BioReason
Collection
BioReason: Incentivizing Multimodal Biological Reasoning within a DNA-LLM Model
•
3 items
•
Updated
•
7
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 | 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. | Pathogenic; Renal tubular epithelial cell apoptosis | TGGAGGCCAGGGGGGCCAGTAGGGAGTTGGGGAGATGGGACTGGGGAGGGAGAGCAGGGGGACATGGGGGGCTGCACAGTGACAGGCCGCCTCCAAGCTCCCTGCCTGGGGCTGTGCCCGGCTCTCAGACTTGCGGTTTGGGGTTCCAGGTCTCCTCTGCCAGGGAAGGTTCGCCCGAACCCTGGCTGCCTCTGACAGGTGAGTAAGGATCCTGCCTCCTGAGGTGAGTGCCTGTTGCCTCCCACAGGCTGACACATCTCTGCCTTCCCTACCAGATGGTCGGTCCCCCAGGAGGAGCCGGGACCCCGGCTACGACCACCTCTGGGACGAGACTTTGTCTTCCTCCCACCAGAAGTGCCCCCAGCTTGGAGGGCCTGAGGCCAGTGGGGGGCTTGTGCAGTGGATCTGATGGCCGCGGTGAGGTGGGTTCTCAGGACCACCCTCGCCAAGCTCCAGGGTACCTGCCCCTCTAACCCACTTCAAATTACAAGTCAGGGTCTGAACCCAGTGTGATGGGGGGAGTCTCTGGGGCCCTGAGTTCAGAGCCCGTCCCTCAGCTCCTGTTCCTTGGTGCCAGCAGCTGGGGCAGGGAAGGGTGGGAGGGGCCCCATCCAAAGGATGCCCTGGCCAGCGAGGCTGGGTCACAGGTCAGGGAGGTCCTGGCCGTCCACAGGGTCGGCCCTCAGCTCAGCCCGCCAGGAGTCAGGGAGGAGACTCGCTGGGAGTGGGAGGGCAGCACGGGCGTGAAGGTCGGAGGACAGAGAAAGGTCAGCAGGGTCAGAGTATGTGAGGTCAGAGGGCATGAGGGTCACAGGTCAGCAAGGTGTGAGGAGCACAAGCCAGGGTGCCCCGAGGAGGAGGGTGGGTGGGTCCTTGTGTGGCCTGGCGCGCACCACAGGGCAGCACGGGAGACGTTGACACCACCGGACGAGAAAGAAAAAAGAGAGAAGAGAGAGAGGAGAAGAGAGAAAAGAAGAGAAGAGAGAAGAGAAGAGAAGGAAAGAGAGAGAGAGAATAAGAAAAGGAAGAAAGAAAAAGAAAAGATAGAATTTTATTGGTGCTGCATCCATGTGTTCTCTGCTCAGCAGCCAGGGTCTCCCACAGTCTTGAGGACCCCCACCCAGCACCCAGCCAGGCAGCCCCCTTCCTCTGCCACCTCGGGCCCCTCACCGACCTTCCCACCTCATCTCTGACTCCTCTTGGCTGTGGGTCCCCAGCTGCCCCACAGGAGCCCCCGGGACAACCCCAGGAGCCCAGCCCTCCATCTGAGGCCACCGAATTCTCCCTCTGCACCTGCACCCAGGGCTCCCGGGGAGGGGCTCGCGGCTCTGCCACAGACCCCCACCCTGCAGGGGCTGCTGCACTGGGGAGGGGCAGGCAGAGCCTTCGCTGTCTCAGGCCAGAGCCCGCAGAGGCCTTGGCCACAGTCCTTTGAGGATCAAGAGTGATGGGCCTTGGAGCCCTTGCCAGCCCAGCCCACCTGTGAGGAGGCTGCCCATCCCCTCTTTGAGGCCACCCTGTGTCCTCTCCCCTGCCTCTGCCCAGAGCTCCAGCCGGAGTGTCTTGCTGCTCAGACCCCTCCGAGGTCCAAGTCCTGTCCTGCCACTCAGCTCCCCCTGCACCCCAGAAGAAACGCAGGGTGCGGTTGCATTTGATTTCAGATAAACAACAACTTCTTAGTAAAATGACCTCCCCACTATTGCCTGTCTGAAATTAACCGAATGCCCTGTGTTCTCATCTGTGAATCTGGCCACCCTCCTACCCAGCCACCTGCCTGCCCTCCACCCACCCAGACTTTAGCACCTCCCTCCCAGGCGTGGGGAGTGGCCGTGGTCACTGGCTGGATCCTCAGGTGAGTCGGAGGGAGCAGCACCAGGACACGCCCCCCTCCTGGACGCGGTAGAAGAGAGGGGTCAGAGGGCCCGGGCGAGGGCGGCACCTCGTCCTGCCCTGGGCGCCTGTGGTCGTCTCCTCATCCTGCATCTCCCTGGCCCGGGCCTGGCTCCTAGGAGCTGGGGCTGGGGCTGTGGCTGCGGCGCCCTTGCCCCACCTGCCGGCGGAAGTAGCGGATGGCAGAGATGGTGCCGACGTTGGCCAGCAAGGCTGCAAGAGAAGCACAGGCTCTTCTGAGGGCCAGCCTGGCTGTCGGCACCGTCTGCCCGCAAGACCCAGCCCTCAAAGGGCGGGCAAGGTCGGTGCGGCCAGGGCCGCAGCTCAGCCTGGGGGGAGCAGGTCAGGGGTGAGCCCCGGGGCCCCCGTGCACCCCTCGTCCTGCCAGCGCCCCTCGGTCTGGCTTCTAGGCGCAGCTCCCTCTGCCCCCAGGCACCCAAACCTGTTTTCCAGGCGTCTGGGGTATGCGGATCTGACGTCCTCACAGCCCAGGTGGCAAAAGCTACAAACACCAGGCACATGTCATTCTGGCTGAAGGCAAATGATGGGACAGGCCCCCGGAGCTCCCCTAGGACAGAAGCTCACCTTCAGCCCCACGGCTGCACTCAGAGATGGCCCCGCACACGCCCGCCCCGGGAACCGCCTGCCCCCACCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCACCCCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCAGGAACCGCCTCCCAACCCCCCCCAACCCCAGGAACCGCCTCCCAACCCCCCCCAACCCCAGGAACTGCCTGCCCCGGGAGCCGCTTCCCCCGCAACCCCGGGAACCACCTGCCCCGCACACGGCCGCCCCGGGAACCGCCTGCCTCCCCCTCCAACCCCAGGAACCGCCTGCCCCACCCTAACCCTGCACACTCTTGGCCTGGGAACTGCCTGCCCCGCACACGCCCGCCCCGGGAACCGCCTGCCCCAGATACATCCAT | TGGAGGCCAGGGGGGCCAGTAGGGAGTTGGGGAGATGGGACTGGGGAGGGAGAGCAGGGGGACATGGGGGGCTGCACAGTGACAGGCCGCCTCCAAGCTCCCTGCCTGGGGCTGTGCCCGGCTCTCAGACTTGCGGTTTGGGGTTCCAGGTCTCCTCTGCCAGGGAAGGTTCGCCCGAACCCTGGCTGCCTCTGACAGGTGAGTAAGGATCCTGCCTCCTGAGGTGAGTGCCTGTTGCCTCCCACAGGCTGACACATCTCTGCCTTCCCTACCAGATGGTCGGTCCCCCAGGAGGAGCCGGGACCCCGGCTACGACCACCTCTGGGACGAGACTTTGTCTTCCTCCCACCAGAAGTGCCCCCAGCTTGGAGGGCCTGAGGCCAGTGGGGGGCTTGTGCAGTGGATCTGATGGCCGCGGTGAGGTGGGTTCTCAGGACCACCCTCGCCAAGCTCCAGGGTACCTGCCCCTCTAACCCACTTCAAATTACAAGTCAGGGTCTGAACCCAGTGTGATGGGGGGAGTCTCTGGGGCCCTGAGTTCAGAGCCCGTCCCTCAGCTCCTGTTCCTTGGTGCCAGCAGCTGGGGCAGGGAAGGGTGGGAGGGGCCCCATCCAAAGGATGCCCTGGCCAGCGAGGCTGGGTCACAGGTCAGGGAGGTCCTGGCCGTCCACAGGGTCGGCCCTCAGCTCAGCCCGCCAGGAGTCAGGGAGGAGACTCGCTGGGAGTGGGAGGGCAGCACGGGCGTGAAGGTCGGAGGACAGAGAAAGGTCAGCAGGGTCAGAGTATGTGAGGTCAGAGGGCATGAGGGTCACAGGTCAGCAAGGTGTGAGGAGCACAAGCCAGGGTGCCCCGAGGAGGAGGGTGGGTGGGTCCTTGTGTGGCCTGGCGCGCACCACAGGGCAGCACGGGAGACGTTGACACCACCGGACGAGAAAGAAAAAAGAGAGAAGAGAGAGAGGAGAAGAGAGAAAAGAAGAGAAGAGAGAAGAGAAGAGAAGGAAAGAGAGAGAGAGAATAAGAAAAGGAAGAAAGAAAAAGAAAAGATAGAATTTTATTGGTGCTGCATCCATGTGTTCTCTGCTCAGCAGCCAGGGTCTCCCACAGTCTTGAGGACCCCCACCCAGCACCCAGCCAGGCAGCCCCCTTCCTCTGCCACCTCGGGCCCCTCACCGACCTTCCCACCTCATCTCTGACTCCTCTTGGCTGTGGGTCCCCAGCTGCCCCACAGGAGCCCCCGGGACAACCCCAGGAGCCCAGCCCTCCATCTGAGGCCACCGAATTCTCCCTCTGCACCTGCACCCAGGGCTCCCGGGGAGGGGCTCGCGGCTCTGCCACAGACCCCCACCCTGCAGGGGCTGCTGCACTGGGGAGGGGCAGGCAGAGCCTTCGCTGTCTCAGGCCAGAGCCCGCAGAGGCCTTGGCCACAGTCCTTTGAGGATCAAGAGTGATGGGCCTTGGAGCCCTTGCCAGCCCAGCCCACCTGTGAGGAGGCTGCCCATCCCCTCTTTGAGGCCACCCTGTGTCCTCTCCCCTGCCTCTGCCCAGAGCTCCAGCCGGAGTGTCTTGCTGCTCAGACCCCTCCGAGGTCCAAGTCCTGTCCTGCCACTCAGCTCCCCCTGCACCCCAGAAGAAACGCAGGGTGCGGTTGCATTTGATTTCAGATAAACAACAACTTCTTAGTAAAATGACCTCCCCACTATTGCCTGTCTGAAATTAACCGAATGCCCTGTGTTCTCATCTGTGAATCTGGCCACCCTCCTACCCAGCCACCTGCCTGCCCTCCACCCACCCAGACTTTAGCACCTCCCTCCCAGGCGTGGGGAGTGGCCGTGGTCACTGGCTGGATCCTCAGGTGAGTCGGAGGGAGCAGCACCAGGACACGCCCCCCTCCTGGACGCGGTAGAAGAGAGGGGTCAGAGGGCCCGGGCGAGGGCGGCACCTCGTCCTGCCCTGGGCGCCTGTGGTCGTCTCCTCATCCTGCATCTCCCTGGCCCGGGCCTGGCTCCTAGGAGCTGGGGCTGGGGCTGTGGCTGCGGCGCCCTTGCCCCGCCTGCCGGCGGAAGTAGCGGATGGCAGAGATGGTGCCGACGTTGGCCAGCAAGGCTGCAAGAGAAGCACAGGCTCTTCTGAGGGCCAGCCTGGCTGTCGGCACCGTCTGCCCGCAAGACCCAGCCCTCAAAGGGCGGGCAAGGTCGGTGCGGCCAGGGCCGCAGCTCAGCCTGGGGGGAGCAGGTCAGGGGTGAGCCCCGGGGCCCCCGTGCACCCCTCGTCCTGCCAGCGCCCCTCGGTCTGGCTTCTAGGCGCAGCTCCCTCTGCCCCCAGGCACCCAAACCTGTTTTCCAGGCGTCTGGGGTATGCGGATCTGACGTCCTCACAGCCCAGGTGGCAAAAGCTACAAACACCAGGCACATGTCATTCTGGCTGAAGGCAAATGATGGGACAGGCCCCCGGAGCTCCCCTAGGACAGAAGCTCACCTTCAGCCCCACGGCTGCACTCAGAGATGGCCCCGCACACGCCCGCCCCGGGAACCGCCTGCCCCCACCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCACCCCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCAGGAACCGCCTCCCAACCCCCCCCAACCCCAGGAACCGCCTCCCAACCCCCCCCAACCCCAGGAACTGCCTGCCCCGGGAGCCGCTTCCCCCGCAACCCCGGGAACCACCTGCCCCGCACACGGCCGCCCCGGGAACCGCCTGCCTCCCCCTCCAACCCCAGGAACCGCCTGCCCCACCCTAACCCTGCACACTCTTGGCCTGGGAACTGCCTGCCCCGCACACGCCCGCCCCGGGAACCGCCTGCCCCAGATACATCCAT |
Task1_train_1 | 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? | Pathogenic; Neutrophil inclusion bodies | TGGAGGCCAGGGGGGCCAGTAGGGAGTTGGGGAGATGGGACTGGGGAGGGAGAGCAGGGGGACATGGGGGGCTGCACAGTGACAGGCCGCCTCCAAGCTCCCTGCCTGGGGCTGTGCCCGGCTCTCAGACTTGCGGTTTGGGGTTCCAGGTCTCCTCTGCCAGGGAAGGTTCGCCCGAACCCTGGCTGCCTCTGACAGGTGAGTAAGGATCCTGCCTCCTGAGGTGAGTGCCTGTTGCCTCCCACAGGCTGACACATCTCTGCCTTCCCTACCAGATGGTCGGTCCCCCAGGAGGAGCCGGGACCCCGGCTACGACCACCTCTGGGACGAGACTTTGTCTTCCTCCCACCAGAAGTGCCCCCAGCTTGGAGGGCCTGAGGCCAGTGGGGGGCTTGTGCAGTGGATCTGATGGCCGCGGTGAGGTGGGTTCTCAGGACCACCCTCGCCAAGCTCCAGGGTACCTGCCCCTCTAACCCACTTCAAATTACAAGTCAGGGTCTGAACCCAGTGTGATGGGGGGAGTCTCTGGGGCCCTGAGTTCAGAGCCCGTCCCTCAGCTCCTGTTCCTTGGTGCCAGCAGCTGGGGCAGGGAAGGGTGGGAGGGGCCCCATCCAAAGGATGCCCTGGCCAGCGAGGCTGGGTCACAGGTCAGGGAGGTCCTGGCCGTCCACAGGGTCGGCCCTCAGCTCAGCCCGCCAGGAGTCAGGGAGGAGACTCGCTGGGAGTGGGAGGGCAGCACGGGCGTGAAGGTCGGAGGACAGAGAAAGGTCAGCAGGGTCAGAGTATGTGAGGTCAGAGGGCATGAGGGTCACAGGTCAGCAAGGTGTGAGGAGCACAAGCCAGGGTGCCCCGAGGAGGAGGGTGGGTGGGTCCTTGTGTGGCCTGGCGCGCACCACAGGGCAGCACGGGAGACGTTGACACCACCGGACGAGAAAGAAAAAAGAGAGAAGAGAGAGAGGAGAAGAGAGAAAAGAAGAGAAGAGAGAAGAGAAGAGAAGGAAAGAGAGAGAGAGAATAAGAAAAGGAAGAAAGAAAAAGAAAAGATAGAATTTTATTGGTGCTGCATCCATGTGTTCTCTGCTCAGCAGCCAGGGTCTCCCACAGTCTTGAGGACCCCCACCCAGCACCCAGCCAGGCAGCCCCCTTCCTCTGCCACCTCGGGCCCCTCACCGACCTTCCCACCTCATCTCTGACTCCTCTTGGCTGTGGGTCCCCAGCTGCCCCACAGGAGCCCCCGGGACAACCCCAGGAGCCCAGCCCTCCATCTGAGGCCACCGAATTCTCCCTCTGCACCTGCACCCAGGGCTCCCGGGGAGGGGCTCGCGGCTCTGCCACAGACCCCCACCCTGCAGGGGCTGCTGCACTGGGGAGGGGCAGGCAGAGCCTTCGCTGTCTCAGGCCAGAGCCCGCAGAGGCCTTGGCCACAGTCCTTTGAGGATCAAGAGTGATGGGCCTTGGAGCCCTTGCCAGCCCAGCCCACCTGTGAGGAGGCTGCCCATCCCCTCTTTGAGGCCACCCTGTGTCCTCTCCCCTGCCTCTGCCCAGAGCTCCAGCCGGAGTGTCTTGCTGCTCAGACCCCTCCGAGGTCCAAGTCCTGTCCTGCCACTCAGCTCCCCCTGCACCCCAGAAGAAACGCAGGGTGCGGTTGCATTTGATTTCAGATAAACAACAACTTCTTAGTAAAATGACCTCCCCACTATTGCCTGTCTGAAATTAACCGAATGCCCTGTGTTCTCATCTGTGAATCTGGCCACCCTCCTACCCAGCCACCTGCCTGCCCTCCACCCACCCAGACTTTAGCACCTCCCTCCCAGGCGTGGGGAGTGGCCGTGGTCACTGGCTGGATCCTCAGGTGAGTCGGAGGGAGCAGCACCAGGACACGCCCCCCTCCTGGACGCGGTAGAAGAGAGGGGTCAGAGGGCCCGGGCGAGGGCGGCACCTCGTCCTGCCCTGGGCGCCTGTGGTCGTCTCCTCATCCTGCATCTCCCTGGCCCGGGCCTGGCTCCTAGGAGCTGGGGCTGGGGCTGTGGCTGCGGCGCCCTTGCCCCACCTGCCGGCGGAAGTAGCGGATGGCAGAGATGGTGCCGACGTTGGCCAGCAAGGCTGCAAGAGAAGCACAGGCTCTTCTGAGGGCCAGCCTGGCTGTCGGCACCGTCTGCCCGCAAGACCCAGCCCTCAAAGGGCGGGCAAGGTCGGTGCGGCCAGGGCCGCAGCTCAGCCTGGGGGGAGCAGGTCAGGGGTGAGCCCCGGGGCCCCCGTGCACCCCTCGTCCTGCCAGCGCCCCTCGGTCTGGCTTCTAGGCGCAGCTCCCTCTGCCCCCAGGCACCCAAACCTGTTTTCCAGGCGTCTGGGGTATGCGGATCTGACGTCCTCACAGCCCAGGTGGCAAAAGCTACAAACACCAGGCACATGTCATTCTGGCTGAAGGCAAATGATGGGACAGGCCCCCGGAGCTCCCCTAGGACAGAAGCTCACCTTCAGCCCCACGGCTGCACTCAGAGATGGCCCCGCACACGCCCGCCCCGGGAACCGCCTGCCCCCACCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCACCCCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCAGGAACCGCCTCCCAACCCCCCCCAACCCCAGGAACCGCCTCCCAACCCCCCCCAACCCCAGGAACTGCCTGCCCCGGGAGCCGCTTCCCCCGCAACCCCGGGAACCACCTGCCCCGCACACGGCCGCCCCGGGAACCGCCTGCCTCCCCCTCCAACCCCAGGAACCGCCTGCCCCACCCTAACCCTGCACACTCTTGGCCTGGGAACTGCCTGCCCCGCACACGCCCGCCCCGGGAACCGCCTGCCCCAGATACATCCAT | TGGAGGCCAGGGGGGCCAGTAGGGAGTTGGGGAGATGGGACTGGGGAGGGAGAGCAGGGGGACATGGGGGGCTGCACAGTGACAGGCCGCCTCCAAGCTCCCTGCCTGGGGCTGTGCCCGGCTCTCAGACTTGCGGTTTGGGGTTCCAGGTCTCCTCTGCCAGGGAAGGTTCGCCCGAACCCTGGCTGCCTCTGACAGGTGAGTAAGGATCCTGCCTCCTGAGGTGAGTGCCTGTTGCCTCCCACAGGCTGACACATCTCTGCCTTCCCTACCAGATGGTCGGTCCCCCAGGAGGAGCCGGGACCCCGGCTACGACCACCTCTGGGACGAGACTTTGTCTTCCTCCCACCAGAAGTGCCCCCAGCTTGGAGGGCCTGAGGCCAGTGGGGGGCTTGTGCAGTGGATCTGATGGCCGCGGTGAGGTGGGTTCTCAGGACCACCCTCGCCAAGCTCCAGGGTACCTGCCCCTCTAACCCACTTCAAATTACAAGTCAGGGTCTGAACCCAGTGTGATGGGGGGAGTCTCTGGGGCCCTGAGTTCAGAGCCCGTCCCTCAGCTCCTGTTCCTTGGTGCCAGCAGCTGGGGCAGGGAAGGGTGGGAGGGGCCCCATCCAAAGGATGCCCTGGCCAGCGAGGCTGGGTCACAGGTCAGGGAGGTCCTGGCCGTCCACAGGGTCGGCCCTCAGCTCAGCCCGCCAGGAGTCAGGGAGGAGACTCGCTGGGAGTGGGAGGGCAGCACGGGCGTGAAGGTCGGAGGACAGAGAAAGGTCAGCAGGGTCAGAGTATGTGAGGTCAGAGGGCATGAGGGTCACAGGTCAGCAAGGTGTGAGGAGCACAAGCCAGGGTGCCCCGAGGAGGAGGGTGGGTGGGTCCTTGTGTGGCCTGGCGCGCACCACAGGGCAGCACGGGAGACGTTGACACCACCGGACGAGAAAGAAAAAAGAGAGAAGAGAGAGAGGAGAAGAGAGAAAAGAAGAGAAGAGAGAAGAGAAGAGAAGGAAAGAGAGAGAGAGAATAAGAAAAGGAAGAAAGAAAAAGAAAAGATAGAATTTTATTGGTGCTGCATCCATGTGTTCTCTGCTCAGCAGCCAGGGTCTCCCACAGTCTTGAGGACCCCCACCCAGCACCCAGCCAGGCAGCCCCCTTCCTCTGCCACCTCGGGCCCCTCACCGACCTTCCCACCTCATCTCTGACTCCTCTTGGCTGTGGGTCCCCAGCTGCCCCACAGGAGCCCCCGGGACAACCCCAGGAGCCCAGCCCTCCATCTGAGGCCACCGAATTCTCCCTCTGCACCTGCACCCAGGGCTCCCGGGGAGGGGCTCGCGGCTCTGCCACAGACCCCCACCCTGCAGGGGCTGCTGCACTGGGGAGGGGCAGGCAGAGCCTTCGCTGTCTCAGGCCAGAGCCCGCAGAGGCCTTGGCCACAGTCCTTTGAGGATCAAGAGTGATGGGCCTTGGAGCCCTTGCCAGCCCAGCCCACCTGTGAGGAGGCTGCCCATCCCCTCTTTGAGGCCACCCTGTGTCCTCTCCCCTGCCTCTGCCCAGAGCTCCAGCCGGAGTGTCTTGCTGCTCAGACCCCTCCGAGGTCCAAGTCCTGTCCTGCCACTCAGCTCCCCCTGCACCCCAGAAGAAACGCAGGGTGCGGTTGCATTTGATTTCAGATAAACAACAACTTCTTAGTAAAATGACCTCCCCACTATTGCCTGTCTGAAATTAACCGAATGCCCTGTGTTCTCATCTGTGAATCTGGCCACCCTCCTACCCAGCCACCTGCCTGCCCTCCACCCACCCAGACTTTAGCACCTCCCTCCCAGGCGTGGGGAGTGGCCGTGGTCACTGGCTGGATCCTCAGGTGAGTCGGAGGGAGCAGCACCAGGACACGCCCCCCTCCTGGACGCGGTAGAAGAGAGGGGTCAGAGGGCCCGGGCGAGGGCGGCACCTCGTCCTGCCCTGGGCGCCTGTGGTCGTCTCCTCATCCTGCATCTCCCTGGCCCGGGCCTGGCTCCTAGGAGCTGGGGCTGGGGCTGTGGCTGCGGCGCCCTTGCCCCGCCTGCCGGCGGAAGTAGCGGATGGCAGAGATGGTGCCGACGTTGGCCAGCAAGGCTGCAAGAGAAGCACAGGCTCTTCTGAGGGCCAGCCTGGCTGTCGGCACCGTCTGCCCGCAAGACCCAGCCCTCAAAGGGCGGGCAAGGTCGGTGCGGCCAGGGCCGCAGCTCAGCCTGGGGGGAGCAGGTCAGGGGTGAGCCCCGGGGCCCCCGTGCACCCCTCGTCCTGCCAGCGCCCCTCGGTCTGGCTTCTAGGCGCAGCTCCCTCTGCCCCCAGGCACCCAAACCTGTTTTCCAGGCGTCTGGGGTATGCGGATCTGACGTCCTCACAGCCCAGGTGGCAAAAGCTACAAACACCAGGCACATGTCATTCTGGCTGAAGGCAAATGATGGGACAGGCCCCCGGAGCTCCCCTAGGACAGAAGCTCACCTTCAGCCCCACGGCTGCACTCAGAGATGGCCCCGCACACGCCCGCCCCGGGAACCGCCTGCCCCCACCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCACCCCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCAGGAACCGCCTCCCAACCCCCCCCAACCCCAGGAACCGCCTCCCAACCCCCCCCAACCCCAGGAACTGCCTGCCCCGGGAGCCGCTTCCCCCGCAACCCCGGGAACCACCTGCCCCGCACACGGCCGCCCCGGGAACCGCCTGCCTCCCCCTCCAACCCCAGGAACCGCCTGCCCCACCCTAACCCTGCACACTCTTGGCCTGGGAACTGCCTGCCCCGCACACGCCCGCCCCGGGAACCGCCTGCCCCAGATACATCCAT |
Task1_train_2 | Gene AGRN (agrin) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Congenital myasthenic syndrome 8 | AGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGGTGAGTGCTCTGGGCCGCGAGGGGACTCCCGCTGCTGCCTGCTCTTCCTCCTCGGGCGGCAGCCCCGCCCCTGCCGGCGCTCACGGAGCTGTTTTTCTGTCCTGTTCTCTTGGCCGCCTGCCCTGTCCTCTGCCTCCTCTGCCTCCCTGCTCTCTGCTCTCGCTCTGCAACCCCACCCGCTCTTCGGAGGCCAGAAATCCCGCAAGGTACTGTCGGCCTCTCATCCGCTCACCGTCTCTGGCGCCTCAACCCCTAGGGTAGCTCCTCCCCCACTAAGGACCCTGCCATTTCTGTGTGATTAACGCTGCCCCCTAGATAGGCAATGGGCGGGTGGGGCGGGTGCGTGCAGGTGCCTGGGCCCTGGGTCTGCACCGTGGGTGGGCTCTGCACAGCCACTTACCTGGCGTCCCCGCAGGTTCCGCACACCGTCCTCAACCTGAAGGAGCCGCTCTACGTAGGGGGCGCTCCCGACTTCAGCAAGCTGGCCCGTGCTGCTGCCGTGTCCTCTGGCTTCGACGGTGCCATCCAGCTGGTATGTGGGGGCGGGGCGTCCCAGCAGGGCCTCCGGGGCGGGCGGGGTGGCAGGCGGGACAAGGCCCTCACCCTGCCCTGCAGGTCTCCCTCGGAGGCCGCCAGCTGCTGACCCCGGAGCACGTGCTGCGGCAGGTGGACGTCACGTCCTTTGCAGGTCACCCCTGCACCCGGGCCTCAGGCCACCCCTGCCTCAATGGGGCCTCCTGCGTCCCGAGGGAGGCTGCCTATGTGTGCCTGTGTCCCGGGGGATTCTCAGGACCGCACTGCGAGAAGGGTGAGCCTGGCACAGGGCAGGGGGCGGAGGCCGGATGGGCCCGGAGCCCACGAGGCCCCACCCTCACCTGCCTATCTCACAGGGCTGGTGGAGAAGTCAGCGGGGGACGTGGATACCTTGGCCTTTGACGGGCGGACCTTTGTCGAGTACCTCAACGCTGTGACCGAGAGGTAACGTGCCATCCTCTGCTGGCTGTCGGTTCCATCTGTGCCCTCGGGGCGGGACACCGGACCCCCACACCAGGAGGGCCCAGGAGGGGACGGCCCGGTGCTGCCACCTCTGTCCTCCCGCCTCTCTCTCACCTCCCGGTCCTCCCGCCTCTCACTGTCTGTCTCTTTGTTTCCAAGCGAACTGGCCAATGAGATCCCCGTGTGAGTAGAGCTCGGCGCCCCCCGCTCCCTCTCACTCCCACTCCTCCATCCTTCCTGGTGGGGAGCAGAGTCCGGAGCCCCCGGGGAACTTTCCATCCCTTGTGGCGGAGGATGGGGGTCCGGCGCTATTTGGCTGCAAGAGGCCGTTTCCTGCCTCAGAAGTGCAGTCGCCCCTCCCAGGGCACAGGCCGAGGGTCGCCCCACAGCCAACCCCCACCACTGAGGCTGTACACACCTGTGCGCATATGCATGCATGTCTGTGTCCGTGTGCACTTCCGCGTGTGTGAACATGCAGCTGTGTCTGTGCGTGTCTATGTATATGGAGTGGATGTGCAAGTGTGTGTGAATATCCAGCTGTGTGTGTGCATGGGTCCATGTATATGTGTGTGTGTATATGTGGGGGGGACATGTAGATATGCGTGTGTGACTATGCGGCCGTGTGTGTGCATGGCTCCATGTATGTGTGTGTATATGAGGGAG | AGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCATGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGGTGAGTGCTCTGGGCCGCGAGGGGACTCCCGCTGCTGCCTGCTCTTCCTCCTCGGGCGGCAGCCCCGCCCCTGCCGGCGCTCACGGAGCTGTTTTTCTGTCCTGTTCTCTTGGCCGCCTGCCCTGTCCTCTGCCTCCTCTGCCTCCCTGCTCTCTGCTCTCGCTCTGCAACCCCACCCGCTCTTCGGAGGCCAGAAATCCCGCAAGGTACTGTCGGCCTCTCATCCGCTCACCGTCTCTGGCGCCTCAACCCCTAGGGTAGCTCCTCCCCCACTAAGGACCCTGCCATTTCTGTGTGATTAACGCTGCCCCCTAGATAGGCAATGGGCGGGTGGGGCGGGTGCGTGCAGGTGCCTGGGCCCTGGGTCTGCACCGTGGGTGGGCTCTGCACAGCCACTTACCTGGCGTCCCCGCAGGTTCCGCACACCGTCCTCAACCTGAAGGAGCCGCTCTACGTAGGGGGCGCTCCCGACTTCAGCAAGCTGGCCCGTGCTGCTGCCGTGTCCTCTGGCTTCGACGGTGCCATCCAGCTGGTATGTGGGGGCGGGGCGTCCCAGCAGGGCCTCCGGGGCGGGCGGGGTGGCAGGCGGGACAAGGCCCTCACCCTGCCCTGCAGGTCTCCCTCGGAGGCCGCCAGCTGCTGACCCCGGAGCACGTGCTGCGGCAGGTGGACGTCACGTCCTTTGCAGGTCACCCCTGCACCCGGGCCTCAGGCCACCCCTGCCTCAATGGGGCCTCCTGCGTCCCGAGGGAGGCTGCCTATGTGTGCCTGTGTCCCGGGGGATTCTCAGGACCGCACTGCGAGAAGGGTGAGCCTGGCACAGGGCAGGGGGCGGAGGCCGGATGGGCCCGGAGCCCACGAGGCCCCACCCTCACCTGCCTATCTCACAGGGCTGGTGGAGAAGTCAGCGGGGGACGTGGATACCTTGGCCTTTGACGGGCGGACCTTTGTCGAGTACCTCAACGCTGTGACCGAGAGGTAACGTGCCATCCTCTGCTGGCTGTCGGTTCCATCTGTGCCCTCGGGGCGGGACACCGGACCCCCACACCAGGAGGGCCCAGGAGGGGACGGCCCGGTGCTGCCACCTCTGTCCTCCCGCCTCTCTCTCACCTCCCGGTCCTCCCGCCTCTCACTGTCTGTCTCTTTGTTTCCAAGCGAACTGGCCAATGAGATCCCCGTGTGAGTAGAGCTCGGCGCCCCCCGCTCCCTCTCACTCCCACTCCTCCATCCTTCCTGGTGGGGAGCAGAGTCCGGAGCCCCCGGGGAACTTTCCATCCCTTGTGGCGGAGGATGGGGGTCCGGCGCTATTTGGCTGCAAGAGGCCGTTTCCTGCCTCAGAAGTGCAGTCGCCCCTCCCAGGGCACAGGCCGAGGGTCGCCCCACAGCCAACCCCCACCACTGAGGCTGTACACACCTGTGCGCATATGCATGCATGTCTGTGTCCGTGTGCACTTCCGCGTGTGTGAACATGCAGCTGTGTCTGTGCGTGTCTATGTATATGGAGTGGATGTGCAAGTGTGTGTGAATATCCAGCTGTGTGTGTGCATGGGTCCATGTATATGTGTGTGTGTATATGTGGGGGGGACATGTAGATATGCGTGTGTGACTATGCGGCCGTGTGTGTGCATGGCTCCATGTATGTGTGTGTATATGAGGGAG |
Task1_train_3 | 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. | Pathogenic; Congenital myasthenic syndrome 8 | TTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGGTGAGTGCTCTGGGCCGCGAGGGGACTCCCGCTGCTGCCTGCTCTTCCTCCTCGGGCGGCAGCCCCGCCCCTGCCGGCGCTCACGGAGCTGTTTTTCTGTCCTGTTCTCTTGGCCGCCTGCCCTGTCCTCTGCCTCCTCTGCCTCCCTGCTCTCTGCTCTCGCTCTGCAACCCCACCCGCTCTTCGGAGGCCAGAAATCCCGCAAGGTACTGTCGGCCTCTCATCCGCTCACCGTCTCTGGCGCCTCAACCCCTAGGGTAGCTCCTCCCCCACTAAGGACCCTGCCATTTCTGTGTGATTAACGCTGCCCCCTAGATAGGCAATGGGCGGGTGGGGCGGGTGCGTGCAGGTGCCTGGGCCCTGGGTCTGCACCGTGGGTGGGCTCTGCACAGCCACTTACCTGGCGTCCCCGCAGGTTCCGCACACCGTCCTCAACCTGAAGGAGCCGCTCTACGTAGGGGGCGCTCCCGACTTCAGCAAGCTGGCCCGTGCTGCTGCCGTGTCCTCTGGCTTCGACGGTGCCATCCAGCTGGTATGTGGGGGCGGGGCGTCCCAGCAGGGCCTCCGGGGCGGGCGGGGTGGCAGGCGGGACAAGGCCCTCACCCTGCCCTGCAGGTCTCCCTCGGAGGCCGCCAGCTGCTGACCCCGGAGCACGTGCTGCGGCAGGTGGACGTCACGTCCTTTGCAGGTCACCCCTGCACCCGGGCCTCAGGCCACCCCTGCCTCAATGGGGCCTCCTGCGTCCCGAGGGAGGCTGCCTATGTGTGCCTGTGTCCCGGGGGATTCTCAGGACCGCACTGCGAGAAGGGTGAGCCTGGCACAGGGCAGGGGGCGGAGGCCGGATGGGCCCGGAGCCCACGAGGCCCCACCCTCACCTGCCTATCTCACAGGGCTGGTGGAGAAGTCAGCGGGGGACGTGGATACCTTGGCCTTTGACGGGCGGACCTTTGTCGAGTACCTCAACGCTGTGACCGAGAGGTAACGTGCCATCCTCTGCTGGCTGTCGGTTCCATCTGTGCCCTCGGGGCGGGACACCGGACCCCCACACCAGGAGGGCCCAGGAGGGGACGGCCCGGTGCTGCCACCTCTGTCCTCCCGCCTCTCTCTCACCTCCCGGTCCTCCCGCCTCTCACTGTCTGTCTCTTTGTTTCCAAGCGAACTGGCCAATGAGATCCCCGTGTGAGTAGAGCTCGGCGCCCCCCGCTCCCTCTCACTCCCACTCCTCCATCCTTCCTGGTGGGGAGCAGAGTCCGGAGCCCCCGGGGAACTTTCCATCCCTTGTGGCGGAGGATGGGGGTCCGGCGCTATTTGGCTGCAAGAGGCCGTTTCCTGCCTCAGAAGTGCAGTCGCCCCTCCCAGGGCACAGGCCGAGGGTCGCCCCACAGCCAACCCCCACCACTGAGGCTGTACACACCTGTGCGCATATGCATGCATGTCTGTGTCCGTGTGCACTTCCGCGTGTGTGAACATGCAGCTGTGTCTGTGCGTGTCTATGTATATGGAGTGGATGTGCAAGTGTGTGTGAATATCCAGCTGTGTGTGTGCATGGGTCCATGTATATGTGTGTGTGTATATGTGGGGGGGACATGTAGATATGCGTGTGTGACTATGCGGCCGTGTGTGTGCATGGCTCCATGTATGTGTGTGTATATGAGGGAGACATGCAGGTATGTGTCCGTGTGTGTGTGTGTGCATATGGGTCCATGTATGTGTGTGTATATGAGGGAGACACGCAGGTGTGTGTCTGAGTGTGTGCGCACATGGGTCCATGTATGTGTGTGTATA | TTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGCGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGGTGAGTGCTCTGGGCCGCGAGGGGACTCCCGCTGCTGCCTGCTCTTCCTCCTCGGGCGGCAGCCCCGCCCCTGCCGGCGCTCACGGAGCTGTTTTTCTGTCCTGTTCTCTTGGCCGCCTGCCCTGTCCTCTGCCTCCTCTGCCTCCCTGCTCTCTGCTCTCGCTCTGCAACCCCACCCGCTCTTCGGAGGCCAGAAATCCCGCAAGGTACTGTCGGCCTCTCATCCGCTCACCGTCTCTGGCGCCTCAACCCCTAGGGTAGCTCCTCCCCCACTAAGGACCCTGCCATTTCTGTGTGATTAACGCTGCCCCCTAGATAGGCAATGGGCGGGTGGGGCGGGTGCGTGCAGGTGCCTGGGCCCTGGGTCTGCACCGTGGGTGGGCTCTGCACAGCCACTTACCTGGCGTCCCCGCAGGTTCCGCACACCGTCCTCAACCTGAAGGAGCCGCTCTACGTAGGGGGCGCTCCCGACTTCAGCAAGCTGGCCCGTGCTGCTGCCGTGTCCTCTGGCTTCGACGGTGCCATCCAGCTGGTATGTGGGGGCGGGGCGTCCCAGCAGGGCCTCCGGGGCGGGCGGGGTGGCAGGCGGGACAAGGCCCTCACCCTGCCCTGCAGGTCTCCCTCGGAGGCCGCCAGCTGCTGACCCCGGAGCACGTGCTGCGGCAGGTGGACGTCACGTCCTTTGCAGGTCACCCCTGCACCCGGGCCTCAGGCCACCCCTGCCTCAATGGGGCCTCCTGCGTCCCGAGGGAGGCTGCCTATGTGTGCCTGTGTCCCGGGGGATTCTCAGGACCGCACTGCGAGAAGGGTGAGCCTGGCACAGGGCAGGGGGCGGAGGCCGGATGGGCCCGGAGCCCACGAGGCCCCACCCTCACCTGCCTATCTCACAGGGCTGGTGGAGAAGTCAGCGGGGGACGTGGATACCTTGGCCTTTGACGGGCGGACCTTTGTCGAGTACCTCAACGCTGTGACCGAGAGGTAACGTGCCATCCTCTGCTGGCTGTCGGTTCCATCTGTGCCCTCGGGGCGGGACACCGGACCCCCACACCAGGAGGGCCCAGGAGGGGACGGCCCGGTGCTGCCACCTCTGTCCTCCCGCCTCTCTCTCACCTCCCGGTCCTCCCGCCTCTCACTGTCTGTCTCTTTGTTTCCAAGCGAACTGGCCAATGAGATCCCCGTGTGAGTAGAGCTCGGCGCCCCCCGCTCCCTCTCACTCCCACTCCTCCATCCTTCCTGGTGGGGAGCAGAGTCCGGAGCCCCCGGGGAACTTTCCATCCCTTGTGGCGGAGGATGGGGGTCCGGCGCTATTTGGCTGCAAGAGGCCGTTTCCTGCCTCAGAAGTGCAGTCGCCCCTCCCAGGGCACAGGCCGAGGGTCGCCCCACAGCCAACCCCCACCACTGAGGCTGTACACACCTGTGCGCATATGCATGCATGTCTGTGTCCGTGTGCACTTCCGCGTGTGTGAACATGCAGCTGTGTCTGTGCGTGTCTATGTATATGGAGTGGATGTGCAAGTGTGTGTGAATATCCAGCTGTGTGTGTGCATGGGTCCATGTATATGTGTGTGTGTATATGTGGGGGGGACATGTAGATATGCGTGTGTGACTATGCGGCCGTGTGTGTGCATGGCTCCATGTATGTGTGTGTATATGAGGGAGACATGCAGGTATGTGTCCGTGTGTGTGTGTGTGCATATGGGTCCATGTATGTGTGTGTATATGAGGGAGACACGCAGGTGTGTGTCTGAGTGTGTGCGCACATGGGTCCATGTATGTGTGTGTATA |
Task1_train_4 | 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? | Pathogenic; Combined immunodeficiency due to OX40 deficiency | CATGAGGCACTCACCAGGGGGCTTGTGGGCATCGGGGGGCAGCCTCTGGTCCCTCCGGAGCAGGTACAGGGCCAGCAGGATGGCCAGGGGGCCCAGCAGCCCCAGCACCAGGCCCAGGCCCAGGATGGCGGCAACCGCACGGCCTGCAGGAAGGGGTCTGCTGGGTGGGGTCCACAGGAGGGGCCCCCATGCCGCCCTCCCCTTCTCCTATTCGGGTTGGGGGCCCCGCTGGGCTGGGCCAGGCGCCCTTACCCCCGGGGACCTCCACGGGCCGGGTGGAGGGTCCCTGTGAGGTTCTGGGCCAGGCTTCAGTGGGCTGGACAGTGATGGGCCTGGCCGGGGGGCCCTGGGTCTCCTGGGGCTGCGTGGCTGGGGGGTCCCTGTCCTCACAGATTGCGTCCGAGCTATTGCTGGCCGGCTGCAGGGTGTGCTTCCCAGCCAAGGTGCAGCTGTTGGGGAACAGGAGGTGTTGCTCAGGCCAGAAACCCCCTGGGACCCGGGAGATGCGGTGGGGATAACAGGGTCCACGCTGGCCAGCCACAGGCAGCATCTACCACAGACACCAGGCCAGTGACAGCCAAGGACGCTGCCCAGCCCCACGTGCCCCCCACAGGGGCCTCCAAGGCCACACACCCTTCTCCCACATCTACACCCCCCACCAGCACCTCCCTGTCCTGTGCCCCCAGGGCCTCCCAGCTGCGGAGGGTGAGGGTCCCACACACCCAGCTCCACCCACAGGGAAAGGCTGCCCCCAGGCAGCAGCTTCCTGCTCCCCAACCAGGTCCAGCCACATAGCCAGGCCCCCAGGGCCACCAGCACCTCCCCTTCCCCCAAAACTGCCCCCACCCCACCTGCCCCCCCAGCCCCTCCCAGCTCCCCAGCTCCTCCGCCCTCCTAACCACCCCAACCCCCCCCCAGCCCCTCCCAGCCCCTGGCCAGGCCCCTCACTTGGTCCAGGGCTTGCAGGCCTGGTTGTCGCCTGGGGAGAAGTGCCCTGGAGGGCAGGGGGCACAGTCTGCAACAAAGATAGGGTGGTCAGGGGCTGCCCACAGGCCCCGGGTGCTGGGGACATGGGGCAGAGCCTGTGGGGCAGGCACTTGCCCCCCATGGCTGGGTGGTGGGTTTGGCCTCTGGAAGCCCTCCCTGCCCACATCCCACCCGTGGGCCCTGACCCGGGAGCTCGGTCTTGAGGATGCCAGAGGAGGCACCGGTGGGGCCAGGTCCCTGCGGCCCACGGCCCATCTGCGTCACAGACAGCCGCTATGCACACCCCCAACCGCCGGCCGCAGCCACCGAGCTCACCAACTCCAGGCTTGTAGCTGTCCAGGGGCTGGGTGCCCGCCCGGCAGCGGCAGACTGTGTCCTGTGTGGCCGTGCACAGCTGCTTCCGCTCACTCCCACTTCCTGAGCAGGGGCCGGATGGGGGGGTGGTCAGGTGGGGGCTGTGGACAGGGTCCTCAGGAAGCGTGGGCACTGGAGGACAGGTTGGCCTCCCCACCACACAGAGGGCCGTGGGCAGGGGTCTGCGGCCTCCCCTGAGACTTGGAGCCCCTGCAGCCCCCGAGGCTCCTGGGCCCTCCCTTCCTGGCCACAACCTGGGGCTGGTTCCGTGGCAGCCCCAGCCACCCTTCCCTACCCCTCCACCGCCTCCAGCCGCCAGCCCCGCCTGCGGCAGGGTCTCCATGGCCCAACCCCCCAGCCTCACTGCTCAGGCCAGCAAGGCCAGGCCACATGGCCAGCGTGGTCTCCCCGACTCCACGTGGCCTGGGCCGAGTCTGGGCCCCCGGAGGGAGAGGGGGTGCCCCTGGGAGACGCCTCAGCTCCTCGAAGGACCCCTGTGGCGGAGCAGACCCCGCTGTGGTTTGAGGTTCGTTTCTGCGGCTGTGGGAGCCCCATGCTGCTGCGTGGGAATGTGGGTGCCAGGCTGCCGCCCCCTGTGCTGGGTGGGGCTGTGGGGCCAGGTGGGAGCTCACTGAGGTTACACCACGTGCAGGGCTTGCACGGCTTGGAGCTGACCACGTCGTTGTAGAAGCCCGGCCCGCACGGACGGCACACCGTGTTCTGGGAGCGGCTGCAGCGGCTCACCATCCCGTTGCCTGCAGCAGAGGCCGGCGTCAGGCAGCGGTCAGGCCCCAGGCTTGCGCCCGTGGACCCCCCCAGGCGGCTCCTCTGCCAGGCTTGGCCGGCCCCTCACCCGCCCCCTCCCCAGGACCAGCCTCCTGGCTGGCCCATCCCTGCCCCAGCCCCCAGTCCCTGGAGTGCCCGTGCGTGGCGACCCCTCCTGAGGCCTCACCTGGCCTGCACTCGTGGCAGCACCGGTCGTTGCTGGGGTAGGTGTCCCCGACACAGTGGAGCCCCGTCACGGTGCTCAGCCCCAGGCCCAGGAGGAGCAGAGCCGCACACGGCCCGCGGCCCAGCCGCCGAGCCCCCACGCACATCCTCGTCTCTGCTGTCGCCAGAGTCTGGGTTTTCCTTGCGGGGTGTGGCTATAAGGACTGTGGAGGAGGGGAGGGGAGAGGGGAGGAGGGCAGAGGAGGCGGGAGGAGGAAGGTGGCAGGCCGGGGACCCTGGCTGTGGGCTGGGCACAAAGGCGGGGTCTGGGCACCCCCAGCATTGGCTTATTCTGCCTTCTGACCTCTTCTGCCCAAGACCACCGTGTTCAGACCCCAGGGCACAGTAGGGCCTGGCCTGCGGCTCGACCCTCAGCAAAAAGGTCCATGGAGCACGTGGGTAAACTGAGGCAGCACTGAGTCAGGAGAGGCAACTCCTCAGTCTGGACCTTCAGGGCTGTGGCACTGCTGAAGCATGGTCCCCCTTGTATGCCCAAGACTAGCTCTGAGCAGCAGTGACCACAGCCATGGTAAGACAGACACCCATGGCCAGGCACGGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGGCTAACATGGCGAAATCCCGTCTCTACTAAAACTACAAAAATTATTCGGGCGTGGTGGCGGGCGCCGGTAATCCCAGCTAGTCAGGAGGCTGAGGTAGCAGAATCACTCGAACCCAGGAGACAGAAGTTGCAAAGCAGAGGTGGCGCCACTGCACTCCAGCCTGGGCGACAGGGCGAGACTCATCTCAAAAAAAAAAAAAAAGACACCCGTGACCACAGCCCACGCTGAGTGTGCCTGAGCACGGCAGGTGTCTATGGCTGAACTGTGCCCCTTAAATTCCTGCGTGGAAGCCCTAACCCCCATGTGGCAGTGTTTGGAGACAGGCCTCTGAGGAGGTGGTGAGGGTGGGTCCTGGATGGCCTGGCGCACACGGGCACGCAGGCAGGTTTCCACCTTCTATGCAAACAGTTCTCAGGTTCCAGGTTTGCCCAGAGGATGCGAACTGCCCGGAGAGCTGGGGAGCAGGTGCGGGGCTGGGGGCTCCCTGGGCCCTTTCTGCACCTTTCAAATAACTGTGACCAGCCTGTGATTATCCAAAAGTTCATTTTTGAAGTTGCAAGTGGAGAGGGGCCTCTAGGAACAGAGCAGCAGGGAAGGGGCTGGAAATCCCCTCCTCCCAGGAGCACAGGAAACAGCTGCCTGTCCTCGGCCCACCCGTGGGGAAATTCCCAGCCGTGGAGCCCGCTGGCCCTGGAGAGGGAGGGAGTGGAGGGAGAGGCCACCCGCCCTCGGACTGAGGGTCCCTAAGTTGGTCACCCTCCCCACGTCCCCACAAGTAGAGAGGACCCTGGAAGGGCTCAGAGCATCCCAGACAGTGTGTGTACCTGCATGTGCACACCCCAACCCAGGTGGGCAGAGGAGGAAAGTTCTGGCATTTTGTGGAAGGTTCCACCCAGCGTTCACAAGGGTTTCCCACTGACAGTGAGAAAAAGCTTACATTTGCAATTGGTTCCTTGGAGGTTCAGGTGAACTGGGGGTCTTGGTGGGCAACACTGCTCTCCTGGGGCCTAAGTGGCCACATCTGCCCACAGGTGCAGTGAGTGGGGCCCGTGCACCATGGAGAGGGCACCCCCAGCATATTGCTGGCAACTGCAATGGCCCCAGGATGGGGCACGGCCCCTCCTGC | CATGAGGCACTCACCAGGGGGCTTGTGGGCATCGGGGGGCAGCCTCTGGTCCCTCCGGAGCAGGTACAGGGCCAGCAGGATGGCCAGGGGGCCCAGCAGCCCCAGCACCAGGCCCAGGCCCAGGATGGCGGCAACCGCACGGCCTGCAGGAAGGGGTCTGCTGGGTGGGGTCCACAGGAGGGGCCCCCATGCCGCCCTCCCCTTCTCCTATTCGGGTTGGGGGCCCCGCTGGGCTGGGCCAGGCGCCCTTACCCCCGGGGACCTCCACGGGCCGGGTGGAGGGTCCCTGTGAGGTTCTGGGCCAGGCTTCAGTGGGCTGGACAGTGATGGGCCTGGCCGGGGGGCCCTGGGTCTCCTGGGGCTGCGTGGCTGGGGGGTCCCTGTCCTCACAGATTGCGTCCGAGCTATTGCTGGCCGGCTGCAGGGTGTGCTTCCCAGCCAAGGTGCAGCTGTTGGGGAACAGGAGGTGTTGCTCAGGCCAGAAACCCCCTGGGACCCGGGAGATGCGGTGGGGATAACAGGGTCCACGCTGGCCAGCCACAGGCAGCATCTACCACAGACACCAGGCCAGTGACAGCCAAGGACGCTGCCCAGCCCCACGTGCCCCCCACAGGGGCCTCCAAGGCCACACACCCTTCTCCCACATCTACACCCCCCACCAGCACCTCCCTGTCCTGTGCCCCCAGGGCCTCCCAGCTGCGGAGGGTGAGGGTCCCACACACCCAGCTCCACCCACAGGGAAAGGCTGCCCCCAGGCAGCAGCTTCCTGCTCCCCAACCAGGTCCAGCCACATAGCCAGGCCCCCAGGGCCACCAGCACCTCCCCTTCCCCCAAAACTGCCCCCACCCCACCTGCCCCCCCAGCCCCTCCCAGCTCCCCAGCTCCTCCGCCCTCCTAACCACCCCAACCCCCCCCCAGCCCCTCCCAGCCCCTGGCCAGGCCCCTCACTTGGTCCAGGGCTTGCAGGCCTGGTTGTCGCCTGGGGAGAAGTGCCCTGGAGGGCAGGGGGCACAGTCTGCAACAAAGATAGGGTGGTCAGGGGCTGCCCACAGGCCCCGGGTGCTGGGGACATGGGGCAGAGCCTGTGGGGCAGGCACTTGCCCCCCATGGCTGGGTGGTGGGTTTGGCCTCTGGAAGCCCTCCCTGCCCACATCCCACCCGTGGGCCCTGACCCGGGAGCTCGGTCTTGAGGATGCCAGAGGAGGCACCGGTGGGGCCAGGTCCCTGCGGCCCACGGCCCATCTGCGTCACAGACAGCCGCTATGCACACCCCCAACCGCCGGCCGCAGCCACCGAGCTCACCAACTCCAGGCTTGTAGCTGTCCAGGGGCTGGGTGCCCGCCCGGCAGCGGCAGACTGTGTCCTGTGTGGCCGTGCACAGCTGCTTCCGCTCACTCCCACTTCCTGAGCAGGGGCCGGATGGGGGGGTGGTCAGGTGGGGGCTGTGGACAGGGTCCTCAGGAAGCGTGGGCACTGGAGGACAGGTTGGCCTCCCCACCACACAGAGGGCCGTGGGCAGGGGTCTGCGGCCTCCCCTGAGACTTGGAGCCCCTGCAGCCCCCGAGGCTCCTGGGCCCTCCCTTCCTGGCCACAACCTGGGGCTGGTTCCGTGGCAGCCCCAGCCACCCTTCCCTACCCCTCCACCGCCTCCAGCCGCCAGCCCCGCCTGCGGCAGGGTCTCCATGGCCCAACCCCCCAGCCTCACTGCTCAGGCCAGCAAGGCCAGGCCACATGGCCAGCGTGGTCTCCCCGACTCCACGTGGCCTGGGCCGAGTCTGGGCCCCCGGAGGGAGAGGGGGTGCCCCTGGGAGACGCCTCAGCTCCTCGAAGGACCCCTGTGGCGGAGCAGACCCCGCTGTGGTTTGAGGTTCGTTTCTGCGGCTGTGGGAGCCCCATGCTGCTGCGTGGGAATGTGGGTGCCAGGCTGCCGCCCCCTGTGCTGGGTGGGGCTGTGGGGCCAGGTGGGAGCTCACTGAGGTTACACCACGTGCAGGGCTTGCACGGCTTGGAGCTGACCACGTCGTTGTAGAAGCCCGGCCCGCACGGACAGCACACCGTGTTCTGGGAGCGGCTGCAGCGGCTCACCATCCCGTTGCCTGCAGCAGAGGCCGGCGTCAGGCAGCGGTCAGGCCCCAGGCTTGCGCCCGTGGACCCCCCCAGGCGGCTCCTCTGCCAGGCTTGGCCGGCCCCTCACCCGCCCCCTCCCCAGGACCAGCCTCCTGGCTGGCCCATCCCTGCCCCAGCCCCCAGTCCCTGGAGTGCCCGTGCGTGGCGACCCCTCCTGAGGCCTCACCTGGCCTGCACTCGTGGCAGCACCGGTCGTTGCTGGGGTAGGTGTCCCCGACACAGTGGAGCCCCGTCACGGTGCTCAGCCCCAGGCCCAGGAGGAGCAGAGCCGCACACGGCCCGCGGCCCAGCCGCCGAGCCCCCACGCACATCCTCGTCTCTGCTGTCGCCAGAGTCTGGGTTTTCCTTGCGGGGTGTGGCTATAAGGACTGTGGAGGAGGGGAGGGGAGAGGGGAGGAGGGCAGAGGAGGCGGGAGGAGGAAGGTGGCAGGCCGGGGACCCTGGCTGTGGGCTGGGCACAAAGGCGGGGTCTGGGCACCCCCAGCATTGGCTTATTCTGCCTTCTGACCTCTTCTGCCCAAGACCACCGTGTTCAGACCCCAGGGCACAGTAGGGCCTGGCCTGCGGCTCGACCCTCAGCAAAAAGGTCCATGGAGCACGTGGGTAAACTGAGGCAGCACTGAGTCAGGAGAGGCAACTCCTCAGTCTGGACCTTCAGGGCTGTGGCACTGCTGAAGCATGGTCCCCCTTGTATGCCCAAGACTAGCTCTGAGCAGCAGTGACCACAGCCATGGTAAGACAGACACCCATGGCCAGGCACGGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGGCTAACATGGCGAAATCCCGTCTCTACTAAAACTACAAAAATTATTCGGGCGTGGTGGCGGGCGCCGGTAATCCCAGCTAGTCAGGAGGCTGAGGTAGCAGAATCACTCGAACCCAGGAGACAGAAGTTGCAAAGCAGAGGTGGCGCCACTGCACTCCAGCCTGGGCGACAGGGCGAGACTCATCTCAAAAAAAAAAAAAAAGACACCCGTGACCACAGCCCACGCTGAGTGTGCCTGAGCACGGCAGGTGTCTATGGCTGAACTGTGCCCCTTAAATTCCTGCGTGGAAGCCCTAACCCCCATGTGGCAGTGTTTGGAGACAGGCCTCTGAGGAGGTGGTGAGGGTGGGTCCTGGATGGCCTGGCGCACACGGGCACGCAGGCAGGTTTCCACCTTCTATGCAAACAGTTCTCAGGTTCCAGGTTTGCCCAGAGGATGCGAACTGCCCGGAGAGCTGGGGAGCAGGTGCGGGGCTGGGGGCTCCCTGGGCCCTTTCTGCACCTTTCAAATAACTGTGACCAGCCTGTGATTATCCAAAAGTTCATTTTTGAAGTTGCAAGTGGAGAGGGGCCTCTAGGAACAGAGCAGCAGGGAAGGGGCTGGAAATCCCCTCCTCCCAGGAGCACAGGAAACAGCTGCCTGTCCTCGGCCCACCCGTGGGGAAATTCCCAGCCGTGGAGCCCGCTGGCCCTGGAGAGGGAGGGAGTGGAGGGAGAGGCCACCCGCCCTCGGACTGAGGGTCCCTAAGTTGGTCACCCTCCCCACGTCCCCACAAGTAGAGAGGACCCTGGAAGGGCTCAGAGCATCCCAGACAGTGTGTGTACCTGCATGTGCACACCCCAACCCAGGTGGGCAGAGGAGGAAAGTTCTGGCATTTTGTGGAAGGTTCCACCCAGCGTTCACAAGGGTTTCCCACTGACAGTGAGAAAAAGCTTACATTTGCAATTGGTTCCTTGGAGGTTCAGGTGAACTGGGGGTCTTGGTGGGCAACACTGCTCTCCTGGGGCCTAAGTGGCCACATCTGCCCACAGGTGCAGTGAGTGGGGCCCGTGCACCATGGAGAGGGCACCCCCAGCATATTGCTGGCAACTGCAATGGCCCCAGGATGGGGCACGGCCCCTCCTGC |
Task1_train_5 | 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. | Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2 | ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGC | ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCGTGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGC |
Task1_train_6 | 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? | Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2 | ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGC | ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCGTGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGC |
Task1_train_7 | Gene B3GALT6 (beta-1,3-galactosyltransferase 6), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity | ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGC | ATTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCGTGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGC |
Task1_train_8 | Consider this mutation in B3GALT6 (beta-1,3-galactosyltransferase 6) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity | TTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCT | TTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCACGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCT |
Task1_train_9 | 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. | Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2 | TTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCT | TTCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCACGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCT |
Task1_train_10 | Gene B3GALT6 (beta-1,3-galactosyltransferase 6), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity | TCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTC | TCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATAAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTC |
Task1_train_11 | 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? | Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2 | TCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTC | TCAGCTTCACTGTTCTGGCACCTGCCACTCTGCCTGCACACAGTAGGCGCTCAACGAATGCTACCCTGGGTAATATTAAACGAAAAAATGCTGCCTCCAGGTATCGAGAAACACCAGTGGGGCCGCCATGAAAGTGGTCCTGAAGTCAGTGCAGTCTGCCACAAACCAAGAGGGGTACAAGCCTGAGTTCCCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATAAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTC |
Task1_train_12 | Gene B3GALT6 (beta-1,3-galactosyltransferase 6), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | CCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCC | CCCCAAGGAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCGGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCC |
Task1_train_13 | 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. | Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2 | GAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGT | GAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCTCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGT |
Task1_train_14 | 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. | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity | GAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGT | GAAGGAAACCCTGGGTGAGGGGCTCATGTCTGATTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAGTTAGCTGGGATTACAGGCACCCACCTCCACTCTCCACTAATCTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCTAACTCCTGACCTGAAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCTCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGT |
Task1_train_15 | 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? | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | TGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCA | TGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGAACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCA |
Task1_train_16 | Consider this mutation in B3GALT6 (beta-1,3-galactosyltransferase 6) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Al-Gazali syndrome | GCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGC | GCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGAGCCATGCACCCGGCCTGATTTTCTGAACATGGCTGAGGGCTTTTCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTACTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGC |
Task1_train_17 | 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. | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | TCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTC | TCCCTTCCCTAGTGGTGGCATAATTCTATTCCTGTCGTCCCAGATCGCCTGACCAGGGGAGAGTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCCTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTC |
Task1_train_18 | 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. | Pathogenic; Al-Gazali syndrome | GTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGA | GTCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGGGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGA |
Task1_train_19 | 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. | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | TCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAA | TCCTGGATAAGAACCAAGACACCTCCTCCTGGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCCACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAA |
Task1_train_20 | 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? | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | GGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAAGAGTCTAAAAATCCAGTTTGCAACCACTTC | GGTGCTGACTCCACTAACTACAGTCGTAAAACACACGCTGTGTGCAAAGAGACTGTACTTTGTTCCTAGAGAAAATAAAGCTAGTTCTTGATTCTACATATCTTGATGAGTTACACGGTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCAGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAAGAGTCTAAAAATCCAGTTTGCAACCACTTC |
Task1_train_21 | 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? | Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2 | GTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAAGAGTCTAAAAATCCAGTTTGCAACCACTTCTGACCTACAAAAAAATGGAAATTTAGTGTTTTTCAGCCTAAGACATTAAATTTCATATCAGAACAAAGCCTGCCCCAGGCTGACCCTCCCCAGCCGTACCGTGGTGAACGGGTTCAG | GTTTACTTGAGGCAGGAGGATCGTGAGACCAGCCTGGGCAACACAGTGAGACTGCGTCTCTTTAAAAAACAAAAACAAAAAGATAAGACCCTGTCTCGAAAAAGGGGGAATAAAAAGTAACCCAAAAGTAACTATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGTGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAAGAGTCTAAAAATCCAGTTTGCAACCACTTCTGACCTACAAAAAAATGGAAATTTAGTGTTTTTCAGCCTAAGACATTAAATTTCATATCAGAACAAAGCCTGCCCCAGGCTGACCCTCCCCAGCCGTACCGTGGTGAACGGGTTCAG |
Task1_train_22 | 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? | Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | ATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAAGAGTCTAAAAATCCAGTTTGCAACCACTTCTGACCTACAAAAAAATGGAAATTTAGTGTTTTTCAGCCTAAGACATTAAATTTCATATCAGAACAAAGCCTGCCCCAGGCTGACCCTCCCCAGCCGTACCGTGGTGAACGGGTTCAGAGGATACGTGGGCTGAAGGCTGGGCCTCGGGAGGGCTGGGGGCTTCCAGAGCCGGGGCAGCTGCAGCTCTCTCTGGTCTCACCTGGAACTTGCCCTGTAGATCCTCCCTGCCCTGCGGCTCCAATCGACCGTG | ATAAATATCAGGAGTCCATCAAGTGGCGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTCCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAAGAGTCTAAAAATCCAGTTTGCAACCACTTCTGACCTACAAAAAAATGGAAATTTAGTGTTTTTCAGCCTAAGACATTAAATTTCATATCAGAACAAAGCCTGCCCCAGGCTGACCCTCCCCAGCCGTACCGTGGTGAACGGGTTCAGAGGATACGTGGGCTGAAGGCTGGGCCTCGGGAGGGCTGGGGGCTTCCAGAGCCGGGGCAGCTGCAGCTCTCTCTGGTCTCACCTGGAACTTGCCCTGTAGATCCTCCCTGCCCTGCGGCTCCAATCGACCGTG |
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},
}