Datasets:

Modalities:
Text
Formats:
parquet
ArXiv:
Libraries:
Datasets
pandas
License:
Dataset Viewer
Auto-converted to Parquet
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
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🧬 BioReason
Incentivizing Multimodal Biological Reasoning within a DNA-LLM Model

arXiv GitHub Website HuggingFace Dataset


Variant Effect Coding Dataset

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.

Usage

from datasets import load_dataset

dataset = load_dataset("wanglab/variant_effect_coding")
example = dataset["train"][0]
print(example)

Citation

@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}, 
}
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