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_15600
|
A genomic change on Chromosome 11 affects RAG1 (recombination activating 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Combined immunodeficiency with skin granulomas
|
TTTGAGATAGGTGGATGGGATGATGGATTGAAAATACAGCTGCTCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTT
|
TTTGAGATAGGTGGATGGGATGATGGATTGAAAATACAGCTGCTCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCTGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTT
|
Task1_train_15601
|
A genetic alteration is present in RAG1 (recombination activating 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
|
TTTGAGATAGGTGGATGGGATGATGGATTGAAAATACAGCTGCTCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTT
|
TTTGAGATAGGTGGATGGGATGATGGATTGAAAATACAGCTGCTCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCTGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTT
|
Task1_train_15602
|
This variant affects the gene RAG1 (recombination activating 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAAT
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TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTATCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAAT
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Task1_train_15603
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The following genetic variant occurs in RAG1 (recombination activating 1) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAAT
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TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTATCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAAT
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Task1_train_15604
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This variant impacts the gene RAG1 (recombination activating 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Histiocytic medullary reticulosis
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TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAAT
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TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTATCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAAT
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Task1_train_15605
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This sequence change occurs on Chromosome 11, altering RAG1 (recombination activating 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Combined immunodeficiency with skin granulomas
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TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAAT
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TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTATCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAAT
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Task1_train_15606
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A mutation on Chromosome 11 affecting RAG1 (recombination activating 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAAT
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TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTATCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAAT
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Task1_train_15607
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A genetic alteration is present in RAG1 (recombination activating 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Combined immunodeficiency with skin granulomas
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TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAAT
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TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTATCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAAT
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Task1_train_15608
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A sequence alteration has been identified in RAG1 (recombination activating 1) on Chromosome 11. Is it disease-inducing or harmless?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAAT
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TCTCTTTCCAATCATGTACTAAGTAATTTGGGAAAGATTGATCTAATTGGGTCTAGAGAGTACACTTCACATGGCATTGTTTGACTTTTTTTCTGCATCGCTAGCGATCTGTGCATTACAACTCAAATCAGTCGGGTTTCCTGGCATATGTAATTGCCAATGTTTTTTACCAGAAGAGAAACATTACTCCCACCTCTTCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTATCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAAT
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Task1_train_15609
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The variant affects gene RAG1 (recombination activating 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGG
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TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCTGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGG
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Task1_train_15610
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A variant has been detected on Chromosome 11 in RAG1 (recombination activating 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGG
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TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCTGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGG
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Task1_train_15611
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The gene RAG1 (recombination activating 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Histiocytic medullary reticulosis
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TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGG
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TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCTGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGG
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Task1_train_15612
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This gene mutation involves RAG1 (recombination activating 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGG
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TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCTGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGG
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Task1_train_15613
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The variant affects gene RAG1 (recombination activating 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Combined immunodeficiency with skin granulomas
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TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGG
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TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCTGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGG
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Task1_train_15614
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This variant lies on Chromosome 11 and affects the gene RAG1 (recombination activating 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGG
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TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCTGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGG
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Task1_train_15615
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A variant found in Chromosome 11 affects RAG1 (recombination activating 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGG
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TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCTGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGG
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Task1_train_15616
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Gene RAG1 (recombination activating 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Combined immunodeficiency with skin granulomas
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TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGG
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TCTTATTATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCTGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGG
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Task1_train_15617
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A mutation in RAG1 (recombination activating 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Histiocytic medullary reticulosis
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TATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCA
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TATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCTGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCA
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Task1_train_15618
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Here is a genetic alteration in RAG1 (recombination activating 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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TATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCA
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TATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCTGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCA
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Task1_train_15619
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This variant lies on Chromosome 11 and affects the gene RAG1 (recombination activating 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Combined immunodeficiency with skin granulomas
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TATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCA
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TATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCTGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCA
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Task1_train_15620
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A genetic alteration is present in RAG1 (recombination activating 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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TATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCA
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TATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCTGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCA
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Task1_train_15621
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A variant has been detected on Chromosome 11 in RAG1 (recombination activating 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Histiocytic medullary reticulosis
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ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCAC
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ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCACCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCAC
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Task1_train_15622
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This genomic variant is located on Chromosome 11, within the RAG1 (recombination activating 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCAC
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ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCACCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCAC
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Task1_train_15623
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A genetic alteration is present in RAG1 (recombination activating 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Combined immunodeficiency with skin granulomas
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ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCAC
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ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCACCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCAC
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Task1_train_15624
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This gene mutation involves RAG1 (recombination activating 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCAC
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ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCACCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCAC
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Task1_train_15625
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A change on Chromosome 11 affects gene RAG1 (recombination activating 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCAC
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ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCACCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCAC
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Task1_train_15626
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Consider a variant on Chromosome 11 in gene RAG1 (recombination activating 1). Determine its clinical classification and disease relevance.
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Pathogenic; Histiocytic medullary reticulosis
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ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCAC
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ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCACCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCAC
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Task1_train_15627
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Here’s a variant in RAG1 (recombination activating 1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Combined immunodeficiency with skin granulomas
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ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCAC
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ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCACCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCAC
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Task1_train_15628
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Consider a variant on Chromosome 11 in gene RAG1 (recombination activating 1). Determine its clinical classification and disease relevance.
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCAC
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ATGTTACAAACTATAGTGCTAATGACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCACCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCAC
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Task1_train_15629
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The gene RAG1 (recombination activating 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAG
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ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCAGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAG
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Task1_train_15630
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A mutation on Chromosome 11 affecting RAG1 (recombination activating 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAG
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ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCAGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAG
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Task1_train_15631
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Chromosome 11 houses a mutation in gene RAG1 (recombination activating 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Combined immunodeficiency with skin granulomas
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ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAG
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ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCAGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAG
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Task1_train_15632
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Located on Chromosome 11, this mutation impacts RAG1 (recombination activating 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAG
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ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCAGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAG
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Task1_train_15633
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A genomic change on Chromosome 11 affects RAG1 (recombination activating 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Histiocytic medullary reticulosis
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ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAG
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ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCAGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAG
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Task1_train_15634
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The gene RAG1 (recombination activating 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAG
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ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCAGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAG
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Task1_train_15635
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This gene mutation involves RAG1 (recombination activating 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Combined immunodeficiency with skin granulomas
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ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAG
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ACCATCGACCAACAGTGACTTTCAGGATGACCTGTGTGAGTTTTATCTGAAACCATGTGAATTTTTCATCTTAAAAGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCAGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAG
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Task1_train_15636
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The gene RAG1 (recombination activating 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Histiocytic medullary reticulosis
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AGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCG
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AGTCCCTTAGAATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGGTGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCG
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Task1_train_15637
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A genetic alteration is present in RAG1 (recombination activating 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Severe combined immunodeficiency disease
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ATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAG
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ATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCATGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAG
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Task1_train_15638
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This mutation is located in gene RAG1 (recombination activating 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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ATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAG
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ATCTCAGTCTATGTACACTCAGGTTTGTTGCAGGTTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCATGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAG
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Task1_train_15639
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This sequence change occurs on Chromosome 11, altering RAG1 (recombination activating 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Recombinase activating gene 1 deficiency
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TTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAG
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TTTAGAGTTCCGTGTTTTTTGTTTCTAATGTAGACACAGCCTTATAATTTACAACAGCATTCACTAATTAAAATTGTAAGCATAATTACTATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGTGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAG
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Task1_train_15640
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This mutation is located in gene RAG1 (recombination activating 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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TATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAG
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TATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCTGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAG
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Task1_train_15641
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The variant affects gene RAG1 (recombination activating 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Combined immunodeficiency with skin granulomas
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TATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAG
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TATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCTGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAG
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Task1_train_15642
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The following genetic variant occurs in RAG1 (recombination activating 1) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Combined immunodeficiency with skin granulomas
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TATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAG
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TATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCTGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAG
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Task1_train_15643
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Given this context: Chromosome 11, gene RAG1 (recombination activating 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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TATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAG
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TATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCTGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAG
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Task1_train_15644
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A variant found in Chromosome 11 affects RAG1 (recombination activating 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Histiocytic medullary reticulosis
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCATGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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Task1_train_15645
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A variant affecting Chromosome 11, within the gene RAG1 (recombination activating 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Combined immunodeficiency with skin granulomas
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCATGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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Task1_train_15646
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This mutation is located in gene RAG1 (recombination activating 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCATGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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Task1_train_15647
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This is a variant in RAG1 (recombination activating 1), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; Combined immunodeficiency with skin granulomas
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCATGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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Task1_train_15648
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This mutation is located in gene RAG1 (recombination activating 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Histiocytic medullary reticulosis
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCATGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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Task1_train_15649
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This variant affects the gene RAG1 (recombination activating 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCATGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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Task1_train_15650
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Here’s a variant in RAG1 (recombination activating 1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCATGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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Task1_train_15651
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Gene RAG1 (recombination activating 1) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCATGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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Task1_train_15652
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Mutation context: Chromosome 11, Gene RAG1 (recombination activating 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Severe combined immunodeficiency disease
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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ATCCACGATACTTATTATTAGTTTGCATTCATAAAGCTCAAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCATGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGA
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Task1_train_15653
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Consider this mutation in RAG1 (recombination activating 1) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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AAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTT
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AAAATTCACTTCATCCTTTCAAGTAGTGAATAATTAGTTTCTTTGGGTTTGCAGCTTTATCATCCTTTTATGACCCATTTGGAAGAAATAAACAACCAACCCCCTGGAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGAGGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTT
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Task1_train_15654
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This mutation is located in gene RAG1 (recombination activating 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Combined immunodeficiency with skin granulomas
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GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTG
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GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGTCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTG
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Task1_train_15655
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This variant affects gene RAG1 (recombination activating 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTG
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GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGTCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTG
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Task1_train_15656
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Here is a genetic alteration in RAG1 (recombination activating 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Combined immunodeficiency with skin granulomas
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GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTG
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GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGTCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTG
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Task1_train_15657
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A variant was discovered on Chromosome 11, affecting RAG1 (recombination activating 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTG
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GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGTCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTG
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Task1_train_15658
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Mutation context: Chromosome 11, Gene RAG1 (recombination activating 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTG
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GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGTCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTG
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Task1_train_15659
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A mutation on Chromosome 11 affecting RAG1 (recombination activating 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Histiocytic medullary reticulosis
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GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTG
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GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGTCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTG
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Task1_train_15660
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Given a variant located on Chromosome 11 and affecting RAG1 (recombination activating 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTG
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GAAGACTGCTTTAAAAAGCTGGAAATACATTGTCCAGCTAGTACAATGAGGCTAATACAATGTGGAAAATATTACTTTTCTTTGATTTTAGTAGCCTGTTTATCTTTACATTTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGTCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTG
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Task1_train_15661
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Given a variant located on Chromosome 11 and affecting RAG1 (recombination activating 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Combined immunodeficiency with skin granulomas
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TTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTA
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TTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGTTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTA
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Task1_train_15662
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A sequence alteration has been identified in RAG1 (recombination activating 1) on Chromosome 11. Is it disease-inducing or harmless?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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TTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTA
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TTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGTTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTA
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Task1_train_15663
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Gene RAG1 (recombination activating 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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TTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTA
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TTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGTTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTA
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Task1_train_15664
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A mutation in RAG1 (recombination activating 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Severe combined immunodeficiency disease
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TTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTA
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TTACTGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGTTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTA
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Task1_train_15665
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Gene RAG1 (recombination activating 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATA
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TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCTGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATA
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Task1_train_15666
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Consider this mutation in RAG1 (recombination activating 1) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Combined immunodeficiency with skin granulomas
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TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATA
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TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCTGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATA
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Task1_train_15667
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A variant on Chromosome 11 in gene RAG1 (recombination activating 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATA
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TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCTGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATA
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Task1_train_15668
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Chromosome 11 houses a mutation in gene RAG1 (recombination activating 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATA
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TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCTGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATA
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Task1_train_15669
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Given a variant located on Chromosome 11 and affecting RAG1 (recombination activating 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Severe combined immunodeficiency disease
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TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATA
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TGAACAAATAACTATTGAGCACCTAATGTATACTGGGACCCTTGGGGAGGCAAAGATGAATCAAAGATTCTGTCCTTAAAGACCTTAAGGTTTTTGTGGAAGGAAATAAAACTTTACATGTATATATTTAAGCACTTATATGTGTGTAACAGGTATAAGTAACCATAAACACTGTCAGAAGAGGAAATAACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCTGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATA
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Task1_train_15670
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Gene RAG1 (recombination activating 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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ACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCA
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ACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCTGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCA
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Task1_train_15671
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This is a variant in RAG1 (recombination activating 1), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; Combined immunodeficiency with skin granulomas
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ACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCA
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ACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCTGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCA
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Task1_train_15672
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Gene RAG1 (recombination activating 1) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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ACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCA
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ACTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCTGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCA
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Task1_train_15673
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Given this context: Chromosome 11, gene RAG1 (recombination activating 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Combined immunodeficiency with skin granulomas
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CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAG
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CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCATTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAG
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Task1_train_15674
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Assess the clinical impact of this variant on gene RAG1 (recombination activating 1), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAG
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CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCATTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAG
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Task1_train_15675
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Mutation context: Chromosome 11, Gene RAG1 (recombination activating 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Combined immunodeficiency with skin granulomas
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CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAG
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CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCATTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAG
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Task1_train_15676
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A variant was discovered in gene RAG1 (recombination activating 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Histiocytic medullary reticulosis
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CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAG
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CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCATTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAG
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Task1_train_15677
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With a mutation on Chromosome 11 in gene RAG1 (recombination activating 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAG
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CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCATTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAG
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Task1_train_15678
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Consider a variant on Chromosome 11 in gene RAG1 (recombination activating 1). Determine its clinical classification and disease relevance.
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAG
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CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCATTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAG
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Task1_train_15679
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This sequence change occurs on Chromosome 11, altering RAG1 (recombination activating 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAG
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CTCTATGATCAGCACCTAACATGATATATTAAGGTAGAAGATTTAATACATATCTTTTGGAATACATGAATAAATAATTGAATGTATTTATTTTTATTATTTATAAGATACATCAGTGGGATATTGATATTGGTCTTAATATGACTTGTTTTCATTGTTCTCAGGTACCTCAGCCAGCATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCACCCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCATTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAG
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Task1_train_15680
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A variant was discovered on Chromosome 11, affecting RAG1 (recombination activating 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATT
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TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGTGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATT
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Task1_train_15681
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Given a variant located on Chromosome 11 and affecting RAG1 (recombination activating 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Combined immunodeficiency with skin granulomas
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TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATT
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TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGTGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATT
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Task1_train_15682
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A change on Chromosome 11 affects gene RAG1 (recombination activating 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Histiocytic medullary reticulosis
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TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATT
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TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGTGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATT
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Task1_train_15683
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The gene RAG1 (recombination activating 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATT
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TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGTGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATT
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Task1_train_15684
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Gene RAG1 (recombination activating 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATT
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TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGTGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATT
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Task1_train_15685
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A mutation in RAG1 (recombination activating 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Combined immunodeficiency with skin granulomas
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TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATT
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TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGTGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATT
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Task1_train_15686
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Located on Chromosome 11, this mutation impacts RAG1 (recombination activating 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATT
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TCCGGGTGAGATCCTTTGAAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGTGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATT
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Task1_train_15687
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This genomic variant is located on Chromosome 11, within the RAG1 (recombination activating 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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AAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGA
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AAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCAAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGA
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Task1_train_15688
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Gene RAG1 (recombination activating 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Combined immunodeficiency with skin granulomas
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AAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGA
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AAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCAAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGA
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Task1_train_15689
|
This mutation is located in gene RAG1 (recombination activating 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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AAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGA
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AAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCAAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGA
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Task1_train_15690
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Here is a genetic alteration in RAG1 (recombination activating 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Severe combined immunodeficiency disease
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AAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGA
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AAAAGACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAGCAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTGTTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCAAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGA
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Task1_train_15691
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This sequence variant lies in RAG1 (recombination activating 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTG
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ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGTGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTG
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Task1_train_15692
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A variant affecting Chromosome 11, within the gene RAG1 (recombination activating 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Severe combined immunodeficiency disease
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ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTG
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ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGTGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTG
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Task1_train_15693
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Given this variant in gene RAG1 (recombination activating 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Combined immunodeficiency with skin granulomas
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ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTG
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ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGTGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTG
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Task1_train_15694
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Gene RAG1 (recombination activating 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTG
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ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGTGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTG
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Task1_train_15695
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A variant was discovered on Chromosome 11, affecting RAG1 (recombination activating 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Combined immunodeficiency due to partial RAG1 deficiency
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ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTG
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ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGTGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTG
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Task1_train_15696
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The variant affects gene RAG1 (recombination activating 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Histiocytic medullary reticulosis
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ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTG
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ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGTGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTG
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Task1_train_15697
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Located on Chromosome 11, this mutation impacts RAG1 (recombination activating 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Combined immunodeficiency with skin granulomas
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ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTG
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ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGTGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTG
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Task1_train_15698
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A variant was discovered on Chromosome 11, affecting RAG1 (recombination activating 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTG
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ACAACGAGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGTGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTG
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Task1_train_15699
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A genomic change on Chromosome 11 affects RAG1 (recombination activating 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Combined immunodeficiency with skin granulomas
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AGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGG
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AGAAAGCAAGAGGCAAAGCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCTGATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTTTTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGGATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGGAGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTGACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGACTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTTGACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAGGATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCAGTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTGGCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGCCTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTGGAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCAAAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAGGAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTGTCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCCTTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGAAAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGCTGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTTCAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTTGAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGGCTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTCCGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGCATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAGTCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAAAAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAATGTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTTATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCTGAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACTTTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGCCTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCCTCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTATGAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATTGGGTGAAAGGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGACATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAGAATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTCCGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTCATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAGGCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGCCCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCTGAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCACAAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCAAGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGGCAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAATACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAACCCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCAATGGAATTTTAAGTAGGGCAACCACTTATGAGTTGGTTTTTGCAATTGAGTTTCCCTCTGGGTTGCATTGAGGGCTTCTCCTAGCACCCTTTACTGCTGTGTATGGGGCTTCACCATCCAAGAGGTGGTAGGTTGGAGTAAGATGCTACAGATGCTCTCAAGTCAGGAATAGAAACTGATGAGCTGATTGCTTGAGGCTTTTAGTGAGTTCCGAAAAGCAACAGGAAAAATCAGTTATCTGAAAGCTCAGTAACTCAGAACAGGAGTAACTGCAGGGGACCAGAGATGAGCAAAGATCTGTGTGTGTTGGGGAGCTGTCATGTAAATCAAAGCCAAGGTTGTCAAAGAACAGCCAGTGAGGCCAGGAAAGAAATTGGTCTTGTGGTTTTCATTTTTTTCCCCCTTGATTGATTATATTTTGTATTGAGATATGATAAGTGCCTTCTATTTCATTTTTGAATAATTCTTCATTTTTATAATTTTACATATCTTGGCTTGCTATATAAGATTCAAAAGAGCTTTTTAAATTTTTCTAATAATATCTTACATTTGTACAGCATGATGACCTTTACAAAGTGCTCTCAATGCATTTACCCATTCGTTATATAAATATGTTACATCAGGACAACTTTGAGAAAATCAGTCCTTTTTTATGTTTAAATTATGTATCTATTGTAACCTTCAGAGTTTAGGAGGTCATCTGCTGTCATGGATTTTTCAATAATGAATTTAGAATACACCTGTTAGCTACAGTTAGTTATTAAATCTTCTGATAATATATGTTTACTTAGCTATCAGAAGCCAAGTATGATTCTTTATTTTTACTTTTTCATTTCAAGAAATTTAGAGTTTCCAAATTTAGAGCTTCTGCATACAGTCTTAAAGCCACAGAGGCTTGTAAAAATATAGGTTAGCTTGATGTCTAAAAATATATTTCATGTCTTACTGAAACATTTTGCCAGACTTTCTCCAAATGAAACCTGAATCAATTTTTCTAAATCTAGGTTTCATAGAGTCCTCTCCTCTGCAATGTGTTATTCTTTCTATAATGATCAGTTTACTTTCAGTGGATTCAGAATTGTGTAGCAGGATAACCTTGTATTTTTCCATCCGCTAAGTTTAGATGGAGTCCAAACGCAGTACAGCAGAAGAGTTAACATTTACACAGTGCTTTTTACCACTGTGGAATGTTTTCACACTCATTTTTCCTTACAACAATTCTGAGGAGTAGGTGTTGTTATTATCTCCATTTGATGGGG
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Subsets and Splits
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