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_17300
|
Consider this mutation in LRRK2 (leucine rich repeat kinase 2) on Chromosome 12. Is this a benign change or a disease-causing variant?
|
Pathogenic; Autosomal dominant Parkinson disease 8
|
TGACATGTAAAAGAACTCACCTAAATCTCAAGTATACTTTTAAGCAGTTTATTATTTTATTTTTATCTTTCAAATACTAGGTTTCTTCAACAGCGATTAAAAAAGGCTGTGCCTTATAACCGAATGAAACTTATGATTGTGGGAAATACTGGGAGTGGTAAAACCACCTTATTGCAGCAATTAATGAAAACCAAGAAATCAGATCTTGGAATGCAAAGTGCCACAGTTGGCATAGATGTGAAAGACTGGCCTATCCAAATAAGAGACAAAAGAAAGAGAGATCTCGTCCTAAATGTGTGGGATTTTGCAGGTATTTCTTTCTATAGAATTTTAAAATTCACTTTTACCATTTGTTTGGAACAGGGATTCAAAAACTGAGCTTTCTGTTCTAATATCCAGAAACCTGGTAGACTGTATGGAATTATTCCAAAGCCCTTCATTTCTCCTAATTTTACCCTTGCCTCCAGAATGGAGAAGAACATGGAGGGATATGTTAGGAACAATTTGGTGCTAGGTACTTTGATCGGTTGCTGACAAATATGCTAAAAGTGGTCAATCCTAGTAAAAACCCAGAATAGTTCTCTAAACATGGTCTGTTGTTTTTCTCTTATTAGTATGCTAAATAATAAATAGTATTATTCTCCCAGATTTTTTTTTAAAAAAGGATTCTTGCCTGTCGTTTGAAAGATTAAAAAAATTTGTCTCTAATCTTTATTTAGGTCGTGAGGAATTCTATAGTACTCATCCCCATTTTATGACGCAGCGAGCATTGTACCTTGCTGTCTATGACCTCAGCAAGGGACAGGCTGAAGTTGATGCCATGAAGCCTTGGCTCTTCAATATAAAGGTGATTTGTTCTGATCATTTGAAAATAGAAAATAATTCATGTGTCTGTGTGCGTGTGTGTGTGTGTGTGTAAGTTAATTTATTTTGGGCAAACAATTGCTTCAGTCTCTTTAAATACTTTCTTAAAAGAAGCACTAAAATTTTGAATTGGGAAACTTTCCGAGTAATGAAGTCATAACATGAAAATTGTATGTTCCATGTTGGTGAATGTTATTGGTAACCTGAAACTCTTTTATGCTGTAAAACTTGAAAATATATATGTTCAACTGTTTTTTAATTATATTATTTCTTAAATGAAATCTAAATTTTTCTAATTTAAAATAAGCTATATTAAAGAAAAGCAATCTATATATATATATCTCATCAACTTTGTACTCAGGGGCCATTTAGTGTGAAATTCTTCAGATTGTATCCTTTAAGTGGTCCCAGATTATTATGCTGTTACATCTGGAATCTCCCTTTTGTTGCTTTTCTATCTTTTCCTTTGTTGTCTTGTTGTCAGCTATTCCTTCAAACACTATGGCTTTTTAGAATGGAGACTAAACTGCTGCTTGCATGATGCTGCAATGAACTCTTCTGTGCATAAAGTCCTTAAAAAGCTTGTGTCAGGACATTTAACCATGTAATTGGCTGCATACATGCTTGTTTTGTAATTTGGGTATTTTTTAATGTTTCTTTTATTAACTTTTTTACAGCTAGCCAACGTGAGCAAATAGTACAGTGGCAGTCATATTTGCTTGAGTGGCTTTTATTCTTTCATTGTAGACTCCAAATTGGTTGACTTTAAAACGAATTTAGAAGATTAAATTCACAGATAAGGAAGAGAAAATATAAACTATATGACGTTAATTTGATATAATTTGTGGGTTTATGAAATGCTTATTTTATTTAGGAGTGAATAACTCATCTTAAGGCATGAAGATGGGAAAGGAAAACTATACCACTACCGTTATATATGCCACCTAAAAGGGTGAAGAATTGGGTTAAGAAAGGCCAAAAATGACTTTTTAAAATGTCGTAAGGTTACATTTTTTTCTTAGGTTTAAGGAAAAAAGGACAGTTGTTCTTTTCTTCTTCTGAAGTCTGCTAGTTTCTCTTTTCCATTCAAGTGAATGTCACGGAAAGCAAATATCAACAGGAATGTGAGCAGGCCCAGTTTGAAAGCAAACACAAGAGGGTTTTGTGTCTTTCCCTCCAGGCTCGCGCTTCTTCTTCCCCTGTGATTCTCGTTGGCACACATTTGGATGTTTCTGATGAGAAGCAACGCAAAGCCTGCATGAGTAAAATCACCAAGGAACTCCTGAATAAGCGAGGGTTCCCTGCCATACGAGATTACCACTTTGTGAATGCCACCGAGGAATCTGATGCTTTGGCAAAACTTCGGAAAACCATCATAAACGAGAGCCTTAATTTCAAGGTAACATGGTAGGCTGGTAGAGAAATGTAATTTATTGATTCTCAACTGCCTAGAAATGTCAGAAATTTTGAGAAGTGAGCAACTCACTTAAAATTGTGGGTTTTCTTTCCTTGTTGCTGTTAGCATTATTAAAGTCCTTTCCATTTTAAAATTATTTATGCCAGACTTCATTTCTAATTCATAGAAATGGGAACAAAAAATAATTAGAGGAACCTGAGAGAAACTAAGAGACCGTTTCTGGGATACTGAGAAAATGTTTCTGAGAGAGAATCTGAGAAAATGTTTTTGATGCCTTTTCTGATTCAACTTCTTATAGTGGTGATTCAATCACAAGGGTAAAGGTGAATACTGAGGTCTTGGGATCATCTTTCTTCTATTATTCTTTAACTGTTATTTTTCCATTTCCTCTTTTCTTTTGGAATTCCTGTTTTATGGACATCTTGATCTTTTGTGCCACTCATTCATGAATTTTGTCACTGTGATTCCCATTCCAATTTTTTTCCCTCCGTATTGTGAGGCAGCTGTTTTATTTAGTCATGAAGACCACTAACTTGGTTTTCAGCAGTGTCTCACTAATTACTTAGTTCATACAAAATGGGCTTTTTATTTTAGGAATTATGTTTTAAATGTTTAAAGTTATCTTCTCGTAAGCCAAATTTTTATAAAATGTAAATAAATCAGTTATCAGAGAGAACACTTTTTTTTTTAAATACTTGGCAGAAAAAAGAAATCTTCACTGGGTACTACAGGGAGTGTGGTGTAAACTGTACTGAAAAATACCCTTGATAGTTCCATATGACAAACATAATGATGAATTTCACTTAGTCTGTCTTGGCTTAGCTCAATAGCACTAATGATCAAGATACTGGCTGATAAATAGAGTCCTATTTGGCCTGGGCAGTCCCAGCATAATTATGTAATAGTGTCCCACTATATTCTCAAAAGCATTCCAATTTGGATGATAAATTATATAGTCACCTTGGTTATAACTCCATGCTGGCCAGTTAGCTTAGTTCTGTTCCATTTATATAGATTATGTGTGCTTCACTCCAAAACCTAATGAGCCATTTGTAAAAGTGATGGCTTTTGCGGTGCCCAGGGAGAGAATTTGTATGTTTGTATCCTTCAACACACATTTATTACAGTTATTAAAAGGTTTTATTGATGATAGATGGTAATGTCATGTAAAAATGACATATTATTTATTTGTAGACTTTCCTATTCTCTTGTTGGACATGTAATTAGAAACTAATATGACTTAAAGAAAAACAAATACACAAAATTTATTCATCCAATTAATCTCTTAATCCAGGTGTTTTTTTTTTCTGAGACTATACCCATACTTCAATAACTTTGTTGTTACTGAGAATATTTTGAGTTTCCCTTTTTGTCATTGTTGTCAGAGAATGTATCATATCTTTAAAAAGACTTGTTGGAGGATGAGTTTGTTTTGAAAAGGCCTGAATTTAGTTGATGCAAAGTCACAGATAAGATGGTTCATTAAGCTGTATTAATACTGCTTTTGTCTAATAGATATCATTACCAATAAGTCAGACTAGTTTTTCTTTTGGCACTTATAAATCACCTTTGAAGACAACTTTTTACAAGGAAATAAAACAAATGCTTTGAGAAATACCAGTATTATTGAAAGAAAAGTATATATTGCTAATGGATGCAGCATTCTGGCATAATGGTTTGAAAACTCATTTGATTGCTTTGTAGAAGAATGACTCTTTCAGATGACCCAGGGCCTGTGAGCCTGCCAGAACTTGAAAATTCTTTCTTCCCTGAGGTGCTTCAACCTGAATTCAAAGAGCAGCTTTTAATCTATTA
|
TGACATGTAAAAGAACTCACCTAAATCTCAAGTATACTTTTAAGCAGTTTATTATTTTATTTTTATCTTTCAAATACTAGGTTTCTTCAACAGCGATTAAAAAAGGCTGTGCCTTATAACCGAATGAAACTTATGATTGTGGGAAATACTGGGAGTGGTAAAACCACCTTATTGCAGCAATTAATGAAAACCAAGAAATCAGATCTTGGAATGCAAAGTGCCACAGTTGGCATAGATGTGAAAGACTGGCCTATCCAAATAAGAGACAAAAGAAAGAGAGATCTCGTCCTAAATGTGTGGGATTTTGCAGGTATTTCTTTCTATAGAATTTTAAAATTCACTTTTACCATTTGTTTGGAACAGGGATTCAAAAACTGAGCTTTCTGTTCTAATATCCAGAAACCTGGTAGACTGTATGGAATTATTCCAAAGCCCTTCATTTCTCCTAATTTTACCCTTGCCTCCAGAATGGAGAAGAACATGGAGGGATATGTTAGGAACAATTTGGTGCTAGGTACTTTGATCGGTTGCTGACAAATATGCTAAAAGTGGTCAATCCTAGTAAAAACCCAGAATAGTTCTCTAAACATGGTCTGTTGTTTTTCTCTTATTAGTATGCTAAATAATAAATAGTATTATTCTCCCAGATTTTTTTTTAAAAAAGGATTCTTGCCTGTCGTTTGAAAGATTAAAAAAATTTGTCTCTAATCTTTATTTAGGTCGTGAGGAATTCTATAGTACTCATCCCCATTTTATGACGCAGCGAGCATTGTACCTTGCTGTCTATGACCTCAGCAAGGGACAGGCTGAAGTTGATGCCATGAAGCCTTGGCTCTTCAATATAAAGGTGATTTGTTCTGATCATTTGAAAATAGAAAATAATTCATGTGTCTGTGTGCGTGTGTGTGTGTGTGTGTAAGTTAATTTATTTTGGGCAAACAATTGCTTCAGTCTCTTTAAATACTTTCTTAAAAGAAGCACTAAAATTTTGAATTGGGAAACTTTCCGAGTAATGAAGTCATAACATGAAAATTGTATGTTCCATGTTGGTGAATGTTATTGGTAACCTGAAACTCTTTTATGCTGTAAAACTTGAAAATATATATGTTCAACTGTTTTTTAATTATATTATTTCTTAAATGAAATCTAAATTTTTCTAATTTAAAATAAGCTATATTAAAGAAAAGCAATCTATATATATATATCTCATCAACTTTGTACTCAGGGGCCATTTAGTGTGAAATTCTTCAGATTGTATCCTTTAAGTGGTCCCAGATTATTATGCTGTTACATCTGGAATCTCCCTTTTGTTGCTTTTCTATCTTTTCCTTTGTTGTCTTGTTGTCAGCTATTCCTTCAAACACTATGGCTTTTTAGAATGGAGACTAAACTGCTGCTTGCATGATGCTGCAATGAACTCTTCTGTGCATAAAGTCCTTAAAAAGCTTGTGTCAGGACATTTAACCATGTAATTGGCTGCATACATGCTTGTTTTGTAATTTGGGTATTTTTTAATGTTTCTTTTATTAACTTTTTTACAGCTAGCCAACGTGAGCAAATAGTACAGTGGCAGTCATATTTGCTTGAGTGGCTTTTATTCTTTCATTGTAGACTCCAAATTGGTTGACTTTAAAACGAATTTAGAAGATTAAATTCACAGATAAGGAAGAGAAAATATAAACTATATGACGTTAATTTGATATAATTTGTGGGTTTATGAAATGCTTATTTTATTTAGGAGTGAATAACTCATCTTAAGGCATGAAGATGGGAAAGGAAAACTATACCACTACCGTTATATATGCCACCTAAAAGGGTGAAGAATTGGGTTAAGAAAGGCCAAAAATGACTTTTTAAAATGTCGTAAGGTTACATTTTTTTCTTAGGTTTAAGGAAAAAAGGACAGTTGTTCTTTTCTTCTTCTGAAGTCTGCTAGTTTCTCTTTTCCATTCAAGTGAATGTCACGGAAAGCAAATATCAACAGGAATGTGAGCAGGCCCAGTTTGAAAGCAAACACAAGAGGGTTTTGTGTCTTTCCCTCCAGGCTCACGCTTCTTCTTCCCCTGTGATTCTCGTTGGCACACATTTGGATGTTTCTGATGAGAAGCAACGCAAAGCCTGCATGAGTAAAATCACCAAGGAACTCCTGAATAAGCGAGGGTTCCCTGCCATACGAGATTACCACTTTGTGAATGCCACCGAGGAATCTGATGCTTTGGCAAAACTTCGGAAAACCATCATAAACGAGAGCCTTAATTTCAAGGTAACATGGTAGGCTGGTAGAGAAATGTAATTTATTGATTCTCAACTGCCTAGAAATGTCAGAAATTTTGAGAAGTGAGCAACTCACTTAAAATTGTGGGTTTTCTTTCCTTGTTGCTGTTAGCATTATTAAAGTCCTTTCCATTTTAAAATTATTTATGCCAGACTTCATTTCTAATTCATAGAAATGGGAACAAAAAATAATTAGAGGAACCTGAGAGAAACTAAGAGACCGTTTCTGGGATACTGAGAAAATGTTTCTGAGAGAGAATCTGAGAAAATGTTTTTGATGCCTTTTCTGATTCAACTTCTTATAGTGGTGATTCAATCACAAGGGTAAAGGTGAATACTGAGGTCTTGGGATCATCTTTCTTCTATTATTCTTTAACTGTTATTTTTCCATTTCCTCTTTTCTTTTGGAATTCCTGTTTTATGGACATCTTGATCTTTTGTGCCACTCATTCATGAATTTTGTCACTGTGATTCCCATTCCAATTTTTTTCCCTCCGTATTGTGAGGCAGCTGTTTTATTTAGTCATGAAGACCACTAACTTGGTTTTCAGCAGTGTCTCACTAATTACTTAGTTCATACAAAATGGGCTTTTTATTTTAGGAATTATGTTTTAAATGTTTAAAGTTATCTTCTCGTAAGCCAAATTTTTATAAAATGTAAATAAATCAGTTATCAGAGAGAACACTTTTTTTTTTAAATACTTGGCAGAAAAAAGAAATCTTCACTGGGTACTACAGGGAGTGTGGTGTAAACTGTACTGAAAAATACCCTTGATAGTTCCATATGACAAACATAATGATGAATTTCACTTAGTCTGTCTTGGCTTAGCTCAATAGCACTAATGATCAAGATACTGGCTGATAAATAGAGTCCTATTTGGCCTGGGCAGTCCCAGCATAATTATGTAATAGTGTCCCACTATATTCTCAAAAGCATTCCAATTTGGATGATAAATTATATAGTCACCTTGGTTATAACTCCATGCTGGCCAGTTAGCTTAGTTCTGTTCCATTTATATAGATTATGTGTGCTTCACTCCAAAACCTAATGAGCCATTTGTAAAAGTGATGGCTTTTGCGGTGCCCAGGGAGAGAATTTGTATGTTTGTATCCTTCAACACACATTTATTACAGTTATTAAAAGGTTTTATTGATGATAGATGGTAATGTCATGTAAAAATGACATATTATTTATTTGTAGACTTTCCTATTCTCTTGTTGGACATGTAATTAGAAACTAATATGACTTAAAGAAAAACAAATACACAAAATTTATTCATCCAATTAATCTCTTAATCCAGGTGTTTTTTTTTTCTGAGACTATACCCATACTTCAATAACTTTGTTGTTACTGAGAATATTTTGAGTTTCCCTTTTTGTCATTGTTGTCAGAGAATGTATCATATCTTTAAAAAGACTTGTTGGAGGATGAGTTTGTTTTGAAAAGGCCTGAATTTAGTTGATGCAAAGTCACAGATAAGATGGTTCATTAAGCTGTATTAATACTGCTTTTGTCTAATAGATATCATTACCAATAAGTCAGACTAGTTTTTCTTTTGGCACTTATAAATCACCTTTGAAGACAACTTTTTACAAGGAAATAAAACAAATGCTTTGAGAAATACCAGTATTATTGAAAGAAAAGTATATATTGCTAATGGATGCAGCATTCTGGCATAATGGTTTGAAAACTCATTTGATTGCTTTGTAGAAGAATGACTCTTTCAGATGACCCAGGGCCTGTGAGCCTGCCAGAACTTGAAAATTCTTTCTTCCCTGAGGTGCTTCAACCTGAATTCAAAGAGCAGCTTTTAATCTATTA
|
Task1_train_17301
|
Gene LRRK2 (leucine rich repeat kinase 2) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Autosomal dominant Parkinson disease 8
|
GTTTAAGTATTCCTTAAACATTATAGATCTCCCAAAGAAAATTAAATACAAACCTCTTTTTAAAGTGAATTTGACAAAGCAAAATAAATTGGAATATATAGATAAATATGCTAAAATTTGTCATATGTACTTTGCGTACTTTACATGTGTTATTTCATTCTCAGGGCAATCTAAGACAGTCACTTTTATTATCTCATTTTATAGAGAAGAAAGCTGTGCAGTAAAGAAATCAAATACCTTTCCCAAGGTTACAGAGCTAGTAGTAGAGCCTGGATTTGAATCTGGGTTCTGACTGATTTTTAACTGCCATGACAAGGATCAAAGCTCAAAGTGTGATCTCTGTGTTAGAAACATCGGGGTTGCTCTTTAAAAAAGCCGATTCTCAGGCCTCAACCCAGACCTACTGACCCAGACACTGCAAGTAGAATCCATCAAAATGCAGTAGTTACTTTGAGAATCATGAAACTCTGCTACACAGTCTGTCTTCCTATTCATGGAAGTCCTCTCCTAGTATATAAATGTGAAGTAATATTTCTATTTCAAACCTGTATTGATAACTGTCTGGAAGATAATTTTCCTGGGAATATATTATTGATGAGACTGCAAAACAGATGTGAGGTATTGGATTGATCTTTCCATTGTAGCTAGGGAAATACTGATGTTCATTGTTTCAGTGAAGTTCAATGATTTCCTATCCGAATTAACTCCCTTAATTTAACAATTTTTTTTTTTTTTTTGAGAGTGAATGCCCCTCTGGGCTTCTAGGCCACATGGTTGCTAGAGAAATTAGGTACTGTGTTGCACTTGAAAACACTAAAATCTTTCTGACTACTTTCACTGAGCAAAGAGACATAAAATGCTTTAAATTTGCAACATTTCAGAAAATAAATTTTAGTGATTATTTATGACTCGAATCTTTCAGATTTTGACAGTGAAAGTGGAAGGTTGTCCAAAACACCCTAAGGGCATTATTTCGCGTAGAGATGTGGAAAAATTTCTTTCAAAAAAAAGGAAATTTCCAAAGAACTACATGTCACAGTATTTTAAGCTCCTAGAAAAATTCCAGATTGCTTTGCCAATAGGAGAAGAATATTTGCTGGTTCCAAGCAGGTAAAGAAAACCTTAAAAAATTAATTGCTACATGGAAATTCACTATCTATTCTTTTAATTGTCAAACTAACTGTAGTCTATAATAGATGTATTAAATAAATAAATATATTTTGCTTCTAGTGTAAACCTCCTACTGACATGTATCATTTATTTTGGAATAAAACATTGCATCTGACACTTTAACAATATAGTAAATCACTTACTTTATGTGTATAGTTACTAGTTGGCTTATCACTGTTGAAATTATTTAAGAAAGGTAAATAGTGGAGATTAATGTGTGTGTGTGTCTGTGTTTGTGTATGTGTGTGTTCTTAAACAACACTGAGAGAGTTTATTAAGCAAGTTCTGAGAAGATAGTGAGTTTTCAACAGAATTTTAAAAGCATTTATGGCATCACAATGGATGCCTATGTTTTAGCCTATACTATGGAAATTTTTCCTACTGCTCTAAGCAACTGGGAAATTTATAAAGTAATATGATGTTGAAATGTGCAAATTACATTGATTGATGGATGCAGCCAATTTTAAAAATAAATATACACTTTTTTTCTAGGACATGTATTTTTCAGGATTTATATAAGATTACATTTGTCTATGCATAACTAATTGTAATAATTTATGTATTAGTGCACAGGGATTACCGAAAATATTTCATGCATCTACATCTGAGCATGCATTTGAATTGGTTATTGACCACTGAATTTTTGGTGTAGGAAAAATATGTAGTGAAACAATGTTACAAAAAGATTACAATTGTTTGGAATGATTACCTTCATTGACTTTAAGCAGTAAAATCATTTGCTCAACAAGGTTGGGTGTTTTGTGAGGCTGTATAACCATAGTGTCCTTTTGCCTTTAGTTTGTCTGACCACAGGCCTGTGATAGAGCTTCCCCATTGTGAGAACTCTGAAATTATCATCCGACTATATGAAATGCCTTATTTTCCAATGGGATTTTGGTCAAGATTAATCAATCGATTACTTGAGATTTCACCTTACATGCTTTCAGGGAGAGGTAAGTATCTAATGAAGACTTATTAGATTTTTAGAGACTATTAATTTAGACTTATTAATTTTTAGAGAAATTAGGGAGATGGCATATGAAAAGTAATATGCCATTTTCTCAGAGTTTACTTGTTTGGAAGGCAGCTGAAGAATTAGAAAATAAGCTCATAAAACCTTGGAGTAGGCAATCTAAAGACACACAAGCACATATAACCTCATCTAATTTGTCAGGAAGAAAATTCCTTAGGTGCTCACTCAGATCTTGACTGTGATTACATTGTAGGGACTGTAATTATCTCTTTTCTGTTGCACAGCCACTAAGACATTTACAAAAAAAGAGCAAATCCGGTGTTTATAATGCTAACTCTTTCTTCTAAAATAAATAGAGACATTTTGGTACTCCAAAGGGAAAATATCATTTTGGGGATTAAAATTAGCTTTACACAGGTGTTACTGGTTTCCAAAATAAACCTTACCTTGATTGGAATTAATCAACATATAGGTAGTTACATTGCATTAAAAAGTTCAGAAAGTTTTGCGTTTAGCATGATCAAAAACTTCTTTTTAAAAATTATGAGGATTTATTTATGATTTTCTTTCTTCATCTGTCGAGCATATTAAACTGCTTAACAGCATCAACCTGAAATGGATCTTAATGTGCAGGGGATTTAACTCTTTTTATTGTAAAGTTGTGGATAAAATATTTAATAGATATGGATGAGGACTCATATCAGTAACAACCCAATACTTTATTTCAAAATGAATAGATCTGTATTACAATCACTTGTGTTGTGTGCAGTAGATTTTTTCCCTTTAACTTAGGAAGCAGTTAATAATTAATGGCTCCATTTTTTAGAACGAGCACTTCGCCCAAACAGAATGTATTGGCGACAAGGCATTTACTTAAATTGGTCTCCTGAAGCTTATTGTCTGGTAGGATCTGAAGTCTTAGACAATCATCCAGAGAGTTTCTTAAAAATTACAGTTCCTTCTTGTAGAAAAGGTAAGGAAATCAATTTGAATGTTTTCAATTGCAACACTAAAGAAATTTAAACTTAAAAAAAAAAAAAACTTTACCTTAAAGCTTTGCGACAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTGTGGACCACATTGATTCTCTCATGGAAGAATGGTTTCCTGGGTTGCTGGAGATTGATATTTGTGGTGAAGGAGAAACTCTGTTGAAGAAATGGGCATTATATAGTTTTAATGATGGTGAAGAACATCAAAAAATCTTACTTGATGACTTGATGAAGAAAGCAGAGGAAGGTATGTTTTGATACAACTTACAAATGCTTTTAAGTGATCCTTCAATACTTATGAAGTGACTTTTAATAAATGTAAATATTCTTATCCATAAGGGATGAGTTGAAAAATAGTATATTCAATTATAGGGACAGTTCAGAAAACTGAATTATATTTATTACCAATAAAATCTTGTATTCTAGATTCAGAAAATGTTGATTTGAGGGTTTGAATGCTGGCTTATTGAGCAACATAACCTCATCTGTGAAACCGGAATACCAACCACATCTATCTCATAGAACTGTTATAAAGATTCAAATAGACAATACATGGACCTAATTTACCAACATGTCTGCCATATAATAACAGCTGCAGCTTCATGAATGTGGCAAAAGCAGAGAGTAGATAACTTTCTAGTCAGATGTCTGGTAGTCTGCAGCAGTTCAGAATTCTACAAGTGAACGTAGGAATAAGTTTTTAAAATTCCAAGTAGATAGATACTAAGTGAATCTTTAAAATGTTCTCAAATTTCCTAGAGAAATATAGGATTGGTTAGAAAGGGAGGGATTAGAAATTATAGAAAATATTCCATTATTTTTTCACATCAAAACCACAAATTTATGTATCTCCTTAAATGTTGTTTTTATTTAAAAAATGTTTTATTACTTCTCAGGA
|
GTTTAAGTATTCCTTAAACATTATAGATCTCCCAAAGAAAATTAAATACAAACCTCTTTTTAAAGTGAATTTGACAAAGCAAAATAAATTGGAATATATAGATAAATATGCTAAAATTTGTCATATGTACTTTGCGTACTTTACATGTGTTATTTCATTCTCAGGGCAATCTAAGACAGTCACTTTTATTATCTCATTTTATAGAGAAGAAAGCTGTGCAGTAAAGAAATCAAATACCTTTCCCAAGGTTACAGAGCTAGTAGTAGAGCCTGGATTTGAATCTGGGTTCTGACTGATTTTTAACTGCCATGACAAGGATCAAAGCTCAAAGTGTGATCTCTGTGTTAGAAACATCGGGGTTGCTCTTTAAAAAAGCCGATTCTCAGGCCTCAACCCAGACCTACTGACCCAGACACTGCAAGTAGAATCCATCAAAATGCAGTAGTTACTTTGAGAATCATGAAACTCTGCTACACAGTCTGTCTTCCTATTCATGGAAGTCCTCTCCTAGTATATAAATGTGAAGTAATATTTCTATTTCAAACCTGTATTGATAACTGTCTGGAAGATAATTTTCCTGGGAATATATTATTGATGAGACTGCAAAACAGATGTGAGGTATTGGATTGATCTTTCCATTGTAGCTAGGGAAATACTGATGTTCATTGTTTCAGTGAAGTTCAATGATTTCCTATCCGAATTAACTCCCTTAATTTAACAATTTTTTTTTTTTTTTTGAGAGTGAATGCCCCTCTGGGCTTCTAGGCCACATGGTTGCTAGAGAAATTAGGTACTGTGTTGCACTTGAAAACACTAAAATCTTTCTGACTACTTTCACTGAGCAAAGAGACATAAAATGCTTTAAATTTGCAACATTTCAGAAAATAAATTTTAGTGATTATTTATGACTCGAATCTTTCAGATTTTGACAGTGAAAGTGGAAGGTTGTCCAAAACACCCTAAGGGCATTATTTCGCGTAGAGATGTGGAAAAATTTCTTTCAAAAAAAAGGAAATTTCCAAAGAACTACATGTCACAGTATTTTAAGCTCCTAGAAAAATTCCAGATTGCTTTGCCAATAGGAGAAGAATATTTGCTGGTTCCAAGCAGGTAAAGAAAACCTTAAAAAATTAATTGCTACATGGAAATTCACTATCTATTCTTTTAATTGTCAAACTAACTGTAGTCTATAATAGATGTATTAAATAAATAAATATATTTTGCTTCTAGTGTAAACCTCCTACTGACATGTATCATTTATTTTGGAATAAAACATTGCATCTGACACTTTAACAATATAGTAAATCACTTACTTTATGTGTATAGTTACTAGTTGGCTTATCACTGTTGAAATTATTTAAGAAAGGTAAATAGTGGAGATTAATGTGTGTGTGTGTCTGTGTTTGTGTATGTGTGTGTTCTTAAACAACACTGAGAGAGTTTATTAAGCAAGTTCTGAGAAGATAGTGAGTTTTCAACAGAATTTTAAAAGCATTTATGGCATCACAATGGATGCCTATGTTTTAGCCTATACTATGGAAATTTTTCCTACTGCTCTAAGCAACTGGGAAATTTATAAAGTAATATGATGTTGAAATGTGCAAATTACATTGATTGATGGATGCAGCCAATTTTAAAAATAAATATACACTTTTTTTCTAGGACATGTATTTTTCAGGATTTATATAAGATTACATTTGTCTATGCATAACTAATTGTAATAATTTATGTATTAGTGCACAGGGATTACCGAAAATATTTCATGCATCTACATCTGAGCATGCATTTGAATTGGTTATTGACCACTGAATTTTTGGTGTAGGAAAAATATGTAGTGAAACAATGTTACAAAAAGATTACAATTGTTTGGAATGATTACCTTCATTGACTTTAAGCAGTAAAATCATTTGCTCAACAAGGTTGGGTGTTTTGTGAGGCTGTATAACCATAGTGTCCTTTTGCCTTTAGTTTGTCTGACCACAGGCCTGTGATAGAGCTTCCCCATTGTGAGAACTCTGAAATTATCATCCGACTATATGAAATGCCTTGTTTTCCAATGGGATTTTGGTCAAGATTAATCAATCGATTACTTGAGATTTCACCTTACATGCTTTCAGGGAGAGGTAAGTATCTAATGAAGACTTATTAGATTTTTAGAGACTATTAATTTAGACTTATTAATTTTTAGAGAAATTAGGGAGATGGCATATGAAAAGTAATATGCCATTTTCTCAGAGTTTACTTGTTTGGAAGGCAGCTGAAGAATTAGAAAATAAGCTCATAAAACCTTGGAGTAGGCAATCTAAAGACACACAAGCACATATAACCTCATCTAATTTGTCAGGAAGAAAATTCCTTAGGTGCTCACTCAGATCTTGACTGTGATTACATTGTAGGGACTGTAATTATCTCTTTTCTGTTGCACAGCCACTAAGACATTTACAAAAAAAGAGCAAATCCGGTGTTTATAATGCTAACTCTTTCTTCTAAAATAAATAGAGACATTTTGGTACTCCAAAGGGAAAATATCATTTTGGGGATTAAAATTAGCTTTACACAGGTGTTACTGGTTTCCAAAATAAACCTTACCTTGATTGGAATTAATCAACATATAGGTAGTTACATTGCATTAAAAAGTTCAGAAAGTTTTGCGTTTAGCATGATCAAAAACTTCTTTTTAAAAATTATGAGGATTTATTTATGATTTTCTTTCTTCATCTGTCGAGCATATTAAACTGCTTAACAGCATCAACCTGAAATGGATCTTAATGTGCAGGGGATTTAACTCTTTTTATTGTAAAGTTGTGGATAAAATATTTAATAGATATGGATGAGGACTCATATCAGTAACAACCCAATACTTTATTTCAAAATGAATAGATCTGTATTACAATCACTTGTGTTGTGTGCAGTAGATTTTTTCCCTTTAACTTAGGAAGCAGTTAATAATTAATGGCTCCATTTTTTAGAACGAGCACTTCGCCCAAACAGAATGTATTGGCGACAAGGCATTTACTTAAATTGGTCTCCTGAAGCTTATTGTCTGGTAGGATCTGAAGTCTTAGACAATCATCCAGAGAGTTTCTTAAAAATTACAGTTCCTTCTTGTAGAAAAGGTAAGGAAATCAATTTGAATGTTTTCAATTGCAACACTAAAGAAATTTAAACTTAAAAAAAAAAAAAACTTTACCTTAAAGCTTTGCGACAGTATGAGGTTTAGACAAGGTGTTGAGCTCTGTTTTGAATCATGTAGGCTGTATTCTTTTGGGCCAAGTTGTGGACCACATTGATTCTCTCATGGAAGAATGGTTTCCTGGGTTGCTGGAGATTGATATTTGTGGTGAAGGAGAAACTCTGTTGAAGAAATGGGCATTATATAGTTTTAATGATGGTGAAGAACATCAAAAAATCTTACTTGATGACTTGATGAAGAAAGCAGAGGAAGGTATGTTTTGATACAACTTACAAATGCTTTTAAGTGATCCTTCAATACTTATGAAGTGACTTTTAATAAATGTAAATATTCTTATCCATAAGGGATGAGTTGAAAAATAGTATATTCAATTATAGGGACAGTTCAGAAAACTGAATTATATTTATTACCAATAAAATCTTGTATTCTAGATTCAGAAAATGTTGATTTGAGGGTTTGAATGCTGGCTTATTGAGCAACATAACCTCATCTGTGAAACCGGAATACCAACCACATCTATCTCATAGAACTGTTATAAAGATTCAAATAGACAATACATGGACCTAATTTACCAACATGTCTGCCATATAATAACAGCTGCAGCTTCATGAATGTGGCAAAAGCAGAGAGTAGATAACTTTCTAGTCAGATGTCTGGTAGTCTGCAGCAGTTCAGAATTCTACAAGTGAACGTAGGAATAAGTTTTTAAAATTCCAAGTAGATAGATACTAAGTGAATCTTTAAAATGTTCTCAAATTTCCTAGAGAAATATAGGATTGGTTAGAAAGGGAGGGATTAGAAATTATAGAAAATATTCCATTATTTTTTCACATCAAAACCACAAATTTATGTATCTCCTTAAATGTTGTTTTTATTTAAAAAATGTTTTATTACTTCTCAGGA
|
Task1_train_17302
|
A mutation found in LRRK2 (leucine rich repeat kinase 2) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; not provided
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ATTTTTGGAATAATTCTATTCAGAATCAGATAAAGTTTACTTTAAGCTATGAAGAAAGAAGTCTCTTAGCAACTCTTACAATAATCACAATCAAAGAATGACTGTTTAACTTAATATAAACCAGTTTGTTTTAATAAAATATTTGACAATAGTCATGGTTACACAATGCATAAATTATGGCTAAATTATTATCAGGAAGGAAAAATCTTTACTTATTATTTCAAAAGCTATTTTGCTAGTCTATTAAAAGCTATTAGAACTGCACTTCTTAAGATTAAATTCTATAATTGAACATTTTAACTAACCAAGATATTATCTCTTTGCCACTGACATTATTTCAAATTAAGCTTAACTATTTCTTTTTAGCCTTTGGAAAGTATTCTGAAAGAGTCTGTGTTCTATAAATATACTTAAAGAGGCATGTCTTATAAAGGATTTGGATACTATTCAATGATGTATGACTTGGCTTTAGCTTTTTTATTCTTAATCTCTCAGCTTTTCTCTTCAGCAGGGGAAGAGTACCTAATGGCCTTTCAGTAATCCCTTGGTAAATTTTTCTTTCAAGCCCATTACTTACTGTGAAGGTCAACTTCATTAGTGTATTTATCTTATTTTTTTCAGCCCAAAATAGGTATATTGAAATGAATGGGCCTAATGTCAAATGTCCCGACTACATCCTGGAAGAGAGAGAATCTTCAGCTGTATTAGTTGATGCAGTTAAATAATATGTACTCTCCAGGCCCTCATACAATTGAAAGTTCAGGGTATCGTTGCTGCTCTGCTTCTAATCCTTCCAGAAGTGATTGGTGCTAGGTGATGGAGTAACTATTAATTGATATAATGTGAGCCAAAACCAACAGTCACGAATAAGCAAAGGATTTAAATTTAACTCCATTAAGTCTTGTGAGAAATTATTTTCAACATAGGTTATAACATACCTGTGACATCACATGAAATGCTGTAGTCAATTTGACATCATGGGGCAGAGAAGACAGAGTTGGAAATCAGAATTTTATAGACATCTAATGTGATAATAACATTAGTAGCTGAGATGCGGTAAGCTCTTTGACCATGTTTCCAGAATGGATAAGACCTGGTTGAGATGAAAACTTTACACTGTTTTTTTATATTAACTATCTTTTACTCTTTGCCTGAAATGTCCAACTCTAGTTGCTCGTGATTGCGTGGGTCAGTCTCCAGAAGGTTGGACTTTAATATTACCCGTCATCTTTTCCAAGACAAAATTGTATTCATTCTAACTCTTAGCCCCAAATTTTCTTTTTTAACCTTAATATCTAACATGATTAGGTTTATGGTAAATTATATACTCAAACAGAAGAAGAGACTAATAGCAAGCAAAAGTCTTATATTTTCATTTGTTTTCATCCAAAAAGTAGAAAATATTTTCCAAACATTGGGAAACATTTTAGTCAGAAAAATAAATATCAATGATAAATAGAATAGAGAAAAATTTTAAAGCTGAGCTAAACCTCTATGTGGTTTTAGGAAAATCAAAACTATTAAATAAATGGCAAGTACAACAAAATCCCATCAATTCTTATTTAACATACTTACATTTTGAAATAGTTAAAATATTCATATGATCATTGAGAGAATTCAGAATTGCCTTTAAGTAATTGTTCACATATACAAAAGAAAAGTCTCCAAAAATTGGGTCTTTGCCTGAGATAGATTTGTCTTAAAATTGAAATCATTCACTTATCAGATTTGACCCTTTTTTAAAGCATAACTTTGCTGTGTAATATTAGACTTATATGTTTTGATTTCCTTCTACAATATCTCTTAACTTTAAGGGACAAAGTGAGCACAGAATTTTTGATGCTTGACATAGTGGACATTTATATTTAAGGAAATTAGGACAAAAATTATTATAATGTAATCACATTTGAATAAGATTTCCTGTGCATTTTCTGGCAGATACCTCCACTCAGCCATGATTATATACCGAGACCTGAAACCCCACAATGTGCTGCTTTTCACACTGTATCCCAATGCTGCCATCATTGCAAAGATTGCTGACTACGGCATTGCTCAGTACTGCTGTAGAATGGGGATAAAAACATCAGAGGGCACACCAGGTAGGTGATCAGGTCTGTCTCATAATTCTATCTTCAGGATGGATAACCACTGACCTCAGATGTGAGTTCAGAAGAGTCAAAAGGAAAACAGAGTCTATCACATTGTGAACAGAGGTTTATTTTGTGAAAAAATGCAAGCATCACATTGTGATTTTTATCATTGTATTTTGTAGGAAAAAAACAATTGATGTAATTTTTCAGGGCAAAAACTGAATAAAAAGAAGAGAATGTTTGATATCAAGTTATATGTTTTAAAGTTAGATTTGTAGATTCTTTAGATACTCTAGAGGTCATAAAAAGTAACAGCAAAAACTTTAGTCTAGGTATTGTTGGCACTTGTGAGGCAAATCAAATTCAGGTCCACAAATTCTTTTTCATAATTCTGAAACCCAAAGAACTCTGAAAATCCCAAGATTTTTTAAAAAATGACTAATTTGGTGTCAAAACCTAAGCAAGCTGACTTGTTGCTTATTACAATCTTTATTTCTCATGCTCAGTGTGAATATGCATACATTTTGCTGCAGAAATATATACATGTTTGAGTACAGGGGGCTGGCCGTGACCCTACTGAGGGTTTCTGTACACATCACTGTCTACCCTGTGGAATCTTACCTCCCTTTCTTAGTTCCCAATCCTGAAAAGCAGTTATGGGGCCAGTGCTCTGTACAGACATGTTGTCTCAGACATCAGTTTGAGCAGGAAGTAAATCATTTAGGGGTTGGCATTTGTTTGGAGTGTGGGGAACACTCTATCTTTAGGGAAACTTTATATAGTTAGTTATTTGTAAGTAAAATTACAGGTGGCTATACATCATCTTGCTGATTGCAACTCAATTAAATCACCGTGCCTGGCACAGAAGAAAATATGCTACAGGATATCTCACTAGGGAAAAGGTTCTAGTTCGTTTCCTGCGCACTCAACTTTTGTACTTAGATAAGCAAATGGCCCCAGATTCCAATGCCTGGTTTTATTTTTGCTCCAAATACATATATACTCTTTTGTTTTGGATAGTTACATTTTAGAAGTAGACTGTGTATTCTCATAAACACTTCAAAGTGTATGTTCTGGCTGAGAGTGTCTCTGTGTTGTTCAATAATAATAAGACTAATTATCATTTTTTGAGTACCTGCTGTGCGTCAGGCCCAGTGCCACGTATATTAGAGACAAGATCTCTTATCCTCATGCCAGGGCTGGAAGTTAGCTATTAGTTTCTCATTTGCCAAATGAGAAAACTGAGGCTCAGGGAGATTATGTAACTTGCAGAATATCACTCAGTAATTGGCCAAGATAAGAATTCAGTCTAAATGAGAACCAGATCCAGAGATATTTGGCTTTAAATTCTATAGTCTCTCCTAAACCATATGCAACTCTAACATGAAGAAGCTTATTTAATCTTCACTATTAAAAAAGTCAAAACAAAACAACAGAGCCATGAATAGCAAATATTGTCAATGAGAGGTTTGGAAAAACAGTCTTAAAGGATGAAATTCCATAGACCTGATATATTTCCACCTGGAAAAAGTGGGCATGGGACAGTGATTTTCTCTTGAAAGATCTGCTCATTTTTGTCATGGGACATGAAGGTGGACTGGACCACTCAGTTTCTTCTTTCTGCATCTCCCAACCCAGTCTTTCTGTTCATGGGGTGAAAATCTGTTGTTGAAGCCTTGTCTGCTTAATTGGACAGTGGATCTCTCGGGTCCCTGTGGGCTGTGCGCTTGTACTTGAGCTCTGCTTCTTCACTCTGTGGTCTAGGCCAGCTAGCAGCCAGCTGAGTTCACCTTGGTTCAGACTCATGGCCTTTCATTTTCAGTATCTGACTTCCTGGTTTTGCTGAAAACCTGTCTAAAATGTAATATCCATCTGATTCTTCATACCAAGCCACACAATTCTTCCTGATCCCTTTTAATCTCCAATATTGAATGGTGGTAACATAAATATGGAGACAGATCATGTCAGAAACCCAGGGCCTAATCTTTTCTTTTCTGCCTACTCTT
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ATTTTTGGAATAATTCTATTCAGAATCAGATAAAGTTTACTTTAAGCTATGAAGAAAGAAGTCTCTTAGCAACTCTTACAATAATCACAATCAAAGAATGACTGTTTAACTTAATATAAACCAGTTTGTTTTAATAAAATATTTGACAATAGTCATGGTTACACAATGCATAAATTATGGCTAAATTATTATCAGGAAGGAAAAATCTTTACTTATTATTTCAAAAGCTATTTTGCTAGTCTATTAAAAGCTATTAGAACTGCACTTCTTAAGATTAAATTCTATAATTGAACATTTTAACTAACCAAGATATTATCTCTTTGCCACTGACATTATTTCAAATTAAGCTTAACTATTTCTTTTTAGCCTTTGGAAAGTATTCTGAAAGAGTCTGTGTTCTATAAATATACTTAAAGAGGCATGTCTTATAAAGGATTTGGATACTATTCAATGATGTATGACTTGGCTTTAGCTTTTTTATTCTTAATCTCTCAGCTTTTCTCTTCAGCAGGGGAAGAGTACCTAATGGCCTTTCAGTAATCCCTTGGTAAATTTTTCTTTCAAGCCCATTACTTACTGTGAAGGTCAACTTCATTAGTGTATTTATCTTATTTTTTTCAGCCCAAAATAGGTATATTGAAATGAATGGGCCTAATGTCAAATGTCCCGACTACATCCTGGAAGAGAGAGAATCTTCAGCTGTATTAGTTGATGCAGTTAAATAATATGTACTCTCCAGGCCCTCATACAATTGAAAGTTCAGGGTATCGTTGCTGCTCTGCTTCTAATCCTTCCAGAAGTGATTGGTGCTAGGTGATGGAGTAACTATTAATTGATATAATGTGAGCCAAAACCAACAGTCACGAATAAGCAAAGGATTTAAATTTAACTCCATTAAGTCTTGTGAGAAATTATTTTCAACATAGGTTATAACATACCTGTGACATCACATGAAATGCTGTAGTCAATTTGACATCATGGGGCAGAGAAGACAGAGTTGGAAATCAGAATTTTATAGACATCTAATGTGATAATAACATTAGTAGCTGAGATGCGGTAAGCTCTTTGACCATGTTTCCAGAATGGATAAGACCTGGTTGAGATGAAAACTTTACACTGTTTTTTTATATTAACTATCTTTTACTCTTTGCCTGAAATGTCCAACTCTAGTTGCTCGTGATTGCGTGGGTCAGTCTCCAGAAGGTTGGACTTTAATATTACCCGTCATCTTTTCCAAGACAAAATTGTATTCATTCTAACTCTTAGCCCCAAATTTTCTTTTTTAACCTTAATATCTAACATGATTAGGTTTATGGTAAATTATATACTCAAACAGAAGAAGAGACTAATAGCAAGCAAAAGTCTTATATTTTCATTTGTTTTCATCCAAAAAGTAGAAAATATTTTCCAAACATTGGGAAACATTTTAGTCAGAAAAATAAATATCAATGATAAATAGAATAGAGAAAAATTTTAAAGCTGAGCTAAACCTCTATGTGGTTTTAGGAAAATCAAAACTATTAAATAAATGGCAAGTACAACAAAATCCCATCAATTCTTATTTAACATACTTACATTTTGAAATAGTTAAAATATTCATATGATCATTGAGAGAATTCAGAATTGCCTTTAAGTAATTGTTCACATATACAAAAGAAAAGTCTCCAAAAATTGGGTCTTTGCCTGAGATAGATTTGTCTTAAAATTGAAATCATTCACTTATCAGATTTGACCCTTTTTTAAAGCATAACTTTGCTGTGTAATATTAGACTTATATGTTTTGATTTCCTTCTACAATATCTCTTAACTTTAAGGGACAAAGTGAGCACAGAATTTTTGATGCTTGACATAGTGGACATTTATATTTAAGGAAATTAGGACAAAAATTATTATAATGTAATCACATTTGAATAAGATTTCCTGTGCATTTTCTGGCAGATACCTCCACTCAGCCATGATTATATACCGAGACCTGAAACCCCACAATGTGCTGCTTTTCACACTGTATCCCAATGCTGCCATCATTGCAAAGATTGCTGACTACGGCACTGCTCAGTACTGCTGTAGAATGGGGATAAAAACATCAGAGGGCACACCAGGTAGGTGATCAGGTCTGTCTCATAATTCTATCTTCAGGATGGATAACCACTGACCTCAGATGTGAGTTCAGAAGAGTCAAAAGGAAAACAGAGTCTATCACATTGTGAACAGAGGTTTATTTTGTGAAAAAATGCAAGCATCACATTGTGATTTTTATCATTGTATTTTGTAGGAAAAAAACAATTGATGTAATTTTTCAGGGCAAAAACTGAATAAAAAGAAGAGAATGTTTGATATCAAGTTATATGTTTTAAAGTTAGATTTGTAGATTCTTTAGATACTCTAGAGGTCATAAAAAGTAACAGCAAAAACTTTAGTCTAGGTATTGTTGGCACTTGTGAGGCAAATCAAATTCAGGTCCACAAATTCTTTTTCATAATTCTGAAACCCAAAGAACTCTGAAAATCCCAAGATTTTTTAAAAAATGACTAATTTGGTGTCAAAACCTAAGCAAGCTGACTTGTTGCTTATTACAATCTTTATTTCTCATGCTCAGTGTGAATATGCATACATTTTGCTGCAGAAATATATACATGTTTGAGTACAGGGGGCTGGCCGTGACCCTACTGAGGGTTTCTGTACACATCACTGTCTACCCTGTGGAATCTTACCTCCCTTTCTTAGTTCCCAATCCTGAAAAGCAGTTATGGGGCCAGTGCTCTGTACAGACATGTTGTCTCAGACATCAGTTTGAGCAGGAAGTAAATCATTTAGGGGTTGGCATTTGTTTGGAGTGTGGGGAACACTCTATCTTTAGGGAAACTTTATATAGTTAGTTATTTGTAAGTAAAATTACAGGTGGCTATACATCATCTTGCTGATTGCAACTCAATTAAATCACCGTGCCTGGCACAGAAGAAAATATGCTACAGGATATCTCACTAGGGAAAAGGTTCTAGTTCGTTTCCTGCGCACTCAACTTTTGTACTTAGATAAGCAAATGGCCCCAGATTCCAATGCCTGGTTTTATTTTTGCTCCAAATACATATATACTCTTTTGTTTTGGATAGTTACATTTTAGAAGTAGACTGTGTATTCTCATAAACACTTCAAAGTGTATGTTCTGGCTGAGAGTGTCTCTGTGTTGTTCAATAATAATAAGACTAATTATCATTTTTTGAGTACCTGCTGTGCGTCAGGCCCAGTGCCACGTATATTAGAGACAAGATCTCTTATCCTCATGCCAGGGCTGGAAGTTAGCTATTAGTTTCTCATTTGCCAAATGAGAAAACTGAGGCTCAGGGAGATTATGTAACTTGCAGAATATCACTCAGTAATTGGCCAAGATAAGAATTCAGTCTAAATGAGAACCAGATCCAGAGATATTTGGCTTTAAATTCTATAGTCTCTCCTAAACCATATGCAACTCTAACATGAAGAAGCTTATTTAATCTTCACTATTAAAAAAGTCAAAACAAAACAACAGAGCCATGAATAGCAAATATTGTCAATGAGAGGTTTGGAAAAACAGTCTTAAAGGATGAAATTCCATAGACCTGATATATTTCCACCTGGAAAAAGTGGGCATGGGACAGTGATTTTCTCTTGAAAGATCTGCTCATTTTTGTCATGGGACATGAAGGTGGACTGGACCACTCAGTTTCTTCTTTCTGCATCTCCCAACCCAGTCTTTCTGTTCATGGGGTGAAAATCTGTTGTTGAAGCCTTGTCTGCTTAATTGGACAGTGGATCTCTCGGGTCCCTGTGGGCTGTGCGCTTGTACTTGAGCTCTGCTTCTTCACTCTGTGGTCTAGGCCAGCTAGCAGCCAGCTGAGTTCACCTTGGTTCAGACTCATGGCCTTTCATTTTCAGTATCTGACTTCCTGGTTTTGCTGAAAACCTGTCTAAAATGTAATATCCATCTGATTCTTCATACCAAGCCACACAATTCTTCCTGATCCCTTTTAATCTCCAATATTGAATGGTGGTAACATAAATATGGAGACAGATCATGTCAGAAACCCAGGGCCTAATCTTTTCTTTTCTGCCTACTCTT
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Task1_train_17303
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Assess the clinical impact of this variant on gene PRICKLE1 (prickle planar cell polarity protein 1), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Epilepsy, progressive myoclonic, 1B
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TCAGTCTCACCCACCATTCTTCCTCAACTCCCCTTTATTGCCGGCCTTATCTTTGACAAGTCCACAGAAGCCGGGGGGGTAGCTTTGCCGTACCCTTCCTTGTCACTGCAGTGTCTGGCACAAGTTATTCCTGGCAGGAAGCAGCTACTAAGCCTTTCCTGTCTACATTACAGAAGCATTACCTTCATCAAAGGGCTGGATGTCAGTAGTTTGACTATAAAACTAGCCATGCAACAGCAACATTTCTATAATCCAAAGACTTGTTGCAAATAATTTGCATAATGTCCTAGGTTCTAGGCCTAATCTTGCCTTTAGAACCTATGTAATGTTTGGCATTTAGCCTTTTGGTAATTCAAGTTTCCTCATTTGTGAAATGCAATCATATCATCCACTCTATATAGCTCAGGGTCATTTTAAAGATAAAATGTGGATAACTGGTATGACTGTGCTTTGAAAACATTAAAGTAGGCCAGGGGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGTCTCACAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTATAATCCCAGCTACTCATGAGGCTGAGGCAGGAGAATCGCTTAAACTCAGGAACCTGAGAGGCAGAGGTTATAGTGAGCTGATATCGCGTCATTGCACCCCAACCTGGGTGACAAGAGTGAAACTCCATCTCAAAACAAAACAAAAAACTAGGAAAAAAAAGAAAACATTACAGTAATATTTTAGAATCTAAATAAAAAGTATTCAGCTGTTTTTGAGCTACTGTCACAGGGAAATTCAGGAAGATGTTTAAAAAAAAAAATGAGCTTGTGGCCAGGCGTGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTATGCACCTGTAATCCCAGCTACTGGGGAGGCAGAGGCAGAAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTGAGGTGAGACTGCGCCATTGCACTCCATCCTGGGCGACAAGGGCGAAACTCCACCTCAAAAAAAAAAAGAGCTTGTAAAGTGTGTGGGCCAATTTTGGTATCTTAGAATACATACAGAATAATTCAAGCGTACAATATCTTTCAGACACAATCCAGTTGTACACTCCTTCCTCCAATCAATTTCCTTCTCTTCAAAACAGGGTAATAAAACCTATCCCTAAAGACTGCACTGTAAATATATTTTATGCACATGCACTCACCTCACACATGTGTTTGTTTTGCTAGTGTTTGGTATTTAAGTGAGGTTCCTTCCTTCCCTTGATCCATGGTTTTGAATAACACACAACTCCTACTCATGCTGAATTGCAATTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGCCCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGCCGCGGTTTCGCCATGTTGCCTGGGCTGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGCCTCCCATAGTGCTGGAATTATAGGCATGAGCCACTGCGCCTGGCTTGAATTGCAATTTTTTGAATACACTTTTTAGTAGCTCCTTTTTTCAAATACCCCATAATCCCTAGATTACGTACCTGTGATATTGGACAATGCCAAAGAATCCATCGAATCCCGAACACTTTGCTCTGGTTTCAGGTCTGACAGACACTCCAGGGAATCTTCATACCACTGTGTTTCATCATGATTATACCCTGAAGCCCCATGGTCCAGTTCCAATTCCTGAAGCCTTCTACTGCTTGCAGGGCCTGGGTGGCTGCCATAAGCAGAATCGCCCAGTCCATCTTGTGACTGTGCCCAGTACATATCAGACTGGTATTTTTTACTTGCAAGGCTCTGGTTATTTTGCTTTAACTCGGTCTTACTTTTAACCATGTTATCAGATATCCAGTGCTCACTGGCTCGAATATCCATCTCATTGGGCTGTGGCTGAAAGAGGCTTTTATCACCAAACTTGAGGAGGAGCTGCGTCATATAATCTTCATGATCAGCCCATTCTTCAGGGTCTTCTGGAGTTTCCTGCTCTACTCTGCCTTTCCAAAATTCTTCACTGGCAAAACTTGTTCCTTGTCTGGAGAGACTCAGATCATCCAATTTTCGAGAAAGGGTGTCATCAGCATTGCCTGAGAGGCCAGGAAACTTGTAGTTCAGAGCAGGCGATAAGAGGAGAGACTGTCTACACTGATCTGCTGACCGGCTGCTCTTGCCCATTCGGACACTTCTTCGGGAGTCTCTTGATCGAGCTGACTGAAATGCAGAGTCGGAAGAATCAGAGGCATGGACGTCTTCACCAAGACTGCACGTTTTTGAGCAGTAAATCTGACCCTGTTTGGGAAGGAAGGGACATCCCAACAAAGAGGCTTTACACTGGGCACAAGAAAAGCAGGCTTCCGTGGCGTGCCAGTGCTGCCCGTCATAGGTCATCTGTGCATGGTCCACACCTGTTTTGAAAAGGATAGAATAAATAACAGGTTATGGTTTAATGCCTGAAACAAGGTATAAGGAAGAAACGAAGAAAATAAATAAAGATTATGGGTATGGGGGAGCTGTGTGGGTGACACAGATATAATTAATCCTCATTCTTTGTGGATTCTGTATTTGTGAGTGTGCCTACTCATAAAAATTTATTCACAACTCCCAAACTAATATTCGCAACAGTTTCATGGTCATTCGCAGATGTGCAGAGTGGTAAAAATACGAACTGAACCAACATGCACTGATCCAGGAGATGCTCAGCTTTTTGTTTCAGCTCTCATACTGTAGACAAGTGTCCTATTTCTGGTCTATCTACTGCCGCGTTTTCTGCATTTTTGTGCTCTTTGTTGGTGAGTTTACTGTTTAAAATGGCCCCCAAGTGTAATGCTGATAATGCTGAAATGCTGTCATGTTGCTAAGGGCAAGAAGGCTGTGATGTGCCTTACAGAGAAAAGACATGTATTACGTAAGCTCCTAATCTTGAGTACGGTACCACTGGCTGTGAGTTCAATATTAATGCATCAACAATGTACATTCAATAAGGCAGTGGCTTTAAGCAAAAACACACGTGAAACAAGGTTATGTATTGATGGGTTGATGAAACTGCTGTGACCAGAGGCTCACAGGAACCTAACCCTGTATTCCCCCATGAGCAATGGTTCAGTGTTCACTAATCCAGTGTTTGCAGTAACGTCACAGAACACAACTACTGCAAGTAACAAGAATCAACTCTCTGTTCATTTGTCAAAGCTCATCAGCTGGAACATTTAAGATCTGTACATTTCATTGTATGTAAATTATATCTCAACTTTAAAAAACAGAAAAAGAAAAAATAAGACTGGATAATCCAAGACAGACTAATGGCTAGGTGACAGGGCAGACGGGCTGGCTGTGGACTTACCAATATGTTCCCCACAGGTTTCACAGTACTCCGCATAGAGAGACTCAAAACAGCCACAGCAGAAGGGGCGGCCGTCCTTCATGATATACCTCTGTCCTCCCAGGACCGTTTCACACTCAAGGCAGCAGAAGTGTTTCATGTGCCAATGGCGACCCTCAGCTTCTGTGCACTCATCAGCAAAAATTATCTTCAAAAAGAAATGTGAAACCAGAGAATGAAAGAAAATCATTAGGAACTATTTTAAAGGCCAAGTAACTGCATGTTTTCCGGGCAATGGACAGACACTGGCTCTTAAAAAAATCAGATAGCTAACCTTGTTTCTTAGAGTCACAAGCTTAAATCTAACACTTGATTTAGCTACAAACTAGAGCATAAATTGACAGTGCTGAGAAAACAAACTAAATAATAAATGCTTGCTTTGACTTTAAAAAAACAGAATTCTACACCGGAGGTAATTCATTTGGTCATATTTTT
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TCAGTCTCACCCACCATTCTTCCTCAACTCCCCTTTATTGCCGGCCTTATCTTTGACAAGTCCACAGAAGCCGGGGGGGTAGCTTTGCCGTACCCTTCCTTGTCACTGCAGTGTCTGGCACAAGTTATTCCTGGCAGGAAGCAGCTACTAAGCCTTTCCTGTCTACATTACAGAAGCATTACCTTCATCAAAGGGCTGGATGTCAGTAGTTTGACTATAAAACTAGCCATGCAACAGCAACATTTCTATAATCCAAAGACTTGTTGCAAATAATTTGCATAATGTCCTAGGTTCTAGGCCTAATCTTGCCTTTAGAACCTATGTAATGTTTGGCATTTAGCCTTTTGGTAATTCAAGTTTCCTCATTTGTGAAATGCAATCATATCATCCACTCTATATAGCTCAGGGTCATTTTAAAGATAAAATGTGGATAACTGGTATGACTGTGCTTTGAAAACATTAAAGTAGGCCAGGGGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGTCTCACAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTATAATCCCAGCTACTCATGAGGCTGAGGCAGGAGAATCGCTTAAACTCAGGAACCTGAGAGGCAGAGGTTATAGTGAGCTGATATCGCGTCATTGCACCCCAACCTGGGTGACAAGAGTGAAACTCCATCTCAAAACAAAACAAAAAACTAGGAAAAAAAAGAAAACATTACAGTAATATTTTAGAATCTAAATAAAAAGTATTCAGCTGTTTTTGAGCTACTGTCACAGGGAAATTCAGGAAGATGTTTAAAAAAAAAAATGAGCTTGTGGCCAGGCGTGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGTATGCACCTGTAATCCCAGCTACTGGGGAGGCAGAGGCAGAAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTGAGGTGAGACTGCGCCATTGCACTCCATCCTGGGCGACAAGGGCGAAACTCCACCTCAAAAAAAAAAAGAGCTTGTAAAGTGTGTGGGCCAATTTTGGTATCTTAGAATACATACAGAATAATTCAAGCGTACAATATCTTTCAGACACAATCCAGTTGTACACTCCTTCCTCCAATCAATTTCCTTCTCTTCAAAACAGGGTAATAAAACCTATCCCTAAAGACTGCACTGTAAATATATTTTATGCACATGCACTCACCTCACACATGTGTTTGTTTTGCTAGTGTTTGGTATTTAAGTGAGGTTCCTTCCTTCCCTTGATCCATGGTTTTGAATAACACACAACTCCTACTCATGCTGAATTGCAATTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGCCCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGCCGCGGTTTCGCCATGTTGCCTGGGCTGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGCCTCCCATAGTGCTGGAATTATAGGCATGAGCCACTGCGCCTGGCTTGAATTGCAATTTTTTGAATACACTTTTTAGTAGCTCCTTTTTTCAAATACCCCATAATCCCTAGATTACGTACCTGTGATATTGGACAATGCCAAAGAATCCATCGAATCCCGAACACTTTGCTCTGGTTTCAGGTCTGACAGACACTCCAGGGAATCTTCATACCACTGTGTTTCATCATGATTATACCCTGAAGCCCCATGGTCCAGTTCCAATTCCTGAAGCCTTCTACTGCTTGCAGGGCCTGGGTGGCTGCCATAAGCAGAATCGCCCAGTCCATCTTGTGACTGTGCCCAGTGCATATCAGACTGGTATTTTTTACTTGCAAGGCTCTGGTTATTTTGCTTTAACTCGGTCTTACTTTTAACCATGTTATCAGATATCCAGTGCTCACTGGCTCGAATATCCATCTCATTGGGCTGTGGCTGAAAGAGGCTTTTATCACCAAACTTGAGGAGGAGCTGCGTCATATAATCTTCATGATCAGCCCATTCTTCAGGGTCTTCTGGAGTTTCCTGCTCTACTCTGCCTTTCCAAAATTCTTCACTGGCAAAACTTGTTCCTTGTCTGGAGAGACTCAGATCATCCAATTTTCGAGAAAGGGTGTCATCAGCATTGCCTGAGAGGCCAGGAAACTTGTAGTTCAGAGCAGGCGATAAGAGGAGAGACTGTCTACACTGATCTGCTGACCGGCTGCTCTTGCCCATTCGGACACTTCTTCGGGAGTCTCTTGATCGAGCTGACTGAAATGCAGAGTCGGAAGAATCAGAGGCATGGACGTCTTCACCAAGACTGCACGTTTTTGAGCAGTAAATCTGACCCTGTTTGGGAAGGAAGGGACATCCCAACAAAGAGGCTTTACACTGGGCACAAGAAAAGCAGGCTTCCGTGGCGTGCCAGTGCTGCCCGTCATAGGTCATCTGTGCATGGTCCACACCTGTTTTGAAAAGGATAGAATAAATAACAGGTTATGGTTTAATGCCTGAAACAAGGTATAAGGAAGAAACGAAGAAAATAAATAAAGATTATGGGTATGGGGGAGCTGTGTGGGTGACACAGATATAATTAATCCTCATTCTTTGTGGATTCTGTATTTGTGAGTGTGCCTACTCATAAAAATTTATTCACAACTCCCAAACTAATATTCGCAACAGTTTCATGGTCATTCGCAGATGTGCAGAGTGGTAAAAATACGAACTGAACCAACATGCACTGATCCAGGAGATGCTCAGCTTTTTGTTTCAGCTCTCATACTGTAGACAAGTGTCCTATTTCTGGTCTATCTACTGCCGCGTTTTCTGCATTTTTGTGCTCTTTGTTGGTGAGTTTACTGTTTAAAATGGCCCCCAAGTGTAATGCTGATAATGCTGAAATGCTGTCATGTTGCTAAGGGCAAGAAGGCTGTGATGTGCCTTACAGAGAAAAGACATGTATTACGTAAGCTCCTAATCTTGAGTACGGTACCACTGGCTGTGAGTTCAATATTAATGCATCAACAATGTACATTCAATAAGGCAGTGGCTTTAAGCAAAAACACACGTGAAACAAGGTTATGTATTGATGGGTTGATGAAACTGCTGTGACCAGAGGCTCACAGGAACCTAACCCTGTATTCCCCCATGAGCAATGGTTCAGTGTTCACTAATCCAGTGTTTGCAGTAACGTCACAGAACACAACTACTGCAAGTAACAAGAATCAACTCTCTGTTCATTTGTCAAAGCTCATCAGCTGGAACATTTAAGATCTGTACATTTCATTGTATGTAAATTATATCTCAACTTTAAAAAACAGAAAAAGAAAAAATAAGACTGGATAATCCAAGACAGACTAATGGCTAGGTGACAGGGCAGACGGGCTGGCTGTGGACTTACCAATATGTTCCCCACAGGTTTCACAGTACTCCGCATAGAGAGACTCAAAACAGCCACAGCAGAAGGGGCGGCCGTCCTTCATGATATACCTCTGTCCTCCCAGGACCGTTTCACACTCAAGGCAGCAGAAGTGTTTCATGTGCCAATGGCGACCCTCAGCTTCTGTGCACTCATCAGCAAAAATTATCTTCAAAAAGAAATGTGAAACCAGAGAATGAAAGAAAATCATTAGGAACTATTTTAAAGGCCAAGTAACTGCATGTTTTCCGGGCAATGGACAGACACTGGCTCTTAAAAAAATCAGATAGCTAACCTTGTTTCTTAGAGTCACAAGCTTAAATCTAACACTTGATTTAGCTACAAACTAGAGCATAAATTGACAGTGCTGAGAAAACAAACTAAATAATAAATGCTTGCTTTGACTTTAAAAAAACAGAATTCTACACCGGAGGTAATTCATTTGGTCATATTTTT
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Task1_train_17304
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This is a variant in VDR (vitamin D receptor), located on Chromosome 12. Is this mutation a likely cause of disease or not?
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Pathogenic; Vitamin D-dependent rickets type II with alopecia
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TAGTTATATATGCTTGGGTGAGTCACGCCCTCCTCTGTCAGTTTTCCTGAATGAGGGGATTGACTCGTTTAGCAACTTACAAGTGTTTTCTCCCACTGAAGAGCAAGCTGGACCAATACGTTCTGCAGCTAAAATCAAACAAGGGTCTCTCCCTAGACCCTTGTAAAATAACAACAGCAATAATAATTAATGTACAGAAGTTTCACAATGTAAGTTCTCCCCCCATAAATATCTCCAAATCAGTGGTACCTGCTACCCTGTATATTAGACTATAATACAAATGGAGTCTGAGTCTGAAAACAACTCATATCTAATAAATTTAAGATTAAGCGATATATATGCTATTCTGCAGTAAGGAACGTGGCTTTCAGATGTTTTTCCACCTGAAGAATTCTGAGAGACATGGGGCCAGGTGGACACCAAGGCTCTTGCAGTGTGAAGTCTGATTCCTCTCTGGGTTTTCAGGGAACTACGGATGCAGGTGCAAGGACACAGCTTCCAGGAGTTGGGGCAGTCACGTTCCCACTGACTTTAACATTCCTGGTGACTCAGGGAATGCGGCCGCATTCCCCAAACTCAAGCACTGATCTGAAGAAGCCTCTGTGATCCACCTCGAAGAACGCCTTTCTGTACCGGTCCCGCACACCTACAGCTCACTCTCACAAAGACCCCACCTTGGAGTAAACGGACAGACGCTTCCCACCAGCTGGGCTGGGCTGGCTGCAGAGAGCATGCACTTGAAGTTGTATCACTCCGCCCCTGCCTCACAGGCACCTTTTGACTTTTGGGTGGTGGAGTGAGAATAAGAAGGCACCTTACCCTACATCACGGAACCCCCAAACACTCTCTCTGACTAGCCACCCGAGACTGCCCCGCTCTCCCTTCCCACACTCTGGGGTGCGGCAGCGCTAGCTCTTAGCCCTGTGGGTGAACAGCGGCCTTGCAACCACATTGAGGCGGCAGGGAGATCATGACTCAGCCGCTGGGGTCTGAAAATTCTTCTCCTCCATCCCACCCTGCCAGATGGAGAAGATGCGGCTCACTGCTTCTCCAGACCCTCTCCCCTGGGGAGGGGGTGGGGGAGCAGGCTCTCGGCTACTCTCGGTGATCCGAGGAGGACAGGGAGGGCTGGCTCTCCTGGGCAGGAGGTAAGGCACTGGCAGGGGGAGGACGAGGTCGGCAGGTGCTTTTCTGCAAACTGGGGACAATTCAGTCCTGCTACATGGATCCGTGGAAGGAGGGCTTCCACCTCAACCAACCCCTTAGACCCAGGGCGAGGAACTGTGAGCTTGGTGACAGGGACAGCTGTCATATTCTTCTGTGAGGCTGTTTTTGTCTGTTTTTCCTCCTTGGGTCTCTCAGCAGGTGGGTTCGTGCCTGGTGCTCCAGTGATGGGAAGAAAACCCACCTCACCACAGCTACTGCCCGTGAGAATATAACCAGGGCAATGGGATGTTGGTGGGCACTGAAGGGGGTGGGGTGGGAGCTGTGGGCCGATTATTTATCGTGAGTAGGCAGGAGAGGGAGACCCCACTAGGCGCTGGACAAGCGGGGCCTGCAGTGGGGGGAGGTGCAGGTGTCTCTGTCCCTGAGGAATGGATGCATTTCTCCTGTCTGTTCCCTCAACATCAGTCAGCAGCCACTTAGGCAGCGGTGGAGGCATCTCTGGGCAAGGCCCTGCCTCCAGCCTCTGCCCTCTGCCCCCACTTGGGTTTCTTTGTCAAACAAACAGCAACTCCTCATGGCTGAGGTCTCAAGGGACCGGGGAAAAGCCCGCAGGAAAGGGGTTAGGTTGGACAGGAGAGAGAATGGGCTGGGTGGATAGGGGAGGTGGCAGAGGAGGGGCTGAACCCCAGACGGGGTGAGGAGGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCACGGGGATAGAGAAGAAGGCACAGGAGCTCTCAGCTGGGCCCCTCACTGCTCAATCCCACCACCCCCCACCCACACAGACACTCAACGGCAGCACCCCCTAGGCCACCCCTCTATGACTGCTGACCGGTGATACCACTGCCTGGCCCCAAAGCCCTCCAGTGACTTCTCCGTGCATTTAGGATCCAGACCTAGGTCCTTCCATGGGCGCACCTGGCCCTGTCCCTGCCTGGCCTTGCTCCCTGTCCATGCTCTGTCCATCCCTCAGCGTCCCGATGCGCCATGCTCTCTGGCCACCAGCCTTCACATCTGTGCTCCCTCTGCTTGGAACTCTGCTCTGCTATCTTTGCCAGACTCTTACTGATCCTTTGGATAACAGCTTAAAAGGTCTTCCTCCAAAAGGCCATTCCTGGCAACACTCTACCTCTGTAGCCCAGACCACGTCAGCTTCCCTCCTTCTATTCTACCCTTCTGTAGCATCACTTACTTTATTTTTAAAACTCTTGCCTTGTTAGGAATTAATAATTAAATAACATTTGTTTAATGTTTCCTCCTAAGCTTCATGGGAGAGGAGCCTGTGTCCCATTTGCTGCTGAACCCCAGTACCTAGCATAGTGCCTGGTACCTAATAGGTGCTCAATAAATTGTTGCTAAGTGGATGAATGAATGAGAGAAGGCTGGCTGGGCAGGGGTAGAGGAGCCCATCTCCATTCCTTGAGCCTCCAGTCCAGGAAAGCATCCCTGGGCACAGGCCACTAGCACAGGCTGAGGCAGGGCCGCCCCTCTTTGGACCTCATCACCGACATCATGTCCCCAAGGTCACAATAACTTCCTCTTCGGCCTTTTCTCCCTCTTCTCACCTCTAACCAGCGGAAGAGGTCAAGGGTCACTGCACATTGCCTCCAAAATCAATCAGGTAAACTATATAGGCAGAACCATCTCTCAGGCTCCAAAGTTTTGTACCCTGCCCGCAAGAAACCTCAAATAACAGGAATGTTGAGCCCAGTTCACGCAAGAGCAGAGCCTGAGTATTGGGAATGCGCAGGCCTGTCTGTGGCCCCAGGAACCCTGCTTATCTAGTTCCTCAGAATCCCCCCTACGAATCGCCTGCACACTCTGCAAGGCAGAGCTAAGGGCAGTGAGGGGCACCTCAGCGTCCACACACCACAGGGGCTCTGCAAACCAGCAAAGTAGGTATTTCCTTATCTGTGTCTCCTTTTGCTACGTCTCCCTTCAGGTTGCCCAGCTGGCCCTCAGCAGGTCTTTGTCCTTCATACTCCCCGCTCCCCAGGTCCCTGAGCTCCTCCCTGCCTGGCCCCATACCTGGGGAGACGATGCAGATGGCCATGAGCAGGACATGCTCCTCCTCATGCAAGTTCAGCTTCTTCAGTCCCACCTGGAACTTGATGAGGGGCTCAATCAGCTCCAGGCTGTGTCCGGCTGTGAGAGACAATGGCCAGGTACTGCGGGCAGAGCTGAGGAGCCGCCCACCCACCTCCAACCCCATGGGTCTGACCCTCGCCCTTCTCTCCCTGTTGGTGCCTAACTCCCTCCCATGTATCTGATTGGAGCCAAACCCCAGGACGGGTGGAGCCAGAATCTGGGAGCTGAAAAAGACTCCCCAGGAGGTGGAGTCTAGGCATACCTTTGGTCACGTCACTGACGCGGTACTTGTAGTCTTGGTTGCCACAGGTCCAGGACATGTCGTCCATGGTGAAGGACTCATTGGAGCGCAACATGATGACCTCAATGGCACTTGACTTCAGCAGTACGATCTGGTCCTCAGAGGTGAGGTCTCTGCAGGGGAGGGAGGGAAGGAGGTCAGGTTACCAGTAAACGCCTTCAAGCCACACAAATCAGTTTAGTGCTTTGACAG
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TAGTTATATATGCTTGGGTGAGTCACGCCCTCCTCTGTCAGTTTTCCTGAATGAGGGGATTGACTCGTTTAGCAACTTACAAGTGTTTTCTCCCACTGAAGAGCAAGCTGGACCAATACGTTCTGCAGCTAAAATCAAACAAGGGTCTCTCCCTAGACCCTTGTAAAATAACAACAGCAATAATAATTAATGTACAGAAGTTTCACAATGTAAGTTCTCCCCCCATAAATATCTCCAAATCAGTGGTACCTGCTACCCTGTATATTAGACTATAATACAAATGGAGTCTGAGTCTGAAAACAACTCATATCTAATAAATTTAAGATTAAGCGATATATATGCTATTCTGCAGTAAGGAACGTGGCTTTCAGATGTTTTTCCACCTGAAGAATTCTGAGAGACATGGGGCCAGGTGGACACCAAGGCTCTTGCAGTGTGAAGTCTGATTCCTCTCTGGGTTTTCAGGGAACTACGGATGCAGGTGCAAGGACACAGCTTCCAGGAGTTGGGGCAGTCACGTTCCCACTGACTTTAACATTCCTGGTGACTCAGGGAATGCGGCCGCATTCCCCAAACTCAAGCACTGATCTGAAGAAGCCTCTGTGATCCACCTCGAAGAACGCCTTTCTGTACCGGTCCCGCACACCTACAGCTCACTCTCACAAAGACCCCACCTTGGAGTAAACGGACAGACGCTTCCCACCAGCTGGGCTGGGCTGGCTGCAGAGAGCATGCACTTGAAGTTGTATCACTCCGCCCCTGCCTCACAGGCACCTTTTGACTTTTGGGTGGTGGAGTGAGAATAAGAAGGCACCTTACCCTACATCACGGAACCCCCAAACACTCTCTCTGACTAGCCACCCGAGACTGCCCCGCTCTCCCTTCCCACACTCTGGGGTGCGGCAGCGCTAGCTCTTAGCCCTGTGGGTGAACAGCGGCCTTGCAACCACATTGAGGCGGCAGGGAGATCATGACTCAGCCGCTGGGGTCTGAAAATTCTTCTCCTCCATCCCACCCTGCCAGATGGAGAAGATGCGGCTCACTGCTTCTCCAGACCCTCTCCCCTGGGGAGGGGGTGGGGGAGCAGGCTCTCGGCTACTCTCGGTGATCCGAGGAGGACAGGGAGGGCTGGCTCTCCTGGGCAGGAGGTAAGGCACTGGCAGGGGGAGGACGAGGTCGGCAGGTGCTTTTCTGCAAACTGGGGACAATTCAGTCCTGCTACATGGATCCGTGGAAGGAGGGCTTCCACCTCAACCAACCCCTTAGACCCAGGGCGAGGAACTGTGAGCTTGGTGACAGGGACAGCTGTCATATTCTTCTGTGAGGCTGTTTTTGTCTGTTTTTCCTCCTTGGGTCTCTCAGCAGGTGGGTTCGTGCCTGGTGCTCCAGTGATGGGAAGAAAACCCACCTCACCACAGCTACTGCCCGTGAGAATATAACCAGGGCAATGGGATGTTGGTGGGCACTGAAGGGGGTGGGGTGGGAGCTGTGGGCCGATTATTTATCGTGAGTAGGCAGGAGAGGGAGACCCCACTAGGCGCTGGACAAGCGGGGCCTGCAGTGGGGGGAGGTGCAGGTGTCTCTGTCCCTGAGGAATGGATGCATTTCTCCTGTCTGTTCCCTCAACATCAGTCAGCAGCCACTTAGGCAGCGGTGGAGGCATCTCTGGGCAAGGCCCTGCCTCCAGCCTCTGCCCTCTGCCCCCACTTGGGTTTCTTTGTCAAACAAACAGCAACTCCTCATGGCTGAGGTCTCAAGGGACCGGGGAAAAGCCCGCAGGAAAGGGGTTAGGTTGGACAGGAGAGAGAATGGGCTGGGTGGATAGGGGAGGTGGCAGAGGAGGGGCTGAACCCCAGACGGGGTGAGGAGGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGGGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCACGGGGATAGAGAAGAAGGCACAGGAGCTCTCAGCTGGGCCCCTCACTGCTCAATCCCACCACCCCCCACCCACACAGACACTCAACGGCAGCACCCCCTAGGCCACCCCTCTATGACTGCTGACCGGTGATACCACTGCCTGGCCCCAAAGCCCTCCAGTGACTTCTCCGTGCATTTAGGATCCAGACCTAGGTCCTTCCATGGGCGCACCTGGCCCTGTCCCTGCCTGGCCTTGCTCCCTGTCCATGCTCTGTCCATCCCTCAGCGTCCCGATGCGCCATGCTCTCTGGCCACCAGCCTTCACATCTGTGCTCCCTCTGCTTGGAACTCTGCTCTGCTATCTTTGCCAGACTCTTACTGATCCTTTGGATAACAGCTTAAAAGGTCTTCCTCCAAAAGGCCATTCCTGGCAACACTCTACCTCTGTAGCCCAGACCACGTCAGCTTCCCTCCTTCTATTCTACCCTTCTGTAGCATCACTTACTTTATTTTTAAAACTCTTGCCTTGTTAGGAATTAATAATTAAATAACATTTGTTTAATGTTTCCTCCTAAGCTTCATGGGAGAGGAGCCTGTGTCCCATTTGCTGCTGAACCCCAGTACCTAGCATAGTGCCTGGTACCTAATAGGTGCTCAATAAATTGTTGCTAAGTGGATGAATGAATGAGAGAAGGCTGGCTGGGCAGGGGTAGAGGAGCCCATCTCCATTCCTTGAGCCTCCAGTCCAGGAAAGCATCCCTGGGCACAGGCCACTAGCACAGGCTGAGGCAGGGCCGCCCCTCTTTGGACCTCATCACCGACATCATGTCCCCAAGGTCACAATAACTTCCTCTTCGGCCTTTTCTCCCTCTTCTCACCTCTAACCAGCGGAAGAGGTCAAGGGTCACTGCACATTGCCTCCAAAATCAATCAGGTAAACTATATAGGCAGAACCATCTCTCAGGCTCCAAAGTTTTGTACCCTGCCCGCAAGAAACCTCAAATAACAGGAATGTTGAGCCCAGTTCACGCAAGAGCAGAGCCTGAGTATTGGGAATGCGCAGGCCTGTCTGTGGCCCCAGGAACCCTGCTTATCTAGTTCCTCAGAATCCCCCCTACGAATCGCCTGCACACTCTGCAAGGCAGAGCTAAGGGCAGTGAGGGGCACCTCAGCGTCCACACACCACAGGGGCTCTGCAAACCAGCAAAGTAGGTATTTCCTTATCTGTGTCTCCTTTTGCTACGTCTCCCTTCAGGTTGCCCAGCTGGCCCTCAGCAGGTCTTTGTCCTTCATACTCCCCGCTCCCCAGGTCCCTGAGCTCCTCCCTGCCTGGCCCCATACCTGGGGAGACGATGCAGATGGCCATGAGCAGGACATGCTCCTCCTCATGCAAGTTCAGCTTCTTCAGTCCCACCTGGAACTTGATGAGGGGCTCAATCAGCTCCAGGCTGTGTCCGGCTGTGAGAGACAATGGCCAGGTACTGCGGGCAGAGCTGAGGAGCCGCCCACCCACCTCCAACCCCATGGGTCTGACCCTCGCCCTTCTCTCCCTGTTGGTGCCTAACTCCCTCCCATGTATCTGATTGGAGCCAAACCCCAGGACGGGTGGAGCCAGAATCTGGGAGCTGAAAAAGACTCCCCAGGAGGTGGAGTCTAGGCATACCTTTGGTCACGTCACTGACGCGGTACTTGTAGTCTTGGTTGCCACAGGTCCAGGACATGTCGTCCATGGTGAAGGACTCATTGGAGCGCAACATGATGACCTCAATGGCACTTGACTTCAGCAGTACGATCTGGTCCTCAGAGGTGAGGTCTCTGCAGGGGAGGGAGGGAAGGAGGTCAGGTTACCAGTAAACGCCTTCAAGCCACACAAATCAGTTTAGTGCTTTGACAG
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Task1_train_17305
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A variant was discovered on Chromosome 12, affecting VDR (vitamin D receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Vitamin D-dependent rickets type II with alopecia
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TGAGTCACGCCCTCCTCTGTCAGTTTTCCTGAATGAGGGGATTGACTCGTTTAGCAACTTACAAGTGTTTTCTCCCACTGAAGAGCAAGCTGGACCAATACGTTCTGCAGCTAAAATCAAACAAGGGTCTCTCCCTAGACCCTTGTAAAATAACAACAGCAATAATAATTAATGTACAGAAGTTTCACAATGTAAGTTCTCCCCCCATAAATATCTCCAAATCAGTGGTACCTGCTACCCTGTATATTAGACTATAATACAAATGGAGTCTGAGTCTGAAAACAACTCATATCTAATAAATTTAAGATTAAGCGATATATATGCTATTCTGCAGTAAGGAACGTGGCTTTCAGATGTTTTTCCACCTGAAGAATTCTGAGAGACATGGGGCCAGGTGGACACCAAGGCTCTTGCAGTGTGAAGTCTGATTCCTCTCTGGGTTTTCAGGGAACTACGGATGCAGGTGCAAGGACACAGCTTCCAGGAGTTGGGGCAGTCACGTTCCCACTGACTTTAACATTCCTGGTGACTCAGGGAATGCGGCCGCATTCCCCAAACTCAAGCACTGATCTGAAGAAGCCTCTGTGATCCACCTCGAAGAACGCCTTTCTGTACCGGTCCCGCACACCTACAGCTCACTCTCACAAAGACCCCACCTTGGAGTAAACGGACAGACGCTTCCCACCAGCTGGGCTGGGCTGGCTGCAGAGAGCATGCACTTGAAGTTGTATCACTCCGCCCCTGCCTCACAGGCACCTTTTGACTTTTGGGTGGTGGAGTGAGAATAAGAAGGCACCTTACCCTACATCACGGAACCCCCAAACACTCTCTCTGACTAGCCACCCGAGACTGCCCCGCTCTCCCTTCCCACACTCTGGGGTGCGGCAGCGCTAGCTCTTAGCCCTGTGGGTGAACAGCGGCCTTGCAACCACATTGAGGCGGCAGGGAGATCATGACTCAGCCGCTGGGGTCTGAAAATTCTTCTCCTCCATCCCACCCTGCCAGATGGAGAAGATGCGGCTCACTGCTTCTCCAGACCCTCTCCCCTGGGGAGGGGGTGGGGGAGCAGGCTCTCGGCTACTCTCGGTGATCCGAGGAGGACAGGGAGGGCTGGCTCTCCTGGGCAGGAGGTAAGGCACTGGCAGGGGGAGGACGAGGTCGGCAGGTGCTTTTCTGCAAACTGGGGACAATTCAGTCCTGCTACATGGATCCGTGGAAGGAGGGCTTCCACCTCAACCAACCCCTTAGACCCAGGGCGAGGAACTGTGAGCTTGGTGACAGGGACAGCTGTCATATTCTTCTGTGAGGCTGTTTTTGTCTGTTTTTCCTCCTTGGGTCTCTCAGCAGGTGGGTTCGTGCCTGGTGCTCCAGTGATGGGAAGAAAACCCACCTCACCACAGCTACTGCCCGTGAGAATATAACCAGGGCAATGGGATGTTGGTGGGCACTGAAGGGGGTGGGGTGGGAGCTGTGGGCCGATTATTTATCGTGAGTAGGCAGGAGAGGGAGACCCCACTAGGCGCTGGACAAGCGGGGCCTGCAGTGGGGGGAGGTGCAGGTGTCTCTGTCCCTGAGGAATGGATGCATTTCTCCTGTCTGTTCCCTCAACATCAGTCAGCAGCCACTTAGGCAGCGGTGGAGGCATCTCTGGGCAAGGCCCTGCCTCCAGCCTCTGCCCTCTGCCCCCACTTGGGTTTCTTTGTCAAACAAACAGCAACTCCTCATGGCTGAGGTCTCAAGGGACCGGGGAAAAGCCCGCAGGAAAGGGGTTAGGTTGGACAGGAGAGAGAATGGGCTGGGTGGATAGGGGAGGTGGCAGAGGAGGGGCTGAACCCCAGACGGGGTGAGGAGGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCACGGGGATAGAGAAGAAGGCACAGGAGCTCTCAGCTGGGCCCCTCACTGCTCAATCCCACCACCCCCCACCCACACAGACACTCAACGGCAGCACCCCCTAGGCCACCCCTCTATGACTGCTGACCGGTGATACCACTGCCTGGCCCCAAAGCCCTCCAGTGACTTCTCCGTGCATTTAGGATCCAGACCTAGGTCCTTCCATGGGCGCACCTGGCCCTGTCCCTGCCTGGCCTTGCTCCCTGTCCATGCTCTGTCCATCCCTCAGCGTCCCGATGCGCCATGCTCTCTGGCCACCAGCCTTCACATCTGTGCTCCCTCTGCTTGGAACTCTGCTCTGCTATCTTTGCCAGACTCTTACTGATCCTTTGGATAACAGCTTAAAAGGTCTTCCTCCAAAAGGCCATTCCTGGCAACACTCTACCTCTGTAGCCCAGACCACGTCAGCTTCCCTCCTTCTATTCTACCCTTCTGTAGCATCACTTACTTTATTTTTAAAACTCTTGCCTTGTTAGGAATTAATAATTAAATAACATTTGTTTAATGTTTCCTCCTAAGCTTCATGGGAGAGGAGCCTGTGTCCCATTTGCTGCTGAACCCCAGTACCTAGCATAGTGCCTGGTACCTAATAGGTGCTCAATAAATTGTTGCTAAGTGGATGAATGAATGAGAGAAGGCTGGCTGGGCAGGGGTAGAGGAGCCCATCTCCATTCCTTGAGCCTCCAGTCCAGGAAAGCATCCCTGGGCACAGGCCACTAGCACAGGCTGAGGCAGGGCCGCCCCTCTTTGGACCTCATCACCGACATCATGTCCCCAAGGTCACAATAACTTCCTCTTCGGCCTTTTCTCCCTCTTCTCACCTCTAACCAGCGGAAGAGGTCAAGGGTCACTGCACATTGCCTCCAAAATCAATCAGGTAAACTATATAGGCAGAACCATCTCTCAGGCTCCAAAGTTTTGTACCCTGCCCGCAAGAAACCTCAAATAACAGGAATGTTGAGCCCAGTTCACGCAAGAGCAGAGCCTGAGTATTGGGAATGCGCAGGCCTGTCTGTGGCCCCAGGAACCCTGCTTATCTAGTTCCTCAGAATCCCCCCTACGAATCGCCTGCACACTCTGCAAGGCAGAGCTAAGGGCAGTGAGGGGCACCTCAGCGTCCACACACCACAGGGGCTCTGCAAACCAGCAAAGTAGGTATTTCCTTATCTGTGTCTCCTTTTGCTACGTCTCCCTTCAGGTTGCCCAGCTGGCCCTCAGCAGGTCTTTGTCCTTCATACTCCCCGCTCCCCAGGTCCCTGAGCTCCTCCCTGCCTGGCCCCATACCTGGGGAGACGATGCAGATGGCCATGAGCAGGACATGCTCCTCCTCATGCAAGTTCAGCTTCTTCAGTCCCACCTGGAACTTGATGAGGGGCTCAATCAGCTCCAGGCTGTGTCCGGCTGTGAGAGACAATGGCCAGGTACTGCGGGCAGAGCTGAGGAGCCGCCCACCCACCTCCAACCCCATGGGTCTGACCCTCGCCCTTCTCTCCCTGTTGGTGCCTAACTCCCTCCCATGTATCTGATTGGAGCCAAACCCCAGGACGGGTGGAGCCAGAATCTGGGAGCTGAAAAAGACTCCCCAGGAGGTGGAGTCTAGGCATACCTTTGGTCACGTCACTGACGCGGTACTTGTAGTCTTGGTTGCCACAGGTCCAGGACATGTCGTCCATGGTGAAGGACTCATTGGAGCGCAACATGATGACCTCAATGGCACTTGACTTCAGCAGTACGATCTGGTCCTCAGAGGTGAGGTCTCTGCAGGGGAGGGAGGGAAGGAGGTCAGGTTACCAGTAAACGCCTTCAAGCCACACAAATCAGTTTAGTGCTTTGACAGGTATACACCTGCTGGGCA
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TGAGTCACGCCCTCCTCTGTCAGTTTTCCTGAATGAGGGGATTGACTCGTTTAGCAACTTACAAGTGTTTTCTCCCACTGAAGAGCAAGCTGGACCAATACGTTCTGCAGCTAAAATCAAACAAGGGTCTCTCCCTAGACCCTTGTAAAATAACAACAGCAATAATAATTAATGTACAGAAGTTTCACAATGTAAGTTCTCCCCCCATAAATATCTCCAAATCAGTGGTACCTGCTACCCTGTATATTAGACTATAATACAAATGGAGTCTGAGTCTGAAAACAACTCATATCTAATAAATTTAAGATTAAGCGATATATATGCTATTCTGCAGTAAGGAACGTGGCTTTCAGATGTTTTTCCACCTGAAGAATTCTGAGAGACATGGGGCCAGGTGGACACCAAGGCTCTTGCAGTGTGAAGTCTGATTCCTCTCTGGGTTTTCAGGGAACTACGGATGCAGGTGCAAGGACACAGCTTCCAGGAGTTGGGGCAGTCACGTTCCCACTGACTTTAACATTCCTGGTGACTCAGGGAATGCGGCCGCATTCCCCAAACTCAAGCACTGATCTGAAGAAGCCTCTGTGATCCACCTCGAAGAACGCCTTTCTGTACCGGTCCCGCACACCTACAGCTCACTCTCACAAAGACCCCACCTTGGAGTAAACGGACAGACGCTTCCCACCAGCTGGGCTGGGCTGGCTGCAGAGAGCATGCACTTGAAGTTGTATCACTCCGCCCCTGCCTCACAGGCACCTTTTGACTTTTGGGTGGTGGAGTGAGAATAAGAAGGCACCTTACCCTACATCACGGAACCCCCAAACACTCTCTCTGACTAGCCACCCGAGACTGCCCCGCTCTCCCTTCCCACACTCTGGGGTGCGGCAGCGCTAGCTCTTAGCCCTGTGGGTGAACAGCGGCCTTGCAACCACATTGAGGCGGCAGGGAGATCATGACTCAGCCGCTGGGGTCTGAAAATTCTTCTCCTCCATCCCACCCTGCCAGATGGAGAAGATGCGGCTCACTGCTTCTCCAGACCCTCTCCCCTGGGGAGGGGGTGGGGGAGCAGGCTCTCGGCTACTCTCGGTGATCCGAGGAGGACAGGGAGGGCTGGCTCTCCTGGGCAGGAGGTAAGGCACTGGCAGGGGGAGGACGAGGTCGGCAGGTGCTTTTCTGCAAACTGGGGACAATTCAGTCCTGCTACATGGATCCGTGGAAGGAGGGCTTCCACCTCAACCAACCCCTTAGACCCAGGGCGAGGAACTGTGAGCTTGGTGACAGGGACAGCTGTCATATTCTTCTGTGAGGCTGTTTTTGTCTGTTTTTCCTCCTTGGGTCTCTCAGCAGGTGGGTTCGTGCCTGGTGCTCCAGTGATGGGAAGAAAACCCACCTCACCACAGCTACTGCCCGTGAGAATATAACCAGGGCAATGGGATGTTGGTGGGCACTGAAGGGGGTGGGGTGGGAGCTGTGGGCCGATTATTTATCGTGAGTAGGCAGGAGAGGGAGACCCCACTAGGCGCTGGACAAGCGGGGCCTGCAGTGGGGGGAGGTGCAGGTGTCTCTGTCCCTGAGGAATGGATGCATTTCTCCTGTCTGTTCCCTCAACATCAGTCAGCAGCCACTTAGGCAGCGGTGGAGGCATCTCTGGGCAAGGCCCTGCCTCCAGCCTCTGCCCTCTGCCCCCACTTGGGTTTCTTTGTCAAACAAACAGCAACTCCTCATGGCTGAGGTCTCAAGGGACCGGGGAAAAGCCCGCAGGAAAGGGGTTAGGTTGGACAGGAGAGAGAATGGGCTGGGTGGATAGGGGAGGTGGCAGAGGAGGGGCTGAACCCCAGACGGGGTGAGGAGGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGTGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCACGGGGATAGAGAAGAAGGCACAGGAGCTCTCAGCTGGGCCCCTCACTGCTCAATCCCACCACCCCCCACCCACACAGACACTCAACGGCAGCACCCCCTAGGCCACCCCTCTATGACTGCTGACCGGTGATACCACTGCCTGGCCCCAAAGCCCTCCAGTGACTTCTCCGTGCATTTAGGATCCAGACCTAGGTCCTTCCATGGGCGCACCTGGCCCTGTCCCTGCCTGGCCTTGCTCCCTGTCCATGCTCTGTCCATCCCTCAGCGTCCCGATGCGCCATGCTCTCTGGCCACCAGCCTTCACATCTGTGCTCCCTCTGCTTGGAACTCTGCTCTGCTATCTTTGCCAGACTCTTACTGATCCTTTGGATAACAGCTTAAAAGGTCTTCCTCCAAAAGGCCATTCCTGGCAACACTCTACCTCTGTAGCCCAGACCACGTCAGCTTCCCTCCTTCTATTCTACCCTTCTGTAGCATCACTTACTTTATTTTTAAAACTCTTGCCTTGTTAGGAATTAATAATTAAATAACATTTGTTTAATGTTTCCTCCTAAGCTTCATGGGAGAGGAGCCTGTGTCCCATTTGCTGCTGAACCCCAGTACCTAGCATAGTGCCTGGTACCTAATAGGTGCTCAATAAATTGTTGCTAAGTGGATGAATGAATGAGAGAAGGCTGGCTGGGCAGGGGTAGAGGAGCCCATCTCCATTCCTTGAGCCTCCAGTCCAGGAAAGCATCCCTGGGCACAGGCCACTAGCACAGGCTGAGGCAGGGCCGCCCCTCTTTGGACCTCATCACCGACATCATGTCCCCAAGGTCACAATAACTTCCTCTTCGGCCTTTTCTCCCTCTTCTCACCTCTAACCAGCGGAAGAGGTCAAGGGTCACTGCACATTGCCTCCAAAATCAATCAGGTAAACTATATAGGCAGAACCATCTCTCAGGCTCCAAAGTTTTGTACCCTGCCCGCAAGAAACCTCAAATAACAGGAATGTTGAGCCCAGTTCACGCAAGAGCAGAGCCTGAGTATTGGGAATGCGCAGGCCTGTCTGTGGCCCCAGGAACCCTGCTTATCTAGTTCCTCAGAATCCCCCCTACGAATCGCCTGCACACTCTGCAAGGCAGAGCTAAGGGCAGTGAGGGGCACCTCAGCGTCCACACACCACAGGGGCTCTGCAAACCAGCAAAGTAGGTATTTCCTTATCTGTGTCTCCTTTTGCTACGTCTCCCTTCAGGTTGCCCAGCTGGCCCTCAGCAGGTCTTTGTCCTTCATACTCCCCGCTCCCCAGGTCCCTGAGCTCCTCCCTGCCTGGCCCCATACCTGGGGAGACGATGCAGATGGCCATGAGCAGGACATGCTCCTCCTCATGCAAGTTCAGCTTCTTCAGTCCCACCTGGAACTTGATGAGGGGCTCAATCAGCTCCAGGCTGTGTCCGGCTGTGAGAGACAATGGCCAGGTACTGCGGGCAGAGCTGAGGAGCCGCCCACCCACCTCCAACCCCATGGGTCTGACCCTCGCCCTTCTCTCCCTGTTGGTGCCTAACTCCCTCCCATGTATCTGATTGGAGCCAAACCCCAGGACGGGTGGAGCCAGAATCTGGGAGCTGAAAAAGACTCCCCAGGAGGTGGAGTCTAGGCATACCTTTGGTCACGTCACTGACGCGGTACTTGTAGTCTTGGTTGCCACAGGTCCAGGACATGTCGTCCATGGTGAAGGACTCATTGGAGCGCAACATGATGACCTCAATGGCACTTGACTTCAGCAGTACGATCTGGTCCTCAGAGGTGAGGTCTCTGCAGGGGAGGGAGGGAAGGAGGTCAGGTTACCAGTAAACGCCTTCAAGCCACACAAATCAGTTTAGTGCTTTGACAGGTATACACCTGCTGGGCA
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Task1_train_17306
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The gene VDR (vitamin D receptor), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Vitamin D-dependent rickets type II with alopecia
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GAGTCACGCCCTCCTCTGTCAGTTTTCCTGAATGAGGGGATTGACTCGTTTAGCAACTTACAAGTGTTTTCTCCCACTGAAGAGCAAGCTGGACCAATACGTTCTGCAGCTAAAATCAAACAAGGGTCTCTCCCTAGACCCTTGTAAAATAACAACAGCAATAATAATTAATGTACAGAAGTTTCACAATGTAAGTTCTCCCCCCATAAATATCTCCAAATCAGTGGTACCTGCTACCCTGTATATTAGACTATAATACAAATGGAGTCTGAGTCTGAAAACAACTCATATCTAATAAATTTAAGATTAAGCGATATATATGCTATTCTGCAGTAAGGAACGTGGCTTTCAGATGTTTTTCCACCTGAAGAATTCTGAGAGACATGGGGCCAGGTGGACACCAAGGCTCTTGCAGTGTGAAGTCTGATTCCTCTCTGGGTTTTCAGGGAACTACGGATGCAGGTGCAAGGACACAGCTTCCAGGAGTTGGGGCAGTCACGTTCCCACTGACTTTAACATTCCTGGTGACTCAGGGAATGCGGCCGCATTCCCCAAACTCAAGCACTGATCTGAAGAAGCCTCTGTGATCCACCTCGAAGAACGCCTTTCTGTACCGGTCCCGCACACCTACAGCTCACTCTCACAAAGACCCCACCTTGGAGTAAACGGACAGACGCTTCCCACCAGCTGGGCTGGGCTGGCTGCAGAGAGCATGCACTTGAAGTTGTATCACTCCGCCCCTGCCTCACAGGCACCTTTTGACTTTTGGGTGGTGGAGTGAGAATAAGAAGGCACCTTACCCTACATCACGGAACCCCCAAACACTCTCTCTGACTAGCCACCCGAGACTGCCCCGCTCTCCCTTCCCACACTCTGGGGTGCGGCAGCGCTAGCTCTTAGCCCTGTGGGTGAACAGCGGCCTTGCAACCACATTGAGGCGGCAGGGAGATCATGACTCAGCCGCTGGGGTCTGAAAATTCTTCTCCTCCATCCCACCCTGCCAGATGGAGAAGATGCGGCTCACTGCTTCTCCAGACCCTCTCCCCTGGGGAGGGGGTGGGGGAGCAGGCTCTCGGCTACTCTCGGTGATCCGAGGAGGACAGGGAGGGCTGGCTCTCCTGGGCAGGAGGTAAGGCACTGGCAGGGGGAGGACGAGGTCGGCAGGTGCTTTTCTGCAAACTGGGGACAATTCAGTCCTGCTACATGGATCCGTGGAAGGAGGGCTTCCACCTCAACCAACCCCTTAGACCCAGGGCGAGGAACTGTGAGCTTGGTGACAGGGACAGCTGTCATATTCTTCTGTGAGGCTGTTTTTGTCTGTTTTTCCTCCTTGGGTCTCTCAGCAGGTGGGTTCGTGCCTGGTGCTCCAGTGATGGGAAGAAAACCCACCTCACCACAGCTACTGCCCGTGAGAATATAACCAGGGCAATGGGATGTTGGTGGGCACTGAAGGGGGTGGGGTGGGAGCTGTGGGCCGATTATTTATCGTGAGTAGGCAGGAGAGGGAGACCCCACTAGGCGCTGGACAAGCGGGGCCTGCAGTGGGGGGAGGTGCAGGTGTCTCTGTCCCTGAGGAATGGATGCATTTCTCCTGTCTGTTCCCTCAACATCAGTCAGCAGCCACTTAGGCAGCGGTGGAGGCATCTCTGGGCAAGGCCCTGCCTCCAGCCTCTGCCCTCTGCCCCCACTTGGGTTTCTTTGTCAAACAAACAGCAACTCCTCATGGCTGAGGTCTCAAGGGACCGGGGAAAAGCCCGCAGGAAAGGGGTTAGGTTGGACAGGAGAGAGAATGGGCTGGGTGGATAGGGGAGGTGGCAGAGGAGGGGCTGAACCCCAGACGGGGTGAGGAGGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCACGGGGATAGAGAAGAAGGCACAGGAGCTCTCAGCTGGGCCCCTCACTGCTCAATCCCACCACCCCCCACCCACACAGACACTCAACGGCAGCACCCCCTAGGCCACCCCTCTATGACTGCTGACCGGTGATACCACTGCCTGGCCCCAAAGCCCTCCAGTGACTTCTCCGTGCATTTAGGATCCAGACCTAGGTCCTTCCATGGGCGCACCTGGCCCTGTCCCTGCCTGGCCTTGCTCCCTGTCCATGCTCTGTCCATCCCTCAGCGTCCCGATGCGCCATGCTCTCTGGCCACCAGCCTTCACATCTGTGCTCCCTCTGCTTGGAACTCTGCTCTGCTATCTTTGCCAGACTCTTACTGATCCTTTGGATAACAGCTTAAAAGGTCTTCCTCCAAAAGGCCATTCCTGGCAACACTCTACCTCTGTAGCCCAGACCACGTCAGCTTCCCTCCTTCTATTCTACCCTTCTGTAGCATCACTTACTTTATTTTTAAAACTCTTGCCTTGTTAGGAATTAATAATTAAATAACATTTGTTTAATGTTTCCTCCTAAGCTTCATGGGAGAGGAGCCTGTGTCCCATTTGCTGCTGAACCCCAGTACCTAGCATAGTGCCTGGTACCTAATAGGTGCTCAATAAATTGTTGCTAAGTGGATGAATGAATGAGAGAAGGCTGGCTGGGCAGGGGTAGAGGAGCCCATCTCCATTCCTTGAGCCTCCAGTCCAGGAAAGCATCCCTGGGCACAGGCCACTAGCACAGGCTGAGGCAGGGCCGCCCCTCTTTGGACCTCATCACCGACATCATGTCCCCAAGGTCACAATAACTTCCTCTTCGGCCTTTTCTCCCTCTTCTCACCTCTAACCAGCGGAAGAGGTCAAGGGTCACTGCACATTGCCTCCAAAATCAATCAGGTAAACTATATAGGCAGAACCATCTCTCAGGCTCCAAAGTTTTGTACCCTGCCCGCAAGAAACCTCAAATAACAGGAATGTTGAGCCCAGTTCACGCAAGAGCAGAGCCTGAGTATTGGGAATGCGCAGGCCTGTCTGTGGCCCCAGGAACCCTGCTTATCTAGTTCCTCAGAATCCCCCCTACGAATCGCCTGCACACTCTGCAAGGCAGAGCTAAGGGCAGTGAGGGGCACCTCAGCGTCCACACACCACAGGGGCTCTGCAAACCAGCAAAGTAGGTATTTCCTTATCTGTGTCTCCTTTTGCTACGTCTCCCTTCAGGTTGCCCAGCTGGCCCTCAGCAGGTCTTTGTCCTTCATACTCCCCGCTCCCCAGGTCCCTGAGCTCCTCCCTGCCTGGCCCCATACCTGGGGAGACGATGCAGATGGCCATGAGCAGGACATGCTCCTCCTCATGCAAGTTCAGCTTCTTCAGTCCCACCTGGAACTTGATGAGGGGCTCAATCAGCTCCAGGCTGTGTCCGGCTGTGAGAGACAATGGCCAGGTACTGCGGGCAGAGCTGAGGAGCCGCCCACCCACCTCCAACCCCATGGGTCTGACCCTCGCCCTTCTCTCCCTGTTGGTGCCTAACTCCCTCCCATGTATCTGATTGGAGCCAAACCCCAGGACGGGTGGAGCCAGAATCTGGGAGCTGAAAAAGACTCCCCAGGAGGTGGAGTCTAGGCATACCTTTGGTCACGTCACTGACGCGGTACTTGTAGTCTTGGTTGCCACAGGTCCAGGACATGTCGTCCATGGTGAAGGACTCATTGGAGCGCAACATGATGACCTCAATGGCACTTGACTTCAGCAGTACGATCTGGTCCTCAGAGGTGAGGTCTCTGCAGGGGAGGGAGGGAAGGAGGTCAGGTTACCAGTAAACGCCTTCAAGCCACACAAATCAGTTTAGTGCTTTGACAGGTATACACCTGCTGGGCAC
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GAGTCACGCCCTCCTCTGTCAGTTTTCCTGAATGAGGGGATTGACTCGTTTAGCAACTTACAAGTGTTTTCTCCCACTGAAGAGCAAGCTGGACCAATACGTTCTGCAGCTAAAATCAAACAAGGGTCTCTCCCTAGACCCTTGTAAAATAACAACAGCAATAATAATTAATGTACAGAAGTTTCACAATGTAAGTTCTCCCCCCATAAATATCTCCAAATCAGTGGTACCTGCTACCCTGTATATTAGACTATAATACAAATGGAGTCTGAGTCTGAAAACAACTCATATCTAATAAATTTAAGATTAAGCGATATATATGCTATTCTGCAGTAAGGAACGTGGCTTTCAGATGTTTTTCCACCTGAAGAATTCTGAGAGACATGGGGCCAGGTGGACACCAAGGCTCTTGCAGTGTGAAGTCTGATTCCTCTCTGGGTTTTCAGGGAACTACGGATGCAGGTGCAAGGACACAGCTTCCAGGAGTTGGGGCAGTCACGTTCCCACTGACTTTAACATTCCTGGTGACTCAGGGAATGCGGCCGCATTCCCCAAACTCAAGCACTGATCTGAAGAAGCCTCTGTGATCCACCTCGAAGAACGCCTTTCTGTACCGGTCCCGCACACCTACAGCTCACTCTCACAAAGACCCCACCTTGGAGTAAACGGACAGACGCTTCCCACCAGCTGGGCTGGGCTGGCTGCAGAGAGCATGCACTTGAAGTTGTATCACTCCGCCCCTGCCTCACAGGCACCTTTTGACTTTTGGGTGGTGGAGTGAGAATAAGAAGGCACCTTACCCTACATCACGGAACCCCCAAACACTCTCTCTGACTAGCCACCCGAGACTGCCCCGCTCTCCCTTCCCACACTCTGGGGTGCGGCAGCGCTAGCTCTTAGCCCTGTGGGTGAACAGCGGCCTTGCAACCACATTGAGGCGGCAGGGAGATCATGACTCAGCCGCTGGGGTCTGAAAATTCTTCTCCTCCATCCCACCCTGCCAGATGGAGAAGATGCGGCTCACTGCTTCTCCAGACCCTCTCCCCTGGGGAGGGGGTGGGGGAGCAGGCTCTCGGCTACTCTCGGTGATCCGAGGAGGACAGGGAGGGCTGGCTCTCCTGGGCAGGAGGTAAGGCACTGGCAGGGGGAGGACGAGGTCGGCAGGTGCTTTTCTGCAAACTGGGGACAATTCAGTCCTGCTACATGGATCCGTGGAAGGAGGGCTTCCACCTCAACCAACCCCTTAGACCCAGGGCGAGGAACTGTGAGCTTGGTGACAGGGACAGCTGTCATATTCTTCTGTGAGGCTGTTTTTGTCTGTTTTTCCTCCTTGGGTCTCTCAGCAGGTGGGTTCGTGCCTGGTGCTCCAGTGATGGGAAGAAAACCCACCTCACCACAGCTACTGCCCGTGAGAATATAACCAGGGCAATGGGATGTTGGTGGGCACTGAAGGGGGTGGGGTGGGAGCTGTGGGCCGATTATTTATCGTGAGTAGGCAGGAGAGGGAGACCCCACTAGGCGCTGGACAAGCGGGGCCTGCAGTGGGGGGAGGTGCAGGTGTCTCTGTCCCTGAGGAATGGATGCATTTCTCCTGTCTGTTCCCTCAACATCAGTCAGCAGCCACTTAGGCAGCGGTGGAGGCATCTCTGGGCAAGGCCCTGCCTCCAGCCTCTGCCCTCTGCCCCCACTTGGGTTTCTTTGTCAAACAAACAGCAACTCCTCATGGCTGAGGTCTCAAGGGACCGGGGAAAAGCCCGCAGGAAAGGGGTTAGGTTGGACAGGAGAGAGAATGGGCTGGGTGGATAGGGGAGGTGGCAGAGGAGGGGCTGAACCCCAGACGGGGTGAGGAGGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCACAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCACGGGGATAGAGAAGAAGGCACAGGAGCTCTCAGCTGGGCCCCTCACTGCTCAATCCCACCACCCCCCACCCACACAGACACTCAACGGCAGCACCCCCTAGGCCACCCCTCTATGACTGCTGACCGGTGATACCACTGCCTGGCCCCAAAGCCCTCCAGTGACTTCTCCGTGCATTTAGGATCCAGACCTAGGTCCTTCCATGGGCGCACCTGGCCCTGTCCCTGCCTGGCCTTGCTCCCTGTCCATGCTCTGTCCATCCCTCAGCGTCCCGATGCGCCATGCTCTCTGGCCACCAGCCTTCACATCTGTGCTCCCTCTGCTTGGAACTCTGCTCTGCTATCTTTGCCAGACTCTTACTGATCCTTTGGATAACAGCTTAAAAGGTCTTCCTCCAAAAGGCCATTCCTGGCAACACTCTACCTCTGTAGCCCAGACCACGTCAGCTTCCCTCCTTCTATTCTACCCTTCTGTAGCATCACTTACTTTATTTTTAAAACTCTTGCCTTGTTAGGAATTAATAATTAAATAACATTTGTTTAATGTTTCCTCCTAAGCTTCATGGGAGAGGAGCCTGTGTCCCATTTGCTGCTGAACCCCAGTACCTAGCATAGTGCCTGGTACCTAATAGGTGCTCAATAAATTGTTGCTAAGTGGATGAATGAATGAGAGAAGGCTGGCTGGGCAGGGGTAGAGGAGCCCATCTCCATTCCTTGAGCCTCCAGTCCAGGAAAGCATCCCTGGGCACAGGCCACTAGCACAGGCTGAGGCAGGGCCGCCCCTCTTTGGACCTCATCACCGACATCATGTCCCCAAGGTCACAATAACTTCCTCTTCGGCCTTTTCTCCCTCTTCTCACCTCTAACCAGCGGAAGAGGTCAAGGGTCACTGCACATTGCCTCCAAAATCAATCAGGTAAACTATATAGGCAGAACCATCTCTCAGGCTCCAAAGTTTTGTACCCTGCCCGCAAGAAACCTCAAATAACAGGAATGTTGAGCCCAGTTCACGCAAGAGCAGAGCCTGAGTATTGGGAATGCGCAGGCCTGTCTGTGGCCCCAGGAACCCTGCTTATCTAGTTCCTCAGAATCCCCCCTACGAATCGCCTGCACACTCTGCAAGGCAGAGCTAAGGGCAGTGAGGGGCACCTCAGCGTCCACACACCACAGGGGCTCTGCAAACCAGCAAAGTAGGTATTTCCTTATCTGTGTCTCCTTTTGCTACGTCTCCCTTCAGGTTGCCCAGCTGGCCCTCAGCAGGTCTTTGTCCTTCATACTCCCCGCTCCCCAGGTCCCTGAGCTCCTCCCTGCCTGGCCCCATACCTGGGGAGACGATGCAGATGGCCATGAGCAGGACATGCTCCTCCTCATGCAAGTTCAGCTTCTTCAGTCCCACCTGGAACTTGATGAGGGGCTCAATCAGCTCCAGGCTGTGTCCGGCTGTGAGAGACAATGGCCAGGTACTGCGGGCAGAGCTGAGGAGCCGCCCACCCACCTCCAACCCCATGGGTCTGACCCTCGCCCTTCTCTCCCTGTTGGTGCCTAACTCCCTCCCATGTATCTGATTGGAGCCAAACCCCAGGACGGGTGGAGCCAGAATCTGGGAGCTGAAAAAGACTCCCCAGGAGGTGGAGTCTAGGCATACCTTTGGTCACGTCACTGACGCGGTACTTGTAGTCTTGGTTGCCACAGGTCCAGGACATGTCGTCCATGGTGAAGGACTCATTGGAGCGCAACATGATGACCTCAATGGCACTTGACTTCAGCAGTACGATCTGGTCCTCAGAGGTGAGGTCTCTGCAGGGGAGGGAGGGAAGGAGGTCAGGTTACCAGTAAACGCCTTCAAGCCACACAAATCAGTTTAGTGCTTTGACAGGTATACACCTGCTGGGCAC
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Task1_train_17307
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This mutation occurs in VDR (vitamin D receptor) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Vitamin D-dependent rickets type II with alopecia
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GAGTCACGCCCTCCTCTGTCAGTTTTCCTGAATGAGGGGATTGACTCGTTTAGCAACTTACAAGTGTTTTCTCCCACTGAAGAGCAAGCTGGACCAATACGTTCTGCAGCTAAAATCAAACAAGGGTCTCTCCCTAGACCCTTGTAAAATAACAACAGCAATAATAATTAATGTACAGAAGTTTCACAATGTAAGTTCTCCCCCCATAAATATCTCCAAATCAGTGGTACCTGCTACCCTGTATATTAGACTATAATACAAATGGAGTCTGAGTCTGAAAACAACTCATATCTAATAAATTTAAGATTAAGCGATATATATGCTATTCTGCAGTAAGGAACGTGGCTTTCAGATGTTTTTCCACCTGAAGAATTCTGAGAGACATGGGGCCAGGTGGACACCAAGGCTCTTGCAGTGTGAAGTCTGATTCCTCTCTGGGTTTTCAGGGAACTACGGATGCAGGTGCAAGGACACAGCTTCCAGGAGTTGGGGCAGTCACGTTCCCACTGACTTTAACATTCCTGGTGACTCAGGGAATGCGGCCGCATTCCCCAAACTCAAGCACTGATCTGAAGAAGCCTCTGTGATCCACCTCGAAGAACGCCTTTCTGTACCGGTCCCGCACACCTACAGCTCACTCTCACAAAGACCCCACCTTGGAGTAAACGGACAGACGCTTCCCACCAGCTGGGCTGGGCTGGCTGCAGAGAGCATGCACTTGAAGTTGTATCACTCCGCCCCTGCCTCACAGGCACCTTTTGACTTTTGGGTGGTGGAGTGAGAATAAGAAGGCACCTTACCCTACATCACGGAACCCCCAAACACTCTCTCTGACTAGCCACCCGAGACTGCCCCGCTCTCCCTTCCCACACTCTGGGGTGCGGCAGCGCTAGCTCTTAGCCCTGTGGGTGAACAGCGGCCTTGCAACCACATTGAGGCGGCAGGGAGATCATGACTCAGCCGCTGGGGTCTGAAAATTCTTCTCCTCCATCCCACCCTGCCAGATGGAGAAGATGCGGCTCACTGCTTCTCCAGACCCTCTCCCCTGGGGAGGGGGTGGGGGAGCAGGCTCTCGGCTACTCTCGGTGATCCGAGGAGGACAGGGAGGGCTGGCTCTCCTGGGCAGGAGGTAAGGCACTGGCAGGGGGAGGACGAGGTCGGCAGGTGCTTTTCTGCAAACTGGGGACAATTCAGTCCTGCTACATGGATCCGTGGAAGGAGGGCTTCCACCTCAACCAACCCCTTAGACCCAGGGCGAGGAACTGTGAGCTTGGTGACAGGGACAGCTGTCATATTCTTCTGTGAGGCTGTTTTTGTCTGTTTTTCCTCCTTGGGTCTCTCAGCAGGTGGGTTCGTGCCTGGTGCTCCAGTGATGGGAAGAAAACCCACCTCACCACAGCTACTGCCCGTGAGAATATAACCAGGGCAATGGGATGTTGGTGGGCACTGAAGGGGGTGGGGTGGGAGCTGTGGGCCGATTATTTATCGTGAGTAGGCAGGAGAGGGAGACCCCACTAGGCGCTGGACAAGCGGGGCCTGCAGTGGGGGGAGGTGCAGGTGTCTCTGTCCCTGAGGAATGGATGCATTTCTCCTGTCTGTTCCCTCAACATCAGTCAGCAGCCACTTAGGCAGCGGTGGAGGCATCTCTGGGCAAGGCCCTGCCTCCAGCCTCTGCCCTCTGCCCCCACTTGGGTTTCTTTGTCAAACAAACAGCAACTCCTCATGGCTGAGGTCTCAAGGGACCGGGGAAAAGCCCGCAGGAAAGGGGTTAGGTTGGACAGGAGAGAGAATGGGCTGGGTGGATAGGGGAGGTGGCAGAGGAGGGGCTGAACCCCAGACGGGGTGAGGAGGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCACGGGGATAGAGAAGAAGGCACAGGAGCTCTCAGCTGGGCCCCTCACTGCTCAATCCCACCACCCCCCACCCACACAGACACTCAACGGCAGCACCCCCTAGGCCACCCCTCTATGACTGCTGACCGGTGATACCACTGCCTGGCCCCAAAGCCCTCCAGTGACTTCTCCGTGCATTTAGGATCCAGACCTAGGTCCTTCCATGGGCGCACCTGGCCCTGTCCCTGCCTGGCCTTGCTCCCTGTCCATGCTCTGTCCATCCCTCAGCGTCCCGATGCGCCATGCTCTCTGGCCACCAGCCTTCACATCTGTGCTCCCTCTGCTTGGAACTCTGCTCTGCTATCTTTGCCAGACTCTTACTGATCCTTTGGATAACAGCTTAAAAGGTCTTCCTCCAAAAGGCCATTCCTGGCAACACTCTACCTCTGTAGCCCAGACCACGTCAGCTTCCCTCCTTCTATTCTACCCTTCTGTAGCATCACTTACTTTATTTTTAAAACTCTTGCCTTGTTAGGAATTAATAATTAAATAACATTTGTTTAATGTTTCCTCCTAAGCTTCATGGGAGAGGAGCCTGTGTCCCATTTGCTGCTGAACCCCAGTACCTAGCATAGTGCCTGGTACCTAATAGGTGCTCAATAAATTGTTGCTAAGTGGATGAATGAATGAGAGAAGGCTGGCTGGGCAGGGGTAGAGGAGCCCATCTCCATTCCTTGAGCCTCCAGTCCAGGAAAGCATCCCTGGGCACAGGCCACTAGCACAGGCTGAGGCAGGGCCGCCCCTCTTTGGACCTCATCACCGACATCATGTCCCCAAGGTCACAATAACTTCCTCTTCGGCCTTTTCTCCCTCTTCTCACCTCTAACCAGCGGAAGAGGTCAAGGGTCACTGCACATTGCCTCCAAAATCAATCAGGTAAACTATATAGGCAGAACCATCTCTCAGGCTCCAAAGTTTTGTACCCTGCCCGCAAGAAACCTCAAATAACAGGAATGTTGAGCCCAGTTCACGCAAGAGCAGAGCCTGAGTATTGGGAATGCGCAGGCCTGTCTGTGGCCCCAGGAACCCTGCTTATCTAGTTCCTCAGAATCCCCCCTACGAATCGCCTGCACACTCTGCAAGGCAGAGCTAAGGGCAGTGAGGGGCACCTCAGCGTCCACACACCACAGGGGCTCTGCAAACCAGCAAAGTAGGTATTTCCTTATCTGTGTCTCCTTTTGCTACGTCTCCCTTCAGGTTGCCCAGCTGGCCCTCAGCAGGTCTTTGTCCTTCATACTCCCCGCTCCCCAGGTCCCTGAGCTCCTCCCTGCCTGGCCCCATACCTGGGGAGACGATGCAGATGGCCATGAGCAGGACATGCTCCTCCTCATGCAAGTTCAGCTTCTTCAGTCCCACCTGGAACTTGATGAGGGGCTCAATCAGCTCCAGGCTGTGTCCGGCTGTGAGAGACAATGGCCAGGTACTGCGGGCAGAGCTGAGGAGCCGCCCACCCACCTCCAACCCCATGGGTCTGACCCTCGCCCTTCTCTCCCTGTTGGTGCCTAACTCCCTCCCATGTATCTGATTGGAGCCAAACCCCAGGACGGGTGGAGCCAGAATCTGGGAGCTGAAAAAGACTCCCCAGGAGGTGGAGTCTAGGCATACCTTTGGTCACGTCACTGACGCGGTACTTGTAGTCTTGGTTGCCACAGGTCCAGGACATGTCGTCCATGGTGAAGGACTCATTGGAGCGCAACATGATGACCTCAATGGCACTTGACTTCAGCAGTACGATCTGGTCCTCAGAGGTGAGGTCTCTGCAGGGGAGGGAGGGAAGGAGGTCAGGTTACCAGTAAACGCCTTCAAGCCACACAAATCAGTTTAGTGCTTTGACAGGTATACACCTGCTGGGCAC
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GAGTCACGCCCTCCTCTGTCAGTTTTCCTGAATGAGGGGATTGACTCGTTTAGCAACTTACAAGTGTTTTCTCCCACTGAAGAGCAAGCTGGACCAATACGTTCTGCAGCTAAAATCAAACAAGGGTCTCTCCCTAGACCCTTGTAAAATAACAACAGCAATAATAATTAATGTACAGAAGTTTCACAATGTAAGTTCTCCCCCCATAAATATCTCCAAATCAGTGGTACCTGCTACCCTGTATATTAGACTATAATACAAATGGAGTCTGAGTCTGAAAACAACTCATATCTAATAAATTTAAGATTAAGCGATATATATGCTATTCTGCAGTAAGGAACGTGGCTTTCAGATGTTTTTCCACCTGAAGAATTCTGAGAGACATGGGGCCAGGTGGACACCAAGGCTCTTGCAGTGTGAAGTCTGATTCCTCTCTGGGTTTTCAGGGAACTACGGATGCAGGTGCAAGGACACAGCTTCCAGGAGTTGGGGCAGTCACGTTCCCACTGACTTTAACATTCCTGGTGACTCAGGGAATGCGGCCGCATTCCCCAAACTCAAGCACTGATCTGAAGAAGCCTCTGTGATCCACCTCGAAGAACGCCTTTCTGTACCGGTCCCGCACACCTACAGCTCACTCTCACAAAGACCCCACCTTGGAGTAAACGGACAGACGCTTCCCACCAGCTGGGCTGGGCTGGCTGCAGAGAGCATGCACTTGAAGTTGTATCACTCCGCCCCTGCCTCACAGGCACCTTTTGACTTTTGGGTGGTGGAGTGAGAATAAGAAGGCACCTTACCCTACATCACGGAACCCCCAAACACTCTCTCTGACTAGCCACCCGAGACTGCCCCGCTCTCCCTTCCCACACTCTGGGGTGCGGCAGCGCTAGCTCTTAGCCCTGTGGGTGAACAGCGGCCTTGCAACCACATTGAGGCGGCAGGGAGATCATGACTCAGCCGCTGGGGTCTGAAAATTCTTCTCCTCCATCCCACCCTGCCAGATGGAGAAGATGCGGCTCACTGCTTCTCCAGACCCTCTCCCCTGGGGAGGGGGTGGGGGAGCAGGCTCTCGGCTACTCTCGGTGATCCGAGGAGGACAGGGAGGGCTGGCTCTCCTGGGCAGGAGGTAAGGCACTGGCAGGGGGAGGACGAGGTCGGCAGGTGCTTTTCTGCAAACTGGGGACAATTCAGTCCTGCTACATGGATCCGTGGAAGGAGGGCTTCCACCTCAACCAACCCCTTAGACCCAGGGCGAGGAACTGTGAGCTTGGTGACAGGGACAGCTGTCATATTCTTCTGTGAGGCTGTTTTTGTCTGTTTTTCCTCCTTGGGTCTCTCAGCAGGTGGGTTCGTGCCTGGTGCTCCAGTGATGGGAAGAAAACCCACCTCACCACAGCTACTGCCCGTGAGAATATAACCAGGGCAATGGGATGTTGGTGGGCACTGAAGGGGGTGGGGTGGGAGCTGTGGGCCGATTATTTATCGTGAGTAGGCAGGAGAGGGAGACCCCACTAGGCGCTGGACAAGCGGGGCCTGCAGTGGGGGGAGGTGCAGGTGTCTCTGTCCCTGAGGAATGGATGCATTTCTCCTGTCTGTTCCCTCAACATCAGTCAGCAGCCACTTAGGCAGCGGTGGAGGCATCTCTGGGCAAGGCCCTGCCTCCAGCCTCTGCCCTCTGCCCCCACTTGGGTTTCTTTGTCAAACAAACAGCAACTCCTCATGGCTGAGGTCTCAAGGGACCGGGGAAAAGCCCGCAGGAAAGGGGTTAGGTTGGACAGGAGAGAGAATGGGCTGGGTGGATAGGGGAGGTGGCAGAGGAGGGGCTGAACCCCAGACGGGGTGAGGAGGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCTCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCACGGGGATAGAGAAGAAGGCACAGGAGCTCTCAGCTGGGCCCCTCACTGCTCAATCCCACCACCCCCCACCCACACAGACACTCAACGGCAGCACCCCCTAGGCCACCCCTCTATGACTGCTGACCGGTGATACCACTGCCTGGCCCCAAAGCCCTCCAGTGACTTCTCCGTGCATTTAGGATCCAGACCTAGGTCCTTCCATGGGCGCACCTGGCCCTGTCCCTGCCTGGCCTTGCTCCCTGTCCATGCTCTGTCCATCCCTCAGCGTCCCGATGCGCCATGCTCTCTGGCCACCAGCCTTCACATCTGTGCTCCCTCTGCTTGGAACTCTGCTCTGCTATCTTTGCCAGACTCTTACTGATCCTTTGGATAACAGCTTAAAAGGTCTTCCTCCAAAAGGCCATTCCTGGCAACACTCTACCTCTGTAGCCCAGACCACGTCAGCTTCCCTCCTTCTATTCTACCCTTCTGTAGCATCACTTACTTTATTTTTAAAACTCTTGCCTTGTTAGGAATTAATAATTAAATAACATTTGTTTAATGTTTCCTCCTAAGCTTCATGGGAGAGGAGCCTGTGTCCCATTTGCTGCTGAACCCCAGTACCTAGCATAGTGCCTGGTACCTAATAGGTGCTCAATAAATTGTTGCTAAGTGGATGAATGAATGAGAGAAGGCTGGCTGGGCAGGGGTAGAGGAGCCCATCTCCATTCCTTGAGCCTCCAGTCCAGGAAAGCATCCCTGGGCACAGGCCACTAGCACAGGCTGAGGCAGGGCCGCCCCTCTTTGGACCTCATCACCGACATCATGTCCCCAAGGTCACAATAACTTCCTCTTCGGCCTTTTCTCCCTCTTCTCACCTCTAACCAGCGGAAGAGGTCAAGGGTCACTGCACATTGCCTCCAAAATCAATCAGGTAAACTATATAGGCAGAACCATCTCTCAGGCTCCAAAGTTTTGTACCCTGCCCGCAAGAAACCTCAAATAACAGGAATGTTGAGCCCAGTTCACGCAAGAGCAGAGCCTGAGTATTGGGAATGCGCAGGCCTGTCTGTGGCCCCAGGAACCCTGCTTATCTAGTTCCTCAGAATCCCCCCTACGAATCGCCTGCACACTCTGCAAGGCAGAGCTAAGGGCAGTGAGGGGCACCTCAGCGTCCACACACCACAGGGGCTCTGCAAACCAGCAAAGTAGGTATTTCCTTATCTGTGTCTCCTTTTGCTACGTCTCCCTTCAGGTTGCCCAGCTGGCCCTCAGCAGGTCTTTGTCCTTCATACTCCCCGCTCCCCAGGTCCCTGAGCTCCTCCCTGCCTGGCCCCATACCTGGGGAGACGATGCAGATGGCCATGAGCAGGACATGCTCCTCCTCATGCAAGTTCAGCTTCTTCAGTCCCACCTGGAACTTGATGAGGGGCTCAATCAGCTCCAGGCTGTGTCCGGCTGTGAGAGACAATGGCCAGGTACTGCGGGCAGAGCTGAGGAGCCGCCCACCCACCTCCAACCCCATGGGTCTGACCCTCGCCCTTCTCTCCCTGTTGGTGCCTAACTCCCTCCCATGTATCTGATTGGAGCCAAACCCCAGGACGGGTGGAGCCAGAATCTGGGAGCTGAAAAAGACTCCCCAGGAGGTGGAGTCTAGGCATACCTTTGGTCACGTCACTGACGCGGTACTTGTAGTCTTGGTTGCCACAGGTCCAGGACATGTCGTCCATGGTGAAGGACTCATTGGAGCGCAACATGATGACCTCAATGGCACTTGACTTCAGCAGTACGATCTGGTCCTCAGAGGTGAGGTCTCTGCAGGGGAGGGAGGGAAGGAGGTCAGGTTACCAGTAAACGCCTTCAAGCCACACAAATCAGTTTAGTGCTTTGACAGGTATACACCTGCTGGGCAC
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Task1_train_17308
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A variant affecting Chromosome 12, within the gene VDR (vitamin D receptor), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Vitamin D-dependent rickets type II with alopecia
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TAGGCGCTGGACAAGCGGGGCCTGCAGTGGGGGGAGGTGCAGGTGTCTCTGTCCCTGAGGAATGGATGCATTTCTCCTGTCTGTTCCCTCAACATCAGTCAGCAGCCACTTAGGCAGCGGTGGAGGCATCTCTGGGCAAGGCCCTGCCTCCAGCCTCTGCCCTCTGCCCCCACTTGGGTTTCTTTGTCAAACAAACAGCAACTCCTCATGGCTGAGGTCTCAAGGGACCGGGGAAAAGCCCGCAGGAAAGGGGTTAGGTTGGACAGGAGAGAGAATGGGCTGGGTGGATAGGGGAGGTGGCAGAGGAGGGGCTGAACCCCAGACGGGGTGAGGAGGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCACGGGGATAGAGAAGAAGGCACAGGAGCTCTCAGCTGGGCCCCTCACTGCTCAATCCCACCACCCCCCACCCACACAGACACTCAACGGCAGCACCCCCTAGGCCACCCCTCTATGACTGCTGACCGGTGATACCACTGCCTGGCCCCAAAGCCCTCCAGTGACTTCTCCGTGCATTTAGGATCCAGACCTAGGTCCTTCCATGGGCGCACCTGGCCCTGTCCCTGCCTGGCCTTGCTCCCTGTCCATGCTCTGTCCATCCCTCAGCGTCCCGATGCGCCATGCTCTCTGGCCACCAGCCTTCACATCTGTGCTCCCTCTGCTTGGAACTCTGCTCTGCTATCTTTGCCAGACTCTTACTGATCCTTTGGATAACAGCTTAAAAGGTCTTCCTCCAAAAGGCCATTCCTGGCAACACTCTACCTCTGTAGCCCAGACCACGTCAGCTTCCCTCCTTCTATTCTACCCTTCTGTAGCATCACTTACTTTATTTTTAAAACTCTTGCCTTGTTAGGAATTAATAATTAAATAACATTTGTTTAATGTTTCCTCCTAAGCTTCATGGGAGAGGAGCCTGTGTCCCATTTGCTGCTGAACCCCAGTACCTAGCATAGTGCCTGGTACCTAATAGGTGCTCAATAAATTGTTGCTAAGTGGATGAATGAATGAGAGAAGGCTGGCTGGGCAGGGGTAGAGGAGCCCATCTCCATTCCTTGAGCCTCCAGTCCAGGAAAGCATCCCTGGGCACAGGCCACTAGCACAGGCTGAGGCAGGGCCGCCCCTCTTTGGACCTCATCACCGACATCATGTCCCCAAGGTCACAATAACTTCCTCTTCGGCCTTTTCTCCCTCTTCTCACCTCTAACCAGCGGAAGAGGTCAAGGGTCACTGCACATTGCCTCCAAAATCAATCAGGTAAACTATATAGGCAGAACCATCTCTCAGGCTCCAAAGTTTTGTACCCTGCCCGCAAGAAACCTCAAATAACAGGAATGTTGAGCCCAGTTCACGCAAGAGCAGAGCCTGAGTATTGGGAATGCGCAGGCCTGTCTGTGGCCCCAGGAACCCTGCTTATCTAGTTCCTCAGAATCCCCCCTACGAATCGCCTGCACACTCTGCAAGGCAGAGCTAAGGGCAGTGAGGGGCACCTCAGCGTCCACACACCACAGGGGCTCTGCAAACCAGCAAAGTAGGTATTTCCTTATCTGTGTCTCCTTTTGCTACGTCTCCCTTCAGGTTGCCCAGCTGGCCCTCAGCAGGTCTTTGTCCTTCATACTCCCCGCTCCCCAGGTCCCTGAGCTCCTCCCTGCCTGGCCCCATACCTGGGGAGACGATGCAGATGGCCATGAGCAGGACATGCTCCTCCTCATGCAAGTTCAGCTTCTTCAGTCCCACCTGGAACTTGATGAGGGGCTCAATCAGCTCCAGGCTGTGTCCGGCTGTGAGAGACAATGGCCAGGTACTGCGGGCAGAGCTGAGGAGCCGCCCACCCACCTCCAACCCCATGGGTCTGACCCTCGCCCTTCTCTCCCTGTTGGTGCCTAACTCCCTCCCATGTATCTGATTGGAGCCAAACCCCAGGACGGGTGGAGCCAGAATCTGGGAGCTGAAAAAGACTCCCCAGGAGGTGGAGTCTAGGCATACCTTTGGTCACGTCACTGACGCGGTACTTGTAGTCTTGGTTGCCACAGGTCCAGGACATGTCGTCCATGGTGAAGGACTCATTGGAGCGCAACATGATGACCTCAATGGCACTTGACTTCAGCAGTACGATCTGGTCCTCAGAGGTGAGGTCTCTGCAGGGGAGGGAGGGAAGGAGGTCAGGTTACCAGTAAACGCCTTCAAGCCACACAAATCAGTTTAGTGCTTTGACAGGTATACACCTGCTGGGCACCAACATGCACCCTGGGTCTTTCATCGAGGAGCTTGCAGGCTGGCTGGAAGGGACAAGAGTGTTCCTTGAGAGAGAACAGTTCAACACTGTGATCATGTGCCAAGGCCAGAAGTGAAGTAGCTCAGTTACTAAGACAAGAAAAACTCAGAGACCAAGCAGCCAGAGCTATGGGGCACAGGAAACGGAGCCCAGGGAAGTTCCCAGCATTGAGGCATGAATATGGTGGTCTGCAAAAGGTAGGGCCATGGTATCTTCAACAACACCCAAGTTTTCTCCTCCTCTCCCTCCTACTGTCCTCCAGTCCTTCTCAGTAGTAAATTCAGCCAACTCTGTCTCTAGGATGTCTCTCAAGCCCGTGATCTTATTCCCACTCCTACCAGGAGTGCCCTGGTTCAGAGCTCCAGCGTCTTTTCCAATAGCCTCTTACAGGAATCCCAGACTTGTGTCTCTCCAGTCTCTCATTCATCTTTCTTACCACTGCTGCAGGTCAATGTCCTCTTGCACTCAGAAATCTTCACTGACTCTCAAACACCCTAGGATCAGGCCCACACTCCCTAACTTGGCTCCAACCTCTCATTCCAACTCCCTTTCCCATGGTAAACTCCACCAACCTTCCATTCTAGCAGCATCATGCCACTCCACATTCAGATGCTGTGTGTTCTCACTGTGCCTTTTTTTTTTCTTGTGACAGGATCTCACTCTGTTGCTGAGGCTGGAGTGCAGTGTTATGATCATAGCATGCTACAGCCTCAAACTCCTGGGCTCAAGTGAGTCTCCCACCTCAGCCTTCCGAATAGCTAAGACTACAAGCATGCGCCACCATGCTCAGCTAATTTCTTTTATTAGTATTTTTAGAGACAGTGTCCTGTTCTGTCACACAAGCTGGAGTGCAACAGAATGATTATGGCTTACTGCAGCCTCAAACTCCTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCACACCATCACGCCTAGCTAATTTTTTTTGAGACGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTTCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGGCCAGCTAATTTTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTAGGCTTCCCAAAGTGCTGGGATTACAGGTGTACGCCTAGCTAATTTTTAAATTTTTTTTGTAGGGATGGTGTCTCACTATGTGGCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGTGATCCTCTCATCTTGGCCTCTCAAAGAACCAGGGTTACAGGTGTGAGCCACTGCACCCAGCCATCACCACGCCTTTCAGCATACTACAGCTCCAGCCAGGAATACCCTTCTAATTCTCCATTTTGTTTTTCTGGTCCTGAATCCACTGTGTTT
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TAGGCGCTGGACAAGCGGGGCCTGCAGTGGGGGGAGGTGCAGGTGTCTCTGTCCCTGAGGAATGGATGCATTTCTCCTGTCTGTTCCCTCAACATCAGTCAGCAGCCACTTAGGCAGCGGTGGAGGCATCTCTGGGCAAGGCCCTGCCTCCAGCCTCTGCCCTCTGCCCCCACTTGGGTTTCTTTGTCAAACAAACAGCAACTCCTCATGGCTGAGGTCTCAAGGGACCGGGGAAAAGCCCGCAGGAAAGGGGTTAGGTTGGACAGGAGAGAGAATGGGCTGGGTGGATAGGGGAGGTGGCAGAGGAGGGGCTGAACCCCAGACGGGGTGAGGAGGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCACGGGGATAGAGAAGAAGGCACAGGAGCTCTCAGCTGGGCCCCTCACTGCTCAATCCCACCACCCCCCACCCACACAGACACTCAACGGCAGCACCCCCTAGGCCACCCCTCTATGACTGCTGACCGGTGATACCACTGCCTGGCCCCAAAGCCCTCCAGTGACTTCTCCGTGCATTTAGGATCCAGACCTAGGTCCTTCCATGGGCGCACCTGGCCCTGTCCCTGCCTGGCCTTGCTCCCTGTCCATGCTCTGTCCATCCCTCAGCGTCCCGATGCGCCATGCTCTCTGGCCACCAGCCTTCACATCTGTGCTCCCTCTGCTTGGAACTCTGCTCTGCTATCTTTGCCAGACTCTTACTGATCCTTTGGATAACAGCTTAAAAGGTCTTCCTCCAAAAGGCCATTCCTGGCAACACTCTACCTCTGTAGCCCAGACCACGTCAGCTTCCCTCCTTCTATTCTACCCTTCTGTAGCATCACTTACTTTATTTTTAAAACTCTTGCCTTGTTAGGAATTAATAATTAAATAACATTTGTTTAATGTTTCCTCCTAAGCTTCATGGGAGAGGAGCCTGTGTCCCATTTGCTGCTGAACCCCAGTACCTAGCATAGTGCCTGGTACCTAATAGGTGCTCAATAAATTGTTGCTAAGTGGATGAATGAATGAGAGAAGGCTGGCTGGGCAGGGGTAGAGGAGCCCATCTCCATTCCTTGAGCCTCCAGTCCAGGAAAGCATCCCTGGGCACAGGCCACTAGCACAGGCTGAGGCAGGGCCGCCCCTCTTTGGACCTCATCACCGACATCATGTCCCCAAGGTCACAATAACTTCCTCTTCGGCCTTTTCTCCCTCTTCTCACCTCTAACCAGCGGAAGAGGTCAAGGGTCACTGCACATTGCCTCCAAAATCAATCAGGTAAACTATATAGGCAGAACCATCTCTCAGGCTCCAAAGTTTTGTACCCTGCCCGCAAGAAACCTCAAATAACAGGAATGTTGAGCCCAGTTCACGCAAGAGCAGAGCCTGAGTATTGGGAATGCGCAGGCCTGTCTGTGGCCCCAGGAACCCTGCTTATCTAGTTCCTCAGAATCCCCCCTACGAATCGCCTGCACACTCTGCAAGGCAGAGCTAAGGGCAGTGAGGGGCACCTCAGCGTCCACACACCACAGGGGCTCTGCAAACCAGCAAAGTAGGTATTTCCTTATCTGTGTCTCCTTTTGCTACGTCTCCCTTCAGGTTGCCCAGCTGGCCCTCAGCAGGTCTTTGTCCTTCATACTCCCCGCTCCCCAGGTCCCTGAGCTCCTCCCTGCCTGGCCCCATACCTGGGGAGACGATGCAGATGGCCATGAGCAGGACATGCTTCTCCTCATGCAAGTTCAGCTTCTTCAGTCCCACCTGGAACTTGATGAGGGGCTCAATCAGCTCCAGGCTGTGTCCGGCTGTGAGAGACAATGGCCAGGTACTGCGGGCAGAGCTGAGGAGCCGCCCACCCACCTCCAACCCCATGGGTCTGACCCTCGCCCTTCTCTCCCTGTTGGTGCCTAACTCCCTCCCATGTATCTGATTGGAGCCAAACCCCAGGACGGGTGGAGCCAGAATCTGGGAGCTGAAAAAGACTCCCCAGGAGGTGGAGTCTAGGCATACCTTTGGTCACGTCACTGACGCGGTACTTGTAGTCTTGGTTGCCACAGGTCCAGGACATGTCGTCCATGGTGAAGGACTCATTGGAGCGCAACATGATGACCTCAATGGCACTTGACTTCAGCAGTACGATCTGGTCCTCAGAGGTGAGGTCTCTGCAGGGGAGGGAGGGAAGGAGGTCAGGTTACCAGTAAACGCCTTCAAGCCACACAAATCAGTTTAGTGCTTTGACAGGTATACACCTGCTGGGCACCAACATGCACCCTGGGTCTTTCATCGAGGAGCTTGCAGGCTGGCTGGAAGGGACAAGAGTGTTCCTTGAGAGAGAACAGTTCAACACTGTGATCATGTGCCAAGGCCAGAAGTGAAGTAGCTCAGTTACTAAGACAAGAAAAACTCAGAGACCAAGCAGCCAGAGCTATGGGGCACAGGAAACGGAGCCCAGGGAAGTTCCCAGCATTGAGGCATGAATATGGTGGTCTGCAAAAGGTAGGGCCATGGTATCTTCAACAACACCCAAGTTTTCTCCTCCTCTCCCTCCTACTGTCCTCCAGTCCTTCTCAGTAGTAAATTCAGCCAACTCTGTCTCTAGGATGTCTCTCAAGCCCGTGATCTTATTCCCACTCCTACCAGGAGTGCCCTGGTTCAGAGCTCCAGCGTCTTTTCCAATAGCCTCTTACAGGAATCCCAGACTTGTGTCTCTCCAGTCTCTCATTCATCTTTCTTACCACTGCTGCAGGTCAATGTCCTCTTGCACTCAGAAATCTTCACTGACTCTCAAACACCCTAGGATCAGGCCCACACTCCCTAACTTGGCTCCAACCTCTCATTCCAACTCCCTTTCCCATGGTAAACTCCACCAACCTTCCATTCTAGCAGCATCATGCCACTCCACATTCAGATGCTGTGTGTTCTCACTGTGCCTTTTTTTTTTCTTGTGACAGGATCTCACTCTGTTGCTGAGGCTGGAGTGCAGTGTTATGATCATAGCATGCTACAGCCTCAAACTCCTGGGCTCAAGTGAGTCTCCCACCTCAGCCTTCCGAATAGCTAAGACTACAAGCATGCGCCACCATGCTCAGCTAATTTCTTTTATTAGTATTTTTAGAGACAGTGTCCTGTTCTGTCACACAAGCTGGAGTGCAACAGAATGATTATGGCTTACTGCAGCCTCAAACTCCTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCACACCATCACGCCTAGCTAATTTTTTTTGAGACGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTTCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGGCCAGCTAATTTTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTAGGCTTCCCAAAGTGCTGGGATTACAGGTGTACGCCTAGCTAATTTTTAAATTTTTTTTGTAGGGATGGTGTCTCACTATGTGGCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGTGATCCTCTCATCTTGGCCTCTCAAAGAACCAGGGTTACAGGTGTGAGCCACTGCACCCAGCCATCACCACGCCTTTCAGCATACTACAGCTCCAGCCAGGAATACCCTTCTAATTCTCCATTTTGTTTTTCTGGTCCTGAATCCACTGTGTTT
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Task1_train_17309
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The gene VDR (vitamin D receptor) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Vitamin D-dependent rickets type II with alopecia
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TTTCTCCTGTCTGTTCCCTCAACATCAGTCAGCAGCCACTTAGGCAGCGGTGGAGGCATCTCTGGGCAAGGCCCTGCCTCCAGCCTCTGCCCTCTGCCCCCACTTGGGTTTCTTTGTCAAACAAACAGCAACTCCTCATGGCTGAGGTCTCAAGGGACCGGGGAAAAGCCCGCAGGAAAGGGGTTAGGTTGGACAGGAGAGAGAATGGGCTGGGTGGATAGGGGAGGTGGCAGAGGAGGGGCTGAACCCCAGACGGGGTGAGGAGGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCACGGGGATAGAGAAGAAGGCACAGGAGCTCTCAGCTGGGCCCCTCACTGCTCAATCCCACCACCCCCCACCCACACAGACACTCAACGGCAGCACCCCCTAGGCCACCCCTCTATGACTGCTGACCGGTGATACCACTGCCTGGCCCCAAAGCCCTCCAGTGACTTCTCCGTGCATTTAGGATCCAGACCTAGGTCCTTCCATGGGCGCACCTGGCCCTGTCCCTGCCTGGCCTTGCTCCCTGTCCATGCTCTGTCCATCCCTCAGCGTCCCGATGCGCCATGCTCTCTGGCCACCAGCCTTCACATCTGTGCTCCCTCTGCTTGGAACTCTGCTCTGCTATCTTTGCCAGACTCTTACTGATCCTTTGGATAACAGCTTAAAAGGTCTTCCTCCAAAAGGCCATTCCTGGCAACACTCTACCTCTGTAGCCCAGACCACGTCAGCTTCCCTCCTTCTATTCTACCCTTCTGTAGCATCACTTACTTTATTTTTAAAACTCTTGCCTTGTTAGGAATTAATAATTAAATAACATTTGTTTAATGTTTCCTCCTAAGCTTCATGGGAGAGGAGCCTGTGTCCCATTTGCTGCTGAACCCCAGTACCTAGCATAGTGCCTGGTACCTAATAGGTGCTCAATAAATTGTTGCTAAGTGGATGAATGAATGAGAGAAGGCTGGCTGGGCAGGGGTAGAGGAGCCCATCTCCATTCCTTGAGCCTCCAGTCCAGGAAAGCATCCCTGGGCACAGGCCACTAGCACAGGCTGAGGCAGGGCCGCCCCTCTTTGGACCTCATCACCGACATCATGTCCCCAAGGTCACAATAACTTCCTCTTCGGCCTTTTCTCCCTCTTCTCACCTCTAACCAGCGGAAGAGGTCAAGGGTCACTGCACATTGCCTCCAAAATCAATCAGGTAAACTATATAGGCAGAACCATCTCTCAGGCTCCAAAGTTTTGTACCCTGCCCGCAAGAAACCTCAAATAACAGGAATGTTGAGCCCAGTTCACGCAAGAGCAGAGCCTGAGTATTGGGAATGCGCAGGCCTGTCTGTGGCCCCAGGAACCCTGCTTATCTAGTTCCTCAGAATCCCCCCTACGAATCGCCTGCACACTCTGCAAGGCAGAGCTAAGGGCAGTGAGGGGCACCTCAGCGTCCACACACCACAGGGGCTCTGCAAACCAGCAAAGTAGGTATTTCCTTATCTGTGTCTCCTTTTGCTACGTCTCCCTTCAGGTTGCCCAGCTGGCCCTCAGCAGGTCTTTGTCCTTCATACTCCCCGCTCCCCAGGTCCCTGAGCTCCTCCCTGCCTGGCCCCATACCTGGGGAGACGATGCAGATGGCCATGAGCAGGACATGCTCCTCCTCATGCAAGTTCAGCTTCTTCAGTCCCACCTGGAACTTGATGAGGGGCTCAATCAGCTCCAGGCTGTGTCCGGCTGTGAGAGACAATGGCCAGGTACTGCGGGCAGAGCTGAGGAGCCGCCCACCCACCTCCAACCCCATGGGTCTGACCCTCGCCCTTCTCTCCCTGTTGGTGCCTAACTCCCTCCCATGTATCTGATTGGAGCCAAACCCCAGGACGGGTGGAGCCAGAATCTGGGAGCTGAAAAAGACTCCCCAGGAGGTGGAGTCTAGGCATACCTTTGGTCACGTCACTGACGCGGTACTTGTAGTCTTGGTTGCCACAGGTCCAGGACATGTCGTCCATGGTGAAGGACTCATTGGAGCGCAACATGATGACCTCAATGGCACTTGACTTCAGCAGTACGATCTGGTCCTCAGAGGTGAGGTCTCTGCAGGGGAGGGAGGGAAGGAGGTCAGGTTACCAGTAAACGCCTTCAAGCCACACAAATCAGTTTAGTGCTTTGACAGGTATACACCTGCTGGGCACCAACATGCACCCTGGGTCTTTCATCGAGGAGCTTGCAGGCTGGCTGGAAGGGACAAGAGTGTTCCTTGAGAGAGAACAGTTCAACACTGTGATCATGTGCCAAGGCCAGAAGTGAAGTAGCTCAGTTACTAAGACAAGAAAAACTCAGAGACCAAGCAGCCAGAGCTATGGGGCACAGGAAACGGAGCCCAGGGAAGTTCCCAGCATTGAGGCATGAATATGGTGGTCTGCAAAAGGTAGGGCCATGGTATCTTCAACAACACCCAAGTTTTCTCCTCCTCTCCCTCCTACTGTCCTCCAGTCCTTCTCAGTAGTAAATTCAGCCAACTCTGTCTCTAGGATGTCTCTCAAGCCCGTGATCTTATTCCCACTCCTACCAGGAGTGCCCTGGTTCAGAGCTCCAGCGTCTTTTCCAATAGCCTCTTACAGGAATCCCAGACTTGTGTCTCTCCAGTCTCTCATTCATCTTTCTTACCACTGCTGCAGGTCAATGTCCTCTTGCACTCAGAAATCTTCACTGACTCTCAAACACCCTAGGATCAGGCCCACACTCCCTAACTTGGCTCCAACCTCTCATTCCAACTCCCTTTCCCATGGTAAACTCCACCAACCTTCCATTCTAGCAGCATCATGCCACTCCACATTCAGATGCTGTGTGTTCTCACTGTGCCTTTTTTTTTTCTTGTGACAGGATCTCACTCTGTTGCTGAGGCTGGAGTGCAGTGTTATGATCATAGCATGCTACAGCCTCAAACTCCTGGGCTCAAGTGAGTCTCCCACCTCAGCCTTCCGAATAGCTAAGACTACAAGCATGCGCCACCATGCTCAGCTAATTTCTTTTATTAGTATTTTTAGAGACAGTGTCCTGTTCTGTCACACAAGCTGGAGTGCAACAGAATGATTATGGCTTACTGCAGCCTCAAACTCCTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCACACCATCACGCCTAGCTAATTTTTTTTGAGACGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTTCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGGCCAGCTAATTTTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTAGGCTTCCCAAAGTGCTGGGATTACAGGTGTACGCCTAGCTAATTTTTAAATTTTTTTTGTAGGGATGGTGTCTCACTATGTGGCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGTGATCCTCTCATCTTGGCCTCTCAAAGAACCAGGGTTACAGGTGTGAGCCACTGCACCCAGCCATCACCACGCCTTTCAGCATACTACAGCTCCAGCCAGGAATACCCTTCTAATTCTCCATTTTGTTTTTCTGGTCCTGAATCCACTGTGTTTTCCACTGGAGCCCCGCACCTTCTGACTCTTTAGCACAGTTAGGGCCATGTCATTGTGATGCCTTGAACAT
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TTTCTCCTGTCTGTTCCCTCAACATCAGTCAGCAGCCACTTAGGCAGCGGTGGAGGCATCTCTGGGCAAGGCCCTGCCTCCAGCCTCTGCCCTCTGCCCCCACTTGGGTTTCTTTGTCAAACAAACAGCAACTCCTCATGGCTGAGGTCTCAAGGGACCGGGGAAAAGCCCGCAGGAAAGGGGTTAGGTTGGACAGGAGAGAGAATGGGCTGGGTGGATAGGGGAGGTGGCAGAGGAGGGGCTGAACCCCAGACGGGGTGAGGAGGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCACGGGGATAGAGAAGAAGGCACAGGAGCTCTCAGCTGGGCCCCTCACTGCTCAATCCCACCACCCCCCACCCACACAGACACTCAACGGCAGCACCCCCTAGGCCACCCCTCTATGACTGCTGACCGGTGATACCACTGCCTGGCCCCAAAGCCCTCCAGTGACTTCTCCGTGCATTTAGGATCCAGACCTAGGTCCTTCCATGGGCGCACCTGGCCCTGTCCCTGCCTGGCCTTGCTCCCTGTCCATGCTCTGTCCATCCCTCAGCGTCCCGATGCGCCATGCTCTCTGGCCACCAGCCTTCACATCTGTGCTCCCTCTGCTTGGAACTCTGCTCTGCTATCTTTGCCAGACTCTTACTGATCCTTTGGATAACAGCTTAAAAGGTCTTCCTCCAAAAGGCCATTCCTGGCAACACTCTACCTCTGTAGCCCAGACCACGTCAGCTTCCCTCCTTCTATTCTACCCTTCTGTAGCATCACTTACTTTATTTTTAAAACTCTTGCCTTGTTAGGAATTAATAATTAAATAACATTTGTTTAATGTTTCCTCCTAAGCTTCATGGGAGAGGAGCCTGTGTCCCATTTGCTGCTGAACCCCAGTACCTAGCATAGTGCCTGGTACCTAATAGGTGCTCAATAAATTGTTGCTAAGTGGATGAATGAATGAGAGAAGGCTGGCTGGGCAGGGGTAGAGGAGCCCATCTCCATTCCTTGAGCCTCCAGTCCAGGAAAGCATCCCTGGGCACAGGCCACTAGCACAGGCTGAGGCAGGGCCGCCCCTCTTTGGACCTCATCACCGACATCATGTCCCCAAGGTCACAATAACTTCCTCTTCGGCCTTTTCTCCCTCTTCTCACCTCTAACCAGCGGAAGAGGTCAAGGGTCACTGCACATTGCCTCCAAAATCAATCAGGTAAACTATATAGGCAGAACCATCTCTCAGGCTCCAAAGTTTTGTACCCTGCCCGCAAGAAACCTCAAATAACAGGAATGTTGAGCCCAGTTCACGCAAGAGCAGAGCCTGAGTATTGGGAATGCGCAGGCCTGTCTGTGGCCCCAGGAACCCTGCTTATCTAGTTCCTCAGAATCCCCCCTACGAATCGCCTGCACACTCTGCAAGGCAGAGCTAAGGGCAGTGAGGGGCACCTCAGCGTCCACACACCACAGGGGCTCTGCAAACCAGCAAAGTAGGTATTTCCTTATCTGTGTCTCCTTTTGCTACGTCTCCCTTCAGGTTGCCCAGCTGGCCCTCAGCAGGTCTTTGTCCTTCATACTCCCCGCTCCCCAGGTCCCTGAGCTCCTCCCTGCCTGGCCCCATACCTGGGGAGACGATGCAGATGGCCATGAGCAGGACATGCTCCTCCTCATGCAAGTTCAGCTTCTTCAGTCCCACCTGGAACTTGATGAGGGGCTCAATCAGCTCCAGGCTCTGTCCGGCTGTGAGAGACAATGGCCAGGTACTGCGGGCAGAGCTGAGGAGCCGCCCACCCACCTCCAACCCCATGGGTCTGACCCTCGCCCTTCTCTCCCTGTTGGTGCCTAACTCCCTCCCATGTATCTGATTGGAGCCAAACCCCAGGACGGGTGGAGCCAGAATCTGGGAGCTGAAAAAGACTCCCCAGGAGGTGGAGTCTAGGCATACCTTTGGTCACGTCACTGACGCGGTACTTGTAGTCTTGGTTGCCACAGGTCCAGGACATGTCGTCCATGGTGAAGGACTCATTGGAGCGCAACATGATGACCTCAATGGCACTTGACTTCAGCAGTACGATCTGGTCCTCAGAGGTGAGGTCTCTGCAGGGGAGGGAGGGAAGGAGGTCAGGTTACCAGTAAACGCCTTCAAGCCACACAAATCAGTTTAGTGCTTTGACAGGTATACACCTGCTGGGCACCAACATGCACCCTGGGTCTTTCATCGAGGAGCTTGCAGGCTGGCTGGAAGGGACAAGAGTGTTCCTTGAGAGAGAACAGTTCAACACTGTGATCATGTGCCAAGGCCAGAAGTGAAGTAGCTCAGTTACTAAGACAAGAAAAACTCAGAGACCAAGCAGCCAGAGCTATGGGGCACAGGAAACGGAGCCCAGGGAAGTTCCCAGCATTGAGGCATGAATATGGTGGTCTGCAAAAGGTAGGGCCATGGTATCTTCAACAACACCCAAGTTTTCTCCTCCTCTCCCTCCTACTGTCCTCCAGTCCTTCTCAGTAGTAAATTCAGCCAACTCTGTCTCTAGGATGTCTCTCAAGCCCGTGATCTTATTCCCACTCCTACCAGGAGTGCCCTGGTTCAGAGCTCCAGCGTCTTTTCCAATAGCCTCTTACAGGAATCCCAGACTTGTGTCTCTCCAGTCTCTCATTCATCTTTCTTACCACTGCTGCAGGTCAATGTCCTCTTGCACTCAGAAATCTTCACTGACTCTCAAACACCCTAGGATCAGGCCCACACTCCCTAACTTGGCTCCAACCTCTCATTCCAACTCCCTTTCCCATGGTAAACTCCACCAACCTTCCATTCTAGCAGCATCATGCCACTCCACATTCAGATGCTGTGTGTTCTCACTGTGCCTTTTTTTTTTCTTGTGACAGGATCTCACTCTGTTGCTGAGGCTGGAGTGCAGTGTTATGATCATAGCATGCTACAGCCTCAAACTCCTGGGCTCAAGTGAGTCTCCCACCTCAGCCTTCCGAATAGCTAAGACTACAAGCATGCGCCACCATGCTCAGCTAATTTCTTTTATTAGTATTTTTAGAGACAGTGTCCTGTTCTGTCACACAAGCTGGAGTGCAACAGAATGATTATGGCTTACTGCAGCCTCAAACTCCTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCACACCATCACGCCTAGCTAATTTTTTTTGAGACGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTTCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGGCCAGCTAATTTTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTAGGCTTCCCAAAGTGCTGGGATTACAGGTGTACGCCTAGCTAATTTTTAAATTTTTTTTGTAGGGATGGTGTCTCACTATGTGGCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGTGATCCTCTCATCTTGGCCTCTCAAAGAACCAGGGTTACAGGTGTGAGCCACTGCACCCAGCCATCACCACGCCTTTCAGCATACTACAGCTCCAGCCAGGAATACCCTTCTAATTCTCCATTTTGTTTTTCTGGTCCTGAATCCACTGTGTTTTCCACTGGAGCCCCGCACCTTCTGACTCTTTAGCACAGTTAGGGCCATGTCATTGTGATGCCTTGAACAT
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Task1_train_17310
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This gene mutation involves VDR (vitamin D receptor) on Chromosome 12. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Vitamin D-dependent rickets type II with alopecia
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GGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCACGGGGATAGAGAAGAAGGCACAGGAGCTCTCAGCTGGGCCCCTCACTGCTCAATCCCACCACCCCCCACCCACACAGACACTCAACGGCAGCACCCCCTAGGCCACCCCTCTATGACTGCTGACCGGTGATACCACTGCCTGGCCCCAAAGCCCTCCAGTGACTTCTCCGTGCATTTAGGATCCAGACCTAGGTCCTTCCATGGGCGCACCTGGCCCTGTCCCTGCCTGGCCTTGCTCCCTGTCCATGCTCTGTCCATCCCTCAGCGTCCCGATGCGCCATGCTCTCTGGCCACCAGCCTTCACATCTGTGCTCCCTCTGCTTGGAACTCTGCTCTGCTATCTTTGCCAGACTCTTACTGATCCTTTGGATAACAGCTTAAAAGGTCTTCCTCCAAAAGGCCATTCCTGGCAACACTCTACCTCTGTAGCCCAGACCACGTCAGCTTCCCTCCTTCTATTCTACCCTTCTGTAGCATCACTTACTTTATTTTTAAAACTCTTGCCTTGTTAGGAATTAATAATTAAATAACATTTGTTTAATGTTTCCTCCTAAGCTTCATGGGAGAGGAGCCTGTGTCCCATTTGCTGCTGAACCCCAGTACCTAGCATAGTGCCTGGTACCTAATAGGTGCTCAATAAATTGTTGCTAAGTGGATGAATGAATGAGAGAAGGCTGGCTGGGCAGGGGTAGAGGAGCCCATCTCCATTCCTTGAGCCTCCAGTCCAGGAAAGCATCCCTGGGCACAGGCCACTAGCACAGGCTGAGGCAGGGCCGCCCCTCTTTGGACCTCATCACCGACATCATGTCCCCAAGGTCACAATAACTTCCTCTTCGGCCTTTTCTCCCTCTTCTCACCTCTAACCAGCGGAAGAGGTCAAGGGTCACTGCACATTGCCTCCAAAATCAATCAGGTAAACTATATAGGCAGAACCATCTCTCAGGCTCCAAAGTTTTGTACCCTGCCCGCAAGAAACCTCAAATAACAGGAATGTTGAGCCCAGTTCACGCAAGAGCAGAGCCTGAGTATTGGGAATGCGCAGGCCTGTCTGTGGCCCCAGGAACCCTGCTTATCTAGTTCCTCAGAATCCCCCCTACGAATCGCCTGCACACTCTGCAAGGCAGAGCTAAGGGCAGTGAGGGGCACCTCAGCGTCCACACACCACAGGGGCTCTGCAAACCAGCAAAGTAGGTATTTCCTTATCTGTGTCTCCTTTTGCTACGTCTCCCTTCAGGTTGCCCAGCTGGCCCTCAGCAGGTCTTTGTCCTTCATACTCCCCGCTCCCCAGGTCCCTGAGCTCCTCCCTGCCTGGCCCCATACCTGGGGAGACGATGCAGATGGCCATGAGCAGGACATGCTCCTCCTCATGCAAGTTCAGCTTCTTCAGTCCCACCTGGAACTTGATGAGGGGCTCAATCAGCTCCAGGCTGTGTCCGGCTGTGAGAGACAATGGCCAGGTACTGCGGGCAGAGCTGAGGAGCCGCCCACCCACCTCCAACCCCATGGGTCTGACCCTCGCCCTTCTCTCCCTGTTGGTGCCTAACTCCCTCCCATGTATCTGATTGGAGCCAAACCCCAGGACGGGTGGAGCCAGAATCTGGGAGCTGAAAAAGACTCCCCAGGAGGTGGAGTCTAGGCATACCTTTGGTCACGTCACTGACGCGGTACTTGTAGTCTTGGTTGCCACAGGTCCAGGACATGTCGTCCATGGTGAAGGACTCATTGGAGCGCAACATGATGACCTCAATGGCACTTGACTTCAGCAGTACGATCTGGTCCTCAGAGGTGAGGTCTCTGCAGGGGAGGGAGGGAAGGAGGTCAGGTTACCAGTAAACGCCTTCAAGCCACACAAATCAGTTTAGTGCTTTGACAGGTATACACCTGCTGGGCACCAACATGCACCCTGGGTCTTTCATCGAGGAGCTTGCAGGCTGGCTGGAAGGGACAAGAGTGTTCCTTGAGAGAGAACAGTTCAACACTGTGATCATGTGCCAAGGCCAGAAGTGAAGTAGCTCAGTTACTAAGACAAGAAAAACTCAGAGACCAAGCAGCCAGAGCTATGGGGCACAGGAAACGGAGCCCAGGGAAGTTCCCAGCATTGAGGCATGAATATGGTGGTCTGCAAAAGGTAGGGCCATGGTATCTTCAACAACACCCAAGTTTTCTCCTCCTCTCCCTCCTACTGTCCTCCAGTCCTTCTCAGTAGTAAATTCAGCCAACTCTGTCTCTAGGATGTCTCTCAAGCCCGTGATCTTATTCCCACTCCTACCAGGAGTGCCCTGGTTCAGAGCTCCAGCGTCTTTTCCAATAGCCTCTTACAGGAATCCCAGACTTGTGTCTCTCCAGTCTCTCATTCATCTTTCTTACCACTGCTGCAGGTCAATGTCCTCTTGCACTCAGAAATCTTCACTGACTCTCAAACACCCTAGGATCAGGCCCACACTCCCTAACTTGGCTCCAACCTCTCATTCCAACTCCCTTTCCCATGGTAAACTCCACCAACCTTCCATTCTAGCAGCATCATGCCACTCCACATTCAGATGCTGTGTGTTCTCACTGTGCCTTTTTTTTTTCTTGTGACAGGATCTCACTCTGTTGCTGAGGCTGGAGTGCAGTGTTATGATCATAGCATGCTACAGCCTCAAACTCCTGGGCTCAAGTGAGTCTCCCACCTCAGCCTTCCGAATAGCTAAGACTACAAGCATGCGCCACCATGCTCAGCTAATTTCTTTTATTAGTATTTTTAGAGACAGTGTCCTGTTCTGTCACACAAGCTGGAGTGCAACAGAATGATTATGGCTTACTGCAGCCTCAAACTCCTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCACACCATCACGCCTAGCTAATTTTTTTTGAGACGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTTCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGGCCAGCTAATTTTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTAGGCTTCCCAAAGTGCTGGGATTACAGGTGTACGCCTAGCTAATTTTTAAATTTTTTTTGTAGGGATGGTGTCTCACTATGTGGCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGTGATCCTCTCATCTTGGCCTCTCAAAGAACCAGGGTTACAGGTGTGAGCCACTGCACCCAGCCATCACCACGCCTTTCAGCATACTACAGCTCCAGCCAGGAATACCCTTCTAATTCTCCATTTTGTTTTTCTGGTCCTGAATCCACTGTGTTTTCCACTGGAGCCCCGCACCTTCTGACTCTTTAGCACAGTTAGGGCCATGTCATTGTGATGCCTTGAACATTGCTGGTGCTCTTATTTTGCCCGTCTCCTCCAGTTCTGCTCTTTACATGCTTGTTTTCTACTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGAGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTAGAGGCACCTGCCACCACACTCAGCTAATTTTTGTATTTTTAGTAGAGAC
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GGGCTGCTGAGTAGCCGCCAGCCCCGGGCCTGGCACGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCACGGGGATAGAGAAGAAGGCACAGGAGCTCTCAGCTGGGCCCCTCACTGCTCAATCCCACCACCCCCCACCCACACAGACACTCAACGGCAGCACCCCCTAGGCCACCCCTCTATGACTGCTGACCGGTGATACCACTGCCTGGCCCCAAAGCCCTCCAGTGACTTCTCCGTGCATTTAGGATCCAGACCTAGGTCCTTCCATGGGCGCACCTGGCCCTGTCCCTGCCTGGCCTTGCTCCCTGTCCATGCTCTGTCCATCCCTCAGCGTCCCGATGCGCCATGCTCTCTGGCCACCAGCCTTCACATCTGTGCTCCCTCTGCTTGGAACTCTGCTCTGCTATCTTTGCCAGACTCTTACTGATCCTTTGGATAACAGCTTAAAAGGTCTTCCTCCAAAAGGCCATTCCTGGCAACACTCTACCTCTGTAGCCCAGACCACGTCAGCTTCCCTCCTTCTATTCTACCCTTCTGTAGCATCACTTACTTTATTTTTAAAACTCTTGCCTTGTTAGGAATTAATAATTAAATAACATTTGTTTAATGTTTCCTCCTAAGCTTCATGGGAGAGGAGCCTGTGTCCCATTTGCTGCTGAACCCCAGTACCTAGCATAGTGCCTGGTACCTAATAGGTGCTCAATAAATTGTTGCTAAGTGGATGAATGAATGAGAGAAGGCTGGCTGGGCAGGGGTAGAGGAGCCCATCTCCATTCCTTGAGCCTCCAGTCCAGGAAAGCATCCCTGGGCACAGGCCACTAGCACAGGCTGAGGCAGGGCCGCCCCTCTTTGGACCTCATCACCGACATCATGTCCCCAAGGTCACAATAACTTCCTCTTCGGCCTTTTCTCCCTCTTCTCACCTCTAACCAGCGGAAGAGGTCAAGGGTCACTGCACATTGCCTCCAAAATCAATCAGGTAAACTATATAGGCAGAACCATCTCTCAGGCTCCAAAGTTTTGTACCCTGCCCGCAAGAAACCTCAAATAACAGGAATGTTGAGCCCAGTTCACGCAAGAGCAGAGCCTGAGTATTGGGAATGCGCAGGCCTGTCTGTGGCCCCAGGAACCCTGCTTATCTAGTTCCTCAGAATCCCCCCTACGAATCGCCTGCACACTCTGCAAGGCAGAGCTAAGGGCAGTGAGGGGCACCTCAGCGTCCACACACCACAGGGGCTCTGCAAACCAGCAAAGTAGGTATTTCCTTATCTGTGTCTCCTTTTGCTACGTCTCCCTTCAGGTTGCCCAGCTGGCCCTCAGCAGGTCTTTGTCCTTCATACTCCCCGCTCCCCAGGTCCCTGAGCTCCTCCCTGCCTGGCCCCATACCTGGGGAGACGATGCAGATGGCCATGAGCAGGACATGCTCCTCCTCATGCAAGTTCAGCTTCTTCAGTCCCACCTGGAACTTGATGAGGGGCTCAATCAGCTCCAGGCTGTGTCCGGCTGTGAGAGACAATGGCCAGGTACTGCGGGCAGAGCTGAGGAGCCGCCCACCCACCTCCAACCCCATGGGTCTGACCCTCGCCCTTCTCTCCCTGTTGGTGCCTAACTCCCTCCCATGTATCTGATTGGAGCCAAACCCCAGGACGGGTGGAGCCAGAATCTGGGAGCTGAAAAAGACTCCCCAGGAGGTGGAGTCTAGGCATACCTTTGGTCACGTCACTGACGCGGTACTTGTAGTCTTGGTTGCCACAGGTCCGGGACATGTCGTCCATGGTGAAGGACTCATTGGAGCGCAACATGATGACCTCAATGGCACTTGACTTCAGCAGTACGATCTGGTCCTCAGAGGTGAGGTCTCTGCAGGGGAGGGAGGGAAGGAGGTCAGGTTACCAGTAAACGCCTTCAAGCCACACAAATCAGTTTAGTGCTTTGACAGGTATACACCTGCTGGGCACCAACATGCACCCTGGGTCTTTCATCGAGGAGCTTGCAGGCTGGCTGGAAGGGACAAGAGTGTTCCTTGAGAGAGAACAGTTCAACACTGTGATCATGTGCCAAGGCCAGAAGTGAAGTAGCTCAGTTACTAAGACAAGAAAAACTCAGAGACCAAGCAGCCAGAGCTATGGGGCACAGGAAACGGAGCCCAGGGAAGTTCCCAGCATTGAGGCATGAATATGGTGGTCTGCAAAAGGTAGGGCCATGGTATCTTCAACAACACCCAAGTTTTCTCCTCCTCTCCCTCCTACTGTCCTCCAGTCCTTCTCAGTAGTAAATTCAGCCAACTCTGTCTCTAGGATGTCTCTCAAGCCCGTGATCTTATTCCCACTCCTACCAGGAGTGCCCTGGTTCAGAGCTCCAGCGTCTTTTCCAATAGCCTCTTACAGGAATCCCAGACTTGTGTCTCTCCAGTCTCTCATTCATCTTTCTTACCACTGCTGCAGGTCAATGTCCTCTTGCACTCAGAAATCTTCACTGACTCTCAAACACCCTAGGATCAGGCCCACACTCCCTAACTTGGCTCCAACCTCTCATTCCAACTCCCTTTCCCATGGTAAACTCCACCAACCTTCCATTCTAGCAGCATCATGCCACTCCACATTCAGATGCTGTGTGTTCTCACTGTGCCTTTTTTTTTTCTTGTGACAGGATCTCACTCTGTTGCTGAGGCTGGAGTGCAGTGTTATGATCATAGCATGCTACAGCCTCAAACTCCTGGGCTCAAGTGAGTCTCCCACCTCAGCCTTCCGAATAGCTAAGACTACAAGCATGCGCCACCATGCTCAGCTAATTTCTTTTATTAGTATTTTTAGAGACAGTGTCCTGTTCTGTCACACAAGCTGGAGTGCAACAGAATGATTATGGCTTACTGCAGCCTCAAACTCCTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCACACCATCACGCCTAGCTAATTTTTTTTGAGACGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTTCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGGCCAGCTAATTTTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTAGGCTTCCCAAAGTGCTGGGATTACAGGTGTACGCCTAGCTAATTTTTAAATTTTTTTTGTAGGGATGGTGTCTCACTATGTGGCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGTGATCCTCTCATCTTGGCCTCTCAAAGAACCAGGGTTACAGGTGTGAGCCACTGCACCCAGCCATCACCACGCCTTTCAGCATACTACAGCTCCAGCCAGGAATACCCTTCTAATTCTCCATTTTGTTTTTCTGGTCCTGAATCCACTGTGTTTTCCACTGGAGCCCCGCACCTTCTGACTCTTTAGCACAGTTAGGGCCATGTCATTGTGATGCCTTGAACATTGCTGGTGCTCTTATTTTGCCCGTCTCCTCCAGTTCTGCTCTTTACATGCTTGTTTTCTACTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGAGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTAGAGGCACCTGCCACCACACTCAGCTAATTTTTGTATTTTTAGTAGAGAC
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Task1_train_17311
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This alteration in VDR (vitamin D receptor) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Vitamin D-dependent rickets type II with alopecia
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CGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCACGGGGATAGAGAAGAAGGCACAGGAGCTCTCAGCTGGGCCCCTCACTGCTCAATCCCACCACCCCCCACCCACACAGACACTCAACGGCAGCACCCCCTAGGCCACCCCTCTATGACTGCTGACCGGTGATACCACTGCCTGGCCCCAAAGCCCTCCAGTGACTTCTCCGTGCATTTAGGATCCAGACCTAGGTCCTTCCATGGGCGCACCTGGCCCTGTCCCTGCCTGGCCTTGCTCCCTGTCCATGCTCTGTCCATCCCTCAGCGTCCCGATGCGCCATGCTCTCTGGCCACCAGCCTTCACATCTGTGCTCCCTCTGCTTGGAACTCTGCTCTGCTATCTTTGCCAGACTCTTACTGATCCTTTGGATAACAGCTTAAAAGGTCTTCCTCCAAAAGGCCATTCCTGGCAACACTCTACCTCTGTAGCCCAGACCACGTCAGCTTCCCTCCTTCTATTCTACCCTTCTGTAGCATCACTTACTTTATTTTTAAAACTCTTGCCTTGTTAGGAATTAATAATTAAATAACATTTGTTTAATGTTTCCTCCTAAGCTTCATGGGAGAGGAGCCTGTGTCCCATTTGCTGCTGAACCCCAGTACCTAGCATAGTGCCTGGTACCTAATAGGTGCTCAATAAATTGTTGCTAAGTGGATGAATGAATGAGAGAAGGCTGGCTGGGCAGGGGTAGAGGAGCCCATCTCCATTCCTTGAGCCTCCAGTCCAGGAAAGCATCCCTGGGCACAGGCCACTAGCACAGGCTGAGGCAGGGCCGCCCCTCTTTGGACCTCATCACCGACATCATGTCCCCAAGGTCACAATAACTTCCTCTTCGGCCTTTTCTCCCTCTTCTCACCTCTAACCAGCGGAAGAGGTCAAGGGTCACTGCACATTGCCTCCAAAATCAATCAGGTAAACTATATAGGCAGAACCATCTCTCAGGCTCCAAAGTTTTGTACCCTGCCCGCAAGAAACCTCAAATAACAGGAATGTTGAGCCCAGTTCACGCAAGAGCAGAGCCTGAGTATTGGGAATGCGCAGGCCTGTCTGTGGCCCCAGGAACCCTGCTTATCTAGTTCCTCAGAATCCCCCCTACGAATCGCCTGCACACTCTGCAAGGCAGAGCTAAGGGCAGTGAGGGGCACCTCAGCGTCCACACACCACAGGGGCTCTGCAAACCAGCAAAGTAGGTATTTCCTTATCTGTGTCTCCTTTTGCTACGTCTCCCTTCAGGTTGCCCAGCTGGCCCTCAGCAGGTCTTTGTCCTTCATACTCCCCGCTCCCCAGGTCCCTGAGCTCCTCCCTGCCTGGCCCCATACCTGGGGAGACGATGCAGATGGCCATGAGCAGGACATGCTCCTCCTCATGCAAGTTCAGCTTCTTCAGTCCCACCTGGAACTTGATGAGGGGCTCAATCAGCTCCAGGCTGTGTCCGGCTGTGAGAGACAATGGCCAGGTACTGCGGGCAGAGCTGAGGAGCCGCCCACCCACCTCCAACCCCATGGGTCTGACCCTCGCCCTTCTCTCCCTGTTGGTGCCTAACTCCCTCCCATGTATCTGATTGGAGCCAAACCCCAGGACGGGTGGAGCCAGAATCTGGGAGCTGAAAAAGACTCCCCAGGAGGTGGAGTCTAGGCATACCTTTGGTCACGTCACTGACGCGGTACTTGTAGTCTTGGTTGCCACAGGTCCAGGACATGTCGTCCATGGTGAAGGACTCATTGGAGCGCAACATGATGACCTCAATGGCACTTGACTTCAGCAGTACGATCTGGTCCTCAGAGGTGAGGTCTCTGCAGGGGAGGGAGGGAAGGAGGTCAGGTTACCAGTAAACGCCTTCAAGCCACACAAATCAGTTTAGTGCTTTGACAGGTATACACCTGCTGGGCACCAACATGCACCCTGGGTCTTTCATCGAGGAGCTTGCAGGCTGGCTGGAAGGGACAAGAGTGTTCCTTGAGAGAGAACAGTTCAACACTGTGATCATGTGCCAAGGCCAGAAGTGAAGTAGCTCAGTTACTAAGACAAGAAAAACTCAGAGACCAAGCAGCCAGAGCTATGGGGCACAGGAAACGGAGCCCAGGGAAGTTCCCAGCATTGAGGCATGAATATGGTGGTCTGCAAAAGGTAGGGCCATGGTATCTTCAACAACACCCAAGTTTTCTCCTCCTCTCCCTCCTACTGTCCTCCAGTCCTTCTCAGTAGTAAATTCAGCCAACTCTGTCTCTAGGATGTCTCTCAAGCCCGTGATCTTATTCCCACTCCTACCAGGAGTGCCCTGGTTCAGAGCTCCAGCGTCTTTTCCAATAGCCTCTTACAGGAATCCCAGACTTGTGTCTCTCCAGTCTCTCATTCATCTTTCTTACCACTGCTGCAGGTCAATGTCCTCTTGCACTCAGAAATCTTCACTGACTCTCAAACACCCTAGGATCAGGCCCACACTCCCTAACTTGGCTCCAACCTCTCATTCCAACTCCCTTTCCCATGGTAAACTCCACCAACCTTCCATTCTAGCAGCATCATGCCACTCCACATTCAGATGCTGTGTGTTCTCACTGTGCCTTTTTTTTTTCTTGTGACAGGATCTCACTCTGTTGCTGAGGCTGGAGTGCAGTGTTATGATCATAGCATGCTACAGCCTCAAACTCCTGGGCTCAAGTGAGTCTCCCACCTCAGCCTTCCGAATAGCTAAGACTACAAGCATGCGCCACCATGCTCAGCTAATTTCTTTTATTAGTATTTTTAGAGACAGTGTCCTGTTCTGTCACACAAGCTGGAGTGCAACAGAATGATTATGGCTTACTGCAGCCTCAAACTCCTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCACACCATCACGCCTAGCTAATTTTTTTTGAGACGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTTCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGGCCAGCTAATTTTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTAGGCTTCCCAAAGTGCTGGGATTACAGGTGTACGCCTAGCTAATTTTTAAATTTTTTTTGTAGGGATGGTGTCTCACTATGTGGCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGTGATCCTCTCATCTTGGCCTCTCAAAGAACCAGGGTTACAGGTGTGAGCCACTGCACCCAGCCATCACCACGCCTTTCAGCATACTACAGCTCCAGCCAGGAATACCCTTCTAATTCTCCATTTTGTTTTTCTGGTCCTGAATCCACTGTGTTTTCCACTGGAGCCCCGCACCTTCTGACTCTTTAGCACAGTTAGGGCCATGTCATTGTGATGCCTTGAACATTGCTGGTGCTCTTATTTTGCCCGTCTCCTCCAGTTCTGCTCTTTACATGCTTGTTTTCTACTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGAGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTAGAGGCACCTGCCACCACACTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAAC
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CGTGGCCCTGGAGGAGCAGCCCCACCCAGGCACCGCCACAGGCTGTCCTAGTCAGGAGATCTCATTGCCAAACACTTCGAGCACAAGGGGCGTTAGCTTCATGCTGCACTCAGGCTGGAAGGAGAGGCAGCGGTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGGCGGCAGCGGATGTACGTCTGCAGTGTGTTGGACAGGCGGTCCTGGATGGCCTCAATCAGCGCGGCGTCCTGCACCCCAGGACGATCTGTGGGCACGGGGATAGAGAAGAAGGCACAGGAGCTCTCAGCTGGGCCCCTCACTGCTCAATCCCACCACCCCCCACCCACACAGACACTCAACGGCAGCACCCCCTAGGCCACCCCTCTATGACTGCTGACCGGTGATACCACTGCCTGGCCCCAAAGCCCTCCAGTGACTTCTCCGTGCATTTAGGATCCAGACCTAGGTCCTTCCATGGGCGCACCTGGCCCTGTCCCTGCCTGGCCTTGCTCCCTGTCCATGCTCTGTCCATCCCTCAGCGTCCCGATGCGCCATGCTCTCTGGCCACCAGCCTTCACATCTGTGCTCCCTCTGCTTGGAACTCTGCTCTGCTATCTTTGCCAGACTCTTACTGATCCTTTGGATAACAGCTTAAAAGGTCTTCCTCCAAAAGGCCATTCCTGGCAACACTCTACCTCTGTAGCCCAGACCACGTCAGCTTCCCTCCTTCTATTCTACCCTTCTGTAGCATCACTTACTTTATTTTTAAAACTCTTGCCTTGTTAGGAATTAATAATTAAATAACATTTGTTTAATGTTTCCTCCTAAGCTTCATGGGAGAGGAGCCTGTGTCCCATTTGCTGCTGAACCCCAGTACCTAGCATAGTGCCTGGTACCTAATAGGTGCTCAATAAATTGTTGCTAAGTGGATGAATGAATGAGAGAAGGCTGGCTGGGCAGGGGTAGAGGAGCCCATCTCCATTCCTTGAGCCTCCAGTCCAGGAAAGCATCCCTGGGCACAGGCCACTAGCACAGGCTGAGGCAGGGCCGCCCCTCTTTGGACCTCATCACCGACATCATGTCCCCAAGGTCACAATAACTTCCTCTTCGGCCTTTTCTCCCTCTTCTCACCTCTAACCAGCGGAAGAGGTCAAGGGTCACTGCACATTGCCTCCAAAATCAATCAGGTAAACTATATAGGCAGAACCATCTCTCAGGCTCCAAAGTTTTGTACCCTGCCCGCAAGAAACCTCAAATAACAGGAATGTTGAGCCCAGTTCACGCAAGAGCAGAGCCTGAGTATTGGGAATGCGCAGGCCTGTCTGTGGCCCCAGGAACCCTGCTTATCTAGTTCCTCAGAATCCCCCCTACGAATCGCCTGCACACTCTGCAAGGCAGAGCTAAGGGCAGTGAGGGGCACCTCAGCGTCCACACACCACAGGGGCTCTGCAAACCAGCAAAGTAGGTATTTCCTTATCTGTGTCTCCTTTTGCTACGTCTCCCTTCAGGTTGCCCAGCTGGCCCTCAGCAGGTCTTTGTCCTTCATACTCCCCGCTCCCCAGGTCCCTGAGCTCCTCCCTGCCTGGCCCCATACCTGGGGAGACGATGCAGATGGCCATGAGCAGGACATGCTCCTCCTCATGCAAGTTCAGCTTCTTCAGTCCCACCTGGAACTTGATGAGGGGCTCAATCAGCTCCAGGCTGTGTCCGGCTGTGAGAGACAATGGCCAGGTACTGCGGGCAGAGCTGAGGAGCCGCCCACCCACCTCCAACCCCATGGGTCTGACCCTCGCCCTTCTCTCCCTGTTGGTGCCTAACTCCCTCCCATGTATCTGATTGGAGCCAAACCCCAGGACGGGTGGAGCCAGAATCTGGGAGCTGAAAAAGACTCCCCAGGAGGTGGAGTCTAGGCATACCTTTGGTCACGTCACTGACGCGGTACTTGTAGTCTTGGTTGCCACAGGTCCAGGACATGTCGTCCATGGTGAAGGACTCATTGGAGAGCAACATGATGACCTCAATGGCACTTGACTTCAGCAGTACGATCTGGTCCTCAGAGGTGAGGTCTCTGCAGGGGAGGGAGGGAAGGAGGTCAGGTTACCAGTAAACGCCTTCAAGCCACACAAATCAGTTTAGTGCTTTGACAGGTATACACCTGCTGGGCACCAACATGCACCCTGGGTCTTTCATCGAGGAGCTTGCAGGCTGGCTGGAAGGGACAAGAGTGTTCCTTGAGAGAGAACAGTTCAACACTGTGATCATGTGCCAAGGCCAGAAGTGAAGTAGCTCAGTTACTAAGACAAGAAAAACTCAGAGACCAAGCAGCCAGAGCTATGGGGCACAGGAAACGGAGCCCAGGGAAGTTCCCAGCATTGAGGCATGAATATGGTGGTCTGCAAAAGGTAGGGCCATGGTATCTTCAACAACACCCAAGTTTTCTCCTCCTCTCCCTCCTACTGTCCTCCAGTCCTTCTCAGTAGTAAATTCAGCCAACTCTGTCTCTAGGATGTCTCTCAAGCCCGTGATCTTATTCCCACTCCTACCAGGAGTGCCCTGGTTCAGAGCTCCAGCGTCTTTTCCAATAGCCTCTTACAGGAATCCCAGACTTGTGTCTCTCCAGTCTCTCATTCATCTTTCTTACCACTGCTGCAGGTCAATGTCCTCTTGCACTCAGAAATCTTCACTGACTCTCAAACACCCTAGGATCAGGCCCACACTCCCTAACTTGGCTCCAACCTCTCATTCCAACTCCCTTTCCCATGGTAAACTCCACCAACCTTCCATTCTAGCAGCATCATGCCACTCCACATTCAGATGCTGTGTGTTCTCACTGTGCCTTTTTTTTTTCTTGTGACAGGATCTCACTCTGTTGCTGAGGCTGGAGTGCAGTGTTATGATCATAGCATGCTACAGCCTCAAACTCCTGGGCTCAAGTGAGTCTCCCACCTCAGCCTTCCGAATAGCTAAGACTACAAGCATGCGCCACCATGCTCAGCTAATTTCTTTTATTAGTATTTTTAGAGACAGTGTCCTGTTCTGTCACACAAGCTGGAGTGCAACAGAATGATTATGGCTTACTGCAGCCTCAAACTCCTGGGCTCAAGCAGTCCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCACACCATCACGCCTAGCTAATTTTTTTTGAGACGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTTCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGGCCAGCTAATTTTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTAGGCTTCCCAAAGTGCTGGGATTACAGGTGTACGCCTAGCTAATTTTTAAATTTTTTTTGTAGGGATGGTGTCTCACTATGTGGCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGTGATCCTCTCATCTTGGCCTCTCAAAGAACCAGGGTTACAGGTGTGAGCCACTGCACCCAGCCATCACCACGCCTTTCAGCATACTACAGCTCCAGCCAGGAATACCCTTCTAATTCTCCATTTTGTTTTTCTGGTCCTGAATCCACTGTGTTTTCCACTGGAGCCCCGCACCTTCTGACTCTTTAGCACAGTTAGGGCCATGTCATTGTGATGCCTTGAACATTGCTGGTGCTCTTATTTTGCCCGTCTCCTCCAGTTCTGCTCTTTACATGCTTGTTTTCTACTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGAGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTAGAGGCACCTGCCACCACACTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAAC
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Task1_train_17312
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Chromosome 12 houses a mutation in gene VDR (vitamin D receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Vitamin D-dependent rickets type II with alopecia
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AGGCTGGGGTGGGCGTGGCTGAGGGATGGGGTGGACATCGCTTCTGGGCTGCTGGGTTCCCACCACGTGGTAGGGTGCTCCTGGGCAGGGCCCCCTGATTTACCCCAGGCTGGTGCTGCTCTTCACCATGGATGCAGCGCTGTTTATGGGGACCAGGAGGCAGGTAGGAGGGGACATGAAGTCTGATTCTAGTCCCAGCTTGGCCACCAACTTGCTTTCTGACCCCAGACCTGAGGTCTTTACCTCTCTGAGTCTCAGATGTTCTTTCTATTTTAAGTCAGTAAGACATCCTCTTCCTCCTGAGGTAGGAGAGGGGCCTCTTGGGCATCAGTGAGCTTAGTCCTGAGGGGAACTCCTGTGGCAGTGCCTTACGAACCACTGCAGTGGAACCTCGTGCCAGTCTTGGTTAGCTGGAGCTTTAGAAACCGGACTCCCTGCTTTGCAGAGGCTGTCTTCTCTGCGGAGATGGGACTGTGCTGAGCACACCTTGTTGGTGCCCACCCTAACGCCTCACCCTGAGCAGGGCCCACTGAGAATGTGTGTGAAGCCTCTTAAGGCACCCGGGCCTCCAGCCTCCACTTCTTATTCTCTCCAGGATAAACACAGGAGCCAGGGCGTGGCAGGGACTAGGGTAGGAGCGACCAGCGTGCCCAGGCCTGCACCCTGTGATGGTGTGGAGAAACCACAGCCCTGGAAACACCTTTCAGGGCTGCCAGTGTTGGCTGGGGAGCCGTCAGATCAGGAGGGAGGAGTCATGACCCACAGAAGAGAAGCCTAGGTCAAGGCCCAAAGAGGAAGCCCAGGGTCAGGGCCTCAGCTCTGCCTCTGTGTCCCAACAACAGATAATTTTTTTCCCATTAACGGAGAAATTTGCTATCCTCTAAGCCCTGTTCTGTGACTTATCCTCTGTCCCTGACACATCTTCCTGTTACCTGACCTCTCCCCATCCCCAACCACTCCAAACGGTCCCATAGCCAGGAGGGTCCGCATCTGAGCAACATCCCCACCCCGACTCCGACTCCGATTCCTCAGACCCACAGCTAGGAGGGCCTGGGTTCTGTCCTAGGGCCGGGTGGGGGTCTGGATGCAGATGGCAGACAGGAGTGAGCAAGAGAAGGAGAAAAAGGAATGAGTGTACAGAGAGCACCCATGCCCAGCTGGCCTTGCTCCAGCCCAGAGAGGGCCAGGCTGGCCCCTCCCAGCATCTACTGAATTCAATGCCTACTCTAGTTACCAAATAACTGTCCTAGAGCTCTGATGCAAAGTTCAAGTGTTGTTTTCAGTGATGGGTCAAAATATCCATGTAAATATGCCATGTTGGTCTTCTCCAACCCCAGAGAGGGACAGGAAGTCCTATAGAATCACTCCTCTTTCTCCATCTGGATTCAGAGGGTCGTCCTAGAACCCAGTGCTTCCCCTGGCAGACTCTTTCCTCCTGGTCTCTCCCTGGCACAAGCCCTCAGATCTGCTCAAGGCGCCAGAGAGGCTGGGAGGCTGGGGTGGGACAGAACGTGGATGCCAACTATGCTCTGAATACTAATTCTCCCCATCACTCCTGCCCTTCCTAACCCACATCAGCCCTCTCTTCCCAAGCCCATAGAACCTGGGGGTCCTTGAACCTCATTCTTCCCTCTAGGTCCGAGTAACAGGGAGCTGTGAAAAAAGAATGACATCCTGGAGGAAGACCCTGACCCAGGAGTAGAAGGGACTCTTGAAGGCAGTGTCCGGCCTCTCCTTCCTCTCAGGCCCCACTCTGGAGGGACCCTTCCAGGGCCTCTGACACCAACACACAGATCCTCAAGAGGTGCACAGGGCCGCTGAGTGCATCTGACCCTGGACTTCCAGCTGCCCTGTCACCAGCTGCTGGTCCCACTGAGGCCCTGGCCCCAGATGCTGGCAGCTACAGAGGAAGGGCAGGCAGACCCTCTGCCCAAACTTGCAGGAGAGTGGCCAAGGCCTTTCCCTGACTCCACTTCAGGCCCAAACCCTGCCCAGCCCCTGGACACTCACACTCCTTCATCATGCCGATGTCCACACAGCGTTTGAGCCGGCAGGCCTGGCAGTGGCGTCGGTTGTCCTTGGTGATGCGGCAGTCCCCGTTGAAGGGGCAGGTGAATAGTGCCTTCCGCTTCATGCTTCGCCTGCCGAGAGAGCACACACCCTGCCCTGGGTCACTGAACTTCCGGCTCCTCACCCTGTCATCACGGAGACCTGTCTTCTGGGCCCCCTGGTCTCCATTTCTCCAACAGAAGACATGAGGCCCACCCCAGCTGCCAGTCACTCTCACCTCTAGGCTGGGCACCAAACGATTCCTACTTCTCCTTTCATTGCCTGCCCAGCTCCAATCATGGCTTGTACTTACCTTTTTTCTTTTAATTTTTGTTTCTTTTGGGGGGACAGGGTGTTGCTTTGTAGCCCAGGCTGGAATGCAGTGGCATGATCTCAGCTCACTGCAGGCTGGACCTCCTGGGTTCAAGTAATCCTCCTGCTTCAGCCTCCAGTATAGCTGGGATTACAGGTGCATACCACCATGCCTGGCTAATTTTTTGATTTTTTTGTAAAAATGGGGTCTCACTATGTTGCCCAGGCTAGTCTGGAACTCCTGGGCTGAAGCAATCCTCTATCCTAGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCACTGCACTCCGACTCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCACTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCCCGCCACCACTCCTGGCTAATTTTTTTTTGTATTTTTAGTAGAAATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCACAGCCACGCCCCGACTCTTATACTTATTTTACAGTACTCTGTTCCCCTTCCCATTTTAAAAAATTAAACAGGAAATAACAAAAGTGCATTTCCCTAGAAAAAACCCTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGTTGCGATCTCAGCTCACTGCAAGCTCCACCTCCTGGGTTCATGCCGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCGCACCCGGCTAATTCTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGTGCCTGGCCGAAGAAACCTTTTTAAATATTGAAATCTCCAGAGTAGCCAGCATAATAACATTTAATGAGCCGCTATGAGAAGTAAGGATGCTAGTCTCAGCATGAAGTCTTCTAGATTCTAGAGACCTGTGACTGGAATAGCTCCTGTTCCAGGGATAGATGTGTACATGGAAGGAAGAAAAGGCCCAAACCATAGCTCTAGACATCCCAGAACCTGCCCAGAAAAAGAAGGGGCCAGACAAGCAGGTGGAAATCCTGAGGCCTGGCCTTGGGTTTTTTGAAAGGAAGAGGAAGCAGGAGCTCTGTAGGAACAGAAAACTAGAGCTGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGTGGGCGGATCATCTGAGGTAAGGAGTTTGAGACCAGCCTGGCCAACATGCCAAAACTCCGTCTCTACTAAAAATACAAAAATTAGTTGGCCATGATGGTGCATGCCTGTAGTCCCAGCTACTTGGGGGCTGGGAGCTGAGGCAGGAGAGTCGTTTGAACCCAGGAGGTAGAGGTTGCAGTAGGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAACAAAACAAAACAAAACAAAAAAAACCCAGAAAACTACTGAAGTGTTCTTAGCTAGAAAGGTGGCACCCTTGAGGCTGGGTGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGTGG
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AGGCTGGGGTGGGCGTGGCTGAGGGATGGGGTGGACATCGCTTCTGGGCTGCTGGGTTCCCACCACGTGGTAGGGTGCTCCTGGGCAGGGCCCCCTGATTTACCCCAGGCTGGTGCTGCTCTTCACCATGGATGCAGCGCTGTTTATGGGGACCAGGAGGCAGGTAGGAGGGGACATGAAGTCTGATTCTAGTCCCAGCTTGGCCACCAACTTGCTTTCTGACCCCAGACCTGAGGTCTTTACCTCTCTGAGTCTCAGATGTTCTTTCTATTTTAAGTCAGTAAGACATCCTCTTCCTCCTGAGGTAGGAGAGGGGCCTCTTGGGCATCAGTGAGCTTAGTCCTGAGGGGAACTCCTGTGGCAGTGCCTTACGAACCACTGCAGTGGAACCTCGTGCCAGTCTTGGTTAGCTGGAGCTTTAGAAACCGGACTCCCTGCTTTGCAGAGGCTGTCTTCTCTGCGGAGATGGGACTGTGCTGAGCACACCTTGTTGGTGCCCACCCTAACGCCTCACCCTGAGCAGGGCCCACTGAGAATGTGTGTGAAGCCTCTTAAGGCACCCGGGCCTCCAGCCTCCACTTCTTATTCTCTCCAGGATAAACACAGGAGCCAGGGCGTGGCAGGGACTAGGGTAGGAGCGACCAGCGTGCCCAGGCCTGCACCCTGTGATGGTGTGGAGAAACCACAGCCCTGGAAACACCTTTCAGGGCTGCCAGTGTTGGCTGGGGAGCCGTCAGATCAGGAGGGAGGAGTCATGACCCACAGAAGAGAAGCCTAGGTCAAGGCCCAAAGAGGAAGCCCAGGGTCAGGGCCTCAGCTCTGCCTCTGTGTCCCAACAACAGATAATTTTTTTCCCATTAACGGAGAAATTTGCTATCCTCTAAGCCCTGTTCTGTGACTTATCCTCTGTCCCTGACACATCTTCCTGTTACCTGACCTCTCCCCATCCCCAACCACTCCAAACGGTCCCATAGCCAGGAGGGTCCGCATCTGAGCAACATCCCCACCCCGACTCCGACTCCGATTCCTCAGACCCACAGCTAGGAGGGCCTGGGTTCTGTCCTAGGGCCGGGTGGGGGTCTGGATGCAGATGGCAGACAGGAGTGAGCAAGAGAAGGAGAAAAAGGAATGAGTGTACAGAGAGCACCCATGCCCAGCTGGCCTTGCTCCAGCCCAGAGAGGGCCAGGCTGGCCCCTCCCAGCATCTACTGAATTCAATGCCTACTCTAGTTACCAAATAACTGTCCTAGAGCTCTGATGCAAAGTTCAAGTGTTGTTTTCAGTGATGGGTCAAAATATCCATGTAAATATGCCATGTTGGTCTTCTCCAACCCCAGAGAGGGACAGGAAGTCCTATAGAATCACTCCTCTTTCTCCATCTGGATTCAGAGGGTCGTCCTAGAACCCAGTGCTTCCCCTGGCAGACTCTTTCCTCCTGGTCTCTCCCTGGCACAAGCCCTCAGATCTGCTCAAGGCGCCAGAGAGGCTGGGAGGCTGGGGTGGGACAGAACGTGGATGCCAACTATGCTCTGAATACTAATTCTCCCCATCACTCCTGCCCTTCCTAACCCACATCAGCCCTCTCTTCCCAAGCCCATAGAACCTGGGGGTCCTTGAACCTCATTCTTCCCTCTAGGTCCGAGTAACAGGGAGCTGTGAAAAAAGAATGACATCCTGGAGGAAGACCCTGACCCAGGAGTAGAAGGGACTCTTGAAGGCAGTGTCCGGCCTCTCCTTCCTCTCAGGCCCCACTCTGGAGGGACCCTTCCAGGGCCTCTGACACCAACACACAGATCCTCAAGAGGTGCACAGGGCCGCTGAGTGCATCTGACCCTGGACTTCCAGCTGCCCTGTCACCAGCTGCTGGTCCCACTGAGGCCCTGGCCCCAGATGCTGGCAGCTACAGAGGAAGGGCAGGCAGACCCTCTGCCCAAACTTGCAGGAGAGTGGCCAAGGCCTTTCCCTGACTCCACTTCAGGCCCAAACCCTGCCCAGCCCCTGGACACTCACACTCCTTCATCATGCCGATGTCCACACAGCGTTTGAGCTGGCAGGCCTGGCAGTGGCGTCGGTTGTCCTTGGTGATGCGGCAGTCCCCGTTGAAGGGGCAGGTGAATAGTGCCTTCCGCTTCATGCTTCGCCTGCCGAGAGAGCACACACCCTGCCCTGGGTCACTGAACTTCCGGCTCCTCACCCTGTCATCACGGAGACCTGTCTTCTGGGCCCCCTGGTCTCCATTTCTCCAACAGAAGACATGAGGCCCACCCCAGCTGCCAGTCACTCTCACCTCTAGGCTGGGCACCAAACGATTCCTACTTCTCCTTTCATTGCCTGCCCAGCTCCAATCATGGCTTGTACTTACCTTTTTTCTTTTAATTTTTGTTTCTTTTGGGGGGACAGGGTGTTGCTTTGTAGCCCAGGCTGGAATGCAGTGGCATGATCTCAGCTCACTGCAGGCTGGACCTCCTGGGTTCAAGTAATCCTCCTGCTTCAGCCTCCAGTATAGCTGGGATTACAGGTGCATACCACCATGCCTGGCTAATTTTTTGATTTTTTTGTAAAAATGGGGTCTCACTATGTTGCCCAGGCTAGTCTGGAACTCCTGGGCTGAAGCAATCCTCTATCCTAGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCACTGCACTCCGACTCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCACTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCCCGCCACCACTCCTGGCTAATTTTTTTTTGTATTTTTAGTAGAAATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCACAGCCACGCCCCGACTCTTATACTTATTTTACAGTACTCTGTTCCCCTTCCCATTTTAAAAAATTAAACAGGAAATAACAAAAGTGCATTTCCCTAGAAAAAACCCTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGTTGCGATCTCAGCTCACTGCAAGCTCCACCTCCTGGGTTCATGCCGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCGCACCCGGCTAATTCTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGTGCCTGGCCGAAGAAACCTTTTTAAATATTGAAATCTCCAGAGTAGCCAGCATAATAACATTTAATGAGCCGCTATGAGAAGTAAGGATGCTAGTCTCAGCATGAAGTCTTCTAGATTCTAGAGACCTGTGACTGGAATAGCTCCTGTTCCAGGGATAGATGTGTACATGGAAGGAAGAAAAGGCCCAAACCATAGCTCTAGACATCCCAGAACCTGCCCAGAAAAAGAAGGGGCCAGACAAGCAGGTGGAAATCCTGAGGCCTGGCCTTGGGTTTTTTGAAAGGAAGAGGAAGCAGGAGCTCTGTAGGAACAGAAAACTAGAGCTGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGTGGGCGGATCATCTGAGGTAAGGAGTTTGAGACCAGCCTGGCCAACATGCCAAAACTCCGTCTCTACTAAAAATACAAAAATTAGTTGGCCATGATGGTGCATGCCTGTAGTCCCAGCTACTTGGGGGCTGGGAGCTGAGGCAGGAGAGTCGTTTGAACCCAGGAGGTAGAGGTTGCAGTAGGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAACAAAACAAAACAAAACAAAAAAAACCCAGAAAACTACTGAAGTGTTCTTAGCTAGAAAGGTGGCACCCTTGAGGCTGGGTGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGTGG
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Task1_train_17313
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This variant affects the gene VDR (vitamin D receptor) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Vitamin D-dependent rickets type II with alopecia
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CCCCCTGATTTACCCCAGGCTGGTGCTGCTCTTCACCATGGATGCAGCGCTGTTTATGGGGACCAGGAGGCAGGTAGGAGGGGACATGAAGTCTGATTCTAGTCCCAGCTTGGCCACCAACTTGCTTTCTGACCCCAGACCTGAGGTCTTTACCTCTCTGAGTCTCAGATGTTCTTTCTATTTTAAGTCAGTAAGACATCCTCTTCCTCCTGAGGTAGGAGAGGGGCCTCTTGGGCATCAGTGAGCTTAGTCCTGAGGGGAACTCCTGTGGCAGTGCCTTACGAACCACTGCAGTGGAACCTCGTGCCAGTCTTGGTTAGCTGGAGCTTTAGAAACCGGACTCCCTGCTTTGCAGAGGCTGTCTTCTCTGCGGAGATGGGACTGTGCTGAGCACACCTTGTTGGTGCCCACCCTAACGCCTCACCCTGAGCAGGGCCCACTGAGAATGTGTGTGAAGCCTCTTAAGGCACCCGGGCCTCCAGCCTCCACTTCTTATTCTCTCCAGGATAAACACAGGAGCCAGGGCGTGGCAGGGACTAGGGTAGGAGCGACCAGCGTGCCCAGGCCTGCACCCTGTGATGGTGTGGAGAAACCACAGCCCTGGAAACACCTTTCAGGGCTGCCAGTGTTGGCTGGGGAGCCGTCAGATCAGGAGGGAGGAGTCATGACCCACAGAAGAGAAGCCTAGGTCAAGGCCCAAAGAGGAAGCCCAGGGTCAGGGCCTCAGCTCTGCCTCTGTGTCCCAACAACAGATAATTTTTTTCCCATTAACGGAGAAATTTGCTATCCTCTAAGCCCTGTTCTGTGACTTATCCTCTGTCCCTGACACATCTTCCTGTTACCTGACCTCTCCCCATCCCCAACCACTCCAAACGGTCCCATAGCCAGGAGGGTCCGCATCTGAGCAACATCCCCACCCCGACTCCGACTCCGATTCCTCAGACCCACAGCTAGGAGGGCCTGGGTTCTGTCCTAGGGCCGGGTGGGGGTCTGGATGCAGATGGCAGACAGGAGTGAGCAAGAGAAGGAGAAAAAGGAATGAGTGTACAGAGAGCACCCATGCCCAGCTGGCCTTGCTCCAGCCCAGAGAGGGCCAGGCTGGCCCCTCCCAGCATCTACTGAATTCAATGCCTACTCTAGTTACCAAATAACTGTCCTAGAGCTCTGATGCAAAGTTCAAGTGTTGTTTTCAGTGATGGGTCAAAATATCCATGTAAATATGCCATGTTGGTCTTCTCCAACCCCAGAGAGGGACAGGAAGTCCTATAGAATCACTCCTCTTTCTCCATCTGGATTCAGAGGGTCGTCCTAGAACCCAGTGCTTCCCCTGGCAGACTCTTTCCTCCTGGTCTCTCCCTGGCACAAGCCCTCAGATCTGCTCAAGGCGCCAGAGAGGCTGGGAGGCTGGGGTGGGACAGAACGTGGATGCCAACTATGCTCTGAATACTAATTCTCCCCATCACTCCTGCCCTTCCTAACCCACATCAGCCCTCTCTTCCCAAGCCCATAGAACCTGGGGGTCCTTGAACCTCATTCTTCCCTCTAGGTCCGAGTAACAGGGAGCTGTGAAAAAAGAATGACATCCTGGAGGAAGACCCTGACCCAGGAGTAGAAGGGACTCTTGAAGGCAGTGTCCGGCCTCTCCTTCCTCTCAGGCCCCACTCTGGAGGGACCCTTCCAGGGCCTCTGACACCAACACACAGATCCTCAAGAGGTGCACAGGGCCGCTGAGTGCATCTGACCCTGGACTTCCAGCTGCCCTGTCACCAGCTGCTGGTCCCACTGAGGCCCTGGCCCCAGATGCTGGCAGCTACAGAGGAAGGGCAGGCAGACCCTCTGCCCAAACTTGCAGGAGAGTGGCCAAGGCCTTTCCCTGACTCCACTTCAGGCCCAAACCCTGCCCAGCCCCTGGACACTCACACTCCTTCATCATGCCGATGTCCACACAGCGTTTGAGCCGGCAGGCCTGGCAGTGGCGTCGGTTGTCCTTGGTGATGCGGCAGTCCCCGTTGAAGGGGCAGGTGAATAGTGCCTTCCGCTTCATGCTTCGCCTGCCGAGAGAGCACACACCCTGCCCTGGGTCACTGAACTTCCGGCTCCTCACCCTGTCATCACGGAGACCTGTCTTCTGGGCCCCCTGGTCTCCATTTCTCCAACAGAAGACATGAGGCCCACCCCAGCTGCCAGTCACTCTCACCTCTAGGCTGGGCACCAAACGATTCCTACTTCTCCTTTCATTGCCTGCCCAGCTCCAATCATGGCTTGTACTTACCTTTTTTCTTTTAATTTTTGTTTCTTTTGGGGGGACAGGGTGTTGCTTTGTAGCCCAGGCTGGAATGCAGTGGCATGATCTCAGCTCACTGCAGGCTGGACCTCCTGGGTTCAAGTAATCCTCCTGCTTCAGCCTCCAGTATAGCTGGGATTACAGGTGCATACCACCATGCCTGGCTAATTTTTTGATTTTTTTGTAAAAATGGGGTCTCACTATGTTGCCCAGGCTAGTCTGGAACTCCTGGGCTGAAGCAATCCTCTATCCTAGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCACTGCACTCCGACTCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCACTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCCCGCCACCACTCCTGGCTAATTTTTTTTTGTATTTTTAGTAGAAATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCACAGCCACGCCCCGACTCTTATACTTATTTTACAGTACTCTGTTCCCCTTCCCATTTTAAAAAATTAAACAGGAAATAACAAAAGTGCATTTCCCTAGAAAAAACCCTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGTTGCGATCTCAGCTCACTGCAAGCTCCACCTCCTGGGTTCATGCCGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCGCACCCGGCTAATTCTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGTGCCTGGCCGAAGAAACCTTTTTAAATATTGAAATCTCCAGAGTAGCCAGCATAATAACATTTAATGAGCCGCTATGAGAAGTAAGGATGCTAGTCTCAGCATGAAGTCTTCTAGATTCTAGAGACCTGTGACTGGAATAGCTCCTGTTCCAGGGATAGATGTGTACATGGAAGGAAGAAAAGGCCCAAACCATAGCTCTAGACATCCCAGAACCTGCCCAGAAAAAGAAGGGGCCAGACAAGCAGGTGGAAATCCTGAGGCCTGGCCTTGGGTTTTTTGAAAGGAAGAGGAAGCAGGAGCTCTGTAGGAACAGAAAACTAGAGCTGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGTGGGCGGATCATCTGAGGTAAGGAGTTTGAGACCAGCCTGGCCAACATGCCAAAACTCCGTCTCTACTAAAAATACAAAAATTAGTTGGCCATGATGGTGCATGCCTGTAGTCCCAGCTACTTGGGGGCTGGGAGCTGAGGCAGGAGAGTCGTTTGAACCCAGGAGGTAGAGGTTGCAGTAGGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAACAAAACAAAACAAAACAAAAAAAACCCAGAAAACTACTGAAGTGTTCTTAGCTAGAAAGGTGGCACCCTTGAGGCTGGGTGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCACGGTGGC
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CCCCCTGATTTACCCCAGGCTGGTGCTGCTCTTCACCATGGATGCAGCGCTGTTTATGGGGACCAGGAGGCAGGTAGGAGGGGACATGAAGTCTGATTCTAGTCCCAGCTTGGCCACCAACTTGCTTTCTGACCCCAGACCTGAGGTCTTTACCTCTCTGAGTCTCAGATGTTCTTTCTATTTTAAGTCAGTAAGACATCCTCTTCCTCCTGAGGTAGGAGAGGGGCCTCTTGGGCATCAGTGAGCTTAGTCCTGAGGGGAACTCCTGTGGCAGTGCCTTACGAACCACTGCAGTGGAACCTCGTGCCAGTCTTGGTTAGCTGGAGCTTTAGAAACCGGACTCCCTGCTTTGCAGAGGCTGTCTTCTCTGCGGAGATGGGACTGTGCTGAGCACACCTTGTTGGTGCCCACCCTAACGCCTCACCCTGAGCAGGGCCCACTGAGAATGTGTGTGAAGCCTCTTAAGGCACCCGGGCCTCCAGCCTCCACTTCTTATTCTCTCCAGGATAAACACAGGAGCCAGGGCGTGGCAGGGACTAGGGTAGGAGCGACCAGCGTGCCCAGGCCTGCACCCTGTGATGGTGTGGAGAAACCACAGCCCTGGAAACACCTTTCAGGGCTGCCAGTGTTGGCTGGGGAGCCGTCAGATCAGGAGGGAGGAGTCATGACCCACAGAAGAGAAGCCTAGGTCAAGGCCCAAAGAGGAAGCCCAGGGTCAGGGCCTCAGCTCTGCCTCTGTGTCCCAACAACAGATAATTTTTTTCCCATTAACGGAGAAATTTGCTATCCTCTAAGCCCTGTTCTGTGACTTATCCTCTGTCCCTGACACATCTTCCTGTTACCTGACCTCTCCCCATCCCCAACCACTCCAAACGGTCCCATAGCCAGGAGGGTCCGCATCTGAGCAACATCCCCACCCCGACTCCGACTCCGATTCCTCAGACCCACAGCTAGGAGGGCCTGGGTTCTGTCCTAGGGCCGGGTGGGGGTCTGGATGCAGATGGCAGACAGGAGTGAGCAAGAGAAGGAGAAAAAGGAATGAGTGTACAGAGAGCACCCATGCCCAGCTGGCCTTGCTCCAGCCCAGAGAGGGCCAGGCTGGCCCCTCCCAGCATCTACTGAATTCAATGCCTACTCTAGTTACCAAATAACTGTCCTAGAGCTCTGATGCAAAGTTCAAGTGTTGTTTTCAGTGATGGGTCAAAATATCCATGTAAATATGCCATGTTGGTCTTCTCCAACCCCAGAGAGGGACAGGAAGTCCTATAGAATCACTCCTCTTTCTCCATCTGGATTCAGAGGGTCGTCCTAGAACCCAGTGCTTCCCCTGGCAGACTCTTTCCTCCTGGTCTCTCCCTGGCACAAGCCCTCAGATCTGCTCAAGGCGCCAGAGAGGCTGGGAGGCTGGGGTGGGACAGAACGTGGATGCCAACTATGCTCTGAATACTAATTCTCCCCATCACTCCTGCCCTTCCTAACCCACATCAGCCCTCTCTTCCCAAGCCCATAGAACCTGGGGGTCCTTGAACCTCATTCTTCCCTCTAGGTCCGAGTAACAGGGAGCTGTGAAAAAAGAATGACATCCTGGAGGAAGACCCTGACCCAGGAGTAGAAGGGACTCTTGAAGGCAGTGTCCGGCCTCTCCTTCCTCTCAGGCCCCACTCTGGAGGGACCCTTCCAGGGCCTCTGACACCAACACACAGATCCTCAAGAGGTGCACAGGGCCGCTGAGTGCATCTGACCCTGGACTTCCAGCTGCCCTGTCACCAGCTGCTGGTCCCACTGAGGCCCTGGCCCCAGATGCTGGCAGCTACAGAGGAAGGGCAGGCAGACCCTCTGCCCAAACTTGCAGGAGAGTGGCCAAGGCCTTTCCCTGACTCCACTTCAGGCCCAAACCCTGCCCAGCCCCTGGACACTCACACTCCTTCATCATGCCGATGTCCACACAGCGTTTGAGCCGGCAGGCCTGGCAGTGGCGTCGGTTGTCCTTGGTGATGCGGCAGTCCCCGTTGAAGGGGCAGGTGAATAGTGCCTTCCGCTTCATGCTTTGCCTGCCGAGAGAGCACACACCCTGCCCTGGGTCACTGAACTTCCGGCTCCTCACCCTGTCATCACGGAGACCTGTCTTCTGGGCCCCCTGGTCTCCATTTCTCCAACAGAAGACATGAGGCCCACCCCAGCTGCCAGTCACTCTCACCTCTAGGCTGGGCACCAAACGATTCCTACTTCTCCTTTCATTGCCTGCCCAGCTCCAATCATGGCTTGTACTTACCTTTTTTCTTTTAATTTTTGTTTCTTTTGGGGGGACAGGGTGTTGCTTTGTAGCCCAGGCTGGAATGCAGTGGCATGATCTCAGCTCACTGCAGGCTGGACCTCCTGGGTTCAAGTAATCCTCCTGCTTCAGCCTCCAGTATAGCTGGGATTACAGGTGCATACCACCATGCCTGGCTAATTTTTTGATTTTTTTGTAAAAATGGGGTCTCACTATGTTGCCCAGGCTAGTCTGGAACTCCTGGGCTGAAGCAATCCTCTATCCTAGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCACTGCACTCCGACTCTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCACTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCCCGCCACCACTCCTGGCTAATTTTTTTTTGTATTTTTAGTAGAAATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCACAGCCACGCCCCGACTCTTATACTTATTTTACAGTACTCTGTTCCCCTTCCCATTTTAAAAAATTAAACAGGAAATAACAAAAGTGCATTTCCCTAGAAAAAACCCTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGTTGCGATCTCAGCTCACTGCAAGCTCCACCTCCTGGGTTCATGCCGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCGCACCCGGCTAATTCTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGTGCCTGGCCGAAGAAACCTTTTTAAATATTGAAATCTCCAGAGTAGCCAGCATAATAACATTTAATGAGCCGCTATGAGAAGTAAGGATGCTAGTCTCAGCATGAAGTCTTCTAGATTCTAGAGACCTGTGACTGGAATAGCTCCTGTTCCAGGGATAGATGTGTACATGGAAGGAAGAAAAGGCCCAAACCATAGCTCTAGACATCCCAGAACCTGCCCAGAAAAAGAAGGGGCCAGACAAGCAGGTGGAAATCCTGAGGCCTGGCCTTGGGTTTTTTGAAAGGAAGAGGAAGCAGGAGCTCTGTAGGAACAGAAAACTAGAGCTGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGAGAGGCTGAGGTGGGCGGATCATCTGAGGTAAGGAGTTTGAGACCAGCCTGGCCAACATGCCAAAACTCCGTCTCTACTAAAAATACAAAAATTAGTTGGCCATGATGGTGCATGCCTGTAGTCCCAGCTACTTGGGGGCTGGGAGCTGAGGCAGGAGAGTCGTTTGAACCCAGGAGGTAGAGGTTGCAGTAGGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAACAAAACAAAACAAAACAAAAAAAACCCAGAAAACTACTGAAGTGTTCTTAGCTAGAAAGGTGGCACCCTTGAGGCTGGGTGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCACGGTGGC
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Task1_train_17314
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A genomic change on Chromosome 12 affects VDR (vitamin D receptor). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Vitamin D-dependent rickets type II with alopecia
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AGGCCTAGGAGGAGAGAGTGGATTTGGGGGTAGAGACTCCATAACCAAATGCTTTGGTTGCAGACTGACAAGATATGACCTTCGGTGAGAATCTCCATATTGACAACTCCTAGCCCAATGCCAGATTATAAATGCAGATTGAAGTCTGGTGACGGAATGAGTGAAAGAAACACAAGGCCAGACATGGTGGCTCATGCCTATAATCCTAGAACTTTGGGAGGCCAAGATGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGGCCCCATCACTACAAAAAAATCACACAAACACACACACACACGAGGAAAGTGGCTGGCTGGCTGGCTGCGAGGCTTTTGTTTATTTTATGAGAGCATGGTTCCATGAAGGGCAGCAGTGGTGACCCATCAGGCTCAAAAATCTCAGCTTTTTTCATCAGACTGAAAAAGTGTTTTTCAAAGCACTTTTTTACATGTCATCTCATTAATCCTCAGATTAACACTATGTAGCAGAGGGGGTGGATATCAATACATGCATGCCATTAGTTGAGTTAACTAAAACCTAGATATGTCAAGGACATCCATTTGAGCAAGGACATCCCATAAATTATTGCCATGGCCAGCACCCCAGACCATGCCTTTCTGATGGGTTTCATGGTAGTAAGCAGGCGCTGAGGTGTGCGTTAGATTCCCCTCTCATTAGCACTCAAGGCAGCCCCCCAAGTTAGAGGACCTGGCAGGAAAGGGTCCATGTGTCACCTGGGACACACAACTGGGGCTCTAGAAGGCCCACCCTGCAGGATGTGTGGACCTCAGGCCCAAGGATTGGCAAATGCAGCAACACGACTTAGAGCCAGCGATGCTGCTTGTCTGGTTCCCCGAGCTGGAGAGTAGGCTGCCGGGAAGCCAAGCGGGCAGCCAGTGCCAGGCCAAACAGGCAATTAGCACCCACAGAAACCCCACTGCCCAGCAATTGCTCAAGGCCATGAAACTCTGGGCCTGCTGATTCCTGAGGCAGAGGGCAGGTGAATCAGGAGCTTGTGTTGACAGAGAGACCCCAAGTCCTTGAGTAAGAGTCCCACACAAGCGCCTGGACTTGAATTCACTGTGCCCCCAAGGCGAGGAGAGCACTCCGGTTTAGACAACAACCAAGCCGACCTCAGCATCCTCCTCTGGACTTGATTTGTGCTTTCCTCATTTGATGGTTAGAGCCCTGCCATAGCCACCTCCAGTCTAGACCGCTAGACAGAAGATCTGTTTTGGCTGCCTTCTTTCAGGCTATTCTCTCTCTCTCTCTCCAATACATGCCAAATGCTAATTTCTCATGATTCCCAGTTCCTGCCCCAATTCATCCCTTTCCCACGCTCCCACCCTGGCTTTGAATGGGAACCTCCAGTGCTTTTCCCACACCTTTCACATCTGTAATCCTGGGCTCATGTAAGGGGAGTGTGTTGGTAAAGAAACTGGCCCTGATCAAACAGGAATGCAGGTACATTCCTGACACTGCCTGGATGTTCCAAGGTTGGCTTTCAGACCAGGACAAACAGTCCTTGGGTGAAGATATGGGTACAGATCGTGATGACCCGACAAGAGGTGCCATTTCCCTTGTTCCAAGGAACAGTTTGGATTGGATGGGAAGGCAAGCTCTGAAACCAAGTTCTTGGGCTTTCCCCAAAGACATGCCTGTCTCTTGGGTGAGGAAGCTGTGATCATCAACAGGGAGGAGGTTCACTCTGGAAGGATGGACACGTGGGTTGGTGTAGGAGGCTGTGGGTTACAGGCGTAATGGAAAGACAGAGACCCACACAGCAACCTCAGGAAAGCGATTTCCAAGAGAGTCAGAGGAACATCTGGAGCTGAGAGGAGGGAAAAGAAGATACCACTCACCAAGACCCTCCTGCTCCTGTGGCTGTGAGCGCCGCATGTTCCATGGACATTGTAAGGAAGGAGATGTGAAAAATGCAAGGGCTCCCTTCATGGAAACACCTTGCTTCTTCTCCCTCCCTTTCCACTGGGGAGAGCCTGGGAGGAGGGCTCACCTGAAGAAGCCTTTGCAGCCTTCACAGGTCATAGCATTGAAGTGAAAGCCAGTGGCTCGGTCTCCACACACCCCACAGATCCGGGGCACGTTCCGGTCAAAGTCTCCAGGGTCAGGCAGGGAAGTGCTGGCCGCCATTGCCTCCATCCCTGTAAGAACAGCAAGCAGGCCACGGTCAGAGCCAGAGTCAGTGCCAGGGCCAGCTGGCATCCTTGGTGCCACCCACCCCCAGCCTCATCCCACCGCCCCCACCCCCCACCACCAGGGAGCTCAGCAAGGGTGGGCATCTCCCCAGGGCCCAGGCCTGAGCACAGTGCCTTCGGAGCCCTCATACATGATTCGCCCTACATAGCTGGCTCAGAGCATGGCTTGGAATCAGCTGCCTGGTTTCAGATGTTGCATCTGTCAGGTTAATTTGGGTTTAGTGGTTCACCTCTGCATGCCCCCGCTGTCTGCATTGGAAGAGGTGTTTTACTTCCAGGGTGTAAGGATCATATGCATGAACCCATTCATGCTACTGGCACTAGCTCTGCCTCAGGCACAGACCTGAACCAGGTCAGGGGCTTCTATCCTGCCCAACGCCCCCTCCAAGGGAAAATGAGAGTCCTCCCTCAGCCTCAGCACCTACATGTGGAGAGAAACCCTCAGGTCTCCTCCTCTTGAGGGTGGGGGGAATTGAGGATTTAGGTGCCCTGGTCATTCCAGCCCCAGCTCCTCACAACCATAAAGCTCAGGGCTAATAGGCTTATGCCCCTGGTGTTCCTGTACCAAGACAATCAACATTTCAAGATATTTCCCCCCCCTTTTTTTGGCAATAACACTTAAAACATTATTTTGAATGTCCTTCTGAGTCATGTGAGTCCTATACAATTAATTGTGTTTTCAGAGATGGTTTTTCTAAACAGGCATTATCATCTAGAGATGGATTTCATACTTGAGGAAAAGGAGAAGAGACAGACGGAACGAAAGCCCACAGCTTTGGGAAGGCCTTCTCAGGAAGCAGCTGGCTTGACTCTTTCATTAGCCAAAACTGGGCCCCCAGCTTTGTCTGCTGCGTCTGATCCCGTCTACTGTCAGGCTCAGAGATGATTCTGGGATACCTCAGACTGCCCTGAAATGCTTTCAGACCCTACTGCCTCCCAGTTCTCCCAATTTTATCTGAATCCTCAAAAGGGTCATTACAGGTTTCAGTGACCCCTTTGACCCTAGGCAAAGGGTCCTTCTTGTCAGAAGAAAAATAAGAGAGAAAGCCAGGAAACAAGAGACAAGAACCCACTCCACCCCAGGGTACCATTTCCTCCTGCCCTTGGGTGACAGAGGCAGATTCTGGGGGCCCTTGGGAGGCTCTGAGCTACTTTTCAATGACTAGGCCCATGATCTCTGATCTAGGGTGTGGAATATCAAAGCTCATTAAGTCTTATTTCACCTTCATACCACTTCATGGTGTAGATGCTATTATCATCATCCCCTTTACAAATGAGGCCCAGAGAGGCCCAAACCTTAAGATATGTCTAGAAACCACTACTGCCAAATGAATAAAACAAATACTTTCTAAAAATTCCCCAAAGAGCTTCACACCAAGGGAAAGAAGTGGTGCAGATAAGCAAGAATATGTTATCATCAGTCCCAAAGGGACAGAGGGAATCCCGGTCACAGACCTCGGAGATTCCCTAACCTCATTTAGCTTTTCTTTTCCTGGAAACCTTAATGTATTAGGTTGGTGCAAAAGTAATTGTGGTTTTGGCCATCAAAAATAATGGCAAAGATCGCAATTACTTTTGAACTATCCTAATAGTAATAGTGACACTATTGCTAATTTCTTTCACAGCTAGATTTATACTTGCTAAACTCTAATGTATATATAATATATACATTAAATATATAAATACATATTAATATATATTATATATTAATATATATTAAATATATAAATACATATTTAATGTATATATTAAATTTTAGCAGCTACATATACATTAAAGTTTAGCAAGTATAAATATATACCTATATATAAAGAGAGAAGCACTTTCAGAAAGAGAACAAAGATCATTGCAGCGA
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AGGCCTAGGAGGAGAGAGTGGATTTGGGGGTAGAGACTCCATAACCAAATGCTTTGGTTGCAGACTGACAAGATATGACCTTCGGTGAGAATCTCCATATTGACAACTCCTAGCCCAATGCCAGATTATAAATGCAGATTGAAGTCTGGTGACGGAATGAGTGAAAGAAACACAAGGCCAGACATGGTGGCTCATGCCTATAATCCTAGAACTTTGGGAGGCCAAGATGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGGCCCCATCACTACAAAAAAATCACACAAACACACACACACACGAGGAAAGTGGCTGGCTGGCTGGCTGCGAGGCTTTTGTTTATTTTATGAGAGCATGGTTCCATGAAGGGCAGCAGTGGTGACCCATCAGGCTCAAAAATCTCAGCTTTTTTCATCAGACTGAAAAAGTGTTTTTCAAAGCACTTTTTTACATGTCATCTCATTAATCCTCAGATTAACACTATGTAGCAGAGGGGGTGGATATCAATACATGCATGCCATTAGTTGAGTTAACTAAAACCTAGATATGTCAAGGACATCCATTTGAGCAAGGACATCCCATAAATTATTGCCATGGCCAGCACCCCAGACCATGCCTTTCTGATGGGTTTCATGGTAGTAAGCAGGCGCTGAGGTGTGCGTTAGATTCCCCTCTCATTAGCACTCAAGGCAGCCCCCCAAGTTAGAGGACCTGGCAGGAAAGGGTCCATGTGTCACCTGGGACACACAACTGGGGCTCTAGAAGGCCCACCCTGCAGGATGTGTGGACCTCAGGCCCAAGGATTGGCAAATGCAGCAACACGACTTAGAGCCAGCGATGCTGCTTGTCTGGTTCCCCGAGCTGGAGAGTAGGCTGCCGGGAAGCCAAGCGGGCAGCCAGTGCCAGGCCAAACAGGCAATTAGCACCCACAGAAACCCCACTGCCCAGCAATTGCTCAAGGCCATGAAACTCTGGGCCTGCTGATTCCTGAGGCAGAGGGCAGGTGAATCAGGAGCTTGTGTTGACAGAGAGACCCCAAGTCCTTGAGTAAGAGTCCCACACAAGCGCCTGGACTTGAATTCACTGTGCCCCCAAGGCGAGGAGAGCACTCCGGTTTAGACAACAACCAAGCCGACCTCAGCATCCTCCTCTGGACTTGATTTGTGCTTTCCTCATTTGATGGTTAGAGCCCTGCCATAGCCACCTCCAGTCTAGACCGCTAGACAGAAGATCTGTTTTGGCTGCCTTCTTTCAGGCTATTCTCTCTCTCTCTCTCCAATACATGCCAAATGCTAATTTCTCATGATTCCCAGTTCCTGCCCCAATTCATCCCTTTCCCACGCTCCCACCCTGGCTTTGAATGGGAACCTCCAGTGCTTTTCCCACACCTTTCACATCTGTAATCCTGGGCTCATGTAAGGGGAGTGTGTTGGTAAAGAAACTGGCCCTGATCAAACAGGAATGCAGGTACATTCCTGACACTGCCTGGATGTTCCAAGGTTGGCTTTCAGACCAGGACAAACAGTCCTTGGGTGAAGATATGGGTACAGATCGTGATGACCCGACAAGAGGTGCCATTTCCCTTGTTCCAAGGAACAGTTTGGATTGGATGGGAAGGCAAGCTCTGAAACCAAGTTCTTGGGCTTTCCCCAAAGACATGCCTGTCTCTTGGGTGAGGAAGCTGTGATCATCAACAGGGAGGAGGTTCACTCTGGAAGGATGGACACGTGGGTTGGTGTAGGAGGCTGTGGGTTACAGGCGTAATGGAAAGACAGAGACCCACACAGCAACCTCAGGAAAGCGATTTCCAAGAGAGTCAGAGGAACATCTGGAGCTGAGAGGAGGGAAAAGAAGATACCACTCACCAAGACCCTCCTGCTCCTGTGGCTGTGAGCGCCGCATGTTCCATGGACATTGTAAGGAAGGAGATGTGAAAAATGCAAGGGCTCCCTTCATGGAAACACCTTGCTTCTTCTCCCTCCCTTTCCACTGGGGAGAGCCTGGGAGGAGGGCTCACCTGAAGAAGTCTTTGCAGCCTTCACAGGTCATAGCATTGAAGTGAAAGCCAGTGGCTCGGTCTCCACACACCCCACAGATCCGGGGCACGTTCCGGTCAAAGTCTCCAGGGTCAGGCAGGGAAGTGCTGGCCGCCATTGCCTCCATCCCTGTAAGAACAGCAAGCAGGCCACGGTCAGAGCCAGAGTCAGTGCCAGGGCCAGCTGGCATCCTTGGTGCCACCCACCCCCAGCCTCATCCCACCGCCCCCACCCCCCACCACCAGGGAGCTCAGCAAGGGTGGGCATCTCCCCAGGGCCCAGGCCTGAGCACAGTGCCTTCGGAGCCCTCATACATGATTCGCCCTACATAGCTGGCTCAGAGCATGGCTTGGAATCAGCTGCCTGGTTTCAGATGTTGCATCTGTCAGGTTAATTTGGGTTTAGTGGTTCACCTCTGCATGCCCCCGCTGTCTGCATTGGAAGAGGTGTTTTACTTCCAGGGTGTAAGGATCATATGCATGAACCCATTCATGCTACTGGCACTAGCTCTGCCTCAGGCACAGACCTGAACCAGGTCAGGGGCTTCTATCCTGCCCAACGCCCCCTCCAAGGGAAAATGAGAGTCCTCCCTCAGCCTCAGCACCTACATGTGGAGAGAAACCCTCAGGTCTCCTCCTCTTGAGGGTGGGGGGAATTGAGGATTTAGGTGCCCTGGTCATTCCAGCCCCAGCTCCTCACAACCATAAAGCTCAGGGCTAATAGGCTTATGCCCCTGGTGTTCCTGTACCAAGACAATCAACATTTCAAGATATTTCCCCCCCCTTTTTTTGGCAATAACACTTAAAACATTATTTTGAATGTCCTTCTGAGTCATGTGAGTCCTATACAATTAATTGTGTTTTCAGAGATGGTTTTTCTAAACAGGCATTATCATCTAGAGATGGATTTCATACTTGAGGAAAAGGAGAAGAGACAGACGGAACGAAAGCCCACAGCTTTGGGAAGGCCTTCTCAGGAAGCAGCTGGCTTGACTCTTTCATTAGCCAAAACTGGGCCCCCAGCTTTGTCTGCTGCGTCTGATCCCGTCTACTGTCAGGCTCAGAGATGATTCTGGGATACCTCAGACTGCCCTGAAATGCTTTCAGACCCTACTGCCTCCCAGTTCTCCCAATTTTATCTGAATCCTCAAAAGGGTCATTACAGGTTTCAGTGACCCCTTTGACCCTAGGCAAAGGGTCCTTCTTGTCAGAAGAAAAATAAGAGAGAAAGCCAGGAAACAAGAGACAAGAACCCACTCCACCCCAGGGTACCATTTCCTCCTGCCCTTGGGTGACAGAGGCAGATTCTGGGGGCCCTTGGGAGGCTCTGAGCTACTTTTCAATGACTAGGCCCATGATCTCTGATCTAGGGTGTGGAATATCAAAGCTCATTAAGTCTTATTTCACCTTCATACCACTTCATGGTGTAGATGCTATTATCATCATCCCCTTTACAAATGAGGCCCAGAGAGGCCCAAACCTTAAGATATGTCTAGAAACCACTACTGCCAAATGAATAAAACAAATACTTTCTAAAAATTCCCCAAAGAGCTTCACACCAAGGGAAAGAAGTGGTGCAGATAAGCAAGAATATGTTATCATCAGTCCCAAAGGGACAGAGGGAATCCCGGTCACAGACCTCGGAGATTCCCTAACCTCATTTAGCTTTTCTTTTCCTGGAAACCTTAATGTATTAGGTTGGTGCAAAAGTAATTGTGGTTTTGGCCATCAAAAATAATGGCAAAGATCGCAATTACTTTTGAACTATCCTAATAGTAATAGTGACACTATTGCTAATTTCTTTCACAGCTAGATTTATACTTGCTAAACTCTAATGTATATATAATATATACATTAAATATATAAATACATATTAATATATATTATATATTAATATATATTAAATATATAAATACATATTTAATGTATATATTAAATTTTAGCAGCTACATATACATTAAAGTTTAGCAAGTATAAATATATACCTATATATAAAGAGAGAAGCACTTTCAGAAAGAGAACAAAGATCATTGCAGCGA
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Task1_train_17315
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This variant lies on Chromosome 12 and affects the gene VDR (vitamin D receptor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Vitamin D-dependent rickets type II with alopecia
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CATAACCAAATGCTTTGGTTGCAGACTGACAAGATATGACCTTCGGTGAGAATCTCCATATTGACAACTCCTAGCCCAATGCCAGATTATAAATGCAGATTGAAGTCTGGTGACGGAATGAGTGAAAGAAACACAAGGCCAGACATGGTGGCTCATGCCTATAATCCTAGAACTTTGGGAGGCCAAGATGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGGCCCCATCACTACAAAAAAATCACACAAACACACACACACACGAGGAAAGTGGCTGGCTGGCTGGCTGCGAGGCTTTTGTTTATTTTATGAGAGCATGGTTCCATGAAGGGCAGCAGTGGTGACCCATCAGGCTCAAAAATCTCAGCTTTTTTCATCAGACTGAAAAAGTGTTTTTCAAAGCACTTTTTTACATGTCATCTCATTAATCCTCAGATTAACACTATGTAGCAGAGGGGGTGGATATCAATACATGCATGCCATTAGTTGAGTTAACTAAAACCTAGATATGTCAAGGACATCCATTTGAGCAAGGACATCCCATAAATTATTGCCATGGCCAGCACCCCAGACCATGCCTTTCTGATGGGTTTCATGGTAGTAAGCAGGCGCTGAGGTGTGCGTTAGATTCCCCTCTCATTAGCACTCAAGGCAGCCCCCCAAGTTAGAGGACCTGGCAGGAAAGGGTCCATGTGTCACCTGGGACACACAACTGGGGCTCTAGAAGGCCCACCCTGCAGGATGTGTGGACCTCAGGCCCAAGGATTGGCAAATGCAGCAACACGACTTAGAGCCAGCGATGCTGCTTGTCTGGTTCCCCGAGCTGGAGAGTAGGCTGCCGGGAAGCCAAGCGGGCAGCCAGTGCCAGGCCAAACAGGCAATTAGCACCCACAGAAACCCCACTGCCCAGCAATTGCTCAAGGCCATGAAACTCTGGGCCTGCTGATTCCTGAGGCAGAGGGCAGGTGAATCAGGAGCTTGTGTTGACAGAGAGACCCCAAGTCCTTGAGTAAGAGTCCCACACAAGCGCCTGGACTTGAATTCACTGTGCCCCCAAGGCGAGGAGAGCACTCCGGTTTAGACAACAACCAAGCCGACCTCAGCATCCTCCTCTGGACTTGATTTGTGCTTTCCTCATTTGATGGTTAGAGCCCTGCCATAGCCACCTCCAGTCTAGACCGCTAGACAGAAGATCTGTTTTGGCTGCCTTCTTTCAGGCTATTCTCTCTCTCTCTCTCCAATACATGCCAAATGCTAATTTCTCATGATTCCCAGTTCCTGCCCCAATTCATCCCTTTCCCACGCTCCCACCCTGGCTTTGAATGGGAACCTCCAGTGCTTTTCCCACACCTTTCACATCTGTAATCCTGGGCTCATGTAAGGGGAGTGTGTTGGTAAAGAAACTGGCCCTGATCAAACAGGAATGCAGGTACATTCCTGACACTGCCTGGATGTTCCAAGGTTGGCTTTCAGACCAGGACAAACAGTCCTTGGGTGAAGATATGGGTACAGATCGTGATGACCCGACAAGAGGTGCCATTTCCCTTGTTCCAAGGAACAGTTTGGATTGGATGGGAAGGCAAGCTCTGAAACCAAGTTCTTGGGCTTTCCCCAAAGACATGCCTGTCTCTTGGGTGAGGAAGCTGTGATCATCAACAGGGAGGAGGTTCACTCTGGAAGGATGGACACGTGGGTTGGTGTAGGAGGCTGTGGGTTACAGGCGTAATGGAAAGACAGAGACCCACACAGCAACCTCAGGAAAGCGATTTCCAAGAGAGTCAGAGGAACATCTGGAGCTGAGAGGAGGGAAAAGAAGATACCACTCACCAAGACCCTCCTGCTCCTGTGGCTGTGAGCGCCGCATGTTCCATGGACATTGTAAGGAAGGAGATGTGAAAAATGCAAGGGCTCCCTTCATGGAAACACCTTGCTTCTTCTCCCTCCCTTTCCACTGGGGAGAGCCTGGGAGGAGGGCTCACCTGAAGAAGCCTTTGCAGCCTTCACAGGTCATAGCATTGAAGTGAAAGCCAGTGGCTCGGTCTCCACACACCCCACAGATCCGGGGCACGTTCCGGTCAAAGTCTCCAGGGTCAGGCAGGGAAGTGCTGGCCGCCATTGCCTCCATCCCTGTAAGAACAGCAAGCAGGCCACGGTCAGAGCCAGAGTCAGTGCCAGGGCCAGCTGGCATCCTTGGTGCCACCCACCCCCAGCCTCATCCCACCGCCCCCACCCCCCACCACCAGGGAGCTCAGCAAGGGTGGGCATCTCCCCAGGGCCCAGGCCTGAGCACAGTGCCTTCGGAGCCCTCATACATGATTCGCCCTACATAGCTGGCTCAGAGCATGGCTTGGAATCAGCTGCCTGGTTTCAGATGTTGCATCTGTCAGGTTAATTTGGGTTTAGTGGTTCACCTCTGCATGCCCCCGCTGTCTGCATTGGAAGAGGTGTTTTACTTCCAGGGTGTAAGGATCATATGCATGAACCCATTCATGCTACTGGCACTAGCTCTGCCTCAGGCACAGACCTGAACCAGGTCAGGGGCTTCTATCCTGCCCAACGCCCCCTCCAAGGGAAAATGAGAGTCCTCCCTCAGCCTCAGCACCTACATGTGGAGAGAAACCCTCAGGTCTCCTCCTCTTGAGGGTGGGGGGAATTGAGGATTTAGGTGCCCTGGTCATTCCAGCCCCAGCTCCTCACAACCATAAAGCTCAGGGCTAATAGGCTTATGCCCCTGGTGTTCCTGTACCAAGACAATCAACATTTCAAGATATTTCCCCCCCCTTTTTTTGGCAATAACACTTAAAACATTATTTTGAATGTCCTTCTGAGTCATGTGAGTCCTATACAATTAATTGTGTTTTCAGAGATGGTTTTTCTAAACAGGCATTATCATCTAGAGATGGATTTCATACTTGAGGAAAAGGAGAAGAGACAGACGGAACGAAAGCCCACAGCTTTGGGAAGGCCTTCTCAGGAAGCAGCTGGCTTGACTCTTTCATTAGCCAAAACTGGGCCCCCAGCTTTGTCTGCTGCGTCTGATCCCGTCTACTGTCAGGCTCAGAGATGATTCTGGGATACCTCAGACTGCCCTGAAATGCTTTCAGACCCTACTGCCTCCCAGTTCTCCCAATTTTATCTGAATCCTCAAAAGGGTCATTACAGGTTTCAGTGACCCCTTTGACCCTAGGCAAAGGGTCCTTCTTGTCAGAAGAAAAATAAGAGAGAAAGCCAGGAAACAAGAGACAAGAACCCACTCCACCCCAGGGTACCATTTCCTCCTGCCCTTGGGTGACAGAGGCAGATTCTGGGGGCCCTTGGGAGGCTCTGAGCTACTTTTCAATGACTAGGCCCATGATCTCTGATCTAGGGTGTGGAATATCAAAGCTCATTAAGTCTTATTTCACCTTCATACCACTTCATGGTGTAGATGCTATTATCATCATCCCCTTTACAAATGAGGCCCAGAGAGGCCCAAACCTTAAGATATGTCTAGAAACCACTACTGCCAAATGAATAAAACAAATACTTTCTAAAAATTCCCCAAAGAGCTTCACACCAAGGGAAAGAAGTGGTGCAGATAAGCAAGAATATGTTATCATCAGTCCCAAAGGGACAGAGGGAATCCCGGTCACAGACCTCGGAGATTCCCTAACCTCATTTAGCTTTTCTTTTCCTGGAAACCTTAATGTATTAGGTTGGTGCAAAAGTAATTGTGGTTTTGGCCATCAAAAATAATGGCAAAGATCGCAATTACTTTTGAACTATCCTAATAGTAATAGTGACACTATTGCTAATTTCTTTCACAGCTAGATTTATACTTGCTAAACTCTAATGTATATATAATATATACATTAAATATATAAATACATATTAATATATATTATATATTAATATATATTAAATATATAAATACATATTTAATGTATATATTAAATTTTAGCAGCTACATATACATTAAAGTTTAGCAAGTATAAATATATACCTATATATAAAGAGAGAAGCACTTTCAGAAAGAGAACAAAGATCATTGCAGCGATAGCAAAGACACAGAATCAACCCAGGTGCCCATCAACTC
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CATAACCAAATGCTTTGGTTGCAGACTGACAAGATATGACCTTCGGTGAGAATCTCCATATTGACAACTCCTAGCCCAATGCCAGATTATAAATGCAGATTGAAGTCTGGTGACGGAATGAGTGAAAGAAACACAAGGCCAGACATGGTGGCTCATGCCTATAATCCTAGAACTTTGGGAGGCCAAGATGGAAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAAGGAGGCCCCATCACTACAAAAAAATCACACAAACACACACACACACGAGGAAAGTGGCTGGCTGGCTGGCTGCGAGGCTTTTGTTTATTTTATGAGAGCATGGTTCCATGAAGGGCAGCAGTGGTGACCCATCAGGCTCAAAAATCTCAGCTTTTTTCATCAGACTGAAAAAGTGTTTTTCAAAGCACTTTTTTACATGTCATCTCATTAATCCTCAGATTAACACTATGTAGCAGAGGGGGTGGATATCAATACATGCATGCCATTAGTTGAGTTAACTAAAACCTAGATATGTCAAGGACATCCATTTGAGCAAGGACATCCCATAAATTATTGCCATGGCCAGCACCCCAGACCATGCCTTTCTGATGGGTTTCATGGTAGTAAGCAGGCGCTGAGGTGTGCGTTAGATTCCCCTCTCATTAGCACTCAAGGCAGCCCCCCAAGTTAGAGGACCTGGCAGGAAAGGGTCCATGTGTCACCTGGGACACACAACTGGGGCTCTAGAAGGCCCACCCTGCAGGATGTGTGGACCTCAGGCCCAAGGATTGGCAAATGCAGCAACACGACTTAGAGCCAGCGATGCTGCTTGTCTGGTTCCCCGAGCTGGAGAGTAGGCTGCCGGGAAGCCAAGCGGGCAGCCAGTGCCAGGCCAAACAGGCAATTAGCACCCACAGAAACCCCACTGCCCAGCAATTGCTCAAGGCCATGAAACTCTGGGCCTGCTGATTCCTGAGGCAGAGGGCAGGTGAATCAGGAGCTTGTGTTGACAGAGAGACCCCAAGTCCTTGAGTAAGAGTCCCACACAAGCGCCTGGACTTGAATTCACTGTGCCCCCAAGGCGAGGAGAGCACTCCGGTTTAGACAACAACCAAGCCGACCTCAGCATCCTCCTCTGGACTTGATTTGTGCTTTCCTCATTTGATGGTTAGAGCCCTGCCATAGCCACCTCCAGTCTAGACCGCTAGACAGAAGATCTGTTTTGGCTGCCTTCTTTCAGGCTATTCTCTCTCTCTCTCTCCAATACATGCCAAATGCTAATTTCTCATGATTCCCAGTTCCTGCCCCAATTCATCCCTTTCCCACGCTCCCACCCTGGCTTTGAATGGGAACCTCCAGTGCTTTTCCCACACCTTTCACATCTGTAATCCTGGGCTCATGTAAGGGGAGTGTGTTGGTAAAGAAACTGGCCCTGATCAAACAGGAATGCAGGTACATTCCTGACACTGCCTGGATGTTCCAAGGTTGGCTTTCAGACCAGGACAAACAGTCCTTGGGTGAAGATATGGGTACAGATCGTGATGACCCGACAAGAGGTGCCATTTCCCTTGTTCCAAGGAACAGTTTGGATTGGATGGGAAGGCAAGCTCTGAAACCAAGTTCTTGGGCTTTCCCCAAAGACATGCCTGTCTCTTGGGTGAGGAAGCTGTGATCATCAACAGGGAGGAGGTTCACTCTGGAAGGATGGACACGTGGGTTGGTGTAGGAGGCTGTGGGTTACAGGCGTAATGGAAAGACAGAGACCCACACAGCAACCTCAGGAAAGCGATTTCCAAGAGAGTCAGAGGAACATCTGGAGCTGAGAGGAGGGAAAAGAAGATACCACTCACCAAGACCCTCCTGCTCCTGTGGCTGTGAGCGCCGCATGTTCCATGGACATTGTAAGGAAGGAGATGTGAAAAATGCAAGGGCTCCCTTCATGGAAACACCTTGCTTCTTCTCCCTCCCTTTCCACTGGGGAGAGCCTGGGAGGAGGGCTCACCTGAAGAAGCCTTTGCAGCCTTCACAGGTCATAGCATTGAAGTGAAAGTCAGTGGCTCGGTCTCCACACACCCCACAGATCCGGGGCACGTTCCGGTCAAAGTCTCCAGGGTCAGGCAGGGAAGTGCTGGCCGCCATTGCCTCCATCCCTGTAAGAACAGCAAGCAGGCCACGGTCAGAGCCAGAGTCAGTGCCAGGGCCAGCTGGCATCCTTGGTGCCACCCACCCCCAGCCTCATCCCACCGCCCCCACCCCCCACCACCAGGGAGCTCAGCAAGGGTGGGCATCTCCCCAGGGCCCAGGCCTGAGCACAGTGCCTTCGGAGCCCTCATACATGATTCGCCCTACATAGCTGGCTCAGAGCATGGCTTGGAATCAGCTGCCTGGTTTCAGATGTTGCATCTGTCAGGTTAATTTGGGTTTAGTGGTTCACCTCTGCATGCCCCCGCTGTCTGCATTGGAAGAGGTGTTTTACTTCCAGGGTGTAAGGATCATATGCATGAACCCATTCATGCTACTGGCACTAGCTCTGCCTCAGGCACAGACCTGAACCAGGTCAGGGGCTTCTATCCTGCCCAACGCCCCCTCCAAGGGAAAATGAGAGTCCTCCCTCAGCCTCAGCACCTACATGTGGAGAGAAACCCTCAGGTCTCCTCCTCTTGAGGGTGGGGGGAATTGAGGATTTAGGTGCCCTGGTCATTCCAGCCCCAGCTCCTCACAACCATAAAGCTCAGGGCTAATAGGCTTATGCCCCTGGTGTTCCTGTACCAAGACAATCAACATTTCAAGATATTTCCCCCCCCTTTTTTTGGCAATAACACTTAAAACATTATTTTGAATGTCCTTCTGAGTCATGTGAGTCCTATACAATTAATTGTGTTTTCAGAGATGGTTTTTCTAAACAGGCATTATCATCTAGAGATGGATTTCATACTTGAGGAAAAGGAGAAGAGACAGACGGAACGAAAGCCCACAGCTTTGGGAAGGCCTTCTCAGGAAGCAGCTGGCTTGACTCTTTCATTAGCCAAAACTGGGCCCCCAGCTTTGTCTGCTGCGTCTGATCCCGTCTACTGTCAGGCTCAGAGATGATTCTGGGATACCTCAGACTGCCCTGAAATGCTTTCAGACCCTACTGCCTCCCAGTTCTCCCAATTTTATCTGAATCCTCAAAAGGGTCATTACAGGTTTCAGTGACCCCTTTGACCCTAGGCAAAGGGTCCTTCTTGTCAGAAGAAAAATAAGAGAGAAAGCCAGGAAACAAGAGACAAGAACCCACTCCACCCCAGGGTACCATTTCCTCCTGCCCTTGGGTGACAGAGGCAGATTCTGGGGGCCCTTGGGAGGCTCTGAGCTACTTTTCAATGACTAGGCCCATGATCTCTGATCTAGGGTGTGGAATATCAAAGCTCATTAAGTCTTATTTCACCTTCATACCACTTCATGGTGTAGATGCTATTATCATCATCCCCTTTACAAATGAGGCCCAGAGAGGCCCAAACCTTAAGATATGTCTAGAAACCACTACTGCCAAATGAATAAAACAAATACTTTCTAAAAATTCCCCAAAGAGCTTCACACCAAGGGAAAGAAGTGGTGCAGATAAGCAAGAATATGTTATCATCAGTCCCAAAGGGACAGAGGGAATCCCGGTCACAGACCTCGGAGATTCCCTAACCTCATTTAGCTTTTCTTTTCCTGGAAACCTTAATGTATTAGGTTGGTGCAAAAGTAATTGTGGTTTTGGCCATCAAAAATAATGGCAAAGATCGCAATTACTTTTGAACTATCCTAATAGTAATAGTGACACTATTGCTAATTTCTTTCACAGCTAGATTTATACTTGCTAAACTCTAATGTATATATAATATATACATTAAATATATAAATACATATTAATATATATTATATATTAATATATATTAAATATATAAATACATATTTAATGTATATATTAAATTTTAGCAGCTACATATACATTAAAGTTTAGCAAGTATAAATATATACCTATATATAAAGAGAGAAGCACTTTCAGAAAGAGAACAAAGATCATTGCAGCGATAGCAAAGACACAGAATCAACCCAGGTGCCCATCAACTC
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Task1_train_17316
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Consider a variant on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain). Determine its clinical classification and disease relevance.
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Pathogenic; not provided
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TGTTTTCAGTGATCATGTTTTCATTTTACTCCTTTGTCATGAACTAGCTCTGGTGGGGTATATAGTATTATTGTAGGTGTATATGTATGTATGTGTATATACATACATACATATATAAACCTAGGTATATATTATATATATTATTAAATAATATATAGGTATATATAGGTATATATAGGTGTATATATATAGGTATATATTATATATAGGTATATATTATTTAATAATATATAGGTATACATTAATAATATATAGGTATATATTATTTGTATAATAATATATGTATATATTTGTATAATATATGTATATATTATTATATTGTATAATAATATATGTATATATTATTATATTGTATAATAATATATGTATATATTATTATATTGTATAATAATATATGTATATATTATTATATTGTATAATAATATATGTATATATTATTATATTGTATAATAATATATAGGTATATATTATCTATATTGTATAATAATATATAGGTATATATTATCTATATTGTATAATAATATATAGGTATATATTATCTATATTGTATAATAATATATAGGCATATATTATTATCTGGTGATAATTTATATCATAAATTGAGTATTAATATATACAAATCCAACACAAGTGTCTCATTTATTTTTACTATTTAATAGAAAAGCTGTCAACCTTAACCTGGAGGAAGCAGGGGCAGGGATGGGAGAGAGGGATAGAGAAAGGGGTAGCTCTCTGTTTTATCAGTTGTGCCAAATATTTGGAAATTTACTTCACAGAATGCTACTGCCCTCTGATTGATTTGGAGTCTCCCGCCCACTTCCCGCGTTCCCGTCACCGTGGAGAAGGGGACAACTTGCTCATTGTTGCCACCTGTCCAGGTCATTGAAAGGCAAGGGACACCCAAGAGTAGGAAGAAATGGGAAGCAGTCCATTCTTAAGCCTGGTGTTCAGAGTCCGTGGAAATTTTAAGTGCAGGCCCAGGGAGTGAAGAATGGGGGCCACAGTGGCGGGGGCAGGAGGAATATGGGTGGGCCAGGTCACATTTCCACCTCTCCTTGACCTACAACCAAAAGTCTTACAGAGGGACACAAATAGATCACTCAGATTGATCGTGTGCACTTAACCACGGGCCCCTGCAGGATTTGCTCCCCTGTCTTCTTCCTTTCTCGAGGGAGTATCTCCCACGTCTCCGATCCAGCAGGATGCAGCCCACATGTGGTCTTACACCGTAAGCTGGCAGGGCACTAAGGTGTCATAGAGCTGTGTTCAGTGTTTACCTTCAAGAGCAATGCCCTCCCTCTAGCATACCTCCCTTCTCAAGTTTTGGTTTCTGGTCCTGTTCAACAGTGGGTTCCACATAGTGCCAAGGTTTACCAGAGAGGCAAGTTCATGTTTGTGTGAGGCTGCTAACCCTGGCGGTGTGGCTTCAGTGTCCTTACTCTCGGTTGAAAAATCAACAGAAGAAGTCCTTAGGACTGCTATTTGGGCATGCCTACAGAACGGAGGATTAATGGAAAACAAACTAAAGAACAAACCACAAGTCAATATGTACTTTCCAATAATCTTTTCATTTTTAATATCAATTGATGTTTTAAAAAATACAGAGGTGTTTGACACAGAATAGCACCATTGTGTAGGACACACACAGTTCCTGCGCCCGGCACCTGAAGGGAGGTCTTCTGGCCTGGGCTGGGGGCAGTCACTCAGGGGGCATTTGACTCACACCAGTTAGTTTCCTGCCTCTGCCTTGACCCGAAGGTCTTACAGGAAGACAATAAATAAATAGAACACCGAGATTTTATTTTGCAGTCTGCCCAGTTCAGGTCTCTTAGAAAGAGAGGGGAGAAAAGTCCGAACTGTGAGAGGGTGGGATGAATGGACATCAGGTCAGGTCAGCCATTCAGTGCAGAGTCCTAGAGTGACTGAGATTGGAAAGTACTTGGGTCCTTTGGGTTTGCAACGGATTGTGTTGTTTCTGGGTTCAGGTTTTTACAAGAAGCAGACCGGCCCTATGTCCACACCGAATTCCTGCTCGGGCCCTCCTATGTCCATGGGTGCAATGTCAATGATGGGGAGGCGTGAGGTCTTCTGTGACCGGTACTCGATAACAGTCTTGCCCCACTTACCGGTATGTTTCTAGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTCACTGGGTTCCAGGTAGGGTTTTGTTCCCCTGAGCCAGGGGAATGGAGAAGATGGAATGATATGTGCCTCTCTCTCACCTGTCACTCAGCCTATCTTCTCTACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTC
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TGTTTTCAGTGATCATGTTTTCATTTTACTCCTTTGTCATGAACTAGCTCTGGTGGGGTATATAGTATTATTGTAGGTGTATATGTATGTATGTGTATATACATACATACATATATAAACCTAGGTATATATTATATATATTATTAAATAATATATAGGTATATATAGGTATATATAGGTGTATATATATAGGTATATATTATATATAGGTATATATTATTTAATAATATATAGGTATACATTAATAATATATAGGTATATATTATTTGTATAATAATATATGTATATATTTGTATAATATATGTATATATTATTATATTGTATAATAATATATGTATATATTATTATATTGTATAATAATATATGTATATATTATTATATTGTATAATAATATATGTATATATTATTATATTGTATAATAATATATGTATATATTATTATATTGTATAATAATATATAGGTATATATTATCTATATTGTATAATAATATATAGGTATATATTATCTATATTGTATAATAATATATAGGTATATATTATCTATATTGTATAATAATATATAGGCATATATTATTATCTGGTGATAATTTATATCATAAATTGAGTATTAATATATACAAATCCAACACAAGTGTCTCATTTATTTTTACTATTTAATAGAAAAGCTGTCAACCTTAACCTGGAGGAAGCAGGGGCAGGGATGGGAGAGAGGGATAGAGAAAGGGGTAGCTCTCTGTTTTATCAGTTGTGCCAAATATTTGGAAATTTACTTCACAGAATGCTACTGCCCTCTGATTGATTTGGAGTCTCCCGCCCACTTCCCGCGTTCCCGTCACCGTGGAGAAGGGGACAACTTGCTCATTGTTGCCACCTGTCCAGGTCATTGAAAGGCAAGGGACACCCAAGAGTAGGAAGAAATGGGAAGCAGTCCATTCTTAAGCCTGGTGTTCAGAGTCCGTGGAAATTTTAAGTGCAGGCCCAGGGAGTGAAGAATGGGGGCCACAGTGGCGGGGGCAGGAGGAATATGGGTGGGCCAGGTCACATTTCCACCTCTCCTTGACCTACAACCAAAAGTCTTACAGAGGGACACAAATAGATCACTCAGATTGATCGTGTGCACTTAACCACGGGCCCCTGCAGGATTTGCTCCCCTGTCTTCTTCCTTTCTCGAGGGAGTATCTCCCACGTCTCCGATCCAGCAGGATGCAGCCCACATGTGGTCTTACACCGTAAGCTGGCAGGGCACTAAGGTGTCATAGAGCTGTGTTCAGTGTTTACCTTCAAGAGCAATGCCCTCCCTCTAGCATACCTCCCTTCTCAAGTTTTGGTTTCTGGTCCTGTTCAACAGTGGGTTCCACATAGTGCCAAGGTTTACCAGAGAGGCAAGTTCATGTTTGTGTGAGGCTGCTAACCCTGGCGGTGTGGCTTCAGTGTCCTTACTCTCGGTTGAAAAATCAACAGAAGAAGTCCTTAGGACTGCTATTTGGGCATGCCTACAGAACGGAGGATTAATGGAAAACAAACTAAAGAACAAACCACAAGTCAATATGTACTTTCCAATAATCTTTTCATTTTTAATATCAATTGATGTTTTAAAAAATACAGAGGTGTTTGACACAGAATAGCACCATTGTGTAGGACACACACAGTTCCTGCGCCCGGCACCTGAAGGGAGGTCTTCTGGCCTGGGCTGGGGGCAGTCACTCAGGGGGCATTTGACTCACACCAGTTAGTTTCCTGCCTCTGCCTTGACCCGAAGGTCTTACAGGAAGACAATAAATAAATAGAACACCGAGATTTTATTTTGCAGTCTGCCCAGTTCAGGTCTCTTAGAAAGAGAGGGGAGAAAAGTCCGAACTGTGAGAGGGTGGGATGAATGGACATCAGGTCAGGTCAGCCATTCAGTGCAGAGTCCTAGAGTGACTGAGATTGGAAAGTACTTGGGTCCTTTGGGTTTGCAACGGATTGTGTTGTTTCTGGGTTCAGGTTTTTACAAGAAGCAGACCGGCCCTATGTCCACACCGAATTCCTGCTCGGGCCCTCCTATGTACATGGGTGCAATGTCAATGATGGGGAGGCGTGAGGTCTTCTGTGACCGGTACTCGATAACAGTCTTGCCCCACTTACCGGTATGTTTCTAGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTCACTGGGTTCCAGGTAGGGTTTTGTTCCCCTGAGCCAGGGGAATGGAGAAGATGGAATGATATGTGCCTCTCTCTCACCTGTCACTCAGCCTATCTTCTCTACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTC
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Task1_train_17317
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This mutation is located in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Stickler syndrome type 1
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TTCACAGAATGCTACTGCCCTCTGATTGATTTGGAGTCTCCCGCCCACTTCCCGCGTTCCCGTCACCGTGGAGAAGGGGACAACTTGCTCATTGTTGCCACCTGTCCAGGTCATTGAAAGGCAAGGGACACCCAAGAGTAGGAAGAAATGGGAAGCAGTCCATTCTTAAGCCTGGTGTTCAGAGTCCGTGGAAATTTTAAGTGCAGGCCCAGGGAGTGAAGAATGGGGGCCACAGTGGCGGGGGCAGGAGGAATATGGGTGGGCCAGGTCACATTTCCACCTCTCCTTGACCTACAACCAAAAGTCTTACAGAGGGACACAAATAGATCACTCAGATTGATCGTGTGCACTTAACCACGGGCCCCTGCAGGATTTGCTCCCCTGTCTTCTTCCTTTCTCGAGGGAGTATCTCCCACGTCTCCGATCCAGCAGGATGCAGCCCACATGTGGTCTTACACCGTAAGCTGGCAGGGCACTAAGGTGTCATAGAGCTGTGTTCAGTGTTTACCTTCAAGAGCAATGCCCTCCCTCTAGCATACCTCCCTTCTCAAGTTTTGGTTTCTGGTCCTGTTCAACAGTGGGTTCCACATAGTGCCAAGGTTTACCAGAGAGGCAAGTTCATGTTTGTGTGAGGCTGCTAACCCTGGCGGTGTGGCTTCAGTGTCCTTACTCTCGGTTGAAAAATCAACAGAAGAAGTCCTTAGGACTGCTATTTGGGCATGCCTACAGAACGGAGGATTAATGGAAAACAAACTAAAGAACAAACCACAAGTCAATATGTACTTTCCAATAATCTTTTCATTTTTAATATCAATTGATGTTTTAAAAAATACAGAGGTGTTTGACACAGAATAGCACCATTGTGTAGGACACACACAGTTCCTGCGCCCGGCACCTGAAGGGAGGTCTTCTGGCCTGGGCTGGGGGCAGTCACTCAGGGGGCATTTGACTCACACCAGTTAGTTTCCTGCCTCTGCCTTGACCCGAAGGTCTTACAGGAAGACAATAAATAAATAGAACACCGAGATTTTATTTTGCAGTCTGCCCAGTTCAGGTCTCTTAGAAAGAGAGGGGAGAAAAGTCCGAACTGTGAGAGGGTGGGATGAATGGACATCAGGTCAGGTCAGCCATTCAGTGCAGAGTCCTAGAGTGACTGAGATTGGAAAGTACTTGGGTCCTTTGGGTTTGCAACGGATTGTGTTGTTTCTGGGTTCAGGTTTTTACAAGAAGCAGACCGGCCCTATGTCCACACCGAATTCCTGCTCGGGCCCTCCTATGTCCATGGGTGCAATGTCAATGATGGGGAGGCGTGAGGTCTTCTGTGACCGGTACTCGATAACAGTCTTGCCCCACTTACCGGTATGTTTCTAGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTCACTGGGTTCCAGGTAGGGTTTTGTTCCCCTGAGCCAGGGGAATGGAGAAGATGGAATGATATGTGCCTCTCTCTCACCTGTCACTCAGCCTATCTTCTCTACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGT
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TTCACAGAATGCTACTGCCCTCTGATTGATTTGGAGTCTCCCGCCCACTTCCCGCGTTCCCGTCACCGTGGAGAAGGGGACAACTTGCTCATTGTTGCCACCTGTCCAGGTCATTGAAAGGCAAGGGACACCCAAGAGTAGGAAGAAATGGGAAGCAGTCCATTCTTAAGCCTGGTGTTCAGAGTCCGTGGAAATTTTAAGTGCAGGCCCAGGGAGTGAAGAATGGGGGCCACAGTGGCGGGGGCAGGAGGAATATGGGTGGGCCAGGTCACATTTCCACCTCTCCTTGACCTACAACCAAAAGTCTTACAGAGGGACACAAATAGATCACTCAGATTGATCGTGTGCACTTAACCACGGGCCCCTGCAGGATTTGCTCCCCTGTCTTCTTCCTTTCTCGAGGGAGTATCTCCCACGTCTCCGATCCAGCAGGATGCAGCCCACATGTGGTCTTACACCGTAAGCTGGCAGGGCACTAAGGTGTCATAGAGCTGTGTTCAGTGTTTACCTTCAAGAGCAATGCCCTCCCTCTAGCATACCTCCCTTCTCAAGTTTTGGTTTCTGGTCCTGTTCAACAGTGGGTTCCACATAGTGCCAAGGTTTACCAGAGAGGCAAGTTCATGTTTGTGTGAGGCTGCTAACCCTGGCGGTGTGGCTTCAGTGTCCTTACTCTCGGTTGAAAAATCAACAGAAGAAGTCCTTAGGACTGCTATTTGGGCATGCCTACAGAACGGAGGATTAATGGAAAACAAACTAAAGAACAAACCACAAGTCAATATGTACTTTCCAATAATCTTTTCATTTTTAATATCAATTGATGTTTTAAAAAATACAGAGGTGTTTGACACAGAATAGCACCATTGTGTAGGACACACACAGTTCCTGCGCCCGGCACCTGAAGGGAGGTCTTCTGGCCTGGGCTGGGGGCAGTCACTCAGGGGGCATTTGACTCACACCAGTTAGTTTCCTGCCTCTGCCTTGACCCGAAGGTCTTACAGGAAGACAATAAATAAATAGAACACCGAGATTTTATTTTGCAGTCTGCCCAGTTCAGGTCTCTTAGAAAGAGAGGGGAGAAAAGTCCGAACTGTGAGAGGGTGGGATGAATGGACATCAGGTCAGGTCAGCCATTCAGTGCAGAGTCCTAGAGTGACTGAGATTGGAAAGTACTTGGGTCCTTTGGGTTTGCAACGGATTGTGTTGTTTCTGGGTTCAGGTTTTTACAAGAAGCAGACCGGCCCTATGTCCACACCGAATTCCTGCTCGGGCCCTCCTATGTCCATGGGTGCAATGTCAATGATGGGGAGGCGTGAGGTCTTCTGTGACCGGTACTCGATAACAGTCTTGCCCCACTTACCGGTATGTTTCTAGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTCACTGGGTTCCAGGTAGGGTTTTGTTCCCCTGAGCCAGGGGAATGGAGAAGATGGAATGATATGTGCCTCTCTCTCACCTGTCACTCAGCCTATCTTCTCTACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTGGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGT
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Task1_train_17318
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The gene COL2A1 (collagen type II alpha 1 chain), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; not provided
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ATTGTTGCCACCTGTCCAGGTCATTGAAAGGCAAGGGACACCCAAGAGTAGGAAGAAATGGGAAGCAGTCCATTCTTAAGCCTGGTGTTCAGAGTCCGTGGAAATTTTAAGTGCAGGCCCAGGGAGTGAAGAATGGGGGCCACAGTGGCGGGGGCAGGAGGAATATGGGTGGGCCAGGTCACATTTCCACCTCTCCTTGACCTACAACCAAAAGTCTTACAGAGGGACACAAATAGATCACTCAGATTGATCGTGTGCACTTAACCACGGGCCCCTGCAGGATTTGCTCCCCTGTCTTCTTCCTTTCTCGAGGGAGTATCTCCCACGTCTCCGATCCAGCAGGATGCAGCCCACATGTGGTCTTACACCGTAAGCTGGCAGGGCACTAAGGTGTCATAGAGCTGTGTTCAGTGTTTACCTTCAAGAGCAATGCCCTCCCTCTAGCATACCTCCCTTCTCAAGTTTTGGTTTCTGGTCCTGTTCAACAGTGGGTTCCACATAGTGCCAAGGTTTACCAGAGAGGCAAGTTCATGTTTGTGTGAGGCTGCTAACCCTGGCGGTGTGGCTTCAGTGTCCTTACTCTCGGTTGAAAAATCAACAGAAGAAGTCCTTAGGACTGCTATTTGGGCATGCCTACAGAACGGAGGATTAATGGAAAACAAACTAAAGAACAAACCACAAGTCAATATGTACTTTCCAATAATCTTTTCATTTTTAATATCAATTGATGTTTTAAAAAATACAGAGGTGTTTGACACAGAATAGCACCATTGTGTAGGACACACACAGTTCCTGCGCCCGGCACCTGAAGGGAGGTCTTCTGGCCTGGGCTGGGGGCAGTCACTCAGGGGGCATTTGACTCACACCAGTTAGTTTCCTGCCTCTGCCTTGACCCGAAGGTCTTACAGGAAGACAATAAATAAATAGAACACCGAGATTTTATTTTGCAGTCTGCCCAGTTCAGGTCTCTTAGAAAGAGAGGGGAGAAAAGTCCGAACTGTGAGAGGGTGGGATGAATGGACATCAGGTCAGGTCAGCCATTCAGTGCAGAGTCCTAGAGTGACTGAGATTGGAAAGTACTTGGGTCCTTTGGGTTTGCAACGGATTGTGTTGTTTCTGGGTTCAGGTTTTTACAAGAAGCAGACCGGCCCTATGTCCACACCGAATTCCTGCTCGGGCCCTCCTATGTCCATGGGTGCAATGTCAATGATGGGGAGGCGTGAGGTCTTCTGTGACCGGTACTCGATAACAGTCTTGCCCCACTTACCGGTATGTTTCTAGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTCACTGGGTTCCAGGTAGGGTTTTGTTCCCCTGAGCCAGGGGAATGGAGAAGATGGAATGATATGTGCCTCTCTCTCACCTGTCACTCAGCCTATCTTCTCTACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACAT
|
ATTGTTGCCACCTGTCCAGGTCATTGAAAGGCAAGGGACACCCAAGAGTAGGAAGAAATGGGAAGCAGTCCATTCTTAAGCCTGGTGTTCAGAGTCCGTGGAAATTTTAAGTGCAGGCCCAGGGAGTGAAGAATGGGGGCCACAGTGGCGGGGGCAGGAGGAATATGGGTGGGCCAGGTCACATTTCCACCTCTCCTTGACCTACAACCAAAAGTCTTACAGAGGGACACAAATAGATCACTCAGATTGATCGTGTGCACTTAACCACGGGCCCCTGCAGGATTTGCTCCCCTGTCTTCTTCCTTTCTCGAGGGAGTATCTCCCACGTCTCCGATCCAGCAGGATGCAGCCCACATGTGGTCTTACACCGTAAGCTGGCAGGGCACTAAGGTGTCATAGAGCTGTGTTCAGTGTTTACCTTCAAGAGCAATGCCCTCCCTCTAGCATACCTCCCTTCTCAAGTTTTGGTTTCTGGTCCTGTTCAACAGTGGGTTCCACATAGTGCCAAGGTTTACCAGAGAGGCAAGTTCATGTTTGTGTGAGGCTGCTAACCCTGGCGGTGTGGCTTCAGTGTCCTTACTCTCGGTTGAAAAATCAACAGAAGAAGTCCTTAGGACTGCTATTTGGGCATGCCTACAGAACGGAGGATTAATGGAAAACAAACTAAAGAACAAACCACAAGTCAATATGTACTTTCCAATAATCTTTTCATTTTTAATATCAATTGATGTTTTAAAAAATACAGAGGTGTTTGACACAGAATAGCACCATTGTGTAGGACACACACAGTTCCTGCGCCCGGCACCTGAAGGGAGGTCTTCTGGCCTGGGCTGGGGGCAGTCACTCAGGGGGCATTTGACTCACACCAGTTAGTTTCCTGCCTCTGCCTTGACCCGAAGGTCTTACAGGAAGACAATAAATAAATAGAACACCGAGATTTTATTTTGCAGTCTGCCCAGTTCAGGTCTCTTAGAAAGAGAGGGGAGAAAAGTCCGAACTGTGAGAGGGTGGGATGAATGGACATCAGGTCAGGTCAGCCATTCAGTGCAGAGTCCTAGAGTGACTGAGATTGGAAAGTACTTGGGTCCTTTGGGTTTGCAACGGATTGTGTTGTTTCTGGGTTCAGGTTTTTACAAGAAGCAGACCGGCCCTATGTCCACACCGAATTCCTGCTCGGGCCCTCCTATGTCCATGGGTGCAATGTCAATGATGGGGAGGCGTGAGGTCTTCTGTGACCGGTACTCGATAACAGTCTTGCCCCACTTACCGGTATGTTTCTAGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTCACTGGGTTCCAGGTAGGGTTTTGTTCCCCTGAGCCAGGGGAATGGAGAAGATGGAATGATATGTGCCTCTCTCTCACCTGTCACTCAGCCTATCTTCTCTACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATCGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACAT
|
Task1_train_17319
|
A mutation found in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; not provided
|
CTCAAGTTTTGGTTTCTGGTCCTGTTCAACAGTGGGTTCCACATAGTGCCAAGGTTTACCAGAGAGGCAAGTTCATGTTTGTGTGAGGCTGCTAACCCTGGCGGTGTGGCTTCAGTGTCCTTACTCTCGGTTGAAAAATCAACAGAAGAAGTCCTTAGGACTGCTATTTGGGCATGCCTACAGAACGGAGGATTAATGGAAAACAAACTAAAGAACAAACCACAAGTCAATATGTACTTTCCAATAATCTTTTCATTTTTAATATCAATTGATGTTTTAAAAAATACAGAGGTGTTTGACACAGAATAGCACCATTGTGTAGGACACACACAGTTCCTGCGCCCGGCACCTGAAGGGAGGTCTTCTGGCCTGGGCTGGGGGCAGTCACTCAGGGGGCATTTGACTCACACCAGTTAGTTTCCTGCCTCTGCCTTGACCCGAAGGTCTTACAGGAAGACAATAAATAAATAGAACACCGAGATTTTATTTTGCAGTCTGCCCAGTTCAGGTCTCTTAGAAAGAGAGGGGAGAAAAGTCCGAACTGTGAGAGGGTGGGATGAATGGACATCAGGTCAGGTCAGCCATTCAGTGCAGAGTCCTAGAGTGACTGAGATTGGAAAGTACTTGGGTCCTTTGGGTTTGCAACGGATTGTGTTGTTTCTGGGTTCAGGTTTTTACAAGAAGCAGACCGGCCCTATGTCCACACCGAATTCCTGCTCGGGCCCTCCTATGTCCATGGGTGCAATGTCAATGATGGGGAGGCGTGAGGTCTTCTGTGACCGGTACTCGATAACAGTCTTGCCCCACTTACCGGTATGTTTCTAGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTCACTGGGTTCCAGGTAGGGTTTTGTTCCCCTGAGCCAGGGGAATGGAGAAGATGGAATGATATGTGCCTCTCTCTCACCTGTCACTCAGCCTATCTTCTCTACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGAC
|
CTCAAGTTTTGGTTTCTGGTCCTGTTCAACAGTGGGTTCCACATAGTGCCAAGGTTTACCAGAGAGGCAAGTTCATGTTTGTGTGAGGCTGCTAACCCTGGCGGTGTGGCTTCAGTGTCCTTACTCTCGGTTGAAAAATCAACAGAAGAAGTCCTTAGGACTGCTATTTGGGCATGCCTACAGAACGGAGGATTAATGGAAAACAAACTAAAGAACAAACCACAAGTCAATATGTACTTTCCAATAATCTTTTCATTTTTAATATCAATTGATGTTTTAAAAAATACAGAGGTGTTTGACACAGAATAGCACCATTGTGTAGGACACACACAGTTCCTGCGCCCGGCACCTGAAGGGAGGTCTTCTGGCCTGGGCTGGGGGCAGTCACTCAGGGGGCATTTGACTCACACCAGTTAGTTTCCTGCCTCTGCCTTGACCCGAAGGTCTTACAGGAAGACAATAAATAAATAGAACACCGAGATTTTATTTTGCAGTCTGCCCAGTTCAGGTCTCTTAGAAAGAGAGGGGAGAAAAGTCCGAACTGTGAGAGGGTGGGATGAATGGACATCAGGTCAGGTCAGCCATTCAGTGCAGAGTCCTAGAGTGACTGAGATTGGAAAGTACTTGGGTCCTTTGGGTTTGCAACGGATTGTGTTGTTTCTGGGTTCAGGTTTTTACAAGAAGCAGACCGGCCCTATGTCCACACCGAATTCCTGCTCGGGCCCTCCTATGTCCATGGGTGCAATGTCAATGATGGGGAGGCGTGAGGTCTTCTGTGACCGGTACTCGATAACAGTCTTGCCCCACTTACCGGTATGTTTCTAGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTCACTGGGTTCCAGGTAGGGTTTTGTTCCCCTGAGCCAGGGGAATGGAGAAGATGGAATGATATGTGCCTCTCTCTCACCTGTCACTCAGCCTATCTTCTCTACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGGAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGAC
|
Task1_train_17320
|
A mutation in COL2A1 (collagen type II alpha 1 chain), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; not provided
|
TTTACCAGAGAGGCAAGTTCATGTTTGTGTGAGGCTGCTAACCCTGGCGGTGTGGCTTCAGTGTCCTTACTCTCGGTTGAAAAATCAACAGAAGAAGTCCTTAGGACTGCTATTTGGGCATGCCTACAGAACGGAGGATTAATGGAAAACAAACTAAAGAACAAACCACAAGTCAATATGTACTTTCCAATAATCTTTTCATTTTTAATATCAATTGATGTTTTAAAAAATACAGAGGTGTTTGACACAGAATAGCACCATTGTGTAGGACACACACAGTTCCTGCGCCCGGCACCTGAAGGGAGGTCTTCTGGCCTGGGCTGGGGGCAGTCACTCAGGGGGCATTTGACTCACACCAGTTAGTTTCCTGCCTCTGCCTTGACCCGAAGGTCTTACAGGAAGACAATAAATAAATAGAACACCGAGATTTTATTTTGCAGTCTGCCCAGTTCAGGTCTCTTAGAAAGAGAGGGGAGAAAAGTCCGAACTGTGAGAGGGTGGGATGAATGGACATCAGGTCAGGTCAGCCATTCAGTGCAGAGTCCTAGAGTGACTGAGATTGGAAAGTACTTGGGTCCTTTGGGTTTGCAACGGATTGTGTTGTTTCTGGGTTCAGGTTTTTACAAGAAGCAGACCGGCCCTATGTCCACACCGAATTCCTGCTCGGGCCCTCCTATGTCCATGGGTGCAATGTCAATGATGGGGAGGCGTGAGGTCTTCTGTGACCGGTACTCGATAACAGTCTTGCCCCACTTACCGGTATGTTTCTAGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTCACTGGGTTCCAGGTAGGGTTTTGTTCCCCTGAGCCAGGGGAATGGAGAAGATGGAATGATATGTGCCTCTCTCTCACCTGTCACTCAGCCTATCTTCTCTACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTC
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TTTACCAGAGAGGCAAGTTCATGTTTGTGTGAGGCTGCTAACCCTGGCGGTGTGGCTTCAGTGTCCTTACTCTCGGTTGAAAAATCAACAGAAGAAGTCCTTAGGACTGCTATTTGGGCATGCCTACAGAACGGAGGATTAATGGAAAACAAACTAAAGAACAAACCACAAGTCAATATGTACTTTCCAATAATCTTTTCATTTTTAATATCAATTGATGTTTTAAAAAATACAGAGGTGTTTGACACAGAATAGCACCATTGTGTAGGACACACACAGTTCCTGCGCCCGGCACCTGAAGGGAGGTCTTCTGGCCTGGGCTGGGGGCAGTCACTCAGGGGGCATTTGACTCACACCAGTTAGTTTCCTGCCTCTGCCTTGACCCGAAGGTCTTACAGGAAGACAATAAATAAATAGAACACCGAGATTTTATTTTGCAGTCTGCCCAGTTCAGGTCTCTTAGAAAGAGAGGGGAGAAAAGTCCGAACTGTGAGAGGGTGGGATGAATGGACATCAGGTCAGGTCAGCCATTCAGTGCAGAGTCCTAGAGTGACTGAGATTGGAAAGTACTTGGGTCCTTTGGGTTTGCAACGGATTGTGTTGTTTCTGGGTTCAGGTTTTTACAAGAAGCAGACCGGCCCTATGTCCACACCGAATTCCTGCTCGGGCCCTCCTATGTCCATGGGTGCAATGTCAATGATGGGGAGGCGTGAGGTCTTCTGTGACCGGTACTCGATAACAGTCTTGCCCCACTTACCGGTATGTTTCTAGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTCACTGGGTTCCAGGTAGGGTTTTGTTCCCCTGAGCCAGGGGAATGGAGAAGATGGAATGATATGTGCCTCTCTCTCACCTGTCACTCAGCCTATCTTCTCTACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGTCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTC
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Task1_train_17321
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Consider this mutation in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is this a benign change or a disease-causing variant?
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Pathogenic; Type 2 collagenopathy
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ACTTACCGGTATGTTTCTAGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTCACTGGGTTCCAGGTAGGGTTTTGTTCCCCTGAGCCAGGGGAATGGAGAAGATGGAATGATATGTGCCTCTCTCTCACCTGTCACTCAGCCTATCTTCTCTACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGG
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ACTTACCGGTATGTTTCTAGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTCACTGGGTTCCAGGTAGGGTTTTGTTCCCCTGAGCCAGGGGAATGGAGAAGATGGAATGATATGTGCCTCTCTCTCACCTGTCACTCAGCCTATCTTCTCTACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTGCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGG
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Task1_train_17322
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Given a variant located on Chromosome 12 and affecting COL2A1 (collagen type II alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; not provided
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AGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTCACTGGGTTCCAGGTAGGGTTTTGTTCCCCTGAGCCAGGGGAATGGAGAAGATGGAATGATATGTGCCTCTCTCTCACCTGTCACTCAGCCTATCTTCTCTACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTT
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AGGGGAGAAAAAAGGAGGAGGCTCTGTTCAGTAGATGCCTTGCTACCCAGTTCCAGCTGCCCAGAAGCCCAAAACTGAACAAACTGGCGAGCATCAGAGCCCACAAGGTTGAACCACACTGAGGGGGCTCCTGAGACCTCTTCTTGGCTTGCCAAAGGCCTCTCCACTTCAACTCCTATCCTTAGCGGCAGGGCCCTTCTCCACCCTGCCCTTCCCCTCCTTCCCCACTCCCCACAGTGAGCTCCCAACCTGTGACCGCTTCTTCACCCTGTACACATTGCGAGAACACTTCTACAGTAGTCACTGGGTTCCAGGTAGGGTTTTGTTCCCCTGAGCCAGGGGAATGGAGAAGATGGAATGATATGTGCCTCTCTCTCACCTGTCACTCAGCCTATCTTCTCTACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGATCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTT
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Task1_train_17323
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A variant was discovered in gene COL2A1 (collagen type II alpha 1 chain), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Spondyloepimetaphyseal dysplasia, Strudwick type
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ACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGAC
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ACATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCTCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGAC
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Task1_train_17324
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Mutation context: Chromosome 12, Gene COL2A1 (collagen type II alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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CATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACC
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CATGACCCTCAAACTCATGCCTCTGATGATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCGAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACC
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Task1_train_17325
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A variant was discovered in gene COL2A1 (collagen type II alpha 1 chain), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not provided
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GATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCC
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GATCCTGTCACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACTATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCC
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Task1_train_17326
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This is a variant in COL2A1 (collagen type II alpha 1 chain), located on Chromosome 12. Is this mutation a likely cause of disease or not?
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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ACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCC
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ACTTTAGGACCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCGAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCC
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Task1_train_17327
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This variant affects the gene COL2A1 (collagen type II alpha 1 chain) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Avascular necrosis of femoral head, primary, 1
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACTGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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Task1_train_17328
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Gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Namaqualand hip dysplasia
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACTGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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Task1_train_17329
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This variant lies on Chromosome 12 and affects the gene COL2A1 (collagen type II 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; Achondrogenesis type II
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACTGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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Task1_train_17330
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The gene COL2A1 (collagen type II alpha 1 chain) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Spondyloepiphyseal dysplasia, Stanescu type
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACTGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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Task1_train_17331
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This is a variant in COL2A1 (collagen type II alpha 1 chain), located on Chromosome 12. Is this mutation a likely cause of disease or not?
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Pathogenic; Vitreoretinopathy with phalangeal epiphyseal dysplasia
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACTGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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Task1_train_17332
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Gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Stickler syndrome, type I, nonsyndromic ocular
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACTGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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Task1_train_17333
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An alteration has been detected in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Platyspondylic dysplasia, Torrance type
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACTGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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Task1_train_17334
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A change on Chromosome 12 affects gene COL2A1 (collagen type II alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Spondyloperipheral dysplasia
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACTGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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Task1_train_17335
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Consider this mutation in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is this a benign change or a disease-causing variant?
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Pathogenic; Stickler syndrome type 1
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACTGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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Task1_train_17336
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A change on Chromosome 12 affects gene COL2A1 (collagen type II alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Multiple epiphyseal dysplasia, Beighton type
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACTGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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Task1_train_17337
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Located on Chromosome 12, this mutation impacts COL2A1 (collagen type II 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; Spondyloepiphyseal dysplasia with metatarsal shortening
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACTGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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Task1_train_17338
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Given this variant in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Kniest dysplasia
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACTGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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Task1_train_17339
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Here is a mutation in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Spondyloepimetaphyseal dysplasia, Strudwick type
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACTGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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Task1_train_17340
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This variant affects gene COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. Evaluate its biological effect and specify any disease association.
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACTGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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Task1_train_17341
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This variant impacts the gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Legg-Calve-Perthes disease
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACTGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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Task1_train_17342
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A mutation in COL2A1 (collagen type II alpha 1 chain), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Avascular necrosis of femoral head, primary, 1
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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CCTGACAGCTGCCGCGGGCCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACTGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACC
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Task1_train_17343
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This gene mutation involves COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Stickler syndrome type 1
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CCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACC
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CCAACCCTCAGCCCTGCTCCAGGCGGTTTGGGCACAGGCAGCTCTTCTCTCTGGCAGCCCCACTCACCGTGCAGCCATCCTTCAGGGCAGTGTACGTGAACCTGCTATTGCCCTCTGCCCGGATCTCCACGTCATTGGAGCCCTGGATGAGCAGGGCCTTCTTGAGGTTGCCAGCTGCTTCGTCCAGATAGGCAATGCTGTTCTTGCAGTGGTAGGTGATGTTCTGGGAGCCTTCCGTGGACAGCAGGCGTAGGAAGGTCATCTGGACGTTGGCAGTGTTGGGAGCCAGATTGTCATCTCCATAGCTGAACTGTTGGGGCAGAGAGCGGCAGTGTGAGGCCTGGGAGCTGGCATTCAATGGGACCAGGGGCTGTAGGGGCTGCCAAGAGTTCATGGTTCAAGGACCTCAAGGGTACTGGGGCAGCAGGGAGCTAGTTGGACATTTTTGCTTCCAGGAGTGGAGCAAGCTCAGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACTCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACC
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Task1_train_17344
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Consider this mutation in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is this a benign change or a disease-causing variant?
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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AGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGA
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AGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACGAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGA
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Task1_train_17345
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Given this variant in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Spondyloperipheral dysplasia
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AGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGA
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AGAGGACCTCTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACTAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGA
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Task1_train_17346
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This variant affects gene COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. Evaluate its biological effect and specify any disease association.
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Pathogenic; Spondyloepiphyseal dysplasia, Stanescu type
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CTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTAC
|
CTTTTCCCACCTCCACGTGGGGAAAAAATACTTTTCCTCCTCTTTCCCTCCTCTCAAGCCCAACAGAAAACTGGAGGAAAATATGGGGAAGGTGCTAAAAGCTTCCAGGGAGAAAGAAAAGAAAGAGTTTGAGGAGCCATCTCTGCTCATCATCTAGGGCACCCAGGTACTCACATGGAAGCCACCATTGATGGTTTCTCCAAACCAGATGTGTTTCTTCTCCTTGCTCTTGCTGCTCCACCAGTTCTTCTTGGGAACGTTTGCTGGATTGGGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACGTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTAC
|
Task1_train_17347
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Gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; not provided
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GGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCT
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GGGTAGACGCAAGTCTCGCCAGTCTCCATGTTGCAGAAAACCTTCATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCTGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCT
|
Task1_train_17348
|
An alteration has been detected in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; not provided
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ATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAA
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ATGGCGTCCAAGGTGCAGCCTTGGTTGGGGTCAATCCAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCGTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAA
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Task1_train_17349
|
Gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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CAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCT
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CAGTAGTCTCCTGCAGGGGGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACATCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCT
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Task1_train_17350
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Located on Chromosome 12, this mutation impacts COL2A1 (collagen type II 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; not provided
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GGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAA
|
GGAAGAGGCAGCACCCATGGGGGCTCAGACAGGCACAGACACAAAAGCTTGAGAGACCCAGGCCTGACTGAAAGAGACAGAGAGGCCTACAGGGACAAGGGATGAGGTTCACATGTGGCCTGAAAGGAGGGGGACCTGGGAGGATGCAGGGGCAGGGAGATCTGCATGAGCTAAGTCCAGCCCTAAGGAAGAACACATGCAAAGAGAGCAGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACACTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAA
|
Task1_train_17351
|
This alteration occurs within gene COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Spondyloepiphyseal dysplasia congenita
|
AGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTG
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AGAAGCAGTGCCCAGCTGGTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCTTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTG
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Task1_train_17352
|
Gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; not provided
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GTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATG
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GTGGATGGAGTCCACCCTGAGGTCACCTCGGCCAGGTAGCCATGGCAGGACAGGGGCCAGGGCTGCAGCTTCTCTGCTGTGAAATAAGAGAGGAACCCTCTGGCGGAAACTTCCAGGCCCAGCTCTGCCCTGTACTAGGGGGCATCTCCTCCCTTGCTGCTAGGCCTAAGGGATGACTCCCTGCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCATTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATG
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Task1_train_17353
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Given a variant located on Chromosome 12 and affecting COL2A1 (collagen type II 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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GCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCA
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GCTTCCCGGGGCAGGGGATCCTGTTCTCCAAGCTTACCACTCTTCCACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCTTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCA
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Task1_train_17354
|
The gene COL2A1 (collagen type II alpha 1 chain), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Hypochondrogenesis
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CACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAA
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CACTCAGGGTGGCAGAGTTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCTAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAA
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Task1_train_17355
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A variant found in Chromosome 12 affects COL2A1 (collagen type II alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; not provided
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TTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCT
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TTTCAGGTCTCTGCAGGTGCGAGCAGGGTTCTTGCGGGAGCCCTCGGGGCTGCGGATGCTCTCAATCTGGTTGTTGAGGGACTTGAGTGTGGCATCCACCTCGGCGTCATGCTGTCTCAGGCCACCGGCTGCCTGGTCGGCCCGCATGTACTGCAGGGGGTCGGGGCCCTTCTCTCTCGGGCCTAAGCCAGCAAAGGCGGACATGTCGATGCCAGGGCCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTTCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCT
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Task1_train_17356
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This variant affects the gene COL2A1 (collagen type II alpha 1 chain) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Hypochondrogenesis
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CCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCC
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CCAGGGGGACCTGGAGGACCAGGGGGTCCAGGATTTCCAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTTCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCC
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Task1_train_17357
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Here is a variant affecting COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Achondrogenesis type II
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17358
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This sequence variant lies in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Type 2 collagenopathy
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17359
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This mutation is located in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Spondyloperipheral dysplasia
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17360
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This variant impacts the gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Achondrogenesis type II
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17361
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Gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Namaqualand hip dysplasia
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17362
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This genomic variant is located on Chromosome 12, within the COL2A1 (collagen type II alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Avascular necrosis of femoral head, primary, 1
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17363
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A variant was discovered in gene COL2A1 (collagen type II alpha 1 chain), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Spondyloperipheral dysplasia
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17364
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The gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Stickler syndrome type 1
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17365
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The following genetic variant occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Platyspondylic dysplasia, Torrance type
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17366
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This is a variant in COL2A1 (collagen type II alpha 1 chain), located on Chromosome 12. Is this mutation a likely cause of disease or not?
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Pathogenic; Vitreoretinopathy with phalangeal epiphyseal dysplasia
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17367
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The variant affects gene COL2A1 (collagen type II alpha 1 chain), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Multiple epiphyseal dysplasia, Beighton type
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17368
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With a mutation on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Spondyloepimetaphyseal dysplasia, Strudwick type
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17369
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This is a variant in COL2A1 (collagen type II alpha 1 chain), located on Chromosome 12. Is this mutation a likely cause of disease or not?
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17370
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Given this context: Chromosome 12, gene COL2A1 (collagen type II alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Spondyloepiphyseal dysplasia with metatarsal shortening
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17371
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This variant lies on Chromosome 12 and affects the gene COL2A1 (collagen type II 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; Stickler syndrome, type I, nonsyndromic ocular
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17372
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This alteration occurs within gene COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. Is it associated with a disease or is it a benign variant?
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Pathogenic; Legg-Calve-Perthes disease
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17373
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The gene COL2A1 (collagen type II alpha 1 chain), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Kniest dysplasia
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17374
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Consider a variant on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain). Determine its clinical classification and disease relevance.
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Pathogenic; Spondyloepiphyseal dysplasia, Stanescu type
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17375
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Here is a mutation in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Spondyloepimetaphyseal dysplasia, Strudwick type
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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CAGGAGGACCCTGCAGCAGGAAACAGAGAGATCAGCCAGGATTGTGTGAAAGTGCCCCTCCATGTCCATCCCCATTTGCTAGAATGTACTAGAGTGTCCCTCTTCCCAGCCCCATGGGTGGGGCGGAGGTGTAGCAGGCGAGGACCAAGGAAACCACAGCACCATGTCTATTTCTTCCTTAGCCCTTCTCTTCAGTTTCCCAGCACTGATCATGGGCCCTGTGACCTCTGAGGAGACCTCAGGATAAAGGATGCCATCACTGTTAGCTGCAGGCTGATGCCCTAAAAGAGGCCCTGAGCAAAAAAGAGCTCAAGCCTCCCGGATGGTAGGGACACCTCGACAGCAGGGAAGGAGTCAGGACACTTACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACTGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGG
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Task1_train_17376
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This sequence variant lies in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Absent vertebral body mineralization
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ACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCC
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ACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCAACCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCC
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Task1_train_17377
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Gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Short ribs
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ACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCC
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ACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCAACCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCC
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Task1_train_17378
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Mutation context: Chromosome 12, Gene COL2A1 (collagen type II alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Achondrogenesis type II
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ACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCC
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ACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCAACCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCC
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Task1_train_17379
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The variant affects gene COL2A1 (collagen type II alpha 1 chain), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Spondyloperipheral dysplasia
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17380
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Gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17381
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Consider a variant on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain). Determine its clinical classification and disease relevance.
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Pathogenic; Spondyloepiphyseal dysplasia, Stanescu type
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17382
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A variant was discovered in gene COL2A1 (collagen type II alpha 1 chain), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Spondyloperipheral dysplasia
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17383
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A variant on Chromosome 12 in gene COL2A1 (collagen type II 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; Spondyloepiphyseal dysplasia with metatarsal shortening
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17384
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This sequence variant lies in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Multiple epiphyseal dysplasia, Beighton type
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17385
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Here is a genetic alteration in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Achondrogenesis type II
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17386
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This sequence variant lies in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Spondyloepiphyseal dysplasia, Stanescu type
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17387
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A sequence alteration has been identified in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it disease-inducing or harmless?
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Pathogenic; Avascular necrosis of femoral head, primary, 1
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17388
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A variant affecting Chromosome 12, within the gene COL2A1 (collagen type II alpha 1 chain), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Platyspondylic dysplasia, Torrance type
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17389
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Located on Chromosome 12, this mutation impacts COL2A1 (collagen type II 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; Stickler syndrome type 1
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17390
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A mutation found in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Spondyloperipheral dysplasia
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17391
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Here’s a variant in COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Kniest dysplasia
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17392
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This sequence change occurs on Chromosome 12, altering COL2A1 (collagen type II alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Legg-Calve-Perthes disease
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17393
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A change on Chromosome 12 affects gene COL2A1 (collagen type II alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Stickler syndrome, type I, nonsyndromic ocular
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17394
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Consider this mutation in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is this a benign change or a disease-causing variant?
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Pathogenic; Spondylometaphyseal dysplasia
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17395
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Consider a variant on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain). Determine its clinical classification and disease relevance.
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Pathogenic; Spondyloepiphyseal dysplasia congenita
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17396
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With a mutation on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Namaqualand hip dysplasia
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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GTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACATTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTC
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Task1_train_17397
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The gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Achondrogenesis type II
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CGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCAC
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CGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCTTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCAC
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Task1_train_17398
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This mutation occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Achondrogenesis type II
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GGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAA
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GGCCTCAGGCGCTTTTCTGGCCATAGGCACATGAGCCAGTCCTGCCCCCATTACTGAGTGAGGACCCCTGAGCCCACAGCTTCCCCAGAAGCAGCAGCATTTCCCTCCCCATGGGAACACAGGCCCACACTCTCTGAAGGGCCCCCTCCATCTTCCAACTCCATGTCACTTACTCTAGGGCCAGAAGGACCAGCAGGACCAGAAGCACCTTGGTCTCCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACTTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAA
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Task1_train_17399
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Given this variant in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; not provided
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CCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACCGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCC
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CCAGAAGGACCCTGTGTAGAAGGAAGAGGCAAAAGGCCACGGTCAGCACAGACATATCTATCTATATTCTGGGAGCTGGGGGAACAGCTTTATGTCCCAGCCCCATTCCCTTTCCACTTCCTCCTCCCTCCAGCCCTGAGGAAATCCTAGAAACTGCTTAGGGTGATCCCAAGCTGTCCTGGCAGCACAGGGAGCTCAAGTGGGCTCTGTGTGGCAGGAGGCCTCGGGAAGTCCCACGCAGGCAGTGACACTCACAGGAGGGCCGGGCAGACCCTGCAGACCAGTGAAGCCACGGTGTCCCTTCAGGCCTCTCTCGCCAGGCTCTCCAGCCTCTCCTTTGTCACCTCTGGGGCCTTGAGGACCCTGGGAACAAGACAGACACCGATTGAGTCAGGTCAGGGCCAGGACAGGAGCCCCCTCCTGTCCCACCCAAGCTGAGGAATCCCCGGAAACACAGGGCTGGAGGCCCAGGAACCACCTGGAGGCTGGCTGCCCTCCCAGCCTATCCCTGGTGGGGACTCAGTGCAGGACACTTGGATACTCACCTGGATTCCCCGGGCTCCAGCTGGTCCTGAGGGTCCCATGGGGCCTTGTGCACCCTGAGGAGAGAGTGAGCGCAGCGTCAGAGAAAAGCCAGGACAGGTGGGGGCCTCCTCTGCATCTGAGGCCACTGCTCCTTAGTCCAGAGACTGCGGAAACCCAGGGACTGCCTCAGCCCCACCGCGCAGGGGAAGGCGGCTTTTACTGAATTCAGGATACTTACAGCTTCTCCTCTGTCTCCTTGCTTGCCAGTTGGACCAGCGGGGCCAGGGGAGCCAGGGGGCCCAGGGGCTCCAGGAGCTCCCACAGCACCAGTCTCACCACGATCACCCTGTCAGGAGAGAGGTCTCAGGCTCAGAGAAGAATGTTCCAGAAGAGACAGGAACAGAAGGTCCTTCTAGGCTGAGATGAGACTTGTTCCAACCTGCCACCCCCAGCTGACCTGTCAGGCCCGAGGCAATGTCCTCCCCAACCCACTGCACACACAGACACCAGACACTCACCTTGACTCCAGCAGCGCCATCTCTGCCAGGGGGGCCATCAGCACCGGGGCTTCCCTGGACAAAGTGAAACAAGAATGCACTTAGAGCTGCTTCCTGCCCATCTCCCCCTCTGCTCCCCCAGCCCCTCTCAGAAGCCCAGGCCTCTCCTCTTCTGCCCAACTCACTCACACTTTGAAGCCAAAGTTTCCTCACCAAGTTTCCCTCCTCCTTCCGGAAGCAGCCCTTGGTCTCTATGCCCGTCTCTCTCCCCGACAACCTTCCCATTGTACCTAGGCTTTCAGGCCTGTCGGCCGACACTGCCACCCCCTTCTCCAGGGCCCTGACTGGGACTTGTCCTTGCTGACCCAGCACAGAGACTCACAGGGCCCCTCTCCCCAATCAGGGCCACCCCAGGGGGTCTCACTGCTCACCTCTCGTCCAGGTTCACCTGCAGGACCCGTCAGGCCAGGAGGACCCACGGGGCCAGGAGGACCTCTGTCTCCAGATGCTCCAGGAGCACCCTGCTTGCCGGGCTCACCCTGGAGGGACAGAGACAAGGATGATGAGTGCAAGTGGTAAGCACCCCTGCCCAGGGCCCACTGACCCTTCAGGGAGAGGGCAGACAAGGGACAGTCCTGAGGGTGCTGAGGGAGGTAGAAGCCTTGGCAGGCAGGGCCCAGCTTGGATGGAGGGAGGGATACCCCACACTCACCGACGGGCCAGGCAAGCCAGGGAATCCTCTCTCACCACGTTGCCCAGGCAGACCGACGATGCCTCTCTGACCAGCCAGACCCTGGGGACCTGGTGGACCTTCGGCACCCTGAGAGAGGAGAGGCAGGAGATGAGAACTGACAGTGGCCCAGCCTCTTCTGTCCTCTCAGCACAGCTCTGTCTGTGCAGCCCCGCTCCCTGGCATCCCCACGGCCCCTGCTCCCTCCTACCCCATGCTCTGTGAGCTCAGAAGCCACTCACGACCCTGCTCCCAGGGACCTTGGCATGGGCCTGGTGAGGGACTTACAGAGGGACTGTCATCTCCAGGCTCTCCCTTCTCGCCAGGGGGTCCAGCAGGACCTTGGAGGCCGGGTTCACCAGCTCGGCCAGGGGGGCCGCTGTCTCCTCGAGCACCTTTGGGACCATCTTTTCCAGAAGGACCAGGGGGACCAGGGGGTCCAGGGTTGCCCTAGAAGGAGAAAATGCGGGAAGTGAGGACTCATCTCACCCTTCCTCATCCAGGCTGCCAAAGTCACTGTGGCCTCAGTGACAGCAGTTTCCTCTCTGGGGGCTTCTCTACCTCCCCACACTAAGGGCAGGCAGCTTAACCCCCCCAACCCCAATCTACCGCTGCAACCTTCTCACCATGTGAGACAGCTCTGGGCAGACAGCCCCAACTTCTCCAGCTCCTGCTTGCTTTGCTTTCTCCCATCTACCTGGAATCTCTCCTCCCTCCTCCCTTTGTCCTCAATCCCCCTTCCTCAGGAGCCGCTCCAGCCCTGCCCCTCTGACCCCTGAGCTTGCCCCCAGCACTCTCTCCCTCTGCCTATGGCGCTGGTGAACCCAGTGAGTTCATCACCACTGCTCCCTCCATGCAAACTCCCTGAGAGCGACCCAGGACATGCGGACTTGCTTTAAAGCACACAGACAAGTGCACAGAACATGCTCAAGAAACATCTGTCCAGGATGAAGGTAATCATGGCAGCCCTGTCCTGCCCACCAAGCCAGCAGGGCAGCCACCCATTGCTGACAGCAGGGCCACAACCCTGCCCCCAGCCACCCTCAGGGGATAGGTCCCCATGATCAGTTAGCTACTCCTCCAGGGGGCAGGAACGGACTCAGAGGAGTGAAGGCCAGCCTGGAGCTCTCCAGACCCTGTTGGGTGCTGGGCCAGGCTATTCCATGCCTGCCTGTGCCTCTCATGCCAGGAGCATCACTTACATTGGAGCCTGGGGGTCCAACGCGGCCAGCAGCTCCAGGGAATCCAGTGGCTCCCTGTGTGGGGAGAGGAGAGCCCCTGAGAACCTCAAGCCCTCAGGAGGTTTGAGATTAAAATGGGCGGGGGGCGGGGGTGGTCTCAGAGCCTGGTATGGAAAGGGCGAGGGACTGCAAAGCAGCAAGGGGGATCCAGGGAGGGAGAAAGGGCCCCCGGGTCTGGTCATAGAAGCAGGCACAGGCTGTTTCCCTGCCTCCGGTTTCCACAGTCAGCACTTCAGGGAGCTGAACGAGGGACAAGCCTCGGGCTGGGGAATCCGGGACCACAGTGCACCCAGCCCACAGGCGCCCTCTCTCCCACCTGGCTGTGGGTGGGCTTAGGCTGGGGACCAACGCAGGGCTGGGAAAACAGTCGGGGGCATCCCAGAACACCCCCGCCATGGGAGCCTCTGGGGCCAGGCCTCTTTGTGAGGTGCAGGGTGGGGTGTCAGAGGCCTCACTCACCGGGGGGCCTTGGGCACCTCGGGCTCCTTTAGGACCAGTCACTCCAGTAGGACCCTGGAAAGGAAAGAGGGAGACAGTGAGGCCCAGTGGCCCAAGGAAGACGGTGGGCTTCTGTCTGAGCCCCAACAATGGACCCCTGAGGTTTTCGAAGATGCAGCTTTCTTGGCACTAAAAACCCAGCCTGAAGAGGCTGCCACAGGCAGCTCTGTCCCCTCTGCCACAGGAGACTTGTGTTCTAGGAGAAGCCTGTCAGGCAACCACAGAACCGGTCTGGGGTCTGGCCTCCCGGGAAGCTCTTCCTGCCACCGCCCCCTCCTCCCCAGGAGATCAGCAGCTTGGTTCTGGCTGGCTGTGGCCAGCCTGTACTCTGTCAGTCCCTACACCCCACCCACACAGCCCACATGCCACATGGAAGCTCCTTCTACCAACATGGGGGTGTTCCCAGGCCTGCGAACCATCCTCTGCGCAGCCTGCTGGGGCCTTCCCATCTGCACGCCAGGAGCCCTTCCTTGAGGGAACAATTCTTGGAGTGCAGCGTTACCCACCTGAGGCCCAGGTGCTCCAGAGGGGCCCTGAGGACCAGGGGCACCAGCATCGCCTTTCTGGCCGGCCTCTCCTTGCTCACCCTTGGCCCCAGGCTGGCC
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Subsets and Splits
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