BioReason
Collection
BioReason: Incentivizing Multimodal Biological Reasoning within a DNA-LLM Model
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3 items
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Updated
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17
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_0
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The variant affects gene PERM1 (PPARGC1 and ESRR induced regulator, muscle 1), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Renal tubular epithelial cell apoptosis
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TGGAGGCCAGGGGGGCCAGTAGGGAGTTGGGGAGATGGGACTGGGGAGGGAGAGCAGGGGGACATGGGGGGCTGCACAGTGACAGGCCGCCTCCAAGCTCCCTGCCTGGGGCTGTGCCCGGCTCTCAGACTTGCGGTTTGGGGTTCCAGGTCTCCTCTGCCAGGGAAGGTTCGCCCGAACCCTGGCTGCCTCTGACAGGTGAGTAAGGATCCTGCCTCCTGAGGTGAGTGCCTGTTGCCTCCCACAGGCTGACACATCTCTGCCTTCCCTACCAGATGGTCGGTCCCCCAGGAGGAGCCGGGACCCCGGCTACGACCACCTCTGGGACGAGACTTTGTCTTCCTCCCACCAGAAGTGCCCCCAGCTTGGAGGGCCTGAGGCCAGTGGGGGGCTTGTGCAGTGGATCTGATGGCCGCGGTGAGGTGGGTTCTCAGGACCACCCTCGCCAAGCTCCAGGGTACCTGCCCCTCTAACCCACTTCAAATTACAAGTCAGGGTCTGAACCCAGTGTGATGGGGGGAGTCTCTGGGGCCCTGAGTTCAGAGCCCGTCCCTCAGCTCCTGTTCCTTGGTGCCAGCAGCTGGGGCAGGGAAGGGTGGGAGGGGCCCCATCCAAAGGATGCCCTGGCCAGCGAGGCTGGGTCACAGGTCAGGGAGGTCCTGGCCGTCCACAGGGTCGGCCCTCAGCTCAGCCCGCCAGGAGTCAGGGAGGAGACTCGCTGGGAGTGGGAGGGCAGCACGGGCGTGAAGGTCGGAGGACAGAGAAAGGTCAGCAGGGTCAGAGTATGTGAGGTCAGAGGGCATGAGGGTCACAGGTCAGCAAGGTGTGAGGAGCACAAGCCAGGGTGCCCCGAGGAGGAGGGTGGGTGGGTCCTTGTGTGGCCTGGCGCGCACCACAGGGCAGCACGGGAGACGTTGACACCACCGGACGAGAAAGAAAAAAGAGAGAAGAGAGAGAGGAGAAGAGAGAAAAGAAGAGAAGAGAGAAGAGAAGAGAAGGAAAGAGAGAGAGAGAATAAGAAAAGGAAGAAAGAAAAAGAAAAGATAGAATTTTATTGGTGCTGCATCCATGTGTTCTCTGCTCAGCAGCCAGGGTCTCCCACAGTCTTGAGGACCCCCACCCAGCACCCAGCCAGGCAGCCCCCTTCCTCTGCCACCTCGGGCCCCTCACCGACCTTCCCACCTCATCTCTGACTCCTCTTGGCTGTGGGTCCCCAGCTGCCCCACAGGAGCCCCCGGGACAACCCCAGGAGCCCAGCCCTCCATCTGAGGCCACCGAATTCTCCCTCTGCACCTGCACCCAGGGCTCCCGGGGAGGGGCTCGCGGCTCTGCCACAGACCCCCACCCTGCAGGGGCTGCTGCACTGGGGAGGGGCAGGCAGAGCCTTCGCTGTCTCAGGCCAGAGCCCGCAGAGGCCTTGGCCACAGTCCTTTGAGGATCAAGAGTGATGGGCCTTGGAGCCCTTGCCAGCCCAGCCCACCTGTGAGGAGGCTGCCCATCCCCTCTTTGAGGCCACCCTGTGTCCTCTCCCCTGCCTCTGCCCAGAGCTCCAGCCGGAGTGTCTTGCTGCTCAGACCCCTCCGAGGTCCAAGTCCTGTCCTGCCACTCAGCTCCCCCTGCACCCCAGAAGAAACGCAGGGTGCGGTTGCATTTGATTTCAGATAAACAACAACTTCTTAGTAAAATGACCTCCCCACTATTGCCTGTCTGAAATTAACCGAATGCCCTGTGTTCTCATCTGTGAATCTGGCCACCCTCCTACCCAGCCACCTGCCTGCCCTCCACCCACCCAGACTTTAGCACCTCCCTCCCAGGCGTGGGGAGTGGCCGTGGTCACTGGCTGGATCCTCAGGTGAGTCGGAGGGAGCAGCACCAGGACACGCCCCCCTCCTGGACGCGGTAGAAGAGAGGGGTCAGAGGGCCCGGGCGAGGGCGGCACCTCGTCCTGCCCTGGGCGCCTGTGGTCGTCTCCTCATCCTGCATCTCCCTGGCCCGGGCCTGGCTCCTAGGAGCTGGGGCTGGGGCTGTGGCTGCGGCGCCCTTGCCCCACCTGCCGGCGGAAGTAGCGGATGGCAGAGATGGTGCCGACGTTGGCCAGCAAGGCTGCAAGAGAAGCACAGGCTCTTCTGAGGGCCAGCCTGGCTGTCGGCACCGTCTGCCCGCAAGACCCAGCCCTCAAAGGGCGGGCAAGGTCGGTGCGGCCAGGGCCGCAGCTCAGCCTGGGGGGAGCAGGTCAGGGGTGAGCCCCGGGGCCCCCGTGCACCCCTCGTCCTGCCAGCGCCCCTCGGTCTGGCTTCTAGGCGCAGCTCCCTCTGCCCCCAGGCACCCAAACCTGTTTTCCAGGCGTCTGGGGTATGCGGATCTGACGTCCTCACAGCCCAGGTGGCAAAAGCTACAAACACCAGGCACATGTCATTCTGGCTGAAGGCAAATGATGGGACAGGCCCCCGGAGCTCCCCTAGGACAGAAGCTCACCTTCAGCCCCACGGCTGCACTCAGAGATGGCCCCGCACACGCCCGCCCCGGGAACCGCCTGCCCCCACCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCACCCCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCAGGAACCGCCTCCCAACCCCCCCCAACCCCAGGAACCGCCTCCCAACCCCCCCCAACCCCAGGAACTGCCTGCCCCGGGAGCCGCTTCCCCCGCAACCCCGGGAACCACCTGCCCCGCACACGGCCGCCCCGGGAACCGCCTGCCTCCCCCTCCAACCCCAGGAACCGCCTGCCCCACCCTAACCCTGCACACTCTTGGCCTGGGAACTGCCTGCCCCGCACACGCCCGCCCCGGGAACCGCCTGCCCCAGATACATCCAT
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TGGAGGCCAGGGGGGCCAGTAGGGAGTTGGGGAGATGGGACTGGGGAGGGAGAGCAGGGGGACATGGGGGGCTGCACAGTGACAGGCCGCCTCCAAGCTCCCTGCCTGGGGCTGTGCCCGGCTCTCAGACTTGCGGTTTGGGGTTCCAGGTCTCCTCTGCCAGGGAAGGTTCGCCCGAACCCTGGCTGCCTCTGACAGGTGAGTAAGGATCCTGCCTCCTGAGGTGAGTGCCTGTTGCCTCCCACAGGCTGACACATCTCTGCCTTCCCTACCAGATGGTCGGTCCCCCAGGAGGAGCCGGGACCCCGGCTACGACCACCTCTGGGACGAGACTTTGTCTTCCTCCCACCAGAAGTGCCCCCAGCTTGGAGGGCCTGAGGCCAGTGGGGGGCTTGTGCAGTGGATCTGATGGCCGCGGTGAGGTGGGTTCTCAGGACCACCCTCGCCAAGCTCCAGGGTACCTGCCCCTCTAACCCACTTCAAATTACAAGTCAGGGTCTGAACCCAGTGTGATGGGGGGAGTCTCTGGGGCCCTGAGTTCAGAGCCCGTCCCTCAGCTCCTGTTCCTTGGTGCCAGCAGCTGGGGCAGGGAAGGGTGGGAGGGGCCCCATCCAAAGGATGCCCTGGCCAGCGAGGCTGGGTCACAGGTCAGGGAGGTCCTGGCCGTCCACAGGGTCGGCCCTCAGCTCAGCCCGCCAGGAGTCAGGGAGGAGACTCGCTGGGAGTGGGAGGGCAGCACGGGCGTGAAGGTCGGAGGACAGAGAAAGGTCAGCAGGGTCAGAGTATGTGAGGTCAGAGGGCATGAGGGTCACAGGTCAGCAAGGTGTGAGGAGCACAAGCCAGGGTGCCCCGAGGAGGAGGGTGGGTGGGTCCTTGTGTGGCCTGGCGCGCACCACAGGGCAGCACGGGAGACGTTGACACCACCGGACGAGAAAGAAAAAAGAGAGAAGAGAGAGAGGAGAAGAGAGAAAAGAAGAGAAGAGAGAAGAGAAGAGAAGGAAAGAGAGAGAGAGAATAAGAAAAGGAAGAAAGAAAAAGAAAAGATAGAATTTTATTGGTGCTGCATCCATGTGTTCTCTGCTCAGCAGCCAGGGTCTCCCACAGTCTTGAGGACCCCCACCCAGCACCCAGCCAGGCAGCCCCCTTCCTCTGCCACCTCGGGCCCCTCACCGACCTTCCCACCTCATCTCTGACTCCTCTTGGCTGTGGGTCCCCAGCTGCCCCACAGGAGCCCCCGGGACAACCCCAGGAGCCCAGCCCTCCATCTGAGGCCACCGAATTCTCCCTCTGCACCTGCACCCAGGGCTCCCGGGGAGGGGCTCGCGGCTCTGCCACAGACCCCCACCCTGCAGGGGCTGCTGCACTGGGGAGGGGCAGGCAGAGCCTTCGCTGTCTCAGGCCAGAGCCCGCAGAGGCCTTGGCCACAGTCCTTTGAGGATCAAGAGTGATGGGCCTTGGAGCCCTTGCCAGCCCAGCCCACCTGTGAGGAGGCTGCCCATCCCCTCTTTGAGGCCACCCTGTGTCCTCTCCCCTGCCTCTGCCCAGAGCTCCAGCCGGAGTGTCTTGCTGCTCAGACCCCTCCGAGGTCCAAGTCCTGTCCTGCCACTCAGCTCCCCCTGCACCCCAGAAGAAACGCAGGGTGCGGTTGCATTTGATTTCAGATAAACAACAACTTCTTAGTAAAATGACCTCCCCACTATTGCCTGTCTGAAATTAACCGAATGCCCTGTGTTCTCATCTGTGAATCTGGCCACCCTCCTACCCAGCCACCTGCCTGCCCTCCACCCACCCAGACTTTAGCACCTCCCTCCCAGGCGTGGGGAGTGGCCGTGGTCACTGGCTGGATCCTCAGGTGAGTCGGAGGGAGCAGCACCAGGACACGCCCCCCTCCTGGACGCGGTAGAAGAGAGGGGTCAGAGGGCCCGGGCGAGGGCGGCACCTCGTCCTGCCCTGGGCGCCTGTGGTCGTCTCCTCATCCTGCATCTCCCTGGCCCGGGCCTGGCTCCTAGGAGCTGGGGCTGGGGCTGTGGCTGCGGCGCCCTTGCCCCGCCTGCCGGCGGAAGTAGCGGATGGCAGAGATGGTGCCGACGTTGGCCAGCAAGGCTGCAAGAGAAGCACAGGCTCTTCTGAGGGCCAGCCTGGCTGTCGGCACCGTCTGCCCGCAAGACCCAGCCCTCAAAGGGCGGGCAAGGTCGGTGCGGCCAGGGCCGCAGCTCAGCCTGGGGGGAGCAGGTCAGGGGTGAGCCCCGGGGCCCCCGTGCACCCCTCGTCCTGCCAGCGCCCCTCGGTCTGGCTTCTAGGCGCAGCTCCCTCTGCCCCCAGGCACCCAAACCTGTTTTCCAGGCGTCTGGGGTATGCGGATCTGACGTCCTCACAGCCCAGGTGGCAAAAGCTACAAACACCAGGCACATGTCATTCTGGCTGAAGGCAAATGATGGGACAGGCCCCCGGAGCTCCCCTAGGACAGAAGCTCACCTTCAGCCCCACGGCTGCACTCAGAGATGGCCCCGCACACGCCCGCCCCGGGAACCGCCTGCCCCCACCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCACCCCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCAGGAACCGCCTCCCAACCCCCCCCAACCCCAGGAACCGCCTCCCAACCCCCCCCAACCCCAGGAACTGCCTGCCCCGGGAGCCGCTTCCCCCGCAACCCCGGGAACCACCTGCCCCGCACACGGCCGCCCCGGGAACCGCCTGCCTCCCCCTCCAACCCCAGGAACCGCCTGCCCCACCCTAACCCTGCACACTCTTGGCCTGGGAACTGCCTGCCCCGCACACGCCCGCCCCGGGAACCGCCTGCCCCAGATACATCCAT
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Task1_train_1
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This alteration in PERM1 (PPARGC1 and ESRR induced regulator, muscle 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Neutrophil inclusion bodies
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TGGAGGCCAGGGGGGCCAGTAGGGAGTTGGGGAGATGGGACTGGGGAGGGAGAGCAGGGGGACATGGGGGGCTGCACAGTGACAGGCCGCCTCCAAGCTCCCTGCCTGGGGCTGTGCCCGGCTCTCAGACTTGCGGTTTGGGGTTCCAGGTCTCCTCTGCCAGGGAAGGTTCGCCCGAACCCTGGCTGCCTCTGACAGGTGAGTAAGGATCCTGCCTCCTGAGGTGAGTGCCTGTTGCCTCCCACAGGCTGACACATCTCTGCCTTCCCTACCAGATGGTCGGTCCCCCAGGAGGAGCCGGGACCCCGGCTACGACCACCTCTGGGACGAGACTTTGTCTTCCTCCCACCAGAAGTGCCCCCAGCTTGGAGGGCCTGAGGCCAGTGGGGGGCTTGTGCAGTGGATCTGATGGCCGCGGTGAGGTGGGTTCTCAGGACCACCCTCGCCAAGCTCCAGGGTACCTGCCCCTCTAACCCACTTCAAATTACAAGTCAGGGTCTGAACCCAGTGTGATGGGGGGAGTCTCTGGGGCCCTGAGTTCAGAGCCCGTCCCTCAGCTCCTGTTCCTTGGTGCCAGCAGCTGGGGCAGGGAAGGGTGGGAGGGGCCCCATCCAAAGGATGCCCTGGCCAGCGAGGCTGGGTCACAGGTCAGGGAGGTCCTGGCCGTCCACAGGGTCGGCCCTCAGCTCAGCCCGCCAGGAGTCAGGGAGGAGACTCGCTGGGAGTGGGAGGGCAGCACGGGCGTGAAGGTCGGAGGACAGAGAAAGGTCAGCAGGGTCAGAGTATGTGAGGTCAGAGGGCATGAGGGTCACAGGTCAGCAAGGTGTGAGGAGCACAAGCCAGGGTGCCCCGAGGAGGAGGGTGGGTGGGTCCTTGTGTGGCCTGGCGCGCACCACAGGGCAGCACGGGAGACGTTGACACCACCGGACGAGAAAGAAAAAAGAGAGAAGAGAGAGAGGAGAAGAGAGAAAAGAAGAGAAGAGAGAAGAGAAGAGAAGGAAAGAGAGAGAGAGAATAAGAAAAGGAAGAAAGAAAAAGAAAAGATAGAATTTTATTGGTGCTGCATCCATGTGTTCTCTGCTCAGCAGCCAGGGTCTCCCACAGTCTTGAGGACCCCCACCCAGCACCCAGCCAGGCAGCCCCCTTCCTCTGCCACCTCGGGCCCCTCACCGACCTTCCCACCTCATCTCTGACTCCTCTTGGCTGTGGGTCCCCAGCTGCCCCACAGGAGCCCCCGGGACAACCCCAGGAGCCCAGCCCTCCATCTGAGGCCACCGAATTCTCCCTCTGCACCTGCACCCAGGGCTCCCGGGGAGGGGCTCGCGGCTCTGCCACAGACCCCCACCCTGCAGGGGCTGCTGCACTGGGGAGGGGCAGGCAGAGCCTTCGCTGTCTCAGGCCAGAGCCCGCAGAGGCCTTGGCCACAGTCCTTTGAGGATCAAGAGTGATGGGCCTTGGAGCCCTTGCCAGCCCAGCCCACCTGTGAGGAGGCTGCCCATCCCCTCTTTGAGGCCACCCTGTGTCCTCTCCCCTGCCTCTGCCCAGAGCTCCAGCCGGAGTGTCTTGCTGCTCAGACCCCTCCGAGGTCCAAGTCCTGTCCTGCCACTCAGCTCCCCCTGCACCCCAGAAGAAACGCAGGGTGCGGTTGCATTTGATTTCAGATAAACAACAACTTCTTAGTAAAATGACCTCCCCACTATTGCCTGTCTGAAATTAACCGAATGCCCTGTGTTCTCATCTGTGAATCTGGCCACCCTCCTACCCAGCCACCTGCCTGCCCTCCACCCACCCAGACTTTAGCACCTCCCTCCCAGGCGTGGGGAGTGGCCGTGGTCACTGGCTGGATCCTCAGGTGAGTCGGAGGGAGCAGCACCAGGACACGCCCCCCTCCTGGACGCGGTAGAAGAGAGGGGTCAGAGGGCCCGGGCGAGGGCGGCACCTCGTCCTGCCCTGGGCGCCTGTGGTCGTCTCCTCATCCTGCATCTCCCTGGCCCGGGCCTGGCTCCTAGGAGCTGGGGCTGGGGCTGTGGCTGCGGCGCCCTTGCCCCACCTGCCGGCGGAAGTAGCGGATGGCAGAGATGGTGCCGACGTTGGCCAGCAAGGCTGCAAGAGAAGCACAGGCTCTTCTGAGGGCCAGCCTGGCTGTCGGCACCGTCTGCCCGCAAGACCCAGCCCTCAAAGGGCGGGCAAGGTCGGTGCGGCCAGGGCCGCAGCTCAGCCTGGGGGGAGCAGGTCAGGGGTGAGCCCCGGGGCCCCCGTGCACCCCTCGTCCTGCCAGCGCCCCTCGGTCTGGCTTCTAGGCGCAGCTCCCTCTGCCCCCAGGCACCCAAACCTGTTTTCCAGGCGTCTGGGGTATGCGGATCTGACGTCCTCACAGCCCAGGTGGCAAAAGCTACAAACACCAGGCACATGTCATTCTGGCTGAAGGCAAATGATGGGACAGGCCCCCGGAGCTCCCCTAGGACAGAAGCTCACCTTCAGCCCCACGGCTGCACTCAGAGATGGCCCCGCACACGCCCGCCCCGGGAACCGCCTGCCCCCACCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCACCCCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCAGGAACCGCCTCCCAACCCCCCCCAACCCCAGGAACCGCCTCCCAACCCCCCCCAACCCCAGGAACTGCCTGCCCCGGGAGCCGCTTCCCCCGCAACCCCGGGAACCACCTGCCCCGCACACGGCCGCCCCGGGAACCGCCTGCCTCCCCCTCCAACCCCAGGAACCGCCTGCCCCACCCTAACCCTGCACACTCTTGGCCTGGGAACTGCCTGCCCCGCACACGCCCGCCCCGGGAACCGCCTGCCCCAGATACATCCAT
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TGGAGGCCAGGGGGGCCAGTAGGGAGTTGGGGAGATGGGACTGGGGAGGGAGAGCAGGGGGACATGGGGGGCTGCACAGTGACAGGCCGCCTCCAAGCTCCCTGCCTGGGGCTGTGCCCGGCTCTCAGACTTGCGGTTTGGGGTTCCAGGTCTCCTCTGCCAGGGAAGGTTCGCCCGAACCCTGGCTGCCTCTGACAGGTGAGTAAGGATCCTGCCTCCTGAGGTGAGTGCCTGTTGCCTCCCACAGGCTGACACATCTCTGCCTTCCCTACCAGATGGTCGGTCCCCCAGGAGGAGCCGGGACCCCGGCTACGACCACCTCTGGGACGAGACTTTGTCTTCCTCCCACCAGAAGTGCCCCCAGCTTGGAGGGCCTGAGGCCAGTGGGGGGCTTGTGCAGTGGATCTGATGGCCGCGGTGAGGTGGGTTCTCAGGACCACCCTCGCCAAGCTCCAGGGTACCTGCCCCTCTAACCCACTTCAAATTACAAGTCAGGGTCTGAACCCAGTGTGATGGGGGGAGTCTCTGGGGCCCTGAGTTCAGAGCCCGTCCCTCAGCTCCTGTTCCTTGGTGCCAGCAGCTGGGGCAGGGAAGGGTGGGAGGGGCCCCATCCAAAGGATGCCCTGGCCAGCGAGGCTGGGTCACAGGTCAGGGAGGTCCTGGCCGTCCACAGGGTCGGCCCTCAGCTCAGCCCGCCAGGAGTCAGGGAGGAGACTCGCTGGGAGTGGGAGGGCAGCACGGGCGTGAAGGTCGGAGGACAGAGAAAGGTCAGCAGGGTCAGAGTATGTGAGGTCAGAGGGCATGAGGGTCACAGGTCAGCAAGGTGTGAGGAGCACAAGCCAGGGTGCCCCGAGGAGGAGGGTGGGTGGGTCCTTGTGTGGCCTGGCGCGCACCACAGGGCAGCACGGGAGACGTTGACACCACCGGACGAGAAAGAAAAAAGAGAGAAGAGAGAGAGGAGAAGAGAGAAAAGAAGAGAAGAGAGAAGAGAAGAGAAGGAAAGAGAGAGAGAGAATAAGAAAAGGAAGAAAGAAAAAGAAAAGATAGAATTTTATTGGTGCTGCATCCATGTGTTCTCTGCTCAGCAGCCAGGGTCTCCCACAGTCTTGAGGACCCCCACCCAGCACCCAGCCAGGCAGCCCCCTTCCTCTGCCACCTCGGGCCCCTCACCGACCTTCCCACCTCATCTCTGACTCCTCTTGGCTGTGGGTCCCCAGCTGCCCCACAGGAGCCCCCGGGACAACCCCAGGAGCCCAGCCCTCCATCTGAGGCCACCGAATTCTCCCTCTGCACCTGCACCCAGGGCTCCCGGGGAGGGGCTCGCGGCTCTGCCACAGACCCCCACCCTGCAGGGGCTGCTGCACTGGGGAGGGGCAGGCAGAGCCTTCGCTGTCTCAGGCCAGAGCCCGCAGAGGCCTTGGCCACAGTCCTTTGAGGATCAAGAGTGATGGGCCTTGGAGCCCTTGCCAGCCCAGCCCACCTGTGAGGAGGCTGCCCATCCCCTCTTTGAGGCCACCCTGTGTCCTCTCCCCTGCCTCTGCCCAGAGCTCCAGCCGGAGTGTCTTGCTGCTCAGACCCCTCCGAGGTCCAAGTCCTGTCCTGCCACTCAGCTCCCCCTGCACCCCAGAAGAAACGCAGGGTGCGGTTGCATTTGATTTCAGATAAACAACAACTTCTTAGTAAAATGACCTCCCCACTATTGCCTGTCTGAAATTAACCGAATGCCCTGTGTTCTCATCTGTGAATCTGGCCACCCTCCTACCCAGCCACCTGCCTGCCCTCCACCCACCCAGACTTTAGCACCTCCCTCCCAGGCGTGGGGAGTGGCCGTGGTCACTGGCTGGATCCTCAGGTGAGTCGGAGGGAGCAGCACCAGGACACGCCCCCCTCCTGGACGCGGTAGAAGAGAGGGGTCAGAGGGCCCGGGCGAGGGCGGCACCTCGTCCTGCCCTGGGCGCCTGTGGTCGTCTCCTCATCCTGCATCTCCCTGGCCCGGGCCTGGCTCCTAGGAGCTGGGGCTGGGGCTGTGGCTGCGGCGCCCTTGCCCCGCCTGCCGGCGGAAGTAGCGGATGGCAGAGATGGTGCCGACGTTGGCCAGCAAGGCTGCAAGAGAAGCACAGGCTCTTCTGAGGGCCAGCCTGGCTGTCGGCACCGTCTGCCCGCAAGACCCAGCCCTCAAAGGGCGGGCAAGGTCGGTGCGGCCAGGGCCGCAGCTCAGCCTGGGGGGAGCAGGTCAGGGGTGAGCCCCGGGGCCCCCGTGCACCCCTCGTCCTGCCAGCGCCCCTCGGTCTGGCTTCTAGGCGCAGCTCCCTCTGCCCCCAGGCACCCAAACCTGTTTTCCAGGCGTCTGGGGTATGCGGATCTGACGTCCTCACAGCCCAGGTGGCAAAAGCTACAAACACCAGGCACATGTCATTCTGGCTGAAGGCAAATGATGGGACAGGCCCCCGGAGCTCCCCTAGGACAGAAGCTCACCTTCAGCCCCACGGCTGCACTCAGAGATGGCCCCGCACACGCCCGCCCCGGGAACCGCCTGCCCCCACCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCACCCCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCAGGAACCGCCTCCCAACCCCCCCCAACCCCAGGAACCGCCTCCCAACCCCCCCCAACCCCAGGAACTGCCTGCCCCGGGAGCCGCTTCCCCCGCAACCCCGGGAACCACCTGCCCCGCACACGGCCGCCCCGGGAACCGCCTGCCTCCCCCTCCAACCCCAGGAACCGCCTGCCCCACCCTAACCCTGCACACTCTTGGCCTGGGAACTGCCTGCCCCGCACACGCCCGCCCCGGGAACCGCCTGCCCCAGATACATCCAT
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Task1_train_2
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Gene AGRN (agrin) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Congenital myasthenic syndrome 8
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AGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGGTGAGTGCTCTGGGCCGCGAGGGGACTCCCGCTGCTGCCTGCTCTTCCTCCTCGGGCGGCAGCCCCGCCCCTGCCGGCGCTCACGGAGCTGTTTTTCTGTCCTGTTCTCTTGGCCGCCTGCCCTGTCCTCTGCCTCCTCTGCCTCCCTGCTCTCTGCTCTCGCTCTGCAACCCCACCCGCTCTTCGGAGGCCAGAAATCCCGCAAGGTACTGTCGGCCTCTCATCCGCTCACCGTCTCTGGCGCCTCAACCCCTAGGGTAGCTCCTCCCCCACTAAGGACCCTGCCATTTCTGTGTGATTAACGCTGCCCCCTAGATAGGCAATGGGCGGGTGGGGCGGGTGCGTGCAGGTGCCTGGGCCCTGGGTCTGCACCGTGGGTGGGCTCTGCACAGCCACTTACCTGGCGTCCCCGCAGGTTCCGCACACCGTCCTCAACCTGAAGGAGCCGCTCTACGTAGGGGGCGCTCCCGACTTCAGCAAGCTGGCCCGTGCTGCTGCCGTGTCCTCTGGCTTCGACGGTGCCATCCAGCTGGTATGTGGGGGCGGGGCGTCCCAGCAGGGCCTCCGGGGCGGGCGGGGTGGCAGGCGGGACAAGGCCCTCACCCTGCCCTGCAGGTCTCCCTCGGAGGCCGCCAGCTGCTGACCCCGGAGCACGTGCTGCGGCAGGTGGACGTCACGTCCTTTGCAGGTCACCCCTGCACCCGGGCCTCAGGCCACCCCTGCCTCAATGGGGCCTCCTGCGTCCCGAGGGAGGCTGCCTATGTGTGCCTGTGTCCCGGGGGATTCTCAGGACCGCACTGCGAGAAGGGTGAGCCTGGCACAGGGCAGGGGGCGGAGGCCGGATGGGCCCGGAGCCCACGAGGCCCCACCCTCACCTGCCTATCTCACAGGGCTGGTGGAGAAGTCAGCGGGGGACGTGGATACCTTGGCCTTTGACGGGCGGACCTTTGTCGAGTACCTCAACGCTGTGACCGAGAGGTAACGTGCCATCCTCTGCTGGCTGTCGGTTCCATCTGTGCCCTCGGGGCGGGACACCGGACCCCCACACCAGGAGGGCCCAGGAGGGGACGGCCCGGTGCTGCCACCTCTGTCCTCCCGCCTCTCTCTCACCTCCCGGTCCTCCCGCCTCTCACTGTCTGTCTCTTTGTTTCCAAGCGAACTGGCCAATGAGATCCCCGTGTGAGTAGAGCTCGGCGCCCCCCGCTCCCTCTCACTCCCACTCCTCCATCCTTCCTGGTGGGGAGCAGAGTCCGGAGCCCCCGGGGAACTTTCCATCCCTTGTGGCGGAGGATGGGGGTCCGGCGCTATTTGGCTGCAAGAGGCCGTTTCCTGCCTCAGAAGTGCAGTCGCCCCTCCCAGGGCACAGGCCGAGGGTCGCCCCACAGCCAACCCCCACCACTGAGGCTGTACACACCTGTGCGCATATGCATGCATGTCTGTGTCCGTGTGCACTTCCGCGTGTGTGAACATGCAGCTGTGTCTGTGCGTGTCTATGTATATGGAGTGGATGTGCAAGTGTGTGTGAATATCCAGCTGTGTGTGTGCATGGGTCCATGTATATGTGTGTGTGTATATGTGGGGGGGACATGTAGATATGCGTGTGTGACTATGCGGCCGTGTGTGTGCATGGCTCCATGTATGTGTGTGTATATGAGGGAG
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AGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCATGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGGTGAGTGCTCTGGGCCGCGAGGGGACTCCCGCTGCTGCCTGCTCTTCCTCCTCGGGCGGCAGCCCCGCCCCTGCCGGCGCTCACGGAGCTGTTTTTCTGTCCTGTTCTCTTGGCCGCCTGCCCTGTCCTCTGCCTCCTCTGCCTCCCTGCTCTCTGCTCTCGCTCTGCAACCCCACCCGCTCTTCGGAGGCCAGAAATCCCGCAAGGTACTGTCGGCCTCTCATCCGCTCACCGTCTCTGGCGCCTCAACCCCTAGGGTAGCTCCTCCCCCACTAAGGACCCTGCCATTTCTGTGTGATTAACGCTGCCCCCTAGATAGGCAATGGGCGGGTGGGGCGGGTGCGTGCAGGTGCCTGGGCCCTGGGTCTGCACCGTGGGTGGGCTCTGCACAGCCACTTACCTGGCGTCCCCGCAGGTTCCGCACACCGTCCTCAACCTGAAGGAGCCGCTCTACGTAGGGGGCGCTCCCGACTTCAGCAAGCTGGCCCGTGCTGCTGCCGTGTCCTCTGGCTTCGACGGTGCCATCCAGCTGGTATGTGGGGGCGGGGCGTCCCAGCAGGGCCTCCGGGGCGGGCGGGGTGGCAGGCGGGACAAGGCCCTCACCCTGCCCTGCAGGTCTCCCTCGGAGGCCGCCAGCTGCTGACCCCGGAGCACGTGCTGCGGCAGGTGGACGTCACGTCCTTTGCAGGTCACCCCTGCACCCGGGCCTCAGGCCACCCCTGCCTCAATGGGGCCTCCTGCGTCCCGAGGGAGGCTGCCTATGTGTGCCTGTGTCCCGGGGGATTCTCAGGACCGCACTGCGAGAAGGGTGAGCCTGGCACAGGGCAGGGGGCGGAGGCCGGATGGGCCCGGAGCCCACGAGGCCCCACCCTCACCTGCCTATCTCACAGGGCTGGTGGAGAAGTCAGCGGGGGACGTGGATACCTTGGCCTTTGACGGGCGGACCTTTGTCGAGTACCTCAACGCTGTGACCGAGAGGTAACGTGCCATCCTCTGCTGGCTGTCGGTTCCATCTGTGCCCTCGGGGCGGGACACCGGACCCCCACACCAGGAGGGCCCAGGAGGGGACGGCCCGGTGCTGCCACCTCTGTCCTCCCGCCTCTCTCTCACCTCCCGGTCCTCCCGCCTCTCACTGTCTGTCTCTTTGTTTCCAAGCGAACTGGCCAATGAGATCCCCGTGTGAGTAGAGCTCGGCGCCCCCCGCTCCCTCTCACTCCCACTCCTCCATCCTTCCTGGTGGGGAGCAGAGTCCGGAGCCCCCGGGGAACTTTCCATCCCTTGTGGCGGAGGATGGGGGTCCGGCGCTATTTGGCTGCAAGAGGCCGTTTCCTGCCTCAGAAGTGCAGTCGCCCCTCCCAGGGCACAGGCCGAGGGTCGCCCCACAGCCAACCCCCACCACTGAGGCTGTACACACCTGTGCGCATATGCATGCATGTCTGTGTCCGTGTGCACTTCCGCGTGTGTGAACATGCAGCTGTGTCTGTGCGTGTCTATGTATATGGAGTGGATGTGCAAGTGTGTGTGAATATCCAGCTGTGTGTGTGCATGGGTCCATGTATATGTGTGTGTGTATATGTGGGGGGGACATGTAGATATGCGTGTGTGACTATGCGGCCGTGTGTGTGCATGGCTCCATGTATGTGTGTGTATATGAGGGAG
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Task1_train_3
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The variant affects gene AGRN (agrin), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Congenital myasthenic syndrome 8
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TTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGGTGAGTGCTCTGGGCCGCGAGGGGACTCCCGCTGCTGCCTGCTCTTCCTCCTCGGGCGGCAGCCCCGCCCCTGCCGGCGCTCACGGAGCTGTTTTTCTGTCCTGTTCTCTTGGCCGCCTGCCCTGTCCTCTGCCTCCTCTGCCTCCCTGCTCTCTGCTCTCGCTCTGCAACCCCACCCGCTCTTCGGAGGCCAGAAATCCCGCAAGGTACTGTCGGCCTCTCATCCGCTCACCGTCTCTGGCGCCTCAACCCCTAGGGTAGCTCCTCCCCCACTAAGGACCCTGCCATTTCTGTGTGATTAACGCTGCCCCCTAGATAGGCAATGGGCGGGTGGGGCGGGTGCGTGCAGGTGCCTGGGCCCTGGGTCTGCACCGTGGGTGGGCTCTGCACAGCCACTTACCTGGCGTCCCCGCAGGTTCCGCACACCGTCCTCAACCTGAAGGAGCCGCTCTACGTAGGGGGCGCTCCCGACTTCAGCAAGCTGGCCCGTGCTGCTGCCGTGTCCTCTGGCTTCGACGGTGCCATCCAGCTGGTATGTGGGGGCGGGGCGTCCCAGCAGGGCCTCCGGGGCGGGCGGGGTGGCAGGCGGGACAAGGCCCTCACCCTGCCCTGCAGGTCTCCCTCGGAGGCCGCCAGCTGCTGACCCCGGAGCACGTGCTGCGGCAGGTGGACGTCACGTCCTTTGCAGGTCACCCCTGCACCCGGGCCTCAGGCCACCCCTGCCTCAATGGGGCCTCCTGCGTCCCGAGGGAGGCTGCCTATGTGTGCCTGTGTCCCGGGGGATTCTCAGGACCGCACTGCGAGAAGGGTGAGCCTGGCACAGGGCAGGGGGCGGAGGCCGGATGGGCCCGGAGCCCACGAGGCCCCACCCTCACCTGCCTATCTCACAGGGCTGGTGGAGAAGTCAGCGGGGGACGTGGATACCTTGGCCTTTGACGGGCGGACCTTTGTCGAGTACCTCAACGCTGTGACCGAGAGGTAACGTGCCATCCTCTGCTGGCTGTCGGTTCCATCTGTGCCCTCGGGGCGGGACACCGGACCCCCACACCAGGAGGGCCCAGGAGGGGACGGCCCGGTGCTGCCACCTCTGTCCTCCCGCCTCTCTCTCACCTCCCGGTCCTCCCGCCTCTCACTGTCTGTCTCTTTGTTTCCAAGCGAACTGGCCAATGAGATCCCCGTGTGAGTAGAGCTCGGCGCCCCCCGCTCCCTCTCACTCCCACTCCTCCATCCTTCCTGGTGGGGAGCAGAGTCCGGAGCCCCCGGGGAACTTTCCATCCCTTGTGGCGGAGGATGGGGGTCCGGCGCTATTTGGCTGCAAGAGGCCGTTTCCTGCCTCAGAAGTGCAGTCGCCCCTCCCAGGGCACAGGCCGAGGGTCGCCCCACAGCCAACCCCCACCACTGAGGCTGTACACACCTGTGCGCATATGCATGCATGTCTGTGTCCGTGTGCACTTCCGCGTGTGTGAACATGCAGCTGTGTCTGTGCGTGTCTATGTATATGGAGTGGATGTGCAAGTGTGTGTGAATATCCAGCTGTGTGTGTGCATGGGTCCATGTATATGTGTGTGTGTATATGTGGGGGGGACATGTAGATATGCGTGTGTGACTATGCGGCCGTGTGTGTGCATGGCTCCATGTATGTGTGTGTATATGAGGGAGACATGCAGGTATGTGTCCGTGTGTGTGTGTGTGCATATGGGTCCATGTATGTGTGTGTATATGAGGGAGACACGCAGGTGTGTGTCTGAGTGTGTGCGCACATGGGTCCATGTATGTGTGTGTATA
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TTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGCGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGGTGAGTGCTCTGGGCCGCGAGGGGACTCCCGCTGCTGCCTGCTCTTCCTCCTCGGGCGGCAGCCCCGCCCCTGCCGGCGCTCACGGAGCTGTTTTTCTGTCCTGTTCTCTTGGCCGCCTGCCCTGTCCTCTGCCTCCTCTGCCTCCCTGCTCTCTGCTCTCGCTCTGCAACCCCACCCGCTCTTCGGAGGCCAGAAATCCCGCAAGGTACTGTCGGCCTCTCATCCGCTCACCGTCTCTGGCGCCTCAACCCCTAGGGTAGCTCCTCCCCCACTAAGGACCCTGCCATTTCTGTGTGATTAACGCTGCCCCCTAGATAGGCAATGGGCGGGTGGGGCGGGTGCGTGCAGGTGCCTGGGCCCTGGGTCTGCACCGTGGGTGGGCTCTGCACAGCCACTTACCTGGCGTCCCCGCAGGTTCCGCACACCGTCCTCAACCTGAAGGAGCCGCTCTACGTAGGGGGCGCTCCCGACTTCAGCAAGCTGGCCCGTGCTGCTGCCGTGTCCTCTGGCTTCGACGGTGCCATCCAGCTGGTATGTGGGGGCGGGGCGTCCCAGCAGGGCCTCCGGGGCGGGCGGGGTGGCAGGCGGGACAAGGCCCTCACCCTGCCCTGCAGGTCTCCCTCGGAGGCCGCCAGCTGCTGACCCCGGAGCACGTGCTGCGGCAGGTGGACGTCACGTCCTTTGCAGGTCACCCCTGCACCCGGGCCTCAGGCCACCCCTGCCTCAATGGGGCCTCCTGCGTCCCGAGGGAGGCTGCCTATGTGTGCCTGTGTCCCGGGGGATTCTCAGGACCGCACTGCGAGAAGGGTGAGCCTGGCACAGGGCAGGGGGCGGAGGCCGGATGGGCCCGGAGCCCACGAGGCCCCACCCTCACCTGCCTATCTCACAGGGCTGGTGGAGAAGTCAGCGGGGGACGTGGATACCTTGGCCTTTGACGGGCGGACCTTTGTCGAGTACCTCAACGCTGTGACCGAGAGGTAACGTGCCATCCTCTGCTGGCTGTCGGTTCCATCTGTGCCCTCGGGGCGGGACACCGGACCCCCACACCAGGAGGGCCCAGGAGGGGACGGCCCGGTGCTGCCACCTCTGTCCTCCCGCCTCTCTCTCACCTCCCGGTCCTCCCGCCTCTCACTGTCTGTCTCTTTGTTTCCAAGCGAACTGGCCAATGAGATCCCCGTGTGAGTAGAGCTCGGCGCCCCCCGCTCCCTCTCACTCCCACTCCTCCATCCTTCCTGGTGGGGAGCAGAGTCCGGAGCCCCCGGGGAACTTTCCATCCCTTGTGGCGGAGGATGGGGGTCCGGCGCTATTTGGCTGCAAGAGGCCGTTTCCTGCCTCAGAAGTGCAGTCGCCCCTCCCAGGGCACAGGCCGAGGGTCGCCCCACAGCCAACCCCCACCACTGAGGCTGTACACACCTGTGCGCATATGCATGCATGTCTGTGTCCGTGTGCACTTCCGCGTGTGTGAACATGCAGCTGTGTCTGTGCGTGTCTATGTATATGGAGTGGATGTGCAAGTGTGTGTGAATATCCAGCTGTGTGTGTGCATGGGTCCATGTATATGTGTGTGTGTATATGTGGGGGGGACATGTAGATATGCGTGTGTGACTATGCGGCCGTGTGTGTGCATGGCTCCATGTATGTGTGTGTATATGAGGGAGACATGCAGGTATGTGTCCGTGTGTGTGTGTGTGCATATGGGTCCATGTATGTGTGTGTATATGAGGGAGACACGCAGGTGTGTGTCTGAGTGTGTGCGCACATGGGTCCATGTATGTGTGTGTATA
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Task1_train_4
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The gene TNFRSF4 (TNF receptor superfamily member 4) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Combined immunodeficiency due to OX40 deficiency
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CATGAGGCACTCACCAGGGGGCTTGTGGGCATCGGGGGGCAGCCTCTGGTCCCTCCGGAGCAGGTACAGGGCCAGCAGGATGGCCAGGGGGCCCAGCAGCCCCAGCACCAGGCCCAGGCCCAGGATGGCGGCAACCGCACGGCCTGCAGGAAGGGGTCTGCTGGGTGGGGTCCACAGGAGGGGCCCCCATGCCGCCCTCCCCTTCTCCTATTCGGGTTGGGGGCCCCGCTGGGCTGGGCCAGGCGCCCTTACCCCCGGGGACCTCCACGGGCCGGGTGGAGGGTCCCTGTGAGGTTCTGGGCCAGGCTTCAGTGGGCTGGACAGTGATGGGCCTGGCCGGGGGGCCCTGGGTCTCCTGGGGCTGCGTGGCTGGGGGGTCCCTGTCCTCACAGATTGCGTCCGAGCTATTGCTGGCCGGCTGCAGGGTGTGCTTCCCAGCCAAGGTGCAGCTGTTGGGGAACAGGAGGTGTTGCTCAGGCCAGAAACCCCCTGGGACCCGGGAGATGCGGTGGGGATAACAGGGTCCACGCTGGCCAGCCACAGGCAGCATCTACCACAGACACCAGGCCAGTGACAGCCAAGGACGCTGCCCAGCCCCACGTGCCCCCCACAGGGGCCTCCAAGGCCACACACCCTTCTCCCACATCTACACCCCCCACCAGCACCTCCCTGTCCTGTGCCCCCAGGGCCTCCCAGCTGCGGAGGGTGAGGGTCCCACACACCCAGCTCCACCCACAGGGAAAGGCTGCCCCCAGGCAGCAGCTTCCTGCTCCCCAACCAGGTCCAGCCACATAGCCAGGCCCCCAGGGCCACCAGCACCTCCCCTTCCCCCAAAACTGCCCCCACCCCACCTGCCCCCCCAGCCCCTCCCAGCTCCCCAGCTCCTCCGCCCTCCTAACCACCCCAACCCCCCCCCAGCCCCTCCCAGCCCCTGGCCAGGCCCCTCACTTGGTCCAGGGCTTGCAGGCCTGGTTGTCGCCTGGGGAGAAGTGCCCTGGAGGGCAGGGGGCACAGTCTGCAACAAAGATAGGGTGGTCAGGGGCTGCCCACAGGCCCCGGGTGCTGGGGACATGGGGCAGAGCCTGTGGGGCAGGCACTTGCCCCCCATGGCTGGGTGGTGGGTTTGGCCTCTGGAAGCCCTCCCTGCCCACATCCCACCCGTGGGCCCTGACCCGGGAGCTCGGTCTTGAGGATGCCAGAGGAGGCACCGGTGGGGCCAGGTCCCTGCGGCCCACGGCCCATCTGCGTCACAGACAGCCGCTATGCACACCCCCAACCGCCGGCCGCAGCCACCGAGCTCACCAACTCCAGGCTTGTAGCTGTCCAGGGGCTGGGTGCCCGCCCGGCAGCGGCAGACTGTGTCCTGTGTGGCCGTGCACAGCTGCTTCCGCTCACTCCCACTTCCTGAGCAGGGGCCGGATGGGGGGGTGGTCAGGTGGGGGCTGTGGACAGGGTCCTCAGGAAGCGTGGGCACTGGAGGACAGGTTGGCCTCCCCACCACACAGAGGGCCGTGGGCAGGGGTCTGCGGCCTCCCCTGAGACTTGGAGCCCCTGCAGCCCCCGAGGCTCCTGGGCCCTCCCTTCCTGGCCACAACCTGGGGCTGGTTCCGTGGCAGCCCCAGCCACCCTTCCCTACCCCTCCACCGCCTCCAGCCGCCAGCCCCGCCTGCGGCAGGGTCTCCATGGCCCAACCCCCCAGCCTCACTGCTCAGGCCAGCAAGGCCAGGCCACATGGCCAGCGTGGTCTCCCCGACTCCACGTGGCCTGGGCCGAGTCTGGGCCCCCGGAGGGAGAGGGGGTGCCCCTGGGAGACGCCTCAGCTCCTCGAAGGACCCCTGTGGCGGAGCAGACCCCGCTGTGGTTTGAGGTTCGTTTCTGCGGCTGTGGGAGCCCCATGCTGCTGCGTGGGAATGTGGGTGCCAGGCTGCCGCCCCCTGTGCTGGGTGGGGCTGTGGGGCCAGGTGGGAGCTCACTGAGGTTACACCACGTGCAGGGCTTGCACGGCTTGGAGCTGACCACGTCGTTGTAGAAGCCCGGCCCGCACGGACGGCACACCGTGTTCTGGGAGCGGCTGCAGCGGCTCACCATCCCGTTGCCTGCAGCAGAGGCCGGCGTCAGGCAGCGGTCAGGCCCCAGGCTTGCGCCCGTGGACCCCCCCAGGCGGCTCCTCTGCCAGGCTTGGCCGGCCCCTCACCCGCCCCCTCCCCAGGACCAGCCTCCTGGCTGGCCCATCCCTGCCCCAGCCCCCAGTCCCTGGAGTGCCCGTGCGTGGCGACCCCTCCTGAGGCCTCACCTGGCCTGCACTCGTGGCAGCACCGGTCGTTGCTGGGGTAGGTGTCCCCGACACAGTGGAGCCCCGTCACGGTGCTCAGCCCCAGGCCCAGGAGGAGCAGAGCCGCACACGGCCCGCGGCCCAGCCGCCGAGCCCCCACGCACATCCTCGTCTCTGCTGTCGCCAGAGTCTGGGTTTTCCTTGCGGGGTGTGGCTATAAGGACTGTGGAGGAGGGGAGGGGAGAGGGGAGGAGGGCAGAGGAGGCGGGAGGAGGAAGGTGGCAGGCCGGGGACCCTGGCTGTGGGCTGGGCACAAAGGCGGGGTCTGGGCACCCCCAGCATTGGCTTATTCTGCCTTCTGACCTCTTCTGCCCAAGACCACCGTGTTCAGACCCCAGGGCACAGTAGGGCCTGGCCTGCGGCTCGACCCTCAGCAAAAAGGTCCATGGAGCACGTGGGTAAACTGAGGCAGCACTGAGTCAGGAGAGGCAACTCCTCAGTCTGGACCTTCAGGGCTGTGGCACTGCTGAAGCATGGTCCCCCTTGTATGCCCAAGACTAGCTCTGAGCAGCAGTGACCACAGCCATGGTAAGACAGACACCCATGGCCAGGCACGGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGGCTAACATGGCGAAATCCCGTCTCTACTAAAACTACAAAAATTATTCGGGCGTGGTGGCGGGCGCCGGTAATCCCAGCTAGTCAGGAGGCTGAGGTAGCAGAATCACTCGAACCCAGGAGACAGAAGTTGCAAAGCAGAGGTGGCGCCACTGCACTCCAGCCTGGGCGACAGGGCGAGACTCATCTCAAAAAAAAAAAAAAAGACACCCGTGACCACAGCCCACGCTGAGTGTGCCTGAGCACGGCAGGTGTCTATGGCTGAACTGTGCCCCTTAAATTCCTGCGTGGAAGCCCTAACCCCCATGTGGCAGTGTTTGGAGACAGGCCTCTGAGGAGGTGGTGAGGGTGGGTCCTGGATGGCCTGGCGCACACGGGCACGCAGGCAGGTTTCCACCTTCTATGCAAACAGTTCTCAGGTTCCAGGTTTGCCCAGAGGATGCGAACTGCCCGGAGAGCTGGGGAGCAGGTGCGGGGCTGGGGGCTCCCTGGGCCCTTTCTGCACCTTTCAAATAACTGTGACCAGCCTGTGATTATCCAAAAGTTCATTTTTGAAGTTGCAAGTGGAGAGGGGCCTCTAGGAACAGAGCAGCAGGGAAGGGGCTGGAAATCCCCTCCTCCCAGGAGCACAGGAAACAGCTGCCTGTCCTCGGCCCACCCGTGGGGAAATTCCCAGCCGTGGAGCCCGCTGGCCCTGGAGAGGGAGGGAGTGGAGGGAGAGGCCACCCGCCCTCGGACTGAGGGTCCCTAAGTTGGTCACCCTCCCCACGTCCCCACAAGTAGAGAGGACCCTGGAAGGGCTCAGAGCATCCCAGACAGTGTGTGTACCTGCATGTGCACACCCCAACCCAGGTGGGCAGAGGAGGAAAGTTCTGGCATTTTGTGGAAGGTTCCACCCAGCGTTCACAAGGGTTTCCCACTGACAGTGAGAAAAAGCTTACATTTGCAATTGGTTCCTTGGAGGTTCAGGTGAACTGGGGGTCTTGGTGGGCAACACTGCTCTCCTGGGGCCTAAGTGGCCACATCTGCCCACAGGTGCAGTGAGTGGGGCCCGTGCACCATGGAGAGGGCACCCCCAGCATATTGCTGGCAACTGCAATGGCCCCAGGATGGGGCACGGCCCCTCCTGC
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CATGAGGCACTCACCAGGGGGCTTGTGGGCATCGGGGGGCAGCCTCTGGTCCCTCCGGAGCAGGTACAGGGCCAGCAGGATGGCCAGGGGGCCCAGCAGCCCCAGCACCAGGCCCAGGCCCAGGATGGCGGCAACCGCACGGCCTGCAGGAAGGGGTCTGCTGGGTGGGGTCCACAGGAGGGGCCCCCATGCCGCCCTCCCCTTCTCCTATTCGGGTTGGGGGCCCCGCTGGGCTGGGCCAGGCGCCCTTACCCCCGGGGACCTCCACGGGCCGGGTGGAGGGTCCCTGTGAGGTTCTGGGCCAGGCTTCAGTGGGCTGGACAGTGATGGGCCTGGCCGGGGGGCCCTGGGTCTCCTGGGGCTGCGTGGCTGGGGGGTCCCTGTCCTCACAGATTGCGTCCGAGCTATTGCTGGCCGGCTGCAGGGTGTGCTTCCCAGCCAAGGTGCAGCTGTTGGGGAACAGGAGGTGTTGCTCAGGCCAGAAACCCCCTGGGACCCGGGAGATGCGGTGGGGATAACAGGGTCCACGCTGGCCAGCCACAGGCAGCATCTACCACAGACACCAGGCCAGTGACAGCCAAGGACGCTGCCCAGCCCCACGTGCCCCCCACAGGGGCCTCCAAGGCCACACACCCTTCTCCCACATCTACACCCCCCACCAGCACCTCCCTGTCCTGTGCCCCCAGGGCCTCCCAGCTGCGGAGGGTGAGGGTCCCACACACCCAGCTCCACCCACAGGGAAAGGCTGCCCCCAGGCAGCAGCTTCCTGCTCCCCAACCAGGTCCAGCCACATAGCCAGGCCCCCAGGGCCACCAGCACCTCCCCTTCCCCCAAAACTGCCCCCACCCCACCTGCCCCCCCAGCCCCTCCCAGCTCCCCAGCTCCTCCGCCCTCCTAACCACCCCAACCCCCCCCCAGCCCCTCCCAGCCCCTGGCCAGGCCCCTCACTTGGTCCAGGGCTTGCAGGCCTGGTTGTCGCCTGGGGAGAAGTGCCCTGGAGGGCAGGGGGCACAGTCTGCAACAAAGATAGGGTGGTCAGGGGCTGCCCACAGGCCCCGGGTGCTGGGGACATGGGGCAGAGCCTGTGGGGCAGGCACTTGCCCCCCATGGCTGGGTGGTGGGTTTGGCCTCTGGAAGCCCTCCCTGCCCACATCCCACCCGTGGGCCCTGACCCGGGAGCTCGGTCTTGAGGATGCCAGAGGAGGCACCGGTGGGGCCAGGTCCCTGCGGCCCACGGCCCATCTGCGTCACAGACAGCCGCTATGCACACCCCCAACCGCCGGCCGCAGCCACCGAGCTCACCAACTCCAGGCTTGTAGCTGTCCAGGGGCTGGGTGCCCGCCCGGCAGCGGCAGACTGTGTCCTGTGTGGCCGTGCACAGCTGCTTCCGCTCACTCCCACTTCCTGAGCAGGGGCCGGATGGGGGGGTGGTCAGGTGGGGGCTGTGGACAGGGTCCTCAGGAAGCGTGGGCACTGGAGGACAGGTTGGCCTCCCCACCACACAGAGGGCCGTGGGCAGGGGTCTGCGGCCTCCCCTGAGACTTGGAGCCCCTGCAGCCCCCGAGGCTCCTGGGCCCTCCCTTCCTGGCCACAACCTGGGGCTGGTTCCGTGGCAGCCCCAGCCACCCTTCCCTACCCCTCCACCGCCTCCAGCCGCCAGCCCCGCCTGCGGCAGGGTCTCCATGGCCCAACCCCCCAGCCTCACTGCTCAGGCCAGCAAGGCCAGGCCACATGGCCAGCGTGGTCTCCCCGACTCCACGTGGCCTGGGCCGAGTCTGGGCCCCCGGAGGGAGAGGGGGTGCCCCTGGGAGACGCCTCAGCTCCTCGAAGGACCCCTGTGGCGGAGCAGACCCCGCTGTGGTTTGAGGTTCGTTTCTGCGGCTGTGGGAGCCCCATGCTGCTGCGTGGGAATGTGGGTGCCAGGCTGCCGCCCCCTGTGCTGGGTGGGGCTGTGGGGCCAGGTGGGAGCTCACTGAGGTTACACCACGTGCAGGGCTTGCACGGCTTGGAGCTGACCACGTCGTTGTAGAAGCCCGGCCCGCACGGACAGCACACCGTGTTCTGGGAGCGGCTGCAGCGGCTCACCATCCCGTTGCCTGCAGCAGAGGCCGGCGTCAGGCAGCGGTCAGGCCCCAGGCTTGCGCCCGTGGACCCCCCCAGGCGGCTCCTCTGCCAGGCTTGGCCGGCCCCTCACCCGCCCCCTCCCCAGGACCAGCCTCCTGGCTGGCCCATCCCTGCCCCAGCCCCCAGTCCCTGGAGTGCCCGTGCGTGGCGACCCCTCCTGAGGCCTCACCTGGCCTGCACTCGTGGCAGCACCGGTCGTTGCTGGGGTAGGTGTCCCCGACACAGTGGAGCCCCGTCACGGTGCTCAGCCCCAGGCCCAGGAGGAGCAGAGCCGCACACGGCCCGCGGCCCAGCCGCCGAGCCCCCACGCACATCCTCGTCTCTGCTGTCGCCAGAGTCTGGGTTTTCCTTGCGGGGTGTGGCTATAAGGACTGTGGAGGAGGGGAGGGGAGAGGGGAGGAGGGCAGAGGAGGCGGGAGGAGGAAGGTGGCAGGCCGGGGACCCTGGCTGTGGGCTGGGCACAAAGGCGGGGTCTGGGCACCCCCAGCATTGGCTTATTCTGCCTTCTGACCTCTTCTGCCCAAGACCACCGTGTTCAGACCCCAGGGCACAGTAGGGCCTGGCCTGCGGCTCGACCCTCAGCAAAAAGGTCCATGGAGCACGTGGGTAAACTGAGGCAGCACTGAGTCAGGAGAGGCAACTCCTCAGTCTGGACCTTCAGGGCTGTGGCACTGCTGAAGCATGGTCCCCCTTGTATGCCCAAGACTAGCTCTGAGCAGCAGTGACCACAGCCATGGTAAGACAGACACCCATGGCCAGGCACGGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGGCTAACATGGCGAAATCCCGTCTCTACTAAAACTACAAAAATTATTCGGGCGTGGTGGCGGGCGCCGGTAATCCCAGCTAGTCAGGAGGCTGAGGTAGCAGAATCACTCGAACCCAGGAGACAGAAGTTGCAAAGCAGAGGTGGCGCCACTGCACTCCAGCCTGGGCGACAGGGCGAGACTCATCTCAAAAAAAAAAAAAAAGACACCCGTGACCACAGCCCACGCTGAGTGTGCCTGAGCACGGCAGGTGTCTATGGCTGAACTGTGCCCCTTAAATTCCTGCGTGGAAGCCCTAACCCCCATGTGGCAGTGTTTGGAGACAGGCCTCTGAGGAGGTGGTGAGGGTGGGTCCTGGATGGCCTGGCGCACACGGGCACGCAGGCAGGTTTCCACCTTCTATGCAAACAGTTCTCAGGTTCCAGGTTTGCCCAGAGGATGCGAACTGCCCGGAGAGCTGGGGAGCAGGTGCGGGGCTGGGGGCTCCCTGGGCCCTTTCTGCACCTTTCAAATAACTGTGACCAGCCTGTGATTATCCAAAAGTTCATTTTTGAAGTTGCAAGTGGAGAGGGGCCTCTAGGAACAGAGCAGCAGGGAAGGGGCTGGAAATCCCCTCCTCCCAGGAGCACAGGAAACAGCTGCCTGTCCTCGGCCCACCCGTGGGGAAATTCCCAGCCGTGGAGCCCGCTGGCCCTGGAGAGGGAGGGAGTGGAGGGAGAGGCCACCCGCCCTCGGACTGAGGGTCCCTAAGTTGGTCACCCTCCCCACGTCCCCACAAGTAGAGAGGACCCTGGAAGGGCTCAGAGCATCCCAGACAGTGTGTGTACCTGCATGTGCACACCCCAACCCAGGTGGGCAGAGGAGGAAAGTTCTGGCATTTTGTGGAAGGTTCCACCCAGCGTTCACAAGGGTTTCCCACTGACAGTGAGAAAAAGCTTACATTTGCAATTGGTTCCTTGGAGGTTCAGGTGAACTGGGGGTCTTGGTGGGCAACACTGCTCTCCTGGGGCCTAAGTGGCCACATCTGCCCACAGGTGCAGTGAGTGGGGCCCGTGCACCATGGAGAGGGCACCCCCAGCATATTGCTGGCAACTGCAATGGCCCCAGGATGGGGCACGGCCCCTCCTGC
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Task1_train_5
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The gene B3GALT6 (beta-1,3-galactosyltransferase 6) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2
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ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGC
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ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCGTGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGC
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Task1_train_6
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This mutation is located in gene B3GALT6 (beta-1,3-galactosyltransferase 6) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2
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ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGC
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ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCGTGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGC
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Task1_train_7
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Gene B3GALT6 (beta-1,3-galactosyltransferase 6), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity
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ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGC
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ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCGTGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGC
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Task1_train_8
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Consider this mutation in B3GALT6 (beta-1,3-galactosyltransferase 6) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity
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TTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCT
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TTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCACGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCT
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Task1_train_9
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Assess the clinical impact of this variant on gene B3GALT6 (beta-1,3-galactosyltransferase 6), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2
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TTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCT
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TTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCACGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCT
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Task1_train_10
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Gene B3GALT6 (beta-1,3-galactosyltransferase 6), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity
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TCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTC
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TCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATAAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTC
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Task1_train_11
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Located on Chromosome 1, this mutation impacts B3GALT6 (beta-1,3-galactosyltransferase 6). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2
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TCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTC
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TCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATAAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTC
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Task1_train_12
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Gene B3GALT6 (beta-1,3-galactosyltransferase 6), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
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CCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCC
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CCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCGGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCC
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Task1_train_13
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Assess the clinical impact of this variant on gene B3GALT6 (beta-1,3-galactosyltransferase 6), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2
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GAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGT
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GAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCTCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGT
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Task1_train_14
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The following genetic variant occurs in B3GALT6 (beta-1,3-galactosyltransferase 6) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity
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GAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGT
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GAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCTCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGT
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Task1_train_15
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A variant on Chromosome 1 in gene B3GALT6 (beta-1,3-galactosyltransferase 6) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
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TGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCA
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TGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGAACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCA
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Task1_train_16
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Consider this mutation in B3GALT6 (beta-1,3-galactosyltransferase 6) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Al-Gazali syndrome
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GCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGC
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GCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTACTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGC
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Task1_train_17
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The variant affects gene B3GALT6 (beta-1,3-galactosyltransferase 6), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
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TCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTC
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TCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCCTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTC
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Task1_train_18
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With a mutation on Chromosome 1 in gene B3GALT6 (beta-1,3-galactosyltransferase 6), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Al-Gazali syndrome
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GTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGA
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GTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGGGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGA
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Task1_train_19
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Assess the clinical impact of this variant on gene B3GALT6 (beta-1,3-galactosyltransferase 6), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
|
TCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAA
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TCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCCACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAA
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Task1_train_20
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This is a variant in B3GALT6 (beta-1,3-galactosyltransferase 6), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures
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GGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAAGAGTCTAAAAATCCAGTTTGCAACCACTTC
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GGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCAGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAAGAGTCTAAAAATCCAGTTTGCAACCACTTC
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Task1_train_21
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An alteration has been detected in B3GALT6 (beta-1,3-galactosyltransferase 6) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2
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GTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAAGAGTCTAAAAATCCAGTTTGCAACCACTTCTGACCTACAAAAAAATGGAAATTTAGTGTTTTTCAGCCTAAGACATTAAATTTCATATCAGAACAAAGCCTGCCCCAGGCTGACCCTCCCCAGCCGTACCGTGGTGAACGGGTTCAG
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GTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGTGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAAGAGTCTAAAAATCCAGTTTGCAACCACTTCTGACCTACAAAAAAATGGAAATTTAGTGTTTTTCAGCCTAAGACATTAAATTTCATATCAGAACAAAGCCTGCCCCAGGCTGACCCTCCCCAGCCGTACCGTGGTGAACGGGTTCAG
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Task1_train_22
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This sequence change occurs on Chromosome 1, altering B3GALT6 (beta-1,3-galactosyltransferase 6). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
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ATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAAGAGTCTAAAAATCCAGTTTGCAACCACTTCTGACCTACAAAAAAATGGAAATTTAGTGTTTTTCAGCCTAAGACATTAAATTTCATATCAGAACAAAGCCTGCCCCAGGCTGACCCTCCCCAGCCGTACCGTGGTGAACGGGTTCAGAGGATACGTGGGCTGAAGGCTGGGCCTCGGGAGGGCTGGGGGCTTCCAGAGCCGGGGCAGCTGCAGCTCTCTCTGGTCTCACCTGGAACTTGCCCTGTAGATCCTCCCTGCCCTGCGGCTCCAATCGACCGTG
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ATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTCCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAAGAGTCTAAAAATCCAGTTTGCAACCACTTCTGACCTACAAAAAAATGGAAATTTAGTGTTTTTCAGCCTAAGACATTAAATTTCATATCAGAACAAAGCCTGCCCCAGGCTGACCCTCCCCAGCCGTACCGTGGTGAACGGGTTCAGAGGATACGTGGGCTGAAGGCTGGGCCTCGGGAGGGCTGGGGGCTTCCAGAGCCGGGGCAGCTGCAGCTCTCTCTGGTCTCACCTGGAACTTGCCCTGTAGATCCTCCCTGCCCTGCGGCTCCAATCGACCGTG
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50,083 core variant entries from GPN-MSA study using ClinVar pathogenic variants and gnomAD benign variants (MAF>5%), split by chromosome (Chr 1-7,9-22,X,Y for train, Chr 8 for test) for pathogenic/benign classification.
from datasets import load_dataset
dataset = load_dataset("wanglab/variant_effect_coding")
example = dataset["train"][0]
print(example)
@misc{fallahpour2025bioreasonincentivizingmultimodalbiological,
title={BioReason: Incentivizing Multimodal Biological Reasoning within a DNA-LLM Model},
author={Adibvafa Fallahpour and Andrew Magnuson and Purav Gupta and Shihao Ma and Jack Naimer and Arnav Shah and Haonan Duan and Omar Ibrahim and Hani Goodarzi and Chris J. Maddison and Bo Wang},
year={2025},
eprint={2505.23579},
archivePrefix={arXiv},
primaryClass={cs.LG},
url={https://arxiv.org/abs/2505.23579},
}