTGAGCCTGAGGTCAGAGGGGTCAAGAGAGAAGCCCCGCGCTCAGTGAGAGGAAAGGGCGGGACAAACGGGGCAGGTCGGGATCTGGACCCCGCCCCGCGCTGCGTTGCAGCATGGTCTGCAAACCAGGCCGGGGGCAGAGGGGCTCGCACCTGAGTAGCGGCCTCGCGCAGCTGCGCGCTCAGAGCCGAGTTCTTGAGCGTCTCGCGGGCCTTCTGCTCGCTCAGGCCGAGGCTAGTGAAGAGCGACAGGGAGTCTAGAGCCGCCGTTGCAGAGACACCGGAAACTAAAAGAAACTTAGGCCCCAGTCTGCAGGTCGGCATTCACTCGCTGACCAATGAGAGTGAAGCCTCCGGGGAGAGCCAATGGGGTCCTTCCTTGGCGGGAGGGGGCGGGGCGCTCCAAGGTCGTCTATCCCCTTTAAACAACACAGGGCGGACAAACCGGCCTTTCCGGGGGCTTTGCTTCCGCCTCCGTGGAACTGGGAACTTGAAGGGGTGTTGGCAGGCGGCAGGGCTTTTGGAGATATTTGCCACGGACCTGGAAGGAAGGTGTTCGTCCCTGAGGCAGGAGGAAGACACAGGCGTGGTTTTGCTCTGACTTTTCTACTTCAGCCCTGGTAACTCCATCTCAATATAGTAATTGTCCTCGGGGGCAAATGCGAGTCCCTGTCACGCTTTTGACGCCACAGCTTTGGAGTTGTCATGGAAACAGTTGAACAAATGAAGCCCAGGAAATCCCTCATCCAGACTCCATCGTAGAGAATGTGTGGAATGACCGATCCAGGGGCCCCATAAGTCCGCCGGTTTTCAGGTGCCCACTTGGACACAGCTGGCCAGGAAAGGGAAGGGACGGGTCTGGGCCAGGAGGGACCTCACATAAGTTCTATGATGATTTGGTTTAAAATCTTGGCCGGGCGCAGTGGCTCAGGCCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCGAGATCAGCCTCGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGATGGCGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGTCAACAGAGTAAGACTGTCTCAAAAAAAAAAAAAGAAAAGAAAAAAAAATCTCATCCCACACTTACCCTCTTGCCAAAGCATTATCAGGAAAACCACAAGCAAATTAGACCTTGAAATCCCTCTGCAGGCCTTTGAGAGGATATTTTATTGAGCTTGTGAGAGGGTGGGACAAATGAGATGGTTATAGCTTCATGATTATAGCTGTTGTGCTTGGGGATCTTTCCACAGTCTCACTGGACTTCCAGGACCTGCTGGCTGAAACAGAACAGAGACTTTGTGTGTGTGTGAGAAAAGGGACTAAGGTAGTAAGGGACTGAGGTAGGGGGTTGCAGAGAATGAGCAGCTGGTGGTGGGATGGTGGAAATCCCCACATTTGAGATTGGAGCTCTTGCAGGAATTGGTGATGCTCATACTTCTGGACCTTCAAGGAATAGGCAGGATCCTGACTAGTCTTTATCTATATTCTGTGTCTTTTGTGCCCACATCCCATTATTAATGACCAACCTCCAAGTCTGGGCCTACATCTGGATACCACCTAATGATCACATGCCAGGTGCAGACCAGGGCCACATGCTGTATCGCTATCCAGGTCCAATGCTGTCCTGGGGCTTCCCACATCTCCATGGCCCCGTGGCCCCAGCCAGATGCCTAGCCCTGCAGTGTACTGCATGAGAAAGGCCAGGTGCAGGAATTAAGCAGGGGATGCAGACCAGTGGTGCTAAGGACAGGTACCAAGAAGCAGAGCCATAGCCACACCAGCCGTGCACCAAATTTGAAGCTGCAAGTACCCAGCCCACCATAAAGGTGCCCATGGTGAGCAAAGCCATGCAGAGTGCCTGCCACTGCCACTATTTCCTCAGTACCTGATGCTGCCAATAGATTCACTGTAGCACCATCACCAAGTCCTACAGGTCTAGTGATGGCTCCCTCAATGAGATCAAGATCTGCACTCCCTTCCCTGGTTACTTCATGGTACACTGTGGACGCCATGGCTACAAGTCATAGAATGAGGCAGTAGCCCCACCAGTGTCACCAAGAATGCCACAAGTGGTAGCATACCAGTCGATATCCAGCTAGTGCCCTAGATGTCTACGACTTGCACAAAGCAGAAATGTTAAATTGTATGGGCCCAGTCTGGAGGTTAG
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Subsets and Splits
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