Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
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
Task1_train_23
A mutation in B3GALT6 (beta-1,3-galactosyltransferase 6), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 2
CGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAAGAGTCTAAAAATCCAGTTTGCAACCACTTCTGACCTACAAAAAAATGGAAATTTAGTGTTTTTCAGCCTAAGACATTAAATTTCATATCAGAACAAAGCCTGCCCCAGGCTGACCCTCCCCAGCCGTACCGTGGTGAACGGGTTCAGAGGATACGTGGGCTGAAGGCTGGGCCTCGGGAGGGCTGGGGGCTTCCAGAGCCGGGGCAGCTGCAGCTCTCTCTGGTCTCACCTGGAACTTGCCCTGTAGATCCTCCCTGCCCTGCGGCTCCAATCGACCGTGCACGGGCCGTGGCATCCGTCCCCCAG
CGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGACCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAAGAGTCTAAAAATCCAGTTTGCAACCACTTCTGACCTACAAAAAAATGGAAATTTAGTGTTTTTCAGCCTAAGACATTAAATTTCATATCAGAACAAAGCCTGCCCCAGGCTGACCCTCCCCAGCCGTACCGTGGTGAACGGGTTCAGAGGATACGTGGGCTGAAGGCTGGGCCTCGGGAGGGCTGGGGGCTTCCAGAGCCGGGGCAGCTGCAGCTCTCTCTGGTCTCACCTGGAACTTGCCCTGTAGATCCTCCCTGCCCTGCGGCTCCAATCGACCGTGCACGGGCCGTGGCATCCGTCCCCCAG
Task1_train_24
A variant was discovered in gene B3GALT6 (beta-1,3-galactosyltransferase 6), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Spondyloepimetaphyseal dysplasia with joint laxity
CGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGTCCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAAGAGTCTAAAAATCCAGTTTGCAACCACTTCTGACCTACAAAAAAATGGAAATTTAGTGTTTTTCAGCCTAAGACATTAAATTTCATATCAGAACAAAGCCTGCCCCAGGCTGACCCTCCCCAGCCGTACCGTGGTGAACGGGTTCAGAGGATACGTGGGCTGAAGGCTGGGCCTCGGGAGGGCTGGGGGCTTCCAGAGCCGGGGCAGCTGCAGCTCTCTCTGGTCTCACCTGGAACTTGCCCTGTAGATCCTCCCTGCCCTGCGGCTCCAATCGACCGTGCACGGGCCGTGGCATCCGTCCCCCAG
CGCTTCCTCTCCTGGCTTCAGAGTATCTATTCATCACGGTGTGCCAGGTTCGCAGCACAGCGGAGCGGGCCGGTCCCACCGGAATGGGGTTTCGACTTCGCCATCCCCTAGCAGCTCAGTTCCCAGCAAGGAATCAACACACCCTTGCAAAACGGACGTGGGAAACAGCTTAGGCAGAGACGCTATTTCTTTGCCATCCCTGGGCTTCAGCTCTGGTGGAACGAGGCTATTTCTGGCAGTTAACAACACACACGGTTAGATTCTAAAAGCTCAACAGGGTTCATAACACCGCCTCTGAGCCAGACATCAAGGGCTCCACACAGCCGACTTCACATCTCCAAATCCTACTAACTGGGGATGAGGGTCCACGCGGTTCAGAAGCGGAAGCGCAGGCGCAGGGAAGCGGGGCAGCTTGTCCAAGGTCGCCTCGCCGATAAACGCGAGTCCAACCAGACCCCTTGGGCCTCCGTTTCCCGGTGGCATTCGTAGGTTTTGGCCAGTAGGAGACCAGACGTGCCGGCGGCCGGGGAGGCCAGCGTCGTCGGCCTGTCCCTGCCCCCGGGAACCCCGGGAGCCCCGGTGGCGGCGGAGTCTCGCCAGGGCTCAAGGCCGAGCGGACGGACGATGCCCCAGCCCAAGGCGGGAGGCGGCGGCGGCCTCCAGACCCGCCCTCGCCGTCCGGCCGGCGTACACTTGGCCCCGCGGCCTGCAGCGGCCGTCCCGGGCCCCTCACTCACCGGTCTGCCTCCCCGCGCTCGGGATCCGAGGACCGGAGCGAAGCGTCAGTGACGCCGCCAACGGGCCCGGATCAGGCCACTGCCATCTTTCTTGCGGGCGGGGGCGGTGCGAACGGGCGCGACCTCACGGAGGGGACGCCGGCGCCACCATCTCTCCTCCGGGCGGAAGCGGTCGCGGGGCCGCTCCGAGGTTGACCAATGACAAGGGTGCCCGAGGCCACGTGACGGCCGCCGATTGGCCGCCGGCCTCCGAGCGCCCCGGGGCTCGGCGTCTGCGGAAGGCCCCGGCGCGCTCCCAGGAGCGCCGTGCGCACGCGCACCGCCCCGAGCCGGCGGCGCCTGCGCACTCGCGAGTCCGGCCTGGGCCGCCGGCCCGGCGCGGGCGCCATGAAGCTGCTGCGGCGGGCGTGGCGGCGGCGGGCGGCGCTAGGCCTGGGCACGCTGGCGCTGTGCGGGGCGGCGCTGCTCTACCTGGCGCGCTGCGCGGCCGAGCCCGGGGACCCCAGGGCGATGTCGGGCCGCAGCCCGCCTCCCCCCGCGCCCGCGCGCGCCGCCGCCTTCCTGGCAGTGCTGGTGGCCAGCGCGCCCCGCGCCGCCGAGCGCCGCAGCGTGATCCGCAGCACGTGGCTTGCGCGGCGCGGGGCCCCGGGCGACGTGTGGGCGCGCTTTGCCGTGGGCACGGCCGGCCTGGGCGCCGAGGAGCGGCGCGCCCTGGAGCGGGAGCAGGCGCGGCACGGGGACCTGCTGCTGCTGCCCGCGCTGCGCGACGCCTACGAAAACCTCACGGCCAAGGTGCTGGCCATGCTGGCCTGGCTGGACGAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGACTCCTTCGCGCGGCTGGACGCGCTGCTGGCCGAGCTGCGCGCCCGCGAGCCCGCGCGCCGCCGCCGCCTCTACTGGGGCTTCTTCTCGGGCCGCGGCCGCGTCAAGCCGGGGGGGCGCTGGCGCGAGGCCGCCTGGCAACTCTGCGACTACTACCTGCCCTACGCGCTGGGCGGCGGCTACGTGCTCTCGGCCGACCTGGTGCACTACCTGCGCCTCAGCCGCGACTACCTGCGCGCCTGGCACAGCGAGGACGTGTCTCTGGGCGCCTGGCTGGCGCCGGTGGACGTCCAGCGGGAGCACGACCCGCGCTTCGACACCGAATACCGGTCCCGCGGCTGCAGCAACCAGTACCTGGTGACGCACAAGCAGAGCCTGGAGGACATGCTGGAGAAGCACGCGACGCTGGCGCGCGAGGGCCGCCTGTGCAAGCGCGAGGTGCAGCTGCGCCTGACCTACGTGTACGACTGGTCCGCGCCGCCCTCGCAGTGCTGCCAGAGAAGGGAGGGCATCCCCTGAGCCGCCGCGGCCCGGCCCTCCGGGACACCTGCTTCACCCGGCGGCGCCTTGGGGCAGGTGCCGAGCGGGCGCACTACGCCCGGGCCCCAAGGCCCCCGTCCCGCAGCCACGCTTGTGGTCGCTGCGTCCCGGTCTGCGTTTGGGAGACCCCTGGGGGTTGCCGGGGCAGCGCGCCGTGTCCAGGTGGAGGTGCCCGTTCCTGGACCTCAGCGAGCCTGAGCCGGGCCCGGCCGCACGCTGACCCCCGTGCTGTCCCCGACCGGCTCACGGGGCTGGGCTCCGATCTTCCGTGTCTCTTATCAGTGGCGTTTCTCACGTCTGCGTCTCAGATCTAACGTGGTTTCACATCAATCCGCTTTCATGGGATTTTGGTCTCTGTCCAGTGACTTCGTGGTAAATGTAACTCAGTGTTTGCTTGCGACTTATTTATAAATATTGTAAGTTTGTGTCGATGAGTGTAAGTTGGCAGTGCGCACGTCTCGGTTTTTTTACATGATTTAAGGAAAGACTTTTATGTCAGAACTTGGTGCCTGTACCGTCAACCCCGCTGCTGCCCGTGTTTAAACGCAGGAGAACTTTAAAACTGGCCATCTATCTTTTCAGTGTACAAGTCACTGAACCCATTGTTTCTTTCTGAAGAGACTTTCCTTTCAAGGCTTCCCATGGGTCCGCGCCACACAGGGCCGGTGCTGCTTTATTTCAGACTCTGCCCCAGGTTCCAGGAATCCGAACCCCGGAGTGCTGACGCGGTTCCCCAACTTCCGCCTTAAGAAAACAGGACCAGCCGGCACCAGGCCCGTCTCTCACGTACTTTAACACATCCTTGAAAGCCCCTCGTTTAATGAGAAAAGCGAACACTGCGGTCCTTGCCAAAGTAAAATGAAGCTGCCCCAGGACAAGGGGTTACCATGAGCTCCCTGGAGTCCGACGCGGGTTTTCTCTCTGGGGGACCTGGGTGGTCCCCGCTGTGGTCTTTGTTGTCCCACTTTGGGACCGGGTCCAGTCTGGGGTCTAGTCTCGAGCATCAGGGTCAGGCTCGGGGCAGGGCTGGGTTAGGCTCCGGGTCAGTCTTGCCATGGGTTTGGGAGCAGGTTTGGGTTACTTGCGTTTGAAGGCAGCAGTGGTCTCAGGAGGAAGAAACGGGGGCGGGAGAGAGTGGTGATCTGTGGTCAGTGGGTCAGTGACCTGCACGGTGATTCTCCCACCTCCAAAAGGTAGGGGTGGGACTGGAGGCGTCCCTAGGTCAGGCCGTTGAGTTCGAGCTCCGATGGGCCACCTTGAATCCAGGACTGACCGCCCGTGTGTGCACAGTTTGTTCTTGGACGAGGACTCGTGAGGATCGAGGGCTGGGGACCCCGGTGTGAGCAGGATGGGGCCCTGCCCTCCCGTGGGAGTTGTGGACTCGAGCCCAGGGGCTGCCCGTCACAGCGGTGTCCCAGGTCCCTGCCATCCGATTTTACCTGGGATGTCTTCTCTGGAGTTTGGAATTGCTTGAGGAACCCTGCGTGTGCTTGGAGAGGCCAGAGGGCTTGCTGAGAACCCCATGGACAGTGGAGAGCGGGATTCGAACCAAGGGCTGGACTCCCACACCTCTGGCCTGCGTCGCCCAGTTCTTTGTGGCTCTGAAGAATTGGCCGCTGTGGAAAAGAGCAAATGTCCGAGACCCCCAACAGGAAGAGTCTAAAAATCCAGTTTGCAACCACTTCTGACCTACAAAAAAATGGAAATTTAGTGTTTTTCAGCCTAAGACATTAAATTTCATATCAGAACAAAGCCTGCCCCAGGCTGACCCTCCCCAGCCGTACCGTGGTGAACGGGTTCAGAGGATACGTGGGCTGAAGGCTGGGCCTCGGGAGGGCTGGGGGCTTCCAGAGCCGGGGCAGCTGCAGCTCTCTCTGGTCTCACCTGGAACTTGCCCTGTAGATCCTCCCTGCCCTGCGGCTCCAATCGACCGTGCACGGGCCGTGGCATCCGTCCCCCAG
Task1_train_25
A mutation in INTS11 (integrator complex subunit 11), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; not specified
AGGGGGGAAGAACTTCTGCCAGCCCCAGACTTCTGTGGCAGAGCAGCAGGTACAGGACTGGGGGTCTCTGGCACCCGCACCAGCCACGTTCCCAGACCCTGCACCAGGACCCTAGGTGAGGGCCCAGGGCAAGCCCCTCTGGGATGGCCAGGCTACCTGCCCAGCCTCCAGGGTCCTGCTGCCTCCTTGCCCAAGCATTGTTTCTCTGGTTTTAAGCCCCTCCAATGGGCCTCACTGGGGGCAGGAGATCAGCCAGGGCCCCTGGTGGCCAAGCTAGTGGGAACCAGGCTCGTCTTTAGGCCCACCCTGTCACTCTCCCGTCCAAGGCCACATAGTAGGCTGAGGATGGCAAACACTGCCCCACAGACACCTACAGGTACGTATTTTTCCAGGAAGCTGCGGTTCTGGAACCTGGAGTTTGAGAGCCAGTCTTTCCTGTATAGACAGGTAGGCTCTGTTCTGGGGCCGTCCCCAGGGGGTGGGGCTGAGGGTGGGCAGGCCCCTGTGCAGTCTTGGCTCTGGGTCGTGGGCGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTGGTGGGTCACGGGCGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTGGTGGGTCACGGGCGGCTCTGGGTCACAGGTGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTGGTGGCCGTGGGGCTGGGGGCTTTGGCACCTGCCCAGGTGAAGACGATTCTGGAGAGCCAAGATCCCCTGGGCAAGCACCAGACACGTGTAGCCCCAGCCCACGGCTTATTCCTCAAGTCAGTGCTGTACGGGAACCTCGGTAAGAAAAACAGGCACGAGAAGCTCCTGTCATGTGCCCAGTGACTACTGTGGCCGAGGCATGGGGTGGGGGGCCAGGGGCCACTGACGGCAGCAACTGGGGGTGAAGCAGCCCCCCGCCCAGGGCTGCAGTCCCTCAGGCCAGCCCGTAGCCCGTCCTGGGCTGGCCCACTCCCTGGTCATGGGAGTGGTCTCAGCGGTGGGGAGGGTGCTGGGCCGGTCTTGCCCCAGGCTGACGCAGGGTCTGGTCCGTCCACAGGTGCTGCCTCCTGCACCCTGCAGGGGCCACAGTTCGGGAGCCACGGATGACCCTGGACACTCAAGCCAAAGTTAGGCCACACCAGGCCCAACCCTGTGCTGGTCAAGCCAGGGCAGTCACAGCTGCTTGGGGCCCACAGCACTGCTGCCTGGTCTCCACAGTAGCCTCCCTGCCCGGGTCCCAGCACCCTGGATGCCCGTCTCTGTCCCAGGCGGGATGGGGCACAGTGCAGGACACAGCCATGTACACCAAGAAGAGAGTACCAAGTAGTCTTTTGTTCAGCTTTTACTGGAAACTGCTGTCTAGGACCACCTGCCCTAACCAGGAATAAAGGCAAGACAGCCTGGAGACCAGTTTGTTTCTTCAGCTGCAAACAGCTGCCTGGGCAGGCAGGTGACACAAGGCCTCTGTCCCCAGGGATGGGACCTGCAGGGTCTGTTCACCCAGGGCACCCACAGTCCTGAAGTGCAGGCCCAGGGTCTGTCCAGCTGGGAGAGGGCAGAGGTGGCGGCTGGGTGAGTTGCCGGCCTCAGCTGGGGGCCTGGGGGAGGCCCTTCTTCAGCAGAGATGTGAGGAAGCTCCCCAGCTCCTCGTCCTAGGGCAGAGGCAAAAGCATTGTGGGTGGTGCAGGACAGGGAGGAATGTTGATACCTGTGTTGACCGCGGTGGGGTGGGGGTCACCCCTTACCTGGTAGGTCCAGGAGACCAGCAGCACCTTGGTGCCTGGGTCCTCAGAAGGGGCGGCGGCCTGGAGGAGGACGGACTCCACAGTCACAGAGCCGTCTGGGAGGTGCTGCACACAGTGGTCCTTCAGGACGCTGTGGGGAGGCTCGGTGAGACCCTGCCTGGCCTCCAGGGCCCAAGGGAGTGGGGGGGGGGCGGGGCCGGGCGCCCACCTCTTGAGGTGGCTGTAGACGCGCAATGCCGTCTCCTGCTCCTTGCGTGTGTCATGCAGGTGCACGCGGCAGGTGAAGCGCAGCTGGTGCTCAGCCAGACCCAGCTCTTTGAGGGCTTGCTCTGAGGACACCAGCCGGAAGTTCTGTGGGGCAGGGACAGGTCAGTGAGCGCAGCAGCGGCCCTCCCCCCTCCAGAGACCGTCCTGGCACTCACGCTGTCCTTCATGATCAGGGTGCCGTGCAGGAGCCGAGGCTTCTTGGCCTCAGGGAGCAGCCCTGCGGAGGAGGTGGCAGGAGCCATCAATGTGAGGGCCGCTCCCAGCCGCCTGCCCCGAGCACCCTGCCCTGCCCTGCCCAGCCCGCATACCCTGCGCCATCTCCCGCTTCAGCAGCCCCAGCGAGATGCCTACGGGGATGCTGGGGCTTGTGGGCAGCGTCACCGTCTCGCCATTGGCCGGCATGTAGCAGTTGACCCCTGGACCCCGGGGGAAGAGAGAGCCTCAGCCCAGGCTGCCCGTGCTGACCCGAGGTGGGCCCCACGCCGCCCGCCCGGCTGCCTACGGAGCTCCTGCTCGATCTTCTGCTTCAGGAACTCCATCTTCTTGGCCTCGCCATGCACCAGCAGCACGCTCTCCGGCTCTGCCTGGCCCACCAGCTGCATGATGCCCTTGGCGTCCGCGTGTGCGCTGAATGACATGTACTCCACCTGCATCTTGACCTCCAGCTACAGAGGCCACGGGGCGTGGACAGTGGTTACCACCAGGAGGTGCCCCTCGGCCCTGCCAGCCCAGTGCGGGGTCGAGACTCACCACCTGCCGCCCCTCCATCTCGAGCTTCCGCTGCCCGCTGAGGATCTTGTGGCCGACGGTGCCCTGCACGCAGTAGCCGGGCATGATGACCTGGGGGCAGGCACAGAGCTCACAGCCAGGGAACTCCAGCCTTGGCACCTCAAGGCCTTGCCCGGGATGCCCCCGCCTGAACCCCTGGAAGCTGTTTCCACCTGCCAGCGGCGCCCGACCAAGCCTAGCTGCAGACTCCAAAGGGCTCAGGTTTTGGCACAAGACTGTCCAGGGCTGGGCTGGGGCTGTTCTGCCCGAGGTGGACAAGCTGTGTCACAGAGACTGAGCAGCTCCAGGCGGACATCGCCCCCGTTCCCCAGCAGCAGCAGCCACGTCCCTTGGCCAGCACGAGGCCAAGCCAGTGAGAGCTCAGAGACAGCATGGGTGGAAGGACAACCCGTCGGCCTCCAGCTTCCAGATTCCCACACCTCACCATGCCCTCACCATGTTCTTTTCGTTTCCGGCCCATTTCCGGAAGATCTGCAGGGACTGCCCAGCGTGCAGCATTCCTGGCGTGGCAAACACAACCTACAGGACACACAGGGCCAGGTGGGGGGTCAGGGCAGCAGATGCCCCCACCCCCACTGCAGGCCCAAGCCCAGACACCTGCGGAAGACAGGAGACCGACGGGTGTGGATGTGCTGGCCGGCCCTGCCGCGGGCCTCACCATCGGTCCTGGGTTGTCAGCAAAAGCCCGGTCGAAGGCCTTGATGTGCTTGAACTCAAACATGTTCCTCTGCACGAAAGTCTTGCGGATCTTCTGGTTGGTCCAGGGGATGAACAGCTTGTAGTAGTGGTTGGCCTTCTCGGTCAGCCCCGTGGAGAAGTAGATGGGCACCTTCAGGTTCATGCGCTCCCTGGGGACCACCGGCCCAGTCAGCACAGTGGCCACAGGGGAGAATGCTGCAGGGCAGGACTCGGCCGGGTCACCCCCAACACCCGTGTCTGCACAGCCCACGCACGGGCCAGGTTGAGTCCAGTCGCGACCACTTGTCCCATTAAGCCCTGCAGCAGCCGGGCTCAGCGGAGAACCAGGAACCCCTACAAGAGCCGCACACGGTGGCGCTGACGGGATGTCACAGGCTTCCTGGGGTCACACAGCACACGAGCGGCCCCCCAGGACAGCAGCAAGCAGGGCCAAGATGCCACCGCTACGCTGGACAGGGCTGCCCACCAACTGGACTGTGTTCAGGCCGGGCCAGGGGCTCCTTAAAGAGCCGTCCTGGCGGCACCTACCAGAAGGTCTCCAGGAGGATGCAGAGCTCCTGGGCGC
AGGGGGGAAGAACTTCTGCCAGCCCCAGACTTCTGTGGCAGAGCAGCAGGTACAGGACTGGGGGTCTCTGGCACCCGCACCAGCCACGTTCCCAGACCCTGCACCAGGACCCTAGGTGAGGGCCCAGGGCAAGCCCCTCTGGGATGGCCAGGCTACCTGCCCAGCCTCCAGGGTCCTGCTGCCTCCTTGCCCAAGCATTGTTTCTCTGGTTTTAAGCCCCTCCAATGGGCCTCACTGGGGGCAGGAGATCAGCCAGGGCCCCTGGTGGCCAAGCTAGTGGGAACCAGGCTCGTCTTTAGGCCCACCCTGTCACTCTCCCGTCCAAGGCCACATAGTAGGCTGAGGATGGCAAACACTGCCCCACAGACACCTACAGGTACGTATTTTTCCAGGAAGCTGCGGTTCTGGAACCTGGAGTTTGAGAGCCAGTCTTTCCTGTATAGACAGGTAGGCTCTGTTCTGGGGCCGTCCCCAGGGGGTGGGGCTGAGGGTGGGCAGGCCCCTGTGCAGTCTTGGCTCTGGGTCGTGGGCGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTGGTGGGTCACGGGCGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTGGTGGGTCACGGGCGGCTCTGGGTCACAGGTGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTGGTGGCCGTGGGGCTGGGGGCTTTGGCACCTGCCCAGGTGAAGACGATTCTGGAGAGCCAAGATCCCCTGGGCAAGCACCAGACACGTGTAGCCCCAGCCCACGGCTTATTCCTCAAGTCAGTGCTGTACGGGAACCTCGGTAAGAAAAACAGGCACGAGAAGCTCCTGTCATGTGCCCAGTGACTACTGTGGCCGAGGCATGGGGTGGGGGGCCAGGGGCCACTGACGGCAGCAACTGGGGGTGAAGCAGCCCCCCGCCCAGGGCTGCAGTCCCTCAGGCCAGCCCGTAGCCCGTCCTGGGCTGGCCCACTCCCTGGTCATGGGAGTGGTCTCAGCGGTGGGGAGGGTGCTGGGCCGGTCTTGCCCCAGGCTGACGCAGGGTCTGGTCCGTCCACAGGTGCTGCCTCCTGCACCCTGCAGGGGCCACAGTTCGGGAGCCACGGATGACCCTGGACACTCAAGCCAAAGTTAGGCCACACCAGGCCCAACCCTGTGCTGGTCAAGCCAGGGCAGTCACAGCTGCTTGGGGCCCACAGCACTGCTGCCTGGTCTCCACAGTAGCCTCCCTGCCCGGGTCCCAGCACCCTGGATGCCCGTCTCTGTCCCAGGCGGGATGGGGCACAGTGCAGGACACAGCCATGTACACCAAGAAGAGAGTACCAAGTAGTCTTTTGTTCAGCTTTTACTGGAAACTGCTGTCTAGGACCACCTGCCCTAACCAGGAATAAAGGCAAGACAGCCTGGAGACCAGTTTGTTTCTTCAGCTGCAAACAGCTGCCTGGGCAGGCAGGTGACACAAGGCCTCTGTCCCCAGGGATGGGACCTGCAGGGTCTGTTCACCCAGGGCACCCACAGTCCTGAAGTGCAGGCCCAGGGTCTGTCCAGCTGGGAGAGGGCAGAGGTGGCGGCTGGGTGAGTTGCCGGCCTCAGCTGGGGGCCTGGGGGAGGCCCTTCTTCAGCAGAGATGTGAGGAAGCTCCCCAGCTCCTCGTCCTAGGGCAGAGGCAAAAGCATTGTGGGTGGTGCAGGACAGGGAGGAATGTTGATACCTGTGTTGACCGCGGTGGGGTGGGGGTCACCCCTTACCTGGTAGGTCCAGGAGACCAGCAGCACCTTGGTGCCTGGGTCCTCAGAAGGGGCGGCGGCCTGGAGGAGGACGGACTCCACAGTCACAGAGCCGTCTGGGAGGTGCTGCACACAGTGGTCCTTCAGGACGCTGTGGGGAGGCTCGGTGAGACCCTGCCTGGCCTCCAGGGCCCAAGGGAGTGGGGGGGGGGCGGGGCCGGGCGCCCACCTCTTGAGGTGGCTGTAGACGCGCAATGCCGTCTCCTGCTCCTTGCGTGTGTCATGCAGGTGCATGCGGCAGGTGAAGCGCAGCTGGTGCTCAGCCAGACCCAGCTCTTTGAGGGCTTGCTCTGAGGACACCAGCCGGAAGTTCTGTGGGGCAGGGACAGGTCAGTGAGCGCAGCAGCGGCCCTCCCCCCTCCAGAGACCGTCCTGGCACTCACGCTGTCCTTCATGATCAGGGTGCCGTGCAGGAGCCGAGGCTTCTTGGCCTCAGGGAGCAGCCCTGCGGAGGAGGTGGCAGGAGCCATCAATGTGAGGGCCGCTCCCAGCCGCCTGCCCCGAGCACCCTGCCCTGCCCTGCCCAGCCCGCATACCCTGCGCCATCTCCCGCTTCAGCAGCCCCAGCGAGATGCCTACGGGGATGCTGGGGCTTGTGGGCAGCGTCACCGTCTCGCCATTGGCCGGCATGTAGCAGTTGACCCCTGGACCCCGGGGGAAGAGAGAGCCTCAGCCCAGGCTGCCCGTGCTGACCCGAGGTGGGCCCCACGCCGCCCGCCCGGCTGCCTACGGAGCTCCTGCTCGATCTTCTGCTTCAGGAACTCCATCTTCTTGGCCTCGCCATGCACCAGCAGCACGCTCTCCGGCTCTGCCTGGCCCACCAGCTGCATGATGCCCTTGGCGTCCGCGTGTGCGCTGAATGACATGTACTCCACCTGCATCTTGACCTCCAGCTACAGAGGCCACGGGGCGTGGACAGTGGTTACCACCAGGAGGTGCCCCTCGGCCCTGCCAGCCCAGTGCGGGGTCGAGACTCACCACCTGCCGCCCCTCCATCTCGAGCTTCCGCTGCCCGCTGAGGATCTTGTGGCCGACGGTGCCCTGCACGCAGTAGCCGGGCATGATGACCTGGGGGCAGGCACAGAGCTCACAGCCAGGGAACTCCAGCCTTGGCACCTCAAGGCCTTGCCCGGGATGCCCCCGCCTGAACCCCTGGAAGCTGTTTCCACCTGCCAGCGGCGCCCGACCAAGCCTAGCTGCAGACTCCAAAGGGCTCAGGTTTTGGCACAAGACTGTCCAGGGCTGGGCTGGGGCTGTTCTGCCCGAGGTGGACAAGCTGTGTCACAGAGACTGAGCAGCTCCAGGCGGACATCGCCCCCGTTCCCCAGCAGCAGCAGCCACGTCCCTTGGCCAGCACGAGGCCAAGCCAGTGAGAGCTCAGAGACAGCATGGGTGGAAGGACAACCCGTCGGCCTCCAGCTTCCAGATTCCCACACCTCACCATGCCCTCACCATGTTCTTTTCGTTTCCGGCCCATTTCCGGAAGATCTGCAGGGACTGCCCAGCGTGCAGCATTCCTGGCGTGGCAAACACAACCTACAGGACACACAGGGCCAGGTGGGGGGTCAGGGCAGCAGATGCCCCCACCCCCACTGCAGGCCCAAGCCCAGACACCTGCGGAAGACAGGAGACCGACGGGTGTGGATGTGCTGGCCGGCCCTGCCGCGGGCCTCACCATCGGTCCTGGGTTGTCAGCAAAAGCCCGGTCGAAGGCCTTGATGTGCTTGAACTCAAACATGTTCCTCTGCACGAAAGTCTTGCGGATCTTCTGGTTGGTCCAGGGGATGAACAGCTTGTAGTAGTGGTTGGCCTTCTCGGTCAGCCCCGTGGAGAAGTAGATGGGCACCTTCAGGTTCATGCGCTCCCTGGGGACCACCGGCCCAGTCAGCACAGTGGCCACAGGGGAGAATGCTGCAGGGCAGGACTCGGCCGGGTCACCCCCAACACCCGTGTCTGCACAGCCCACGCACGGGCCAGGTTGAGTCCAGTCGCGACCACTTGTCCCATTAAGCCCTGCAGCAGCCGGGCTCAGCGGAGAACCAGGAACCCCTACAAGAGCCGCACACGGTGGCGCTGACGGGATGTCACAGGCTTCCTGGGGTCACACAGCACACGAGCGGCCCCCCAGGACAGCAGCAAGCAGGGCCAAGATGCCACCGCTACGCTGGACAGGGCTGCCCACCAACTGGACTGTGTTCAGGCCGGGCCAGGGGCTCCTTAAAGAGCCGTCCTGGCGGCACCTACCAGAAGGTCTCCAGGAGGATGCAGAGCTCCTGGGCGC
Task1_train_26
This genomic variant is located on Chromosome 1, within the INTS11 (integrator complex subunit 11) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
GAGGATGACGGCTGTGCTGGTGGGTCACGGGCGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTGGTGGGTCACGGGCGGCTCTGGGTCACAGGTGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTGGTGGCCGTGGGGCTGGGGGCTTTGGCACCTGCCCAGGTGAAGACGATTCTGGAGAGCCAAGATCCCCTGGGCAAGCACCAGACACGTGTAGCCCCAGCCCACGGCTTATTCCTCAAGTCAGTGCTGTACGGGAACCTCGGTAAGAAAAACAGGCACGAGAAGCTCCTGTCATGTGCCCAGTGACTACTGTGGCCGAGGCATGGGGTGGGGGGCCAGGGGCCACTGACGGCAGCAACTGGGGGTGAAGCAGCCCCCCGCCCAGGGCTGCAGTCCCTCAGGCCAGCCCGTAGCCCGTCCTGGGCTGGCCCACTCCCTGGTCATGGGAGTGGTCTCAGCGGTGGGGAGGGTGCTGGGCCGGTCTTGCCCCAGGCTGACGCAGGGTCTGGTCCGTCCACAGGTGCTGCCTCCTGCACCCTGCAGGGGCCACAGTTCGGGAGCCACGGATGACCCTGGACACTCAAGCCAAAGTTAGGCCACACCAGGCCCAACCCTGTGCTGGTCAAGCCAGGGCAGTCACAGCTGCTTGGGGCCCACAGCACTGCTGCCTGGTCTCCACAGTAGCCTCCCTGCCCGGGTCCCAGCACCCTGGATGCCCGTCTCTGTCCCAGGCGGGATGGGGCACAGTGCAGGACACAGCCATGTACACCAAGAAGAGAGTACCAAGTAGTCTTTTGTTCAGCTTTTACTGGAAACTGCTGTCTAGGACCACCTGCCCTAACCAGGAATAAAGGCAAGACAGCCTGGAGACCAGTTTGTTTCTTCAGCTGCAAACAGCTGCCTGGGCAGGCAGGTGACACAAGGCCTCTGTCCCCAGGGATGGGACCTGCAGGGTCTGTTCACCCAGGGCACCCACAGTCCTGAAGTGCAGGCCCAGGGTCTGTCCAGCTGGGAGAGGGCAGAGGTGGCGGCTGGGTGAGTTGCCGGCCTCAGCTGGGGGCCTGGGGGAGGCCCTTCTTCAGCAGAGATGTGAGGAAGCTCCCCAGCTCCTCGTCCTAGGGCAGAGGCAAAAGCATTGTGGGTGGTGCAGGACAGGGAGGAATGTTGATACCTGTGTTGACCGCGGTGGGGTGGGGGTCACCCCTTACCTGGTAGGTCCAGGAGACCAGCAGCACCTTGGTGCCTGGGTCCTCAGAAGGGGCGGCGGCCTGGAGGAGGACGGACTCCACAGTCACAGAGCCGTCTGGGAGGTGCTGCACACAGTGGTCCTTCAGGACGCTGTGGGGAGGCTCGGTGAGACCCTGCCTGGCCTCCAGGGCCCAAGGGAGTGGGGGGGGGGCGGGGCCGGGCGCCCACCTCTTGAGGTGGCTGTAGACGCGCAATGCCGTCTCCTGCTCCTTGCGTGTGTCATGCAGGTGCACGCGGCAGGTGAAGCGCAGCTGGTGCTCAGCCAGACCCAGCTCTTTGAGGGCTTGCTCTGAGGACACCAGCCGGAAGTTCTGTGGGGCAGGGACAGGTCAGTGAGCGCAGCAGCGGCCCTCCCCCCTCCAGAGACCGTCCTGGCACTCACGCTGTCCTTCATGATCAGGGTGCCGTGCAGGAGCCGAGGCTTCTTGGCCTCAGGGAGCAGCCCTGCGGAGGAGGTGGCAGGAGCCATCAATGTGAGGGCCGCTCCCAGCCGCCTGCCCCGAGCACCCTGCCCTGCCCTGCCCAGCCCGCATACCCTGCGCCATCTCCCGCTTCAGCAGCCCCAGCGAGATGCCTACGGGGATGCTGGGGCTTGTGGGCAGCGTCACCGTCTCGCCATTGGCCGGCATGTAGCAGTTGACCCCTGGACCCCGGGGGAAGAGAGAGCCTCAGCCCAGGCTGCCCGTGCTGACCCGAGGTGGGCCCCACGCCGCCCGCCCGGCTGCCTACGGAGCTCCTGCTCGATCTTCTGCTTCAGGAACTCCATCTTCTTGGCCTCGCCATGCACCAGCAGCACGCTCTCCGGCTCTGCCTGGCCCACCAGCTGCATGATGCCCTTGGCGTCCGCGTGTGCGCTGAATGACATGTACTCCACCTGCATCTTGACCTCCAGCTACAGAGGCCACGGGGCGTGGACAGTGGTTACCACCAGGAGGTGCCCCTCGGCCCTGCCAGCCCAGTGCGGGGTCGAGACTCACCACCTGCCGCCCCTCCATCTCGAGCTTCCGCTGCCCGCTGAGGATCTTGTGGCCGACGGTGCCCTGCACGCAGTAGCCGGGCATGATGACCTGGGGGCAGGCACAGAGCTCACAGCCAGGGAACTCCAGCCTTGGCACCTCAAGGCCTTGCCCGGGATGCCCCCGCCTGAACCCCTGGAAGCTGTTTCCACCTGCCAGCGGCGCCCGACCAAGCCTAGCTGCAGACTCCAAAGGGCTCAGGTTTTGGCACAAGACTGTCCAGGGCTGGGCTGGGGCTGTTCTGCCCGAGGTGGACAAGCTGTGTCACAGAGACTGAGCAGCTCCAGGCGGACATCGCCCCCGTTCCCCAGCAGCAGCAGCCACGTCCCTTGGCCAGCACGAGGCCAAGCCAGTGAGAGCTCAGAGACAGCATGGGTGGAAGGACAACCCGTCGGCCTCCAGCTTCCAGATTCCCACACCTCACCATGCCCTCACCATGTTCTTTTCGTTTCCGGCCCATTTCCGGAAGATCTGCAGGGACTGCCCAGCGTGCAGCATTCCTGGCGTGGCAAACACAACCTACAGGACACACAGGGCCAGGTGGGGGGTCAGGGCAGCAGATGCCCCCACCCCCACTGCAGGCCCAAGCCCAGACACCTGCGGAAGACAGGAGACCGACGGGTGTGGATGTGCTGGCCGGCCCTGCCGCGGGCCTCACCATCGGTCCTGGGTTGTCAGCAAAAGCCCGGTCGAAGGCCTTGATGTGCTTGAACTCAAACATGTTCCTCTGCACGAAAGTCTTGCGGATCTTCTGGTTGGTCCAGGGGATGAACAGCTTGTAGTAGTGGTTGGCCTTCTCGGTCAGCCCCGTGGAGAAGTAGATGGGCACCTTCAGGTTCATGCGCTCCCTGGGGACCACCGGCCCAGTCAGCACAGTGGCCACAGGGGAGAATGCTGCAGGGCAGGACTCGGCCGGGTCACCCCCAACACCCGTGTCTGCACAGCCCACGCACGGGCCAGGTTGAGTCCAGTCGCGACCACTTGTCCCATTAAGCCCTGCAGCAGCCGGGCTCAGCGGAGAACCAGGAACCCCTACAAGAGCCGCACACGGTGGCGCTGACGGGATGTCACAGGCTTCCTGGGGTCACACAGCACACGAGCGGCCCCCCAGGACAGCAGCAAGCAGGGCCAAGATGCCACCGCTACGCTGGACAGGGCTGCCCACCAACTGGACTGTGTTCAGGCCGGGCCAGGGGCTCCTTAAAGAGCCGTCCTGGCGGCACCTACCAGAAGGTCTCCAGGAGGATGCAGAGCTCCTGGGCGCGGCCCAGCGCGAACACAGGTATCAGCACCTGAGGGGGACACAAGGCAGGAGCCCTGGGCACATGGCCCCTCGACACAGCAGGCAGCGTCCAGTGAGGGCACGGCCAGGTGCCCAAGAGCTGCGGCCTCATAGGGACCTTAGCCTCTCATCTGCTCCCAGTCCCGTCCCAGCCGCTCTCCAGAGACAGAAGGGAGCCGTATGAGAGACAGGAGGGAGCCGCATGAGAGACAGAAGGGAGCTGCATGAGAGACAGAAGGAGCCTGGCCAGGGCTTCGTCCGCACCTGAGGTAGGAGGGAAAAGGGGCTCCCTAGGAAAGGGTCTCTGAGTTTTCCTCCTCAATGTTGAGCAAATCTTCTTCCCTCCCTGCCTGAAAATGCAGTACCCCCCACCCTGAGACCCTGACCCATGCCAAGGGCAGCCAAGCCTGCCAGAAAGACCAGCCCAGCATGGCCGAGGGCCCATGTCCCCACCCCTGCTGCAGCTACCTTCCCACCACGCTCCACGGTCTCGTGGACTTTCTTCAGGAAGTCTCGCTCCCGGCAGCGCTTGG
GAGGATGACGGCTGTGCTGGTGGGTCACGGGCGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTGGTGGGTCACGGGCGGCTCTGGGTCACAGGTGGCTCTGGGTCACAGGTACGGAGGATGACGGCTGTGCTGGTGGCCGTGGGGCTGGGGGCTTTGGCACCTGCCCAGGTGAAGACGATTCTGGAGAGCCAAGATCCCCTGGGCAAGCACCAGACACGTGTAGCCCCAGCCCACGGCTTATTCCTCAAGTCAGTGCTGTACGGGAACCTCGGTAAGAAAAACAGGCACGAGAAGCTCCTGTCATGTGCCCAGTGACTACTGTGGCCGAGGCATGGGGTGGGGGGCCAGGGGCCACTGACGGCAGCAACTGGGGGTGAAGCAGCCCCCCGCCCAGGGCTGCAGTCCCTCAGGCCAGCCCGTAGCCCGTCCTGGGCTGGCCCACTCCCTGGTCATGGGAGTGGTCTCAGCGGTGGGGAGGGTGCTGGGCCGGTCTTGCCCCAGGCTGACGCAGGGTCTGGTCCGTCCACAGGTGCTGCCTCCTGCACCCTGCAGGGGCCACAGTTCGGGAGCCACGGATGACCCTGGACACTCAAGCCAAAGTTAGGCCACACCAGGCCCAACCCTGTGCTGGTCAAGCCAGGGCAGTCACAGCTGCTTGGGGCCCACAGCACTGCTGCCTGGTCTCCACAGTAGCCTCCCTGCCCGGGTCCCAGCACCCTGGATGCCCGTCTCTGTCCCAGGCGGGATGGGGCACAGTGCAGGACACAGCCATGTACACCAAGAAGAGAGTACCAAGTAGTCTTTTGTTCAGCTTTTACTGGAAACTGCTGTCTAGGACCACCTGCCCTAACCAGGAATAAAGGCAAGACAGCCTGGAGACCAGTTTGTTTCTTCAGCTGCAAACAGCTGCCTGGGCAGGCAGGTGACACAAGGCCTCTGTCCCCAGGGATGGGACCTGCAGGGTCTGTTCACCCAGGGCACCCACAGTCCTGAAGTGCAGGCCCAGGGTCTGTCCAGCTGGGAGAGGGCAGAGGTGGCGGCTGGGTGAGTTGCCGGCCTCAGCTGGGGGCCTGGGGGAGGCCCTTCTTCAGCAGAGATGTGAGGAAGCTCCCCAGCTCCTCGTCCTAGGGCAGAGGCAAAAGCATTGTGGGTGGTGCAGGACAGGGAGGAATGTTGATACCTGTGTTGACCGCGGTGGGGTGGGGGTCACCCCTTACCTGGTAGGTCCAGGAGACCAGCAGCACCTTGGTGCCTGGGTCCTCAGAAGGGGCGGCGGCCTGGAGGAGGACGGACTCCACAGTCACAGAGCCGTCTGGGAGGTGCTGCACACAGTGGTCCTTCAGGACGCTGTGGGGAGGCTCGGTGAGACCCTGCCTGGCCTCCAGGGCCCAAGGGAGTGGGGGGGGGGCGGGGCCGGGCGCCCACCTCTTGAGGTGGCTGTAGACGCGCAATGCCGTCTCCTGCTCCTTGCGTGTGTCATGCAGGTGCACGCGGCAGGTGAAGCGCAGCTGGTGCTCAGCCAGACCCAGCTCTTTGAGGGCTTGCTCTGAGGACACCAGCCGGAAGTTCTGTGGGGCAGGGACAGGTCAGTGAGCGCAGCAGCGGCCCTCCCCCCTCCAGAGACCGTCCTGGCACTCACGCTGTCCTTCATGATCAGGGTGCCGTGCAGGAGCCGAGGCTTCTTGGCCTCAGGGAGCAGCCCTGCGGAGGAGGTGGCAGGAGCCATCAATGTGAGGGCCGCTCCCAGCCGCCTGCCCCGAGCACCCTGCCCTGCCCTGCCCAGCCCGCATACCCTGCGCCATCTCCCGCTTCAGCAGCCCCAGCGAGATGCCTACGGGGATGCTGGGGCTTGTGGGCAGCGTCACCGTCTCGCCATTGGCCGGCATGTAGCAGTTGACCCCTGGACCCCGGGGGAAGAGAGAGCCTCAGCCCAGGCTGCCCGTGCTGACCCGAGGTGGGCCCCACGCCGCCCGCCCGGCTGCCTACGGAGCTCCTGCTCGATCTTCTGCTTCAGGAACTCCATCTTCTTGGCCTCGCCATACACCAGCAGCACGCTCTCCGGCTCTGCCTGGCCCACCAGCTGCATGATGCCCTTGGCGTCCGCGTGTGCGCTGAATGACATGTACTCCACCTGCATCTTGACCTCCAGCTACAGAGGCCACGGGGCGTGGACAGTGGTTACCACCAGGAGGTGCCCCTCGGCCCTGCCAGCCCAGTGCGGGGTCGAGACTCACCACCTGCCGCCCCTCCATCTCGAGCTTCCGCTGCCCGCTGAGGATCTTGTGGCCGACGGTGCCCTGCACGCAGTAGCCGGGCATGATGACCTGGGGGCAGGCACAGAGCTCACAGCCAGGGAACTCCAGCCTTGGCACCTCAAGGCCTTGCCCGGGATGCCCCCGCCTGAACCCCTGGAAGCTGTTTCCACCTGCCAGCGGCGCCCGACCAAGCCTAGCTGCAGACTCCAAAGGGCTCAGGTTTTGGCACAAGACTGTCCAGGGCTGGGCTGGGGCTGTTCTGCCCGAGGTGGACAAGCTGTGTCACAGAGACTGAGCAGCTCCAGGCGGACATCGCCCCCGTTCCCCAGCAGCAGCAGCCACGTCCCTTGGCCAGCACGAGGCCAAGCCAGTGAGAGCTCAGAGACAGCATGGGTGGAAGGACAACCCGTCGGCCTCCAGCTTCCAGATTCCCACACCTCACCATGCCCTCACCATGTTCTTTTCGTTTCCGGCCCATTTCCGGAAGATCTGCAGGGACTGCCCAGCGTGCAGCATTCCTGGCGTGGCAAACACAACCTACAGGACACACAGGGCCAGGTGGGGGGTCAGGGCAGCAGATGCCCCCACCCCCACTGCAGGCCCAAGCCCAGACACCTGCGGAAGACAGGAGACCGACGGGTGTGGATGTGCTGGCCGGCCCTGCCGCGGGCCTCACCATCGGTCCTGGGTTGTCAGCAAAAGCCCGGTCGAAGGCCTTGATGTGCTTGAACTCAAACATGTTCCTCTGCACGAAAGTCTTGCGGATCTTCTGGTTGGTCCAGGGGATGAACAGCTTGTAGTAGTGGTTGGCCTTCTCGGTCAGCCCCGTGGAGAAGTAGATGGGCACCTTCAGGTTCATGCGCTCCCTGGGGACCACCGGCCCAGTCAGCACAGTGGCCACAGGGGAGAATGCTGCAGGGCAGGACTCGGCCGGGTCACCCCCAACACCCGTGTCTGCACAGCCCACGCACGGGCCAGGTTGAGTCCAGTCGCGACCACTTGTCCCATTAAGCCCTGCAGCAGCCGGGCTCAGCGGAGAACCAGGAACCCCTACAAGAGCCGCACACGGTGGCGCTGACGGGATGTCACAGGCTTCCTGGGGTCACACAGCACACGAGCGGCCCCCCAGGACAGCAGCAAGCAGGGCCAAGATGCCACCGCTACGCTGGACAGGGCTGCCCACCAACTGGACTGTGTTCAGGCCGGGCCAGGGGCTCCTTAAAGAGCCGTCCTGGCGGCACCTACCAGAAGGTCTCCAGGAGGATGCAGAGCTCCTGGGCGCGGCCCAGCGCGAACACAGGTATCAGCACCTGAGGGGGACACAAGGCAGGAGCCCTGGGCACATGGCCCCTCGACACAGCAGGCAGCGTCCAGTGAGGGCACGGCCAGGTGCCCAAGAGCTGCGGCCTCATAGGGACCTTAGCCTCTCATCTGCTCCCAGTCCCGTCCCAGCCGCTCTCCAGAGACAGAAGGGAGCCGTATGAGAGACAGGAGGGAGCCGCATGAGAGACAGAAGGGAGCTGCATGAGAGACAGAAGGAGCCTGGCCAGGGCTTCGTCCGCACCTGAGGTAGGAGGGAAAAGGGGCTCCCTAGGAAAGGGTCTCTGAGTTTTCCTCCTCAATGTTGAGCAAATCTTCTTCCCTCCCTGCCTGAAAATGCAGTACCCCCCACCCTGAGACCCTGACCCATGCCAAGGGCAGCCAAGCCTGCCAGAAAGACCAGCCCAGCATGGCCGAGGGCCCATGTCCCCACCCCTGCTGCAGCTACCTTCCCACCACGCTCCACGGTCTCGTGGACTTTCTTCAGGAAGTCTCGCTCCCGGCAGCGCTTGG
Task1_train_27
This alteration occurs within gene INTS11 (integrator complex subunit 11) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
ACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTCAAGGTGAGCTGAGATCGCACCACTGCACTACAGCCTGGGCAATGAGAGCGAAACTCCATCTCAAAAAAAAAAGAAAAAAAAAAAGAATTCAACAGATGAATTTAACACCATATGACACATAACCAGAAGAGAATCCATGAACTGAAAGACACCAGAGGGAATATCCATCAGGAAACAGGAAAGACAAACAGATGACGGAGTTTCAAGAGGTTGAACGTCAGGCTCTCGGGGTCCCTGGAGGAGCAGGAACGGGGCAGAAACAACACTGGAAGAAACATGATGAAGGCCTCAAGCCACAGATCCAAGAGGCCTCAAACTCTAAACAGGCTGAGGATACATGTCAGCCCATCAGAGCACAAGCACCAAAAACCAAGGCTCCTGCTCAGACCCTACGGCTGCCCATGCCCAGAGACAGAACGTTGTTTGCAAAGTGCAGAGACAAAATACTGTCAACCTAAAATCTTACACACCTAAGGGAAAAAAAGTCCTTTAAGAACGAGGATAAAGTAAATCCATTTGCAGGCAAATAAATTTTTTTTTTTTGAGCCGGAGTCTCGCGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTTCAGCCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCACCACGCCCAGCTAATTTTTTTGTATTTTGTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAAGGCAAATAAAAATTGACAGAATTCAGCACCAGCAGACCCACACTCATATTCTTCAGGCAGAAGGCAAATTATCCCAAGTAAAAAGTAGAAAAAATGCAGGAAGCCCAACAAAAAGGATAAATATATAAATAAAACTAAGCAAATGTTGGTGTTACCAGGCATTAGAAATGATGTCTTTCTGGGTTTAAAATGTACTGAGGGAGTTGCCAGGTGTGGTGACTCATGCCTGTAATCCGAGCACTTTGAGAGGCTGAGGTGGGAGGATCCCTGGAGCCCAGCCCAGGAGTTCGAGAGCCTTAGCAACACATACCCATCTCTACAAAAAATACCAAAATAAATTAGCTGGGCGTATGGGCACATGCTTGTAGTCCCAGCTACTTGGGAGGCCGAGGTGGGAGATCACCTCAACCCGGGAGGCCGAGGCTGCAGTGAGCCAAGATCACACTCCAGCCTGGGTAACAAAGTGAGACACTGTCAAAAAAAAAAAAAAATTAAAGTTTCACAACAAAAAAGATAAACATACTTCATTTTGACAAGTTCAATCAGAAAATTAAATGTTCCAAAATACATAGGTACCTAATATAGTTTCAAGAAATATAAAAGCAATACCCAGAGATTCGAGTGAGACACAGACAAACCCATAATCTTTGTCAGAAATGGAATTTCACCTGTCACTCGCTGATTTAACCTTCACTTCTTCCCTGACCCACACCCAGAACCAGGCACCCTCCAGAGCTGGCCCATCTCCCCTCCAGCCCCTGCCTCCCTGCCCGGCAACACCCCGGGAGCTCCAGCGAGTCTCTGGCCGCTCCAAGCGCTCTGAGGGCACCAGCCTGTCCCACTCTGGCCATTTCAATGCCGCTCGGACAGAGCCTGGTGGGTTCATAAGCCGGTGCATACCCCCACCCTGCACGTGCTCTCCCGGGTCGGCGCCCAGTCTGGTCTGGGACCCGCATCCTCGCGCTGACGCCTCCTGGTGTCCCCACGGTGCTGGACGCAAGAGTGAGGTGGGGTGGGCTCACCCTGAGGCCCCAGCCTTCCAGAAACTGTGTAGAACGGGCGGAGGGCATGGTTGGTGTGGGGGTGGGCAGTGACTGTGCCAGCTGTGGCCCTGGGAACCTGACCTGGACCGTCTGGTGGAGGTGGACAGCCACCACCTTCTTCATGCAGTCTTTGATCATCTGGGAGGTGAAGAAGTTGGCCTCGCCCTTCTTGTCTACGGCGATCTTGCGGTAGTCCTCCAGCAAGATGGGGCAGATGGCCTGGGTGGGGTGAGTCATGTAGATGGGCCCGTCGTAGCCCACCATCTCGCTGAAGTAGGGGAGTGCCCCGCAGTGGTCCAGGTGGAAGTGGCTAGGGGGACGCAGCACAGGTCAGCCTGGGCCCACCCTGCCCCAGCCTTCACCCCCGCTCTGGGCTTGTGGGTCACTGGCCCCTTCATTCGCCTGCTGTGCGCCAGGCCTCATCCCGAGTACCGAAGAGTCAGTAATGAGCAAACACAAAACTGTCTCCCTGGAACTTTCAGTCTCAAAGTCTAGCAAGGCAATAAGCAAACGGGAAATTGAACACGTCGGTGACGGCGACATGCTCGCGAGACAATGCAAAGCTGCTGAGGGAACCGCGCATAGGGGAGCCGCTGGCTTTTCAGGCAGTCAGGACAGGCTGAGTGGAGCTGCAGGTGAAGGTGGCACAGACCTGAGGGCAAGGGCAGCGCCTGGCAAGCCCCAGGAAGGCACTGGGGACCCCACCGTGTCTGAGAAGAAACCACAACCACGAGGGGCTCAGGGGCAGCTGAGGACACTGCCTCCGGAGAGGAGAAGGGGCTTCTCCAGGCTTCACGGGCCTGGCTGCTGGGGAGGACAGGGCAGGGAAGGGCAGGGGGCCAGCAGGAGTGCTGTGGCCGTCCAGACGAGGCCACCCAGACCAGCGGGTCATGAGCTGCTGAACCCTAAAGGCTGGGGTCAGGGCAGACTCGGGACTCTGGAATCGCCAACAAGACAGTGGGGTTTAAAGATCCTGAGACAGTGAAGGCATCAGAGAGGGTGAAGCCTGGAGGGCCGGGTTCAGAAAGTAGGGTTCAGAGGGCAGGGCCGGAAGAACAGACAGAGACCAGGCCATGTGTGTGACCAGTAAGGCAGGCAGGGAGCAGATCCTGGGGCCTAGAAGCCCCCTGAGGATCAAGGATGGCACAGGCCCCTTGCCAAACGCTGCCGAGACCAAGCAAGGTGGCCCAAGCCCCACAGGCACAGACATGGGACCCTCAAGGCCCCCAACAGGAACCCACCTAATGATCACACAGTCCAGGAAGTCTGTTAGGCGGCCGTTCTGGGTGATGTAGGAGAAGTCAGGGAAGCGTCGCTAGGAAGGATGTGGGGGTTTCAGGTTGCACAGTGGTCTCCAGGCAGCATCTGGGGCCACCCATGCCCCAGGGAGGGGCCCCCAGGAAGGGGGGTTCTATGTGCAGACTCAGGCTGGGCACTCCCATCCCGCAGGTGGCACCAGGACCCCTGGCTGCTCACAGCATCCGGAGGGGCCGAGGTTACCCCCAACCTCACTGACAGATGTGAGCTGGAAGCTGAGCCCAGGGTCTCACGGAGTCCAGCCTACAGGACCCCGGGGCTGGGGCTCAGCGCCAGCACAGGGGGACCCCACCATGCAGGGGCTCACCTCGGCCAGGCCCACCCATCCCTGCTCCCCACAGGGTGCAGCCATCCAAGCACAACCACTGCTGCCCACCACCCCACTGTCCCGGCTCTGAGGCCCAGGGTCCAGCTGTGGATGGCCGGCTCTCCCAGCCTCTGGGCCTCCTGCCCAAGGGACTCACGTCGTCATTGAAGCCCATGTGCATTCCACAGTCCAGCATGACATTCTTGCCCGCAATGGAGACCAGGATGCAGCTTCGGCCCACGTCCTGGCCGGCCCCTACTCGAGGGAGGGCAGATGAGTCACTGCTGCGCCCCCCGCCCCCTGTGCTGCCTCCCCAAGCTCTGCAGGACCCCAGTGCACTGAGGAAACCGGACCAAGTCTGCTGTGTGGACAGACACATGGGCCAAGAAGCAGGGCCACCCCTACTCACAGGAAGGGGGACACAGGGGACCATGCCCCACACCATCATGTCCAGGGTGGAGGCTGGCAGCCCACACGCCCTCCCCCGCCAGCTTCCCCTGGCCTCTTAAGGTGGCCACGGCC
ACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTCAAGGTGAGCTGAGATCGCACCACTGCACTACAGCCTGGGCAATGAGAGCGAAACTCCATCTCAAAAAAAAAAGAAAAAAAAAAAGAATTCAACAGATGAATTTAACACCATATGACACATAACCAGAAGAGAATCCATGAACTGAAAGACACCAGAGGGAATATCCATCAGGAAACAGGAAAGACAAACAGATGACGGAGTTTCAAGAGGTTGAACGTCAGGCTCTCGGGGTCCCTGGAGGAGCAGGAACGGGGCAGAAACAACACTGGAAGAAACATGATGAAGGCCTCAAGCCACAGATCCAAGAGGCCTCAAACTCTAAACAGGCTGAGGATACATGTCAGCCCATCAGAGCACAAGCACCAAAAACCAAGGCTCCTGCTCAGACCCTACGGCTGCCCATGCCCAGAGACAGAACGTTGTTTGCAAAGTGCAGAGACAAAATACTGTCAACCTAAAATCTTACACACCTAAGGGAAAAAAAGTCCTTTAAGAACGAGGATAAAGTAAATCCATTTGCAGGCAAATAAATTTTTTTTTTTTGAGCCGGAGTCTCGCGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTTTCAGCCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCACCACGCCCAGCTAATTTTTTTGTATTTTGTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAAGGCAAATAAAAATTGACAGAATTCAGCACCAGCAGACCCACACTCATATTCTTCAGGCAGAAGGCAAATTATCCCAAGTAAAAAGTAGAAAAAATGCAGGAAGCCCAACAAAAAGGATAAATATATAAATAAAACTAAGCAAATGTTGGTGTTACCAGGCATTAGAAATGATGTCTTTCTGGGTTTAAAATGTACTGAGGGAGTTGCCAGGTGTGGTGACTCATGCCTGTAATCCGAGCACTTTGAGAGGCTGAGGTGGGAGGATCCCTGGAGCCCAGCCCAGGAGTTCGAGAGCCTTAGCAACACATACCCATCTCTACAAAAAATACCAAAATAAATTAGCTGGGCGTATGGGCACATGCTTGTAGTCCCAGCTACTTGGGAGGCCGAGGTGGGAGATCACCTCAACCCGGGAGGCCGAGGCTGCAGTGAGCCAAGATCACACTCCAGCCTGGGTAACAAAGTGAGACACTGTCAAAAAAAAAAAAAAATTAAAGTTTCACAACAAAAAAGATAAACATACTTCATTTTGACAAGTTCAATCAGAAAATTAAATGTTCCAAAATACATAGGTACCTAATATAGTTTCAAGAAATATAAAAGCAATACCCAGAGATTCGAGTGAGACACAGACAAACCCATAATCTTTGTCAGAAATGGAATTTCACCTGTCACTCGCTGATTTAACCTTCACTTCTTCCCTGACCCACACCCAGAACCAGGCACCCTCCAGAGCTGGCCCATCTCCCCTCCAGCCCCTGCCTCCCTGCCCGGCAACACCCCGGGAGCTCCAGCGAGTCTCTGGCCGCTCCAAGCGCTCTGAGGGCACCAGCCTGTCCCACTCTGGCCATTTCAATGCCGCTCGGACAGAGCCTGGTGGGTTCATAAGCCGGTGCATACCCCCACCCTGCACGTGCTCTCCCGGGTCGGCGCCCAGTCTGGTCTGGGACCCGCATCCTCGCGCTGACGCCTCCTGGTGTCCCCACGGTGCTGGACGCAAGAGTGAGGTGGGGTGGGCTCACCCTGAGGCCCCAGCCTTCCAGAAACTGTGTAGAACGGGCGGAGGGCATGGTTGGTGTGGGGGTGGGCAGTGACTGTGCCAGCTGTGGCCCTGGGAACCTGACCTGGACCGTCTGGTGGAAGTGGACAGCCACCACCTTCTTCATGCAGTCTTTGATCATCTGGGAGGTGAAGAAGTTGGCCTCGCCCTTCTTGTCTACGGCGATCTTGCGGTAGTCCTCCAGCAAGATGGGGCAGATGGCCTGGGTGGGGTGAGTCATGTAGATGGGCCCGTCGTAGCCCACCATCTCGCTGAAGTAGGGGAGTGCCCCGCAGTGGTCCAGGTGGAAGTGGCTAGGGGGACGCAGCACAGGTCAGCCTGGGCCCACCCTGCCCCAGCCTTCACCCCCGCTCTGGGCTTGTGGGTCACTGGCCCCTTCATTCGCCTGCTGTGCGCCAGGCCTCATCCCGAGTACCGAAGAGTCAGTAATGAGCAAACACAAAACTGTCTCCCTGGAACTTTCAGTCTCAAAGTCTAGCAAGGCAATAAGCAAACGGGAAATTGAACACGTCGGTGACGGCGACATGCTCGCGAGACAATGCAAAGCTGCTGAGGGAACCGCGCATAGGGGAGCCGCTGGCTTTTCAGGCAGTCAGGACAGGCTGAGTGGAGCTGCAGGTGAAGGTGGCACAGACCTGAGGGCAAGGGCAGCGCCTGGCAAGCCCCAGGAAGGCACTGGGGACCCCACCGTGTCTGAGAAGAAACCACAACCACGAGGGGCTCAGGGGCAGCTGAGGACACTGCCTCCGGAGAGGAGAAGGGGCTTCTCCAGGCTTCACGGGCCTGGCTGCTGGGGAGGACAGGGCAGGGAAGGGCAGGGGGCCAGCAGGAGTGCTGTGGCCGTCCAGACGAGGCCACCCAGACCAGCGGGTCATGAGCTGCTGAACCCTAAAGGCTGGGGTCAGGGCAGACTCGGGACTCTGGAATCGCCAACAAGACAGTGGGGTTTAAAGATCCTGAGACAGTGAAGGCATCAGAGAGGGTGAAGCCTGGAGGGCCGGGTTCAGAAAGTAGGGTTCAGAGGGCAGGGCCGGAAGAACAGACAGAGACCAGGCCATGTGTGTGACCAGTAAGGCAGGCAGGGAGCAGATCCTGGGGCCTAGAAGCCCCCTGAGGATCAAGGATGGCACAGGCCCCTTGCCAAACGCTGCCGAGACCAAGCAAGGTGGCCCAAGCCCCACAGGCACAGACATGGGACCCTCAAGGCCCCCAACAGGAACCCACCTAATGATCACACAGTCCAGGAAGTCTGTTAGGCGGCCGTTCTGGGTGATGTAGGAGAAGTCAGGGAAGCGTCGCTAGGAAGGATGTGGGGGTTTCAGGTTGCACAGTGGTCTCCAGGCAGCATCTGGGGCCACCCATGCCCCAGGGAGGGGCCCCCAGGAAGGGGGGTTCTATGTGCAGACTCAGGCTGGGCACTCCCATCCCGCAGGTGGCACCAGGACCCCTGGCTGCTCACAGCATCCGGAGGGGCCGAGGTTACCCCCAACCTCACTGACAGATGTGAGCTGGAAGCTGAGCCCAGGGTCTCACGGAGTCCAGCCTACAGGACCCCGGGGCTGGGGCTCAGCGCCAGCACAGGGGGACCCCACCATGCAGGGGCTCACCTCGGCCAGGCCCACCCATCCCTGCTCCCCACAGGGTGCAGCCATCCAAGCACAACCACTGCTGCCCACCACCCCACTGTCCCGGCTCTGAGGCCCAGGGTCCAGCTGTGGATGGCCGGCTCTCCCAGCCTCTGGGCCTCCTGCCCAAGGGACTCACGTCGTCATTGAAGCCCATGTGCATTCCACAGTCCAGCATGACATTCTTGCCCGCAATGGAGACCAGGATGCAGCTTCGGCCCACGTCCTGGCCGGCCCCTACTCGAGGGAGGGCAGATGAGTCACTGCTGCGCCCCCCGCCCCCTGTGCTGCCTCCCCAAGCTCTGCAGGACCCCAGTGCACTGAGGAAACCGGACCAAGTCTGCTGTGTGGACAGACACATGGGCCAAGAAGCAGGGCCACCCCTACTCACAGGAAGGGGGACACAGGGGACCATGCCCCACACCATCATGTCCAGGGTGGAGGCTGGCAGCCCACACGCCCTCCCCCGCCAGCTTCCCCTGGCCTCTTAAGGTGGCCACGGCC
Task1_train_28
Here’s a variant in INTS11 (integrator complex subunit 11) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; not specified
CCCAGCCCAGGAGTTCGAGAGCCTTAGCAACACATACCCATCTCTACAAAAAATACCAAAATAAATTAGCTGGGCGTATGGGCACATGCTTGTAGTCCCAGCTACTTGGGAGGCCGAGGTGGGAGATCACCTCAACCCGGGAGGCCGAGGCTGCAGTGAGCCAAGATCACACTCCAGCCTGGGTAACAAAGTGAGACACTGTCAAAAAAAAAAAAAAATTAAAGTTTCACAACAAAAAAGATAAACATACTTCATTTTGACAAGTTCAATCAGAAAATTAAATGTTCCAAAATACATAGGTACCTAATATAGTTTCAAGAAATATAAAAGCAATACCCAGAGATTCGAGTGAGACACAGACAAACCCATAATCTTTGTCAGAAATGGAATTTCACCTGTCACTCGCTGATTTAACCTTCACTTCTTCCCTGACCCACACCCAGAACCAGGCACCCTCCAGAGCTGGCCCATCTCCCCTCCAGCCCCTGCCTCCCTGCCCGGCAACACCCCGGGAGCTCCAGCGAGTCTCTGGCCGCTCCAAGCGCTCTGAGGGCACCAGCCTGTCCCACTCTGGCCATTTCAATGCCGCTCGGACAGAGCCTGGTGGGTTCATAAGCCGGTGCATACCCCCACCCTGCACGTGCTCTCCCGGGTCGGCGCCCAGTCTGGTCTGGGACCCGCATCCTCGCGCTGACGCCTCCTGGTGTCCCCACGGTGCTGGACGCAAGAGTGAGGTGGGGTGGGCTCACCCTGAGGCCCCAGCCTTCCAGAAACTGTGTAGAACGGGCGGAGGGCATGGTTGGTGTGGGGGTGGGCAGTGACTGTGCCAGCTGTGGCCCTGGGAACCTGACCTGGACCGTCTGGTGGAGGTGGACAGCCACCACCTTCTTCATGCAGTCTTTGATCATCTGGGAGGTGAAGAAGTTGGCCTCGCCCTTCTTGTCTACGGCGATCTTGCGGTAGTCCTCCAGCAAGATGGGGCAGATGGCCTGGGTGGGGTGAGTCATGTAGATGGGCCCGTCGTAGCCCACCATCTCGCTGAAGTAGGGGAGTGCCCCGCAGTGGTCCAGGTGGAAGTGGCTAGGGGGACGCAGCACAGGTCAGCCTGGGCCCACCCTGCCCCAGCCTTCACCCCCGCTCTGGGCTTGTGGGTCACTGGCCCCTTCATTCGCCTGCTGTGCGCCAGGCCTCATCCCGAGTACCGAAGAGTCAGTAATGAGCAAACACAAAACTGTCTCCCTGGAACTTTCAGTCTCAAAGTCTAGCAAGGCAATAAGCAAACGGGAAATTGAACACGTCGGTGACGGCGACATGCTCGCGAGACAATGCAAAGCTGCTGAGGGAACCGCGCATAGGGGAGCCGCTGGCTTTTCAGGCAGTCAGGACAGGCTGAGTGGAGCTGCAGGTGAAGGTGGCACAGACCTGAGGGCAAGGGCAGCGCCTGGCAAGCCCCAGGAAGGCACTGGGGACCCCACCGTGTCTGAGAAGAAACCACAACCACGAGGGGCTCAGGGGCAGCTGAGGACACTGCCTCCGGAGAGGAGAAGGGGCTTCTCCAGGCTTCACGGGCCTGGCTGCTGGGGAGGACAGGGCAGGGAAGGGCAGGGGGCCAGCAGGAGTGCTGTGGCCGTCCAGACGAGGCCACCCAGACCAGCGGGTCATGAGCTGCTGAACCCTAAAGGCTGGGGTCAGGGCAGACTCGGGACTCTGGAATCGCCAACAAGACAGTGGGGTTTAAAGATCCTGAGACAGTGAAGGCATCAGAGAGGGTGAAGCCTGGAGGGCCGGGTTCAGAAAGTAGGGTTCAGAGGGCAGGGCCGGAAGAACAGACAGAGACCAGGCCATGTGTGTGACCAGTAAGGCAGGCAGGGAGCAGATCCTGGGGCCTAGAAGCCCCCTGAGGATCAAGGATGGCACAGGCCCCTTGCCAAACGCTGCCGAGACCAAGCAAGGTGGCCCAAGCCCCACAGGCACAGACATGGGACCCTCAAGGCCCCCAACAGGAACCCACCTAATGATCACACAGTCCAGGAAGTCTGTTAGGCGGCCGTTCTGGGTGATGTAGGAGAAGTCAGGGAAGCGTCGCTAGGAAGGATGTGGGGGTTTCAGGTTGCACAGTGGTCTCCAGGCAGCATCTGGGGCCACCCATGCCCCAGGGAGGGGCCCCCAGGAAGGGGGGTTCTATGTGCAGACTCAGGCTGGGCACTCCCATCCCGCAGGTGGCACCAGGACCCCTGGCTGCTCACAGCATCCGGAGGGGCCGAGGTTACCCCCAACCTCACTGACAGATGTGAGCTGGAAGCTGAGCCCAGGGTCTCACGGAGTCCAGCCTACAGGACCCCGGGGCTGGGGCTCAGCGCCAGCACAGGGGGACCCCACCATGCAGGGGCTCACCTCGGCCAGGCCCACCCATCCCTGCTCCCCACAGGGTGCAGCCATCCAAGCACAACCACTGCTGCCCACCACCCCACTGTCCCGGCTCTGAGGCCCAGGGTCCAGCTGTGGATGGCCGGCTCTCCCAGCCTCTGGGCCTCCTGCCCAAGGGACTCACGTCGTCATTGAAGCCCATGTGCATTCCACAGTCCAGCATGACATTCTTGCCCGCAATGGAGACCAGGATGCAGCTTCGGCCCACGTCCTGGCCGGCCCCTACTCGAGGGAGGGCAGATGAGTCACTGCTGCGCCCCCCGCCCCCTGTGCTGCCTCCCCAAGCTCTGCAGGACCCCAGTGCACTGAGGAAACCGGACCAAGTCTGCTGTGTGGACAGACACATGGGCCAAGAAGCAGGGCCACCCCTACTCACAGGAAGGGGGACACAGGGGACCATGCCCCACACCATCATGTCCAGGGTGGAGGCTGGCAGCCCACACGCCCTCCCCCGCCAGCTTCCCCTGGCCTCTTAAGGTGGCCACGGCCTGCTGGCTAAGTAGTGGGCACTGTGCTGTGGCCCTCAGCCTCCAACAGAGACAACGGCTGGTCTGTGGGGCCAACACCTCGGTCAGAGTCACTCCTGGGCTGTGGCTGGACCCCCAGCAGAGCTGCAAACCAATGAGGCCACCTTCTCCAGGATCTTTCCCCAGGCAGGCAAGGCAGTAAGTGACTAAGTGCTGGCACTGGGTGTTCTCTGGTGGTGCGGCTGTGGAGGGGCGCCACACAGCCTCAGCCATGCCATAGCGAACACGGTGCCAGTGGTCCAGCAGTGGCCAGCGTGGCAACACGAGCCTCACACCACTGCACACCATGCAGCCCCCAACACAGACCCTCATCTGCAGCCCTCCCACACTCCTGACAGCCAAGCAGCCCTGCCCAGCTGCTCCAGCCAGAGGCCTTGGCCAGCCAAGGCACACTCAGCCCCCTCATGTGGCCTGGGGGCCCGAGAGGAAAGGGTCACGGCCCCTGCACAGACTGTGCCTGGGCAGGAGTCTGATGGCAGTGAACAGTTTTCCCCTTGAATCCCACCCACCTCCCCCTGCCAGCCACTCGAAGTGTCCAAAGCCAGCACCACACATCAGGATGACGGGGCCACAGCCGAGGGGCTGCCTGCCACAGAGAGGGGATCTCAGGTTCTCTTCCAGGCCTGTTCCTGCCCCCGCTGGGTGTGAGCTCTCTGAGAGCAGGGTCTCAGCTGTCTCCTCCCTCTGCATCTCCTACCCCAAGCCACGCCAGGCTCACAGAGGCCCTCTGGCACCTGTGGGAAGGGAGGGCCGCCCCTCTTCATGCCCAGGGACCTAAGGCCACAGAGGCACTTGTGGCACACGGCCCCGAGGCATGGGGCCCGGGCTGGTTTTCTGAATTCCAAAGCCCAGTCCTGAAGTACTGGCAGTCCCGCCTCCCGACAGGACCCACAGTGATCCCAGGAAGGAAAGTGGAAAGGTGCGGGAATAGAGCCTGGAGATACACGAGGGGACAGGGCTCAGAAGACAGGAGGAGATATCCCTGTCAGCAAGGAGACAGACGGCAGACAAACAAGACACCCAAAGCACGCCAGACGAAGGTTACTATGACAGAAAAGAGCAAGGTGAGAGAATGAGGAAGCCTCAAAACTTCCAGAACCATGACAGGAGACTGCTCCGAGAAGCCAACTTTTGAGCAGGGG
CCCAGCCCAGGAGTTCGAGAGCCTTAGCAACACATACCCATCTCTACAAAAAATACCAAAATAAATTAGCTGGGCGTATGGGCACATGCTTGTAGTCCCAGCTACTTGGGAGGCCGAGGTGGGAGATCACCTCAACCCGGGAGGCCGAGGCTGCAGTGAGCCAAGATCACACTCCAGCCTGGGTAACAAAGTGAGACACTGTCAAAAAAAAAAAAAAATTAAAGTTTCACAACAAAAAAGATAAACATACTTCATTTTGACAAGTTCAATCAGAAAATTAAATGTTCCAAAATACATAGGTACCTAATATAGTTTCAAGAAATATAAAAGCAATACCCAGAGATTCGAGTGAGACACAGACAAACCCATAATCTTTGTCAGAAATGGAATTTCACCTGTCACTCGCTGATTTAACCTTCACTTCTTCCCTGACCCACACCCAGAACCAGGCACCCTCCAGAGCTGGCCCATCTCCCCTCCAGCCCCTGCCTCCCTGCCCGGCAACACCCCGGGAGCTCCAGCGAGTCTCTGGCCGCTCCAAGCGCTCTGAGGGCACCAGCCTGTCCCACTCTGGCCATTTCAATGCCGCTCGGACAGAGCCTGGTGGGTTCATAAGCCGGTGCATACCCCCACCCTGCACGTGCTCTCCCGGGTCGGCGCCCAGTCTGGTCTGGGACCCGCATCCTCGCGCTGACGCCTCCTGGTGTCCCCACGGTGCTGGACGCAAGAGTGAGGTGGGGTGGGCTCACCCTGAGGCCCCAGCCTTCCAGAAACTGTGTAGAACGGGCGGAGGGCATGGTTGGTGTGGGGGTGGGCAGTGACTGTGCCAGCTGTGGCCCTGGGAACCTGACCTGGACCGTCTGGTGGAGGTGGACAGCCACCACCTTCTTCATGCAGTCTTTGATCATCTGGGAGGTGAAGAAGTTGGCCTCGCCCTTCTTGTCTACGGCGATCTTGCGGTAGTCCTCCAGCAAGATGGGGCAGATGGCCTGGGTGGGGTGAGTCATGTAGATGGGCCCGTCGTAGCCCACCATCTCGCTGAAGTAGGGGAGTGCCCCGCAGTGGTCCAGGTGGAAGTGGCTAGGGGGACGCAGCACAGGTCAGCCTGGGCCCACCCTGCCCCAGCCTTCACCCCCGCTCTGGGCTTGTGGGTCACTGGCCCCTTCATTCGCCTGCTGTGCGCCAGGCCTCATCCCGAGTACCGAAGAGTCAGTAATGAGCAAACACAAAACTGTCTCCCTGGAACTTTCAGTCTCAAAGTCTAGCAAGGCAATAAGCAAACGGGAAATTGAACACGTCGGTGACGGCGACATGCTCGCGAGACAATGCAAAGCTGCTGAGGGAACCGCGCATAGGGGAGCCGCTGGCTTTTCAGGCAGTCAGGACAGGCTGAGTGGAGCTGCAGGTGAAGGTGGCACAGACCTGAGGGCAAGGGCAGCGCCTGGCAAGCCCCAGGAAGGCACTGGGGACCCCACCGTGTCTGAGAAGAAACCACAACCACGAGGGGCTCAGGGGCAGCTGAGGACACTGCCTCCGGAGAGGAGAAGGGGCTTCTCCAGGCTTCACGGGCCTGGCTGCTGGGGAGGACAGGGCAGGGAAGGGCAGGGGGCCAGCAGGAGTGCTGTGGCCGTCCAGACGAGGCCACCCAGACCAGCGGGTCATGAGCTGCTGAACCCTAAAGGCTGGGGTCAGGGCAGACTCGGGACTCTGGAATCGCCAACAAGACAGTGGGGTTTAAAGATCCTGAGACAGTGAAGGCATCAGAGAGGGTGAAGCCTGGAGGGCCGGGTTCAGAAAGTAGGGTTCAGAGGGCAGGGCCGGAAGAACAGACAGAGACCAGGCCATGTGTGTGACCAGTAAGGCAGGCAGGGAGCAGATCCTGGGGCCTAGAAGCCCCCTGAGGATCAAGGATGGCACAGGCCCCTTGCCAAACGCTGCCGAGACCAAGCAAGGTGGCCCAAGCCCCACAGGCACAGACATGGGACCCTCAAGGCCCCCAACAGGAACCCACCTAATGATCACACAGTCCAGGAAGTCTGTTAGGCGGCTGTTCTGGGTGATGTAGGAGAAGTCAGGGAAGCGTCGCTAGGAAGGATGTGGGGGTTTCAGGTTGCACAGTGGTCTCCAGGCAGCATCTGGGGCCACCCATGCCCCAGGGAGGGGCCCCCAGGAAGGGGGGTTCTATGTGCAGACTCAGGCTGGGCACTCCCATCCCGCAGGTGGCACCAGGACCCCTGGCTGCTCACAGCATCCGGAGGGGCCGAGGTTACCCCCAACCTCACTGACAGATGTGAGCTGGAAGCTGAGCCCAGGGTCTCACGGAGTCCAGCCTACAGGACCCCGGGGCTGGGGCTCAGCGCCAGCACAGGGGGACCCCACCATGCAGGGGCTCACCTCGGCCAGGCCCACCCATCCCTGCTCCCCACAGGGTGCAGCCATCCAAGCACAACCACTGCTGCCCACCACCCCACTGTCCCGGCTCTGAGGCCCAGGGTCCAGCTGTGGATGGCCGGCTCTCCCAGCCTCTGGGCCTCCTGCCCAAGGGACTCACGTCGTCATTGAAGCCCATGTGCATTCCACAGTCCAGCATGACATTCTTGCCCGCAATGGAGACCAGGATGCAGCTTCGGCCCACGTCCTGGCCGGCCCCTACTCGAGGGAGGGCAGATGAGTCACTGCTGCGCCCCCCGCCCCCTGTGCTGCCTCCCCAAGCTCTGCAGGACCCCAGTGCACTGAGGAAACCGGACCAAGTCTGCTGTGTGGACAGACACATGGGCCAAGAAGCAGGGCCACCCCTACTCACAGGAAGGGGGACACAGGGGACCATGCCCCACACCATCATGTCCAGGGTGGAGGCTGGCAGCCCACACGCCCTCCCCCGCCAGCTTCCCCTGGCCTCTTAAGGTGGCCACGGCCTGCTGGCTAAGTAGTGGGCACTGTGCTGTGGCCCTCAGCCTCCAACAGAGACAACGGCTGGTCTGTGGGGCCAACACCTCGGTCAGAGTCACTCCTGGGCTGTGGCTGGACCCCCAGCAGAGCTGCAAACCAATGAGGCCACCTTCTCCAGGATCTTTCCCCAGGCAGGCAAGGCAGTAAGTGACTAAGTGCTGGCACTGGGTGTTCTCTGGTGGTGCGGCTGTGGAGGGGCGCCACACAGCCTCAGCCATGCCATAGCGAACACGGTGCCAGTGGTCCAGCAGTGGCCAGCGTGGCAACACGAGCCTCACACCACTGCACACCATGCAGCCCCCAACACAGACCCTCATCTGCAGCCCTCCCACACTCCTGACAGCCAAGCAGCCCTGCCCAGCTGCTCCAGCCAGAGGCCTTGGCCAGCCAAGGCACACTCAGCCCCCTCATGTGGCCTGGGGGCCCGAGAGGAAAGGGTCACGGCCCCTGCACAGACTGTGCCTGGGCAGGAGTCTGATGGCAGTGAACAGTTTTCCCCTTGAATCCCACCCACCTCCCCCTGCCAGCCACTCGAAGTGTCCAAAGCCAGCACCACACATCAGGATGACGGGGCCACAGCCGAGGGGCTGCCTGCCACAGAGAGGGGATCTCAGGTTCTCTTCCAGGCCTGTTCCTGCCCCCGCTGGGTGTGAGCTCTCTGAGAGCAGGGTCTCAGCTGTCTCCTCCCTCTGCATCTCCTACCCCAAGCCACGCCAGGCTCACAGAGGCCCTCTGGCACCTGTGGGAAGGGAGGGCCGCCCCTCTTCATGCCCAGGGACCTAAGGCCACAGAGGCACTTGTGGCACACGGCCCCGAGGCATGGGGCCCGGGCTGGTTTTCTGAATTCCAAAGCCCAGTCCTGAAGTACTGGCAGTCCCGCCTCCCGACAGGACCCACAGTGATCCCAGGAAGGAAAGTGGAAAGGTGCGGGAATAGAGCCTGGAGATACACGAGGGGACAGGGCTCAGAAGACAGGAGGAGATATCCCTGTCAGCAAGGAGACAGACGGCAGACAAACAAGACACCCAAAGCACGCCAGACGAAGGTTACTATGACAGAAAAGAGCAAGGTGAGAGAATGAGGAAGCCTCAAAACTTCCAGAACCATGACAGGAGACTGCTCCGAGAAGCCAACTTTTGAGCAGGGG
Task1_train_29
The gene INTS11 (integrator complex subunit 11) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
TCAATGCCGCTCGGACAGAGCCTGGTGGGTTCATAAGCCGGTGCATACCCCCACCCTGCACGTGCTCTCCCGGGTCGGCGCCCAGTCTGGTCTGGGACCCGCATCCTCGCGCTGACGCCTCCTGGTGTCCCCACGGTGCTGGACGCAAGAGTGAGGTGGGGTGGGCTCACCCTGAGGCCCCAGCCTTCCAGAAACTGTGTAGAACGGGCGGAGGGCATGGTTGGTGTGGGGGTGGGCAGTGACTGTGCCAGCTGTGGCCCTGGGAACCTGACCTGGACCGTCTGGTGGAGGTGGACAGCCACCACCTTCTTCATGCAGTCTTTGATCATCTGGGAGGTGAAGAAGTTGGCCTCGCCCTTCTTGTCTACGGCGATCTTGCGGTAGTCCTCCAGCAAGATGGGGCAGATGGCCTGGGTGGGGTGAGTCATGTAGATGGGCCCGTCGTAGCCCACCATCTCGCTGAAGTAGGGGAGTGCCCCGCAGTGGTCCAGGTGGAAGTGGCTAGGGGGACGCAGCACAGGTCAGCCTGGGCCCACCCTGCCCCAGCCTTCACCCCCGCTCTGGGCTTGTGGGTCACTGGCCCCTTCATTCGCCTGCTGTGCGCCAGGCCTCATCCCGAGTACCGAAGAGTCAGTAATGAGCAAACACAAAACTGTCTCCCTGGAACTTTCAGTCTCAAAGTCTAGCAAGGCAATAAGCAAACGGGAAATTGAACACGTCGGTGACGGCGACATGCTCGCGAGACAATGCAAAGCTGCTGAGGGAACCGCGCATAGGGGAGCCGCTGGCTTTTCAGGCAGTCAGGACAGGCTGAGTGGAGCTGCAGGTGAAGGTGGCACAGACCTGAGGGCAAGGGCAGCGCCTGGCAAGCCCCAGGAAGGCACTGGGGACCCCACCGTGTCTGAGAAGAAACCACAACCACGAGGGGCTCAGGGGCAGCTGAGGACACTGCCTCCGGAGAGGAGAAGGGGCTTCTCCAGGCTTCACGGGCCTGGCTGCTGGGGAGGACAGGGCAGGGAAGGGCAGGGGGCCAGCAGGAGTGCTGTGGCCGTCCAGACGAGGCCACCCAGACCAGCGGGTCATGAGCTGCTGAACCCTAAAGGCTGGGGTCAGGGCAGACTCGGGACTCTGGAATCGCCAACAAGACAGTGGGGTTTAAAGATCCTGAGACAGTGAAGGCATCAGAGAGGGTGAAGCCTGGAGGGCCGGGTTCAGAAAGTAGGGTTCAGAGGGCAGGGCCGGAAGAACAGACAGAGACCAGGCCATGTGTGTGACCAGTAAGGCAGGCAGGGAGCAGATCCTGGGGCCTAGAAGCCCCCTGAGGATCAAGGATGGCACAGGCCCCTTGCCAAACGCTGCCGAGACCAAGCAAGGTGGCCCAAGCCCCACAGGCACAGACATGGGACCCTCAAGGCCCCCAACAGGAACCCACCTAATGATCACACAGTCCAGGAAGTCTGTTAGGCGGCCGTTCTGGGTGATGTAGGAGAAGTCAGGGAAGCGTCGCTAGGAAGGATGTGGGGGTTTCAGGTTGCACAGTGGTCTCCAGGCAGCATCTGGGGCCACCCATGCCCCAGGGAGGGGCCCCCAGGAAGGGGGGTTCTATGTGCAGACTCAGGCTGGGCACTCCCATCCCGCAGGTGGCACCAGGACCCCTGGCTGCTCACAGCATCCGGAGGGGCCGAGGTTACCCCCAACCTCACTGACAGATGTGAGCTGGAAGCTGAGCCCAGGGTCTCACGGAGTCCAGCCTACAGGACCCCGGGGCTGGGGCTCAGCGCCAGCACAGGGGGACCCCACCATGCAGGGGCTCACCTCGGCCAGGCCCACCCATCCCTGCTCCCCACAGGGTGCAGCCATCCAAGCACAACCACTGCTGCCCACCACCCCACTGTCCCGGCTCTGAGGCCCAGGGTCCAGCTGTGGATGGCCGGCTCTCCCAGCCTCTGGGCCTCCTGCCCAAGGGACTCACGTCGTCATTGAAGCCCATGTGCATTCCACAGTCCAGCATGACATTCTTGCCCGCAATGGAGACCAGGATGCAGCTTCGGCCCACGTCCTGGCCGGCCCCTACTCGAGGGAGGGCAGATGAGTCACTGCTGCGCCCCCCGCCCCCTGTGCTGCCTCCCCAAGCTCTGCAGGACCCCAGTGCACTGAGGAAACCGGACCAAGTCTGCTGTGTGGACAGACACATGGGCCAAGAAGCAGGGCCACCCCTACTCACAGGAAGGGGGACACAGGGGACCATGCCCCACACCATCATGTCCAGGGTGGAGGCTGGCAGCCCACACGCCCTCCCCCGCCAGCTTCCCCTGGCCTCTTAAGGTGGCCACGGCCTGCTGGCTAAGTAGTGGGCACTGTGCTGTGGCCCTCAGCCTCCAACAGAGACAACGGCTGGTCTGTGGGGCCAACACCTCGGTCAGAGTCACTCCTGGGCTGTGGCTGGACCCCCAGCAGAGCTGCAAACCAATGAGGCCACCTTCTCCAGGATCTTTCCCCAGGCAGGCAAGGCAGTAAGTGACTAAGTGCTGGCACTGGGTGTTCTCTGGTGGTGCGGCTGTGGAGGGGCGCCACACAGCCTCAGCCATGCCATAGCGAACACGGTGCCAGTGGTCCAGCAGTGGCCAGCGTGGCAACACGAGCCTCACACCACTGCACACCATGCAGCCCCCAACACAGACCCTCATCTGCAGCCCTCCCACACTCCTGACAGCCAAGCAGCCCTGCCCAGCTGCTCCAGCCAGAGGCCTTGGCCAGCCAAGGCACACTCAGCCCCCTCATGTGGCCTGGGGGCCCGAGAGGAAAGGGTCACGGCCCCTGCACAGACTGTGCCTGGGCAGGAGTCTGATGGCAGTGAACAGTTTTCCCCTTGAATCCCACCCACCTCCCCCTGCCAGCCACTCGAAGTGTCCAAAGCCAGCACCACACATCAGGATGACGGGGCCACAGCCGAGGGGCTGCCTGCCACAGAGAGGGGATCTCAGGTTCTCTTCCAGGCCTGTTCCTGCCCCCGCTGGGTGTGAGCTCTCTGAGAGCAGGGTCTCAGCTGTCTCCTCCCTCTGCATCTCCTACCCCAAGCCACGCCAGGCTCACAGAGGCCCTCTGGCACCTGTGGGAAGGGAGGGCCGCCCCTCTTCATGCCCAGGGACCTAAGGCCACAGAGGCACTTGTGGCACACGGCCCCGAGGCATGGGGCCCGGGCTGGTTTTCTGAATTCCAAAGCCCAGTCCTGAAGTACTGGCAGTCCCGCCTCCCGACAGGACCCACAGTGATCCCAGGAAGGAAAGTGGAAAGGTGCGGGAATAGAGCCTGGAGATACACGAGGGGACAGGGCTCAGAAGACAGGAGGAGATATCCCTGTCAGCAAGGAGACAGACGGCAGACAAACAAGACACCCAAAGCACGCCAGACGAAGGTTACTATGACAGAAAAGAGCAAGGTGAGAGAATGAGGAAGCCTCAAAACTTCCAGAACCATGACAGGAGACTGCTCCGAGAAGCCAACTTTTGAGCAGGGGAGGGGAGGGGTAGGGTGGGGGAGGGGGAGGGACGGGGTGGGGAAGGGATGGTCCAGGGGAGGAGAAGAAGCGGGGCGGGCGGAGGGAGGACAGGCAGCAGGGAGGGACAGGCAGGGGGGAGGGAAGGGACCAGCAGGGGGAGGGACGGGCAGGGTGGGTGGGGGGACCGGCGGTGGGGAGGGATGGGCAGGGTGGGTAGGGGGACCGGCGGCGGGGGGGGTAGCCACACACAGGCCAAGGCGTGGGAGTGACCCCAAGGACACAGCAGTGGTCCAGTGAGCGCGGACACGGAGCCCGAGGCAGTCCCTGGTGCAGGGAAGCGGTGAAACAGGACTTCGGCTTTGATGATACCTTGGCTGAGGTGACCTTGAGAATATACCCAGGTACAGATTGCGGGTAATTGAAGCCACATGAAAGATCAGAAAGATCAGATGTCCAGAGAGTGGGCAGAACAGGCAGCCAAGAGGCCAAATGGGAAAGGGGCAGGCTGGGAGGACCCCACGGAGGACCCAGAGAGCAGGGGAGGGCAGTGGGGCCCATGCAAACAGCTGCAAAATGCCATGGGGTGTGCACAGGCCA
TCAATGCCGCTCGGACAGAGCCTGGTGGGTTCATAAGCCGGTGCATACCCCCACCCTGCACGTGCTCTCCCGGGTCGGCGCCCAGTCTGGTCTGGGACCCGCATCCTCGCGCTGACGCCTCCTGGTGTCCCCACGGTGCTGGACGCAAGAGTGAGGTGGGGTGGGCTCACCCTGAGGCCCCAGCCTTCCAGAAACTGTGTAGAACGGGCGGAGGGCATGGTTGGTGTGGGGGTGGGCAGTGACTGTGCCAGCTGTGGCCCTGGGAACCTGACCTGGACCGTCTGGTGGAGGTGGACAGCCACCACCTTCTTCATGCAGTCTTTGATCATCTGGGAGGTGAAGAAGTTGGCCTCGCCCTTCTTGTCTACGGCGATCTTGCGGTAGTCCTCCAGCAAGATGGGGCAGATGGCCTGGGTGGGGTGAGTCATGTAGATGGGCCCGTCGTAGCCCACCATCTCGCTGAAGTAGGGGAGTGCCCCGCAGTGGTCCAGGTGGAAGTGGCTAGGGGGACGCAGCACAGGTCAGCCTGGGCCCACCCTGCCCCAGCCTTCACCCCCGCTCTGGGCTTGTGGGTCACTGGCCCCTTCATTCGCCTGCTGTGCGCCAGGCCTCATCCCGAGTACCGAAGAGTCAGTAATGAGCAAACACAAAACTGTCTCCCTGGAACTTTCAGTCTCAAAGTCTAGCAAGGCAATAAGCAAACGGGAAATTGAACACGTCGGTGACGGCGACATGCTCGCGAGACAATGCAAAGCTGCTGAGGGAACCGCGCATAGGGGAGCCGCTGGCTTTTCAGGCAGTCAGGACAGGCTGAGTGGAGCTGCAGGTGAAGGTGGCACAGACCTGAGGGCAAGGGCAGCGCCTGGCAAGCCCCAGGAAGGCACTGGGGACCCCACCGTGTCTGAGAAGAAACCACAACCACGAGGGGCTCAGGGGCAGCTGAGGACACTGCCTCCGGAGAGGAGAAGGGGCTTCTCCAGGCTTCACGGGCCTGGCTGCTGGGGAGGACAGGGCAGGGAAGGGCAGGGGGCCAGCAGGAGTGCTGTGGCCGTCCAGACGAGGCCACCCAGACCAGCGGGTCATGAGCTGCTGAACCCTAAAGGCTGGGGTCAGGGCAGACTCGGGACTCTGGAATCGCCAACAAGACAGTGGGGTTTAAAGATCCTGAGACAGTGAAGGCATCAGAGAGGGTGAAGCCTGGAGGGCCGGGTTCAGAAAGTAGGGTTCAGAGGGCAGGGCCGGAAGAACAGACAGAGACCAGGCCATGTGTGTGACCAGTAAGGCAGGCAGGGAGCAGATCCTGGGGCCTAGAAGCCCCCTGAGGATCAAGGATGGCACAGGCCCCTTGCCAAACGCTGCCGAGACCAAGCAAGGTGGCCCAAGCCCCACAGGCACAGACATGGGACCCTCAAGGCCCCCAACAGGAACCCACCTAATGATCACACAGTCCAGGAAGTCTGTTAGGCGGCCGTTCTGGGTGATGTAGGAGAAGTCAGGGAAGCGTCGCTAGGAAGGATGTGGGGGTTTCAGGTTGCACAGTGGTCTCCAGGCAGCATCTGGGGCCACCCATGCCCCAGGGAGGGGCCCCCAGGAAGGGGGGTTCTATGTGCAGACTCAGGCTGGGCACTCCCATCCCGCAGGTGGCACCAGGACCCCTGGCTGCTCACAGCATCCGGAGGGGCCGAGGTTACCCCCAACCTCACTGACAGATGTGAGCTGGAAGCTGAGCCCAGGGTCTCACGGAGTCCAGCCTACAGGACCCCGGGGCTGGGGCTCAGCGCCAGCACAGGGGGACCCCACCATGCAGGGGCTCACCTCGGCCAGGCCCACCCATCCCTGCTCCCCACAGGGTGCAGCCATCCAAGCACAACCACTGCTGCCCACCACCCCACTGTCCCGGCTCTGAGGCCCAGGGTCCAGCTGTGGATGGCCGGCTCTCCCAGCCTCTGGGCCTCCTGCCCAAGGGACTCACGTCGTCATTGAAGCCCATGTGCATTCCACAGTCCAGCATGACATTCTTGCCCGCAATGGAGACCAGGATGCAGCTTAGGCCCACGTCCTGGCCGGCCCCTACTCGAGGGAGGGCAGATGAGTCACTGCTGCGCCCCCCGCCCCCTGTGCTGCCTCCCCAAGCTCTGCAGGACCCCAGTGCACTGAGGAAACCGGACCAAGTCTGCTGTGTGGACAGACACATGGGCCAAGAAGCAGGGCCACCCCTACTCACAGGAAGGGGGACACAGGGGACCATGCCCCACACCATCATGTCCAGGGTGGAGGCTGGCAGCCCACACGCCCTCCCCCGCCAGCTTCCCCTGGCCTCTTAAGGTGGCCACGGCCTGCTGGCTAAGTAGTGGGCACTGTGCTGTGGCCCTCAGCCTCCAACAGAGACAACGGCTGGTCTGTGGGGCCAACACCTCGGTCAGAGTCACTCCTGGGCTGTGGCTGGACCCCCAGCAGAGCTGCAAACCAATGAGGCCACCTTCTCCAGGATCTTTCCCCAGGCAGGCAAGGCAGTAAGTGACTAAGTGCTGGCACTGGGTGTTCTCTGGTGGTGCGGCTGTGGAGGGGCGCCACACAGCCTCAGCCATGCCATAGCGAACACGGTGCCAGTGGTCCAGCAGTGGCCAGCGTGGCAACACGAGCCTCACACCACTGCACACCATGCAGCCCCCAACACAGACCCTCATCTGCAGCCCTCCCACACTCCTGACAGCCAAGCAGCCCTGCCCAGCTGCTCCAGCCAGAGGCCTTGGCCAGCCAAGGCACACTCAGCCCCCTCATGTGGCCTGGGGGCCCGAGAGGAAAGGGTCACGGCCCCTGCACAGACTGTGCCTGGGCAGGAGTCTGATGGCAGTGAACAGTTTTCCCCTTGAATCCCACCCACCTCCCCCTGCCAGCCACTCGAAGTGTCCAAAGCCAGCACCACACATCAGGATGACGGGGCCACAGCCGAGGGGCTGCCTGCCACAGAGAGGGGATCTCAGGTTCTCTTCCAGGCCTGTTCCTGCCCCCGCTGGGTGTGAGCTCTCTGAGAGCAGGGTCTCAGCTGTCTCCTCCCTCTGCATCTCCTACCCCAAGCCACGCCAGGCTCACAGAGGCCCTCTGGCACCTGTGGGAAGGGAGGGCCGCCCCTCTTCATGCCCAGGGACCTAAGGCCACAGAGGCACTTGTGGCACACGGCCCCGAGGCATGGGGCCCGGGCTGGTTTTCTGAATTCCAAAGCCCAGTCCTGAAGTACTGGCAGTCCCGCCTCCCGACAGGACCCACAGTGATCCCAGGAAGGAAAGTGGAAAGGTGCGGGAATAGAGCCTGGAGATACACGAGGGGACAGGGCTCAGAAGACAGGAGGAGATATCCCTGTCAGCAAGGAGACAGACGGCAGACAAACAAGACACCCAAAGCACGCCAGACGAAGGTTACTATGACAGAAAAGAGCAAGGTGAGAGAATGAGGAAGCCTCAAAACTTCCAGAACCATGACAGGAGACTGCTCCGAGAAGCCAACTTTTGAGCAGGGGAGGGGAGGGGTAGGGTGGGGGAGGGGGAGGGACGGGGTGGGGAAGGGATGGTCCAGGGGAGGAGAAGAAGCGGGGCGGGCGGAGGGAGGACAGGCAGCAGGGAGGGACAGGCAGGGGGGAGGGAAGGGACCAGCAGGGGGAGGGACGGGCAGGGTGGGTGGGGGGACCGGCGGTGGGGAGGGATGGGCAGGGTGGGTAGGGGGACCGGCGGCGGGGGGGGTAGCCACACACAGGCCAAGGCGTGGGAGTGACCCCAAGGACACAGCAGTGGTCCAGTGAGCGCGGACACGGAGCCCGAGGCAGTCCCTGGTGCAGGGAAGCGGTGAAACAGGACTTCGGCTTTGATGATACCTTGGCTGAGGTGACCTTGAGAATATACCCAGGTACAGATTGCGGGTAATTGAAGCCACATGAAAGATCAGAAAGATCAGATGTCCAGAGAGTGGGCAGAACAGGCAGCCAAGAGGCCAAATGGGAAAGGGGCAGGCTGGGAGGACCCCACGGAGGACCCAGAGAGCAGGGGAGGGCAGTGGGGCCCATGCAAACAGCTGCAAAATGCCATGGGGTGTGCACAGGCCA
Task1_train_30
Assess the clinical impact of this variant on gene ATAD3A (ATPase family AAA domain containing 3A), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
AGAACTGTCTGTGAGCACCAGCGCTCGCCCTGCACTCCACAGAGGGGGTGCCTGGAGGAGAGCCTCGTGCCCTGTGGGTGTGAATTCACGCGCTGGGACGCACGTCCCTGGCACAGGGTCACACCAAAGTGGTGAATGATTGTTCTCACTCTAATAACCGAGAGGCCACACGGGCACCTGACCTGCTCTTTCCCCTCTCCTCCTCCCCAGAGTCACTGGGGGTAGGAACTGTCAATGAGCCATTTTCAGGGGAGGGAGTGGCCTCAGCTTAATCCAGCCAAAGGTCCCCTCGGGAGGAAACAGGCAGAGCTCCTCACCGTGACACCCACGTTCCTGTCACTGCTCTGTGGCAGGACCCTGGGTGACTGACACACCCTCAGTCCCCTCGGGGTCAGAGTGAGAGTGGTTGAGAGCCCGGGGTCGCTTCAGCCCTTGGCTTCCCGAGCTTAGCAGCCAAACCCGTTGACCTGGCACTGTCTTCCCTGAGAGGCAGGTCCCGGTCTCATCTGTGCTCTGTTCACTGGGGCCCCCGAGGTTAGCTACCAAGGCGCTTCCTGAAATCTGACACTGATGCCCGTCAGCCCAGTTCGTGCCTAACCACAGGCCCAAGCAGACCCACCCCAACACCAAAGCGTCGCTGCCTCTGTCTAAATGCAACGAGTGCTCCCCACGGCACTTCCCCCTGCGTCAGTCACCTCCAAAAATTACACCTGAGCTGAGAACAGACGCTGGGCTCTAGTTAGTGACGTGTTTGCTGCAGTTGACTCTGAAGGCTTAAAAAAGTGAGACGGGCTGCGGGAGGAAGAGAGACGGGAACAACGCACCAACCCAGGAGCATCGGGGGTCCCTGCCTACTTTACGTGTCTTTCTGTGTTAGCAGATTTATATGTTTATTTATTTATTTGAGATGGAGTTGCCGTCCGTCGCCCAGGCTGGAGTGCAGTGGTGCAACCTCGGTTCATCGCAACATCCACCTCCTGGGTTCAAGCAGTTCTCCAGCCTTGGCCTCCCAAGTAGCTGAGATCACAGGCGTGCACCACTGTGCCCTGCTCTTTTTTTGTCTTTTTAGTGGAGACAGGGTTTCGCCATGTTGGCCCGGATGGAGATTTTTCTTTTTTAAGTCTCTCTCTGTCTAGCTGGAGTGCAGCGGTGCGATCTGGGTTCACTGCAGCCTCTGTCTCCGGGGTTCAAGCCATCCTCCCACCTCAGCCTCAGAGTAGCTGGGATTACAGGCGTCCGCCACTGCGCCCAGCTAATTTTTGTATATTTAGTAGAGATGGGGTTTCACCACATTGGTCAGGCCGGTCTCTAACTCCTGGACTCAAGTGATCCACCCGTCTCAGCCTCTCAAAGTGCTGGGAGTACAGTAGTGAGCCACCGCGCCCAGCCAAAAGATTTTTATGGTAAAGTTTTATGATGGGAAAACTGTCATCCCAGAAAATTTTGAGACCTGATGCTGAGGCCTCAGCAGCTCAGAGAATACGTACTTCTGTCCCACGACACCCAAACATCGACCTGTGTCAGTTCCCCTCTAGGAACAAAACGTAACTGAGGACGTTGTCAGATGCTTGTCCTCGTCACCCTGAGCTTGTTGGCTGGTATCCTATTCTTATTCATTCCCTTTCTTGCCTGCATGTGCTTGATAGCAGATCAATGACAACAGCCATTGGAAGCTTAGGAAAAGCGAATGTAACGTGAAAAAATAGAGGACACTTTAGCCATCGCCTGACTTTCTGTTGAATTGGGAAAGAGCCTCCTCCCGTCCACGTGGGATGGCCTTCCTGATGTGGCTCTCCAAGACCATCCCTGGGGGGATAAAACCTCACAAATGCATCAGGCCGTGTGCTGGGGATGGTGCATCGTCACGCCAGGTCTGACTAGGAAGGAGGATGGGGAGGCAGGGCTGGGGGCTTTGAGGTCGAGGCGTGGCCGTGGATTCCAGAAAGCCCCTTGGCTGGTGTGCGTGCCTGCCCAGCGGCATCCGTGTATCCTAACACCTGCCCTCCGTGTCCTTGCGTCTGCAGGTTATGCCAAGGACGCCCTGAATCTGGCACAGATGCAGGAGCAGACGCTGCAGTTGGAGCAACAGTCCAAGCTCAAAGTGAGTGGGGCCGGTGTGGGTGGGGAGGCCGGGGCGCACATGGGGTTCGGGCATGGAGATTGGTAGGGCTACTGCCGGTGGGTAGGGCCGGGGGTGTGTACATGGGCAGCAGTGGGGCCCAGGGCCAAGCTTGGGCGCCTCATTTCACAGAAGGAAACAAAGGGAGGTGAGAGACGCTGCCGCAGAGCCGCCCGAGAGGGAGGGCTGGTGTTGGTGAGGGCGTCTGGTCGTCCGGAGGGAGGGCCGGTGTTGGTGAGGGCGTCTGGTCGTCCGGATGGCCTGGATCTTCTCATTTCATTACACTCAGCAGGATTTTTTTGTTTTATTTCGTTTTATTTATTTATTTTGAAACGGAGTCTCTGTTTCCCAGGCTGGAGTTCTGTGGTGCCATCTGGGCTCACTGCAACCTCCGCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGTCGGGGTTTCACCATGTTGGCCAGCCTGGTCTTGAACTCCTGACTTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGTGCCACTGTGCCTGCCTTGTTTCATATTATTATTTTTTTATAGACAGAGTCTTAGTCTGTCTTCCAGGCCGGTGTGCAGTGGCGTGATCTCAGCTCACCGCAACCTCTACCTCCCGGGTTCAACCTCTTTCCTCAGCCTCCGAGCAGCTGGGACTACAAGAGCCCGCCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTTCAGGCTGGTCTCGAACTACTAACCTCAGTTGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTATAAGCGAGAGCCGTCGCACCCGGTCCACTCAGCAGGATTCCTAAAATAAGCATGAGCTCTGCCCTCAGTGCAGTCCAAAAGGGGGTGTCCGGCCTCCCTCCCGGGGGGCCTTCGCGGGCTTCTGCTGGTGCTTCTGTGCCTGTGGGTCTGGATTCCTCCAGGGCCTGATCCTGGGTGCAGATGCGGCTGGAAGCCCTGAGCCTGCTGCACACACTAGTCTGGGCATGGAGTCTCTGCCGTGCCGGAGCCGTGCAGACACAGGAGCGGCTGTCAGGCAGTGCCAGCCCTGAGCAAGTGCCAGCTGGTGAGTGCTGTGCTCTGCAGGAGTATGAGGCCGCCGTGGAGCAGCTCAAGAGCGAGCAGATCCGGGCGCAGGCTGAGGAGAGGAGGAAGACCCTGAGCGAGGAGACCCGGCAGCACCAGGCCGTAAGAGCGCAAGAGGCCGCGAGGGAGGCCGCCCGGCTGCGGGGAGCGGCCTGGGGCAGGACTGGGAGCTGGGTGTGGTCCCGGGGCACTCTGGAGTCAGCCATTAGAGCTGCCCTCGGAACGGCCTTGCACAAACGCCTAAGACCTGTAAGGTCCCTCACTGCTGAGCCGGACGGGAGGTCCCCGCGCCTCCCCACGTTTGTGTGAGGCTGATGGCGCGTCGGAGTCCCCGGCGCTCCGCCCAGTCGGCCCAGACTGCAGCTCCCGGCTGAGATGTGTCTTTGCCGCCCTCTTCTCCCCCAGAGGGCCCAGTATCAAGACAAGCTGGCCCGGCAGCGCTACGAGGACCAACTGAAGCAGCAGGTGAGCTCAGCCTCCCCTGCGAGGCGCCTGCGTCCCTGAGAACGTAGGTGGCTTTGTGGGACCAGTCAGTGGGTCAGAGGCCACGGGGCAAGAACGCTGGGGTTGCTGACGGTGGGTGCTAGAGCAGGGGAAACTACTCGGACAGACACGCACCAGCACACGTGTACAGGCACACATGCAGACGTGTGCACACATGTACATGGAGACACAGGCACCTACCCACACGGACACACACTCCTCGCACACACACTCCCAGCACACACAGACAGGTGCACCCACTTCTGCACACACGGGCACACACACACCCC
AGAACTGTCTGTGAGCACCAGCGCTCGCCCTGCACTCCACAGAGGGGGTGCCTGGAGGAGAGCCTCGTGCCCTGTGGGTGTGAATTCACGCGCTGGGACGCACGTCCCTGGCACAGGGTCACACCAAAGTGGTGAATGATTGTTCTCACTCTAATAACCGAGAGGCCACACGGGCACCTGACCTGCTCTTTCCCCTCTCCTCCTCCCCAGAGTCACTGGGGGTAGGAACTGTCAATGAGCCATTTTCAGGGGAGGGAGTGGCCTCAGCTTAATCCAGCCAAAGGTCCCCTCGGGAGGAAACAGGCAGAGCTCCTCACCGTGACACCCACGTTCCTGTCACTGCTCTGTGGCAGGACCCTGGGTGACTGACACACCCTCAGTCCCCTCGGGGTCAGAGTGAGAGTGGTTGAGAGCCCGGGGTCGCTTCAGCCCTTGGCTTCCCGAGCTTAGCAGCCAAACCCGTTGACCTGGCACTGTCTTCCCTGAGAGGCAGGTCCCGGTCTCATCTGTGCTCTGTTCACTGGGGCCCCCGAGGTTAGCTACCAAGGCGCTTCCTGAAATCTGACACTGATGCCCGTCAGCCCAGTTCGTGCCTAACCACAGGCCCAAGCAGACCCACCCCAACACCAAAGCGTCGCTGCCTCTGTCTAAATGCAACGAGTGCTCCCCACGGCACTTCCCCCTGCGTCAGTCACCTCCAAAAATTACACCTGAGCTGAGAACAGACGCTGGGCTCTAGTTAGTGACGTGTTTGCTGCAGTTGACTCTGAAGGCTTAAAAAAGTGAGACGGGCTGCGGGAGGAAGAGAGACGGGAACAACGCACCAACCCAGGAGCATCGGGGGTCCCTGCCTACTTTACGTGTCTTTCTGTGTTAGCAGATTTATATGTTTATTTATTTATTTGAGATGGAGTTGCCGTCCGTCGCCCAGGCTGGAGTGCAGTGGTGCAACCTCGGTTCATCGCAACATCCACCTCCTGGGTTCAAGCAGTTCTCCAGCCTTGGCCTCCCAAGTAGCTGAGATCACAGGCGTGCACCACTGTGCCCTGCTCTTTTTTTGTCTTTTTAGTGGAGACAGGGTTTCGCCATGTTGGCCCGGATGGAGATTTTTCTTTTTTAAGTCTCTCTCTGTCTAGCTGGAGTGCAGCGGTGCGATCTGGGTTCACTGCAGCCTCTGTCTCCGGGGTTCAAGCCATCCTCCCACCTCAGCCTCAGAGTAGCTGGGATTACAGGCGTCCGCCACTGCGCCCAGCTAATTTTTGTATATTTAGTAGAGATGGGGTTTCACCACATTGGTCAGGCCGGTCTCTAACTCCTGGACTCAAGTGATCCACCCGTCTCAGCCTCTCAAAGTGCTGGGAGTACAGTAGTGAGCCACCGCGCCCAGCCAAAAGATTTTTATGGTAAAGTTTTATGATGGGAAAACTGTCATCCCAGAAAATTTTGAGACCTGATGCTGAGGCCTCAGCAGCTCAGAGAATACGTACTTCTGTCCCACGACACCCAAACATCGACCTGTGTCAGTTCCCCTCTAGGAACAAAACGTAACTGAGGACGTTGTCAGATGCTTGTCCTCGTCACCCTGAGCTTGTTGGCTGGTATCCTATTCTTATTCATTCCCTTTCTTGCCTGCATGTGCTTGATAGCAGATCAATGACAACAGCCATTGGAAGCTTAGGAAAAGCGAATGTAACGTGAAAAAATAGAGGACACTTTAGCCATCGCCTGACTTTCTGTTGAATTGGGAAAGAGCCTCCTCCCGTCCACGTGGGATGGCCTTCCTGATGTGGCTCTCCAAGACCATCCCTGGGGGGATAAAACCTCACAAATGCATCAGGCCGTGTGCTGGGGATGGTGCATCGTCACGCCAGGTCTGACTAGGAAGGAGGATGGGGAGGCAGGGCTGGGGGCTTTGAGGTCGAGGCGTGGCCGTGGATTCCAGAAAGCCCCTTGGCTGGTGTGCGTGCCTGCCCAGCGGCATCCGTGTATCCTAACACCTGCCCTCCGTGTCCTTGCGTCTGCAGGTTATGCCAAGGACGCCCTGAATCGGGCACAGATGCAGGAGCAGACGCTGCAGTTGGAGCAACAGTCCAAGCTCAAAGTGAGTGGGGCCGGTGTGGGTGGGGAGGCCGGGGCGCACATGGGGTTCGGGCATGGAGATTGGTAGGGCTACTGCCGGTGGGTAGGGCCGGGGGTGTGTACATGGGCAGCAGTGGGGCCCAGGGCCAAGCTTGGGCGCCTCATTTCACAGAAGGAAACAAAGGGAGGTGAGAGACGCTGCCGCAGAGCCGCCCGAGAGGGAGGGCTGGTGTTGGTGAGGGCGTCTGGTCGTCCGGAGGGAGGGCCGGTGTTGGTGAGGGCGTCTGGTCGTCCGGATGGCCTGGATCTTCTCATTTCATTACACTCAGCAGGATTTTTTTGTTTTATTTCGTTTTATTTATTTATTTTGAAACGGAGTCTCTGTTTCCCAGGCTGGAGTTCTGTGGTGCCATCTGGGCTCACTGCAACCTCCGCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGTCGGGGTTTCACCATGTTGGCCAGCCTGGTCTTGAACTCCTGACTTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGTGCCACTGTGCCTGCCTTGTTTCATATTATTATTTTTTTATAGACAGAGTCTTAGTCTGTCTTCCAGGCCGGTGTGCAGTGGCGTGATCTCAGCTCACCGCAACCTCTACCTCCCGGGTTCAACCTCTTTCCTCAGCCTCCGAGCAGCTGGGACTACAAGAGCCCGCCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTTCAGGCTGGTCTCGAACTACTAACCTCAGTTGATCCACCCACTTTGGCCTCCCAAAGTGCTGGGATTATAAGCGAGAGCCGTCGCACCCGGTCCACTCAGCAGGATTCCTAAAATAAGCATGAGCTCTGCCCTCAGTGCAGTCCAAAAGGGGGTGTCCGGCCTCCCTCCCGGGGGGCCTTCGCGGGCTTCTGCTGGTGCTTCTGTGCCTGTGGGTCTGGATTCCTCCAGGGCCTGATCCTGGGTGCAGATGCGGCTGGAAGCCCTGAGCCTGCTGCACACACTAGTCTGGGCATGGAGTCTCTGCCGTGCCGGAGCCGTGCAGACACAGGAGCGGCTGTCAGGCAGTGCCAGCCCTGAGCAAGTGCCAGCTGGTGAGTGCTGTGCTCTGCAGGAGTATGAGGCCGCCGTGGAGCAGCTCAAGAGCGAGCAGATCCGGGCGCAGGCTGAGGAGAGGAGGAAGACCCTGAGCGAGGAGACCCGGCAGCACCAGGCCGTAAGAGCGCAAGAGGCCGCGAGGGAGGCCGCCCGGCTGCGGGGAGCGGCCTGGGGCAGGACTGGGAGCTGGGTGTGGTCCCGGGGCACTCTGGAGTCAGCCATTAGAGCTGCCCTCGGAACGGCCTTGCACAAACGCCTAAGACCTGTAAGGTCCCTCACTGCTGAGCCGGACGGGAGGTCCCCGCGCCTCCCCACGTTTGTGTGAGGCTGATGGCGCGTCGGAGTCCCCGGCGCTCCGCCCAGTCGGCCCAGACTGCAGCTCCCGGCTGAGATGTGTCTTTGCCGCCCTCTTCTCCCCCAGAGGGCCCAGTATCAAGACAAGCTGGCCCGGCAGCGCTACGAGGACCAACTGAAGCAGCAGGTGAGCTCAGCCTCCCCTGCGAGGCGCCTGCGTCCCTGAGAACGTAGGTGGCTTTGTGGGACCAGTCAGTGGGTCAGAGGCCACGGGGCAAGAACGCTGGGGTTGCTGACGGTGGGTGCTAGAGCAGGGGAAACTACTCGGACAGACACGCACCAGCACACGTGTACAGGCACACATGCAGACGTGTGCACACATGTACATGGAGACACAGGCACCTACCCACACGGACACACACTCCTCGCACACACACTCCCAGCACACACAGACAGGTGCACCCACTTCTGCACACACGGGCACACACACACCCC
Task1_train_31
This gene mutation involves ATAD3A (ATPase family AAA domain containing 3A) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
Pathogenic; Congenital cerebellar hypoplasia
AAGCTGCTACAGGCCACGGCGTCTGGTGGCCTCCCTGGGGAGCCGCGCCGCTCGCCGCCCCCGAGGTGCCTGCTCTCCACAGGTCACTGGGTAGGTGGTTAAGAAAATAAAAGCCAATAAGGAACCGGAAAATGCCCCTAATCCCAGCAATAGCCGCCTGGTCTCCGGGCGGGGCAGGGTTCCAGCTCCGGGCCGGTCCTGGCTGTGCTTTGGGGCAGCTCCGTTTCTGCGTGTTACCGAGCGTGTGTGTGCGCGTTGGTGGCTGTTCCGTGGCTGTGGCAGGTGACCCGATGGCGCTTCCCCTTCCCCTCCGGCAGGTCAGCCGGCGGCTCCTCAGTCGACCCCAGGACGCGCTGGAGGGTGTTGTGCTCAGTGTAAGTCGGTGTGCCTGGGACCGGGGAGGCGCAGGGAGGGGACCCTGGAGCTGGGCCGGGCTGTGGCCCTTGCTGGCGCTCGTGGTGGCACCCAGGAGCTTTTGGGTCCTGAGATGCGACTGCTTGGACCGTGCTGGGGATAGATAGGCTGCCCCTGAGGTGGGAGGCTTCCCGAGGAGCCGAGTCTGCACCCAGGCATTCCCGCAGCCCCTTCCCCTGAGGCTTCCATGGGTGCACAGTGTCTCCTCCAAACCCCCGTCTTCCCCGGCAGCCCAGCCTGGAAGCACGGGTGCGCGACATCGCCATAGCAACAAGGAACACCAAGAAGAACCGCAGCCTGTACAGGAACATCCTGATGTACGGGCCACCAGGCACCGGGAAGACGCTGTTTGCCAAGGTGAGAGCGCCTGGCTGAACAGGTGGGCCAGGGGCCGCTGGGGTCTCACCTGCCTGCAGGTGTCTGGGGGGCTCAGCTGCCTGGGGAATGGACCCCCCTTAGGCCTTTGCCCACCCTCGTGTAGGCTCAGGGTGCTGGTGTGGGCAGCAGCGCCTCCCATCTTCCAGGCGGGGGACGTCTCCTGTCTGGCAGGCTGTGGCTTCCAGGCAGGGACGCTGGGCAGAGCCTCCACACTCCGGGTGGAGTGTGCAGGCTTTGCAGAGGCGGAGGGAACATCTGCTCTGTCTCCCCTCACTCTTCCTGTCCAGAAACTCGCCCTGCACTCAGGCATGGACTACGCCATCATGACAGGCGGGGACGTGGCCCCCATGGGGCGGGAAGGCGTGACCGCCATGCACAAGCTCTTTGACTGGGCCAATACCAGCCGGCGCGGGTGAGACGTCCCCACAGCATGCACCAGGCCCTTGGCTGCGGCCCAGCAGGCTGCCTTCTGGGAAGGGGGTCCAGGTGTCTCTTGGGGACCCTGTCTTTCTGCAGCTCTGTCCTTGTGGCCACGCAGGAGGCCCAGTGGAGGGTCCCTCGGAGGGAAAGTCCCCTGAGTGTGGACCCTGGTGGACACGAGGCCCCCAGCGTGTGGAGGCTGCCAGTGGGATACTTGGCTCAGGGCAGAAGGGAGGTGGGTGGGTGCAGGGGGAGAGGAGTCTTCACAGCTGCAGGGGAGGCTCCTCCACAGCCGCCCTCCCCCCAACACGCCTGCAGGTGGGCGTGGGCACTGGTTGCCTTTTCTAGAACCATTTGAAAGTTAGCTGAAGACAGCATGGCACACTCCCTTCAATAGGTCCCACAGTGACCCCGCGCAGGGCACAGCCCGGGCACCCTTGTGGCCTCGGCTGTCCTCGTTGGAACCACGATGCTCATGGTTGGCACCCTCCCCTCTGGCCTTTGACCTTTCACTTTAGAAGACCTGTCCCTGTCGTGGACTCTAAGCGGCCACCAGTGCTGCACTGGGCCGGGTGGGGGTGAAGCCTGTGGGGCGGAGTTCGTCGCCCCCGTGTGTGGTTGGTTTCCCACGGCCTTCTGAGGCTGGGCCGTGGTCAGCTGCCCAGAGGCCAGGCTGATCGGCTTCTGTCGAGTCCAGGACTTAGGGCTGCTGATGGGGCAGAGCCTGACCCCGTGGGGATCTGCCTGCTTGGCCTGCTCCTGCCGCGGCCGGACGCTGCTGTGGGCTGCTCCTGGTGTCACTCTCGCCCTGCTTGGCCTCCCTCTCGTTCACAGCCTCCTGCTCTTTGTGGATGAAGCGGACGCCTTCCTTCGGAAGCGAGCCACCGTGAGTGTCACTAAGCCTCTGGCCACAATGGGGTGGTGGGGTGGGCACAGCCGTCTGCCTGGGCCAGGCTGCAGCCCTCTGTTCAGTTTCTTTTTCTCTGTAAGCTTTGTGTGAAAAACAGCTTTTTTTTTTTTTTTTTTTGAGAAGAAATCTCGCTCTATCACCCAGGCTGGAGTGCAATGGCCCCATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCTCCCGCCACCACACCTGGCTAATTTTTTGTGTTTTTAGCAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCTTTTAATTATCATTCTAAGACAGGGTCTCTGTCGCCCAGGCTGGAGTGCAGGGGCGATCACAGCTCACTGTTGCCTCGACCTCTGGAGCTCAAGCAATCCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTGCAGGGGCACAGTGGAATACCTGTCTAATTTTTTTGTAATTTTAGTAGAGATGGAGTTTCCTCACGTTGCCCAGACTGGGCTCAAACTTCTGAGCTAAAGAGATTTGCCTCCCTTGACGTTCTGAAGTGCTGGGATTACAGATGTGAGCCCCCGTGCCCGGTCAGGCTTTCTTTTCTTTTTCTTTTTTTTTTTTTTAAGGCAGAATTTTACTCTGTTGCCCACGCTGGAGTGCAGCGGTGCAATTTCAGCTCACTACAACCTCTGCCTCCCAGGTTTCAGTGATTCTCGTGCCTCAGCCTCCCACGTAGCTGGGACTACAGGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCACCATGTTGGCCAGGATGGTCTCAAACTCCTTACCTCGTGTGATCTGCCCGCCTCAGCCTCCCAAAATCCAGGTTACATTCGTGAGCCACCGCCCCTGGCCCTGGTCAGGCTTTTGAGAGTAGATCCATGAAAGTGTCGCCATGTCCCTGCTCCCTGCAGGAGGGAGGCCTGTGGGACTTTCTGCTGTGGCTGTTTACAAGGCTTTGCTCCTGGTGCCTAAGGCTGGAACCTTCTCTCTGCAGGAGAAGATAAGCGAGGACCTCAGGGCCACACTGAACGCCTTCCTGTACCGCACGGGCCAGCACAGCAACAAGTGAGGGAGCCCCTCGGGTCCTGGGCCCCCGGGCAGGGCTGTGCAGCCGTCGCCCTTGGTTCCCACCGAGGGACCTGAGGGGCCCTGGCTCACAGTGCTGGGCAGCTGCCGTGGCCTCAACATGCCCACCTCGGATGTCCCCTGGGAACGGCCCAGCTCGGGACAGCACGGGGTGTCACTGAGGAACATGCGGGGGCCTCCCGGGCAGAGCTGGGGTCAGTCCTGTCCTCACGGCCCTGTGCGCCGCCGCCCCAGCTTGCAGGTCCCTCTGCCCCTAGGTTTCTGCGGTCCTGTGCCTGCAAGGGAGGTGGTCTCATCGTGTGAGGCTCTGCTGGGTCTCCCTTGGAGGGTGTGTGTGCCCTGGGGTGGGAGATGGAGACAAGTTTGCTCCCACGGGAAGTTGGACACCAGCAGGTCCTGTGTGTCGGGGCGGAACCTGGGACCTTGGTCCCCCGCCCGGATGCTGGCCAAGGGTGCACCCTCCAGGCTTGGGGCCCACCCGACTTTGTGTGGCCTCTGTGGGCTGCCGCCCAGAGGTCCCCCATAGGGTGACCGCCCCATGGCCAGGCTCCCTAGTCCCTCCCAAGTCCCCTAATTTTGAGTTTTCTTGGTCTCCTGGGCCCCTCCAGCCCCAGTCACGTGTCACACGGAGGATCAAGTCCTGCTGGTCGGCCGTGGCTGACTCCTCAGGCACGTTGGGCTCCCAGGTCAGCTGCTGCCGGTGGATGCTCCCTGGAGCCCTGACTCGGGTCCTTCCC
AAGCTGCTACAGGCCACGGCGTCTGGTGGCCTCCCTGGGGAGCCGCGCCGCTCGCCGCCCCCGAGGTGCCTGCTCTCCACAGGTCACTGGGTAGGTGGTTAAGAAAATAAAAGCCAATAAGGAACCGGAAAATGCCCCTAATCCCAGCAATAGCCGCCTGGTCTCCGGGCGGGGCAGGGTTCCAGCTCCGGGCCGGTCCTGGCTGTGCTTTGGGGCAGCTCCGTTTCTGCGTGTTACCGAGCGTGTGTGTGCGCGTTGGTGGCTGTTCCGTGGCTGTGGCAGGTGACCCGATGGCGCTTCCCCTTCCCCTCCGGCAGGTCAGCCGGCGGCTCCTCAGTCGACCCCAGGACGCGCTGGAGGGTGTTGTGCTCAGTGTAAGTCGGTGTGCCTGGGACCGGGGAGGCGCAGGGAGGGGACCCTGGAGCTGGGCCGGGCTGTGGCCCTTGCTGGCGCTCGTGGTGGCACCCAGGAGCTTTTGGGTCCTGAGATGCGACTGCTTGGACCGTGCTGGGGATAGATAGGCTGCCCCTGAGGTGGGAGGCTTCCCGAGGAGCCGAGTCTGCACCCAGGCATTCCCGCAGCCCCTTCCCCTGAGGCTTCCATGGGTGCACAGTGTCTCCTCCAAACCCCCGTCTTCCCCGGCAGCCCAGCCTGGAAGCACGGGTGCGCGACATCGCCATAGCAACAAGGAACACCAAGAAGAACCGCAGCCTGTACAGGAACATCCTGATGTACGGGCCACCAGGCACCGGGAAGACGCTGTTTGCCAAGGTGAGAGCGCCTGGCTGAACAGGTGGGCCAGGGGCCGCTGGGGTCTCACCTGCCTGCAGGTGTCTGGGGGGCTCAGCTGCCTGGGGAATGGACCCCCCTTAGGCCTTTGCCCACCCTCGTGTAGGCTCAGGGTGCTGGTGTGGGCAGCAGCGCCTCCCATCTTCCAGGCGGGGGACGTCTCCTGTCTGGCAGGCTGTGGCTTCCAGGCAGGGACGCTGGGCAGAGCCTCCACACTCCGGGTGGAGTGTGCAGGCTTTGCAGAGGCGGAGGGAACATCTGCTCTGTCTCCCCTCACTCTTCCTGTCCAGAAACTCGCCCTGCACTCAGGCATGGACTACGCCATCATGACAGGCGGGGACGTGGCCCCCATGGGGCGGGAAGGCGTGACCGCCATGCACAAGCTCTTTGACTGGGCCAATACCAGCCGGCGCGGGTGAGACGTCCCCACAGCATGCACCAGGCCCTTGGCTGCGGCCCAGCAGGCTGCCTTCTGGGAAGGGGGTCCAGGTGTCTCTTGGGGACCCTGTCTTTCTGCAGCTCTGTCCTTGTGGCCACGCAGGAGGCCCAGTGGAGGGTCCCTCGGAGGGAAAGTCCCCTGAGTGTGGACCCTGGTGGACACGAGGCCCCCAGCGTGTGGAGGCTGCCAGTGGGATACTTGGCTCAGGGCAGAAGGGAGGTGGGTGGGTGCAGGGGGAGAGGAGTCTTCACAGCTGCAGGGGAGGCTCCTCCACAGCCGCCCTCCCCCCAACACGCCTGCAGGTGGGCGTGGGCACTGGTTGCCTTTTCTAGAACCATTTGAAAGTTAGCTGAAGACAGCATGGCACACTCCCTTCAATAGGTCCCACAGTGACCCCGCGCAGGGCACAGCCCGGGCACCCTTGTGGCCTCGGCTGTCCTCGTTGGAACCACGATGCTCATGGTTGGCACCCTCCCCTCTGGCCTTTGACCTTTCACTTTAGAAGACCTGTCCCTGTCGTGGACTCTAAGCGGCCACCAGTGCTGCACTGGGCCGGGTGGGGGTGAAGCCTGTGGGGCGGAGTTCGTCGCCCCCGTGTGTGGTTGGTTTCCCACGGCCTTCTGAGGCTGGGCCGTGGTCAGCTGCCCAGAGGCCAGGCTGATCGGCTTCTGTCGAGTCCAGGACTTAGGGCTGCTGATGGGGCAGAGCCTGACCCCGTGGGGATCTGCCTGCTTGGCCTGCTCCTGCCGCGGCCGGACGCTGCTGTGGGCTGCTCCTGGTGTCACTCTCGCCCTGCTTGGCCTCCCTCTCGTTCACAGCCGCCTGCTCTTTGTGGATGAAGCGGACGCCTTCCTTCGGAAGCGAGCCACCGTGAGTGTCACTAAGCCTCTGGCCACAATGGGGTGGTGGGGTGGGCACAGCCGTCTGCCTGGGCCAGGCTGCAGCCCTCTGTTCAGTTTCTTTTTCTCTGTAAGCTTTGTGTGAAAAACAGCTTTTTTTTTTTTTTTTTTTGAGAAGAAATCTCGCTCTATCACCCAGGCTGGAGTGCAATGGCCCCATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCTCCCGCCACCACACCTGGCTAATTTTTTGTGTTTTTAGCAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCTCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCTTTTAATTATCATTCTAAGACAGGGTCTCTGTCGCCCAGGCTGGAGTGCAGGGGCGATCACAGCTCACTGTTGCCTCGACCTCTGGAGCTCAAGCAATCCTCCTGCCTCAGCCGCCTGAGTAGCTGGGACTGCAGGGGCACAGTGGAATACCTGTCTAATTTTTTTGTAATTTTAGTAGAGATGGAGTTTCCTCACGTTGCCCAGACTGGGCTCAAACTTCTGAGCTAAAGAGATTTGCCTCCCTTGACGTTCTGAAGTGCTGGGATTACAGATGTGAGCCCCCGTGCCCGGTCAGGCTTTCTTTTCTTTTTCTTTTTTTTTTTTTTAAGGCAGAATTTTACTCTGTTGCCCACGCTGGAGTGCAGCGGTGCAATTTCAGCTCACTACAACCTCTGCCTCCCAGGTTTCAGTGATTCTCGTGCCTCAGCCTCCCACGTAGCTGGGACTACAGGTGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTCTCACCATGTTGGCCAGGATGGTCTCAAACTCCTTACCTCGTGTGATCTGCCCGCCTCAGCCTCCCAAAATCCAGGTTACATTCGTGAGCCACCGCCCCTGGCCCTGGTCAGGCTTTTGAGAGTAGATCCATGAAAGTGTCGCCATGTCCCTGCTCCCTGCAGGAGGGAGGCCTGTGGGACTTTCTGCTGTGGCTGTTTACAAGGCTTTGCTCCTGGTGCCTAAGGCTGGAACCTTCTCTCTGCAGGAGAAGATAAGCGAGGACCTCAGGGCCACACTGAACGCCTTCCTGTACCGCACGGGCCAGCACAGCAACAAGTGAGGGAGCCCCTCGGGTCCTGGGCCCCCGGGCAGGGCTGTGCAGCCGTCGCCCTTGGTTCCCACCGAGGGACCTGAGGGGCCCTGGCTCACAGTGCTGGGCAGCTGCCGTGGCCTCAACATGCCCACCTCGGATGTCCCCTGGGAACGGCCCAGCTCGGGACAGCACGGGGTGTCACTGAGGAACATGCGGGGGCCTCCCGGGCAGAGCTGGGGTCAGTCCTGTCCTCACGGCCCTGTGCGCCGCCGCCCCAGCTTGCAGGTCCCTCTGCCCCTAGGTTTCTGCGGTCCTGTGCCTGCAAGGGAGGTGGTCTCATCGTGTGAGGCTCTGCTGGGTCTCCCTTGGAGGGTGTGTGTGCCCTGGGGTGGGAGATGGAGACAAGTTTGCTCCCACGGGAAGTTGGACACCAGCAGGTCCTGTGTGTCGGGGCGGAACCTGGGACCTTGGTCCCCCGCCCGGATGCTGGCCAAGGGTGCACCCTCCAGGCTTGGGGCCCACCCGACTTTGTGTGGCCTCTGTGGGCTGCCGCCCAGAGGTCCCCCATAGGGTGACCGCCCCATGGCCAGGCTCCCTAGTCCCTCCCAAGTCCCCTAATTTTGAGTTTTCTTGGTCTCCTGGGCCCCTCCAGCCCCAGTCACGTGTCACACGGAGGATCAAGTCCTGCTGGTCGGCCGTGGCTGACTCCTCAGGCACGTTGGGCTCCCAGGTCAGCTGCTGCCGGTGGATGCTCCCTGGAGCCCTGACTCGGGTCCTTCCC
Task1_train_32
This variant affects the gene TMEM240 (transmembrane protein 240) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Spinocerebellar ataxia type 21
GACCCGGGGGCACTGCCTGGCCACGGCTGAGACTCGCAGAGGGTCTGCAGTTCCCACCTGCCTCTCGGAAGCTGCCCTGGGTCGGCGGTCAGTGAGGCTCCGCCTTGGGCTTTCTATTATTAGAAAGTCATTGAGCAACAGCAGTGCTGAGGACGCAGGCAGGGCTGTGGGCACTGCAGGGGCTGCTCCCGGTGTCCACACACGTGCTGGGCTCTGCCGAGGTGCGGGAAGCCTGTGTTTCACGCTCAGGCCATCCTGGAGCCCCTGGTTTGGTCCCTCCCCACCTCGGGGCCCTGGCGTGCATTTGGGGTGGGGGGTTCCCATGGCGGCCTCCCTCAGCTGCCTCTCTCCCCACTAGGCCACGGCGTATGCCTCCGAGGACGGGGTCCTGACCGAGGCCATGATGGACACCCGCGTGCAAGATGCTGTCCAGCAGCACCAGCAGAAGATGTGCTGGCTGAAGGCGGAAGGGCCTGGGCGTGGGGACGAGCCCTCCCCATCCTGAGTCCACAGGGAGATCCACAGCTCACGGAGCCTGGCCGCGGACCCCTCCCACCCCTGCCTTGCCGGCCCCTGCACATTTAGGATATGCTCCTGGGTGGGGACTGGGCTGTGCCCAGGGCCTCTGTCCCCCAGGATGTCTTGTGGTGCGGGTCGGCCGTTCTGCCCCCCAGGGCACCCCCTGTTGTAGGCACTGGCTAGGGAGGGGCAGGCCTCCTTCCTGCCCCTCGAGACACTCTTGGGAGATGCATTTTCCGTCTGGCTCACAGGGGGAGGGTGAGGCTTTGCACCCCAGCCCCTGCCCAGGCCACTGTGAGGGTGGGTGCTGGCTGAGCCCCCGGGGCAGCAGGAGCCAGGCAGGTGATGTCTTTGTTCTCGGCTCCCACAGCAGAGCCAGGTGAGGGGGCGCCTGCCAGGGCCAGACCCAGGTGGGGCAGCCTGAACCCTGCTTCCCCCTGTGGCCGGCATGCCCCGATCTTTCACACACTGGTGACCCTGAGAGAGGAGGGAGGAGGGAACCTGGCGGGGGTGTCTGAGGCCGCACTGTCAGCTGGCCGGTCCAAGCCTGTGGCTGGAGCTGGGGTCTGTTTACCTAATAAAGTCCCACAGGTGCCTCATTGCCCTGTCTGTCTCTTGGCTGGCACGGGGTGGGGTTTTGGGGGCCTCCTAGCGTCCCCCTGGGGTCAAAGGTGACAGAAGAGGCGGAGGCTGGCGCTTTCTGGAGAATTTACTGACCACAGAGGGGTGGGCTTCACATGAGTGCCCGCCACTGCGGGGCCAGGGGCCTGAATGCTGCCTGGGCCCAGCCACCTGCACCCCACCCTGTGGCTGTGCACACGCGGGTGCTCCCCTCGCCCCCCTCCCCTCCGCCCAAGCTGGCTGGGGCCAGACAGACGGTGGACGCAGCGCACGGGAAACAGCGCCTTCAAACAGATGCTGGCCCGGGCCGCGCGCCTCGCCGCCCCTGCCCCCACCTGCCCCCCAGGACCCTCCCTGCCCCCCAGGACCCTCCCTGCCCCCCAGCACCGCTGGGGATGAGTCCGCCCTTGTGTCCTGCCCCCCAACTGCAGGGTCTCCCCTAACCCAACCCCCACCCTAGCCCACACCCCAACCCCCTTTATAAAAAGAAGAGACAGCACCTTCCACTGGACTCTCCCGGCCGGCCACAGCCCCGGACAACCTGGGCCCAGGGCTGCTGTCCAGTCCCGCCGGCCCGGGCGTCCACGAGGTCCCTTTTACATCTGTACAGCAGCCGGTTGGCTCGGTGGCCCCGGTAAGTCCCCGTGCGGCTCACAGGTGCCGCGGGCTGGGGTGGCCATTGTGGTAGAGTTTCTGCTTCACGTGTACCATGTTCCCGGCGGCCTCCTCGAAGGGCCTGTGCGGCCGCCGGCCCAGCTCCCGCAGGCTGCACAGCTTGGGCAGCCAGGTCCACGAGCCATCTGCGGGGGGACAGGGGCGGTCAGGCGGCTGGGGCCGGCCAGGGCGGCAGCACTCCCGGGCGGCGGGCACGAGGCACTCACCGTAGCGCCGTCCGGCTCTCCAGGCGCGCACGGCGCAGTGCAGGACGCCGTCCATCCACACCAGGAACCAGCTGATGCAAAAGCCCAGCAGCAGCCCCAGCATGAGGTCGATCTCCTGCTTGGTCACACTGTCCGTCACAAAGTAGTTCTCGGAGGCGTCCACCACCGACTGGTCCCCGTCGTACGGGATCACGTAGTGGATATGGTGCCTGGGGGCGGCAGGGCGGGCTGGCACCTCTCCCGCCACCCCCGGCCTGGCCTTCCCCCGGGGCGCCTACCCCGTGGTGGGGGTGTGACCGCGTCAGGCCGCCCTGGGGGTTCTCTGAAGCAGCCTCTTGGGCGGGCGGGTCGGGAAGGGGGCACCAGACTCAACGAGGCCCAGGTCACAGGCCAGAGGGAGTGGGAGGTCAGTGGCCATGGGCTGTGGAGGCCGAGCGTGAAGTCCGGGCAGACAGCGGGACCAGCTGCCGGCGAGGGTGTCGGCCCTCACTCAGCACCTCCTCCCTGAGGCCTGGAGCTCACGGGAAGGTGCTGCAGGTGGAAGAGGCCTCCCCCGGAGGGGGCTCAGGACGGCGGTCCCCACGGCCAGGGTCACAGCTCACCCGCCCGCCCCGGGGCCGCGGAGGCCACTTGGAGCAGAGCTGGACACAGGGAGCCCTGCTGGCCCCAGACCAGCCACTCCCATGCACCCTTCCCCCCGCTGCTGTGCCCTTTCCTCCACGGCTGCCACCGCGCCTGCCAGGCCCACTGCCCCTGGTGTTTCTTCTGCTCCTCTATCCCTGGGAGGTGCTGTCGGAGGCCACGGGGGCTCTACCCAGCACCCCATCCTCTCCCCTTCCTGGGGGACGCCCCCTTGCCCTTGCCTGGCACAGACCCGCCCCGCTCCTCTCAGGATGGACGGCGTCCAGGCTCCAGGGCCCTTTCGTCCTCAGTGCCTGCGCGCCTCCATGTCCCTCGGCCTCCCCTCCCCGGGCTCTTGGGGGAACTGCCCAGGCTCAGGCCACAACAGCCTCTGGCCTCTTGCTGCTGGGGCAACACAAGCTCCCCAAGGAGCTCGCCCCAGCAGCTCACCCTGTCCCAGGAAGGTCTCCGGGCCTTGACTCTGCCGATCGGACTGGCATCCCAGACAGTCAACTCTGGGATCCCTAGTCCAACAGGAGGGCCTGGGAGTGGAGCCCGCGGGCCCCACGCGCCTTGCGGTCCACACTCCTGGCTGCCTCCCACATCTCCGCCGAGCTCCAGCTGCCTGTGTCTCCACGTGGGATCCGCAGACACCTTAAACTTGTGCCTAAAAATAGCTCCTCTCTCCCCAGACCTGCTTCTCCCCCACCTTCCCCTCGGTGACGTAGCAGCGCCTCAGCCTGGTTTTCAGCCGAGACCCAGAGACCACCCCACCCTCCACACCCCAACCAGAAGTACTTCCCACACTGAAAGCCCAGCCTGTCCGTCCAACCCAGGGTCTTGCAGCCCTCTCCAGGCCATCCCTGTGCCCAGCGGGGACCACACAGGTGCCTTCCCTCAGTGAGATCTGGGGGGTCCTGGGGCCCGAGCCCAGGAACAGGGAGGAGGTGTCCCCTGCCCCACGCTCCCCTTGAAGCCCTCCTGCTCTTCTGGGGTTCCCGGAGGTCAGTCCCCTCAGCATATCCGGAAAGTGGCCGCTTTCAGTGGCAGGGCTCTCGGTGAGGAGTGACCATGACCGTGGCTGATTCCTGGTGGCCACCGATCACCTGGTGACGAGCCTGTCCACAGCCATCGTCCATCGTCACCAATGGGCAGCTGCTGACCACTGCCCAGAATGTGCAGCTGCCAGAGGCCCTCAGGGGAGGAAGCTGTTCCTGACCCCTTAGAGAGTCCTCACCCACCCCAGGGGCTCAGTAACTTTGGGGGTCAGAGGTCACAGCCTGTGTCCCCCACCATGGCTGGCCTGGGTACCTGTAGCTCCTCTCCCTGCACCTGGCCCTCCTTCCTGGAGGGCTCAGGTCTCCCAAGTGAAAGCAGGAGATAGGCCTGGGCAGAGATATGCTATCTGCACACGTATGTCTGTGACATGTACATACGTGTGTCCTGCCTGCACC
GACCCGGGGGCACTGCCTGGCCACGGCTGAGACTCGCAGAGGGTCTGCAGTTCCCACCTGCCTCTCGGAAGCTGCCCTGGGTCGGCGGTCAGTGAGGCTCCGCCTTGGGCTTTCTATTATTAGAAAGTCATTGAGCAACAGCAGTGCTGAGGACGCAGGCAGGGCTGTGGGCACTGCAGGGGCTGCTCCCGGTGTCCACACACGTGCTGGGCTCTGCCGAGGTGCGGGAAGCCTGTGTTTCACGCTCAGGCCATCCTGGAGCCCCTGGTTTGGTCCCTCCCCACCTCGGGGCCCTGGCGTGCATTTGGGGTGGGGGGTTCCCATGGCGGCCTCCCTCAGCTGCCTCTCTCCCCACTAGGCCACGGCGTATGCCTCCGAGGACGGGGTCCTGACCGAGGCCATGATGGACACCCGCGTGCAAGATGCTGTCCAGCAGCACCAGCAGAAGATGTGCTGGCTGAAGGCGGAAGGGCCTGGGCGTGGGGACGAGCCCTCCCCATCCTGAGTCCACAGGGAGATCCACAGCTCACGGAGCCTGGCCGCGGACCCCTCCCACCCCTGCCTTGCCGGCCCCTGCACATTTAGGATATGCTCCTGGGTGGGGACTGGGCTGTGCCCAGGGCCTCTGTCCCCCAGGATGTCTTGTGGTGCGGGTCGGCCGTTCTGCCCCCCAGGGCACCCCCTGTTGTAGGCACTGGCTAGGGAGGGGCAGGCCTCCTTCCTGCCCCTCGAGACACTCTTGGGAGATGCATTTTCCGTCTGGCTCACAGGGGGAGGGTGAGGCTTTGCACCCCAGCCCCTGCCCAGGCCACTGTGAGGGTGGGTGCTGGCTGAGCCCCCGGGGCAGCAGGAGCCAGGCAGGTGATGTCTTTGTTCTCGGCTCCCACAGCAGAGCCAGGTGAGGGGGCGCCTGCCAGGGCCAGACCCAGGTGGGGCAGCCTGAACCCTGCTTCCCCCTGTGGCCGGCATGCCCCGATCTTTCACACACTGGTGACCCTGAGAGAGGAGGGAGGAGGGAACCTGGCGGGGGTGTCTGAGGCCGCACTGTCAGCTGGCCGGTCCAAGCCTGTGGCTGGAGCTGGGGTCTGTTTACCTAATAAAGTCCCACAGGTGCCTCATTGCCCTGTCTGTCTCTTGGCTGGCACGGGGTGGGGTTTTGGGGGCCTCCTAGCGTCCCCCTGGGGTCAAAGGTGACAGAAGAGGCGGAGGCTGGCGCTTTCTGGAGAATTTACTGACCACAGAGGGGTGGGCTTCACATGAGTGCCCGCCACTGCGGGGCCAGGGGCCTGAATGCTGCCTGGGCCCAGCCACCTGCACCCCACCCTGTGGCTGTGCACACGCGGGTGCTCCCCTCGCCCCCCTCCCCTCCGCCCAAGCTGGCTGGGGCCAGACAGACGGTGGACGCAGCGCACGGGAAACAGCGCCTTCAAACAGATGCTGGCCCGGGCCGCGCGCCTCGCCGCCCCTGCCCCCACCTGCCCCCCAGGACCCTCCCTGCCCCCCAGGACCCTCCCTGCCCCCCAGCACCGCTGGGGATGAGTCCGCCCTTGTGTCCTGCCCCCCAACTGCAGGGTCTCCCCTAACCCAACCCCCACCCTAGCCCACACCCCAACCCCCTTTATAAAAAGAAGAGACAGCACCTTCCACTGGACTCTCCCGGCCGGCCACAGCCCCGGACAACCTGGGCCCAGGGCTGCTGTCCAGTCCCGCCGGCCCGGGCGTCCACGAGGTCCCTTTTACATCTGTACAGCAGCCGGTTGGCTCGGTGGCCCCGGTAAGTCCCCGTGCGGCTCACAGGTGCCGCGGGCTGGGGTGGCCATTGTGGTAGAGTTTCTGCTTCACGTGTACCATGTTCCCGGCGGCCTCCTCGAAGGGCCTGTGCGGCCGCCGGCCCAGCTCCCGCAGGCTGCACAGCTTGGGCAGCCAGGTCCACGAGCCATCTGCGGGGGGACAGGGGCGGTCAGGCGGCTGGGGCCGGCCAGGGCGGCAGCACTCCCGGGCGGCGGGCACGAGGCACTCACCGTAGCGCCGTCCGGCTCTCCAGGCGCACACGGCGCAGTGCAGGACGCCGTCCATCCACACCAGGAACCAGCTGATGCAAAAGCCCAGCAGCAGCCCCAGCATGAGGTCGATCTCCTGCTTGGTCACACTGTCCGTCACAAAGTAGTTCTCGGAGGCGTCCACCACCGACTGGTCCCCGTCGTACGGGATCACGTAGTGGATATGGTGCCTGGGGGCGGCAGGGCGGGCTGGCACCTCTCCCGCCACCCCCGGCCTGGCCTTCCCCCGGGGCGCCTACCCCGTGGTGGGGGTGTGACCGCGTCAGGCCGCCCTGGGGGTTCTCTGAAGCAGCCTCTTGGGCGGGCGGGTCGGGAAGGGGGCACCAGACTCAACGAGGCCCAGGTCACAGGCCAGAGGGAGTGGGAGGTCAGTGGCCATGGGCTGTGGAGGCCGAGCGTGAAGTCCGGGCAGACAGCGGGACCAGCTGCCGGCGAGGGTGTCGGCCCTCACTCAGCACCTCCTCCCTGAGGCCTGGAGCTCACGGGAAGGTGCTGCAGGTGGAAGAGGCCTCCCCCGGAGGGGGCTCAGGACGGCGGTCCCCACGGCCAGGGTCACAGCTCACCCGCCCGCCCCGGGGCCGCGGAGGCCACTTGGAGCAGAGCTGGACACAGGGAGCCCTGCTGGCCCCAGACCAGCCACTCCCATGCACCCTTCCCCCCGCTGCTGTGCCCTTTCCTCCACGGCTGCCACCGCGCCTGCCAGGCCCACTGCCCCTGGTGTTTCTTCTGCTCCTCTATCCCTGGGAGGTGCTGTCGGAGGCCACGGGGGCTCTACCCAGCACCCCATCCTCTCCCCTTCCTGGGGGACGCCCCCTTGCCCTTGCCTGGCACAGACCCGCCCCGCTCCTCTCAGGATGGACGGCGTCCAGGCTCCAGGGCCCTTTCGTCCTCAGTGCCTGCGCGCCTCCATGTCCCTCGGCCTCCCCTCCCCGGGCTCTTGGGGGAACTGCCCAGGCTCAGGCCACAACAGCCTCTGGCCTCTTGCTGCTGGGGCAACACAAGCTCCCCAAGGAGCTCGCCCCAGCAGCTCACCCTGTCCCAGGAAGGTCTCCGGGCCTTGACTCTGCCGATCGGACTGGCATCCCAGACAGTCAACTCTGGGATCCCTAGTCCAACAGGAGGGCCTGGGAGTGGAGCCCGCGGGCCCCACGCGCCTTGCGGTCCACACTCCTGGCTGCCTCCCACATCTCCGCCGAGCTCCAGCTGCCTGTGTCTCCACGTGGGATCCGCAGACACCTTAAACTTGTGCCTAAAAATAGCTCCTCTCTCCCCAGACCTGCTTCTCCCCCACCTTCCCCTCGGTGACGTAGCAGCGCCTCAGCCTGGTTTTCAGCCGAGACCCAGAGACCACCCCACCCTCCACACCCCAACCAGAAGTACTTCCCACACTGAAAGCCCAGCCTGTCCGTCCAACCCAGGGTCTTGCAGCCCTCTCCAGGCCATCCCTGTGCCCAGCGGGGACCACACAGGTGCCTTCCCTCAGTGAGATCTGGGGGGTCCTGGGGCCCGAGCCCAGGAACAGGGAGGAGGTGTCCCCTGCCCCACGCTCCCCTTGAAGCCCTCCTGCTCTTCTGGGGTTCCCGGAGGTCAGTCCCCTCAGCATATCCGGAAAGTGGCCGCTTTCAGTGGCAGGGCTCTCGGTGAGGAGTGACCATGACCGTGGCTGATTCCTGGTGGCCACCGATCACCTGGTGACGAGCCTGTCCACAGCCATCGTCCATCGTCACCAATGGGCAGCTGCTGACCACTGCCCAGAATGTGCAGCTGCCAGAGGCCCTCAGGGGAGGAAGCTGTTCCTGACCCCTTAGAGAGTCCTCACCCACCCCAGGGGCTCAGTAACTTTGGGGGTCAGAGGTCACAGCCTGTGTCCCCCACCATGGCTGGCCTGGGTACCTGTAGCTCCTCTCCCTGCACCTGGCCCTCCTTCCTGGAGGGCTCAGGTCTCCCAAGTGAAAGCAGGAGATAGGCCTGGGCAGAGATATGCTATCTGCACACGTATGTCTGTGACATGTACATACGTGTGTCCTGCCTGCACC
Task1_train_33
A change on Chromosome 1 affects gene TMEM240 (transmembrane protein 240). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; not specified
GGCTTTCTATTATTAGAAAGTCATTGAGCAACAGCAGTGCTGAGGACGCAGGCAGGGCTGTGGGCACTGCAGGGGCTGCTCCCGGTGTCCACACACGTGCTGGGCTCTGCCGAGGTGCGGGAAGCCTGTGTTTCACGCTCAGGCCATCCTGGAGCCCCTGGTTTGGTCCCTCCCCACCTCGGGGCCCTGGCGTGCATTTGGGGTGGGGGGTTCCCATGGCGGCCTCCCTCAGCTGCCTCTCTCCCCACTAGGCCACGGCGTATGCCTCCGAGGACGGGGTCCTGACCGAGGCCATGATGGACACCCGCGTGCAAGATGCTGTCCAGCAGCACCAGCAGAAGATGTGCTGGCTGAAGGCGGAAGGGCCTGGGCGTGGGGACGAGCCCTCCCCATCCTGAGTCCACAGGGAGATCCACAGCTCACGGAGCCTGGCCGCGGACCCCTCCCACCCCTGCCTTGCCGGCCCCTGCACATTTAGGATATGCTCCTGGGTGGGGACTGGGCTGTGCCCAGGGCCTCTGTCCCCCAGGATGTCTTGTGGTGCGGGTCGGCCGTTCTGCCCCCCAGGGCACCCCCTGTTGTAGGCACTGGCTAGGGAGGGGCAGGCCTCCTTCCTGCCCCTCGAGACACTCTTGGGAGATGCATTTTCCGTCTGGCTCACAGGGGGAGGGTGAGGCTTTGCACCCCAGCCCCTGCCCAGGCCACTGTGAGGGTGGGTGCTGGCTGAGCCCCCGGGGCAGCAGGAGCCAGGCAGGTGATGTCTTTGTTCTCGGCTCCCACAGCAGAGCCAGGTGAGGGGGCGCCTGCCAGGGCCAGACCCAGGTGGGGCAGCCTGAACCCTGCTTCCCCCTGTGGCCGGCATGCCCCGATCTTTCACACACTGGTGACCCTGAGAGAGGAGGGAGGAGGGAACCTGGCGGGGGTGTCTGAGGCCGCACTGTCAGCTGGCCGGTCCAAGCCTGTGGCTGGAGCTGGGGTCTGTTTACCTAATAAAGTCCCACAGGTGCCTCATTGCCCTGTCTGTCTCTTGGCTGGCACGGGGTGGGGTTTTGGGGGCCTCCTAGCGTCCCCCTGGGGTCAAAGGTGACAGAAGAGGCGGAGGCTGGCGCTTTCTGGAGAATTTACTGACCACAGAGGGGTGGGCTTCACATGAGTGCCCGCCACTGCGGGGCCAGGGGCCTGAATGCTGCCTGGGCCCAGCCACCTGCACCCCACCCTGTGGCTGTGCACACGCGGGTGCTCCCCTCGCCCCCCTCCCCTCCGCCCAAGCTGGCTGGGGCCAGACAGACGGTGGACGCAGCGCACGGGAAACAGCGCCTTCAAACAGATGCTGGCCCGGGCCGCGCGCCTCGCCGCCCCTGCCCCCACCTGCCCCCCAGGACCCTCCCTGCCCCCCAGGACCCTCCCTGCCCCCCAGCACCGCTGGGGATGAGTCCGCCCTTGTGTCCTGCCCCCCAACTGCAGGGTCTCCCCTAACCCAACCCCCACCCTAGCCCACACCCCAACCCCCTTTATAAAAAGAAGAGACAGCACCTTCCACTGGACTCTCCCGGCCGGCCACAGCCCCGGACAACCTGGGCCCAGGGCTGCTGTCCAGTCCCGCCGGCCCGGGCGTCCACGAGGTCCCTTTTACATCTGTACAGCAGCCGGTTGGCTCGGTGGCCCCGGTAAGTCCCCGTGCGGCTCACAGGTGCCGCGGGCTGGGGTGGCCATTGTGGTAGAGTTTCTGCTTCACGTGTACCATGTTCCCGGCGGCCTCCTCGAAGGGCCTGTGCGGCCGCCGGCCCAGCTCCCGCAGGCTGCACAGCTTGGGCAGCCAGGTCCACGAGCCATCTGCGGGGGGACAGGGGCGGTCAGGCGGCTGGGGCCGGCCAGGGCGGCAGCACTCCCGGGCGGCGGGCACGAGGCACTCACCGTAGCGCCGTCCGGCTCTCCAGGCGCGCACGGCGCAGTGCAGGACGCCGTCCATCCACACCAGGAACCAGCTGATGCAAAAGCCCAGCAGCAGCCCCAGCATGAGGTCGATCTCCTGCTTGGTCACACTGTCCGTCACAAAGTAGTTCTCGGAGGCGTCCACCACCGACTGGTCCCCGTCGTACGGGATCACGTAGTGGATATGGTGCCTGGGGGCGGCAGGGCGGGCTGGCACCTCTCCCGCCACCCCCGGCCTGGCCTTCCCCCGGGGCGCCTACCCCGTGGTGGGGGTGTGACCGCGTCAGGCCGCCCTGGGGGTTCTCTGAAGCAGCCTCTTGGGCGGGCGGGTCGGGAAGGGGGCACCAGACTCAACGAGGCCCAGGTCACAGGCCAGAGGGAGTGGGAGGTCAGTGGCCATGGGCTGTGGAGGCCGAGCGTGAAGTCCGGGCAGACAGCGGGACCAGCTGCCGGCGAGGGTGTCGGCCCTCACTCAGCACCTCCTCCCTGAGGCCTGGAGCTCACGGGAAGGTGCTGCAGGTGGAAGAGGCCTCCCCCGGAGGGGGCTCAGGACGGCGGTCCCCACGGCCAGGGTCACAGCTCACCCGCCCGCCCCGGGGCCGCGGAGGCCACTTGGAGCAGAGCTGGACACAGGGAGCCCTGCTGGCCCCAGACCAGCCACTCCCATGCACCCTTCCCCCCGCTGCTGTGCCCTTTCCTCCACGGCTGCCACCGCGCCTGCCAGGCCCACTGCCCCTGGTGTTTCTTCTGCTCCTCTATCCCTGGGAGGTGCTGTCGGAGGCCACGGGGGCTCTACCCAGCACCCCATCCTCTCCCCTTCCTGGGGGACGCCCCCTTGCCCTTGCCTGGCACAGACCCGCCCCGCTCCTCTCAGGATGGACGGCGTCCAGGCTCCAGGGCCCTTTCGTCCTCAGTGCCTGCGCGCCTCCATGTCCCTCGGCCTCCCCTCCCCGGGCTCTTGGGGGAACTGCCCAGGCTCAGGCCACAACAGCCTCTGGCCTCTTGCTGCTGGGGCAACACAAGCTCCCCAAGGAGCTCGCCCCAGCAGCTCACCCTGTCCCAGGAAGGTCTCCGGGCCTTGACTCTGCCGATCGGACTGGCATCCCAGACAGTCAACTCTGGGATCCCTAGTCCAACAGGAGGGCCTGGGAGTGGAGCCCGCGGGCCCCACGCGCCTTGCGGTCCACACTCCTGGCTGCCTCCCACATCTCCGCCGAGCTCCAGCTGCCTGTGTCTCCACGTGGGATCCGCAGACACCTTAAACTTGTGCCTAAAAATAGCTCCTCTCTCCCCAGACCTGCTTCTCCCCCACCTTCCCCTCGGTGACGTAGCAGCGCCTCAGCCTGGTTTTCAGCCGAGACCCAGAGACCACCCCACCCTCCACACCCCAACCAGAAGTACTTCCCACACTGAAAGCCCAGCCTGTCCGTCCAACCCAGGGTCTTGCAGCCCTCTCCAGGCCATCCCTGTGCCCAGCGGGGACCACACAGGTGCCTTCCCTCAGTGAGATCTGGGGGGTCCTGGGGCCCGAGCCCAGGAACAGGGAGGAGGTGTCCCCTGCCCCACGCTCCCCTTGAAGCCCTCCTGCTCTTCTGGGGTTCCCGGAGGTCAGTCCCCTCAGCATATCCGGAAAGTGGCCGCTTTCAGTGGCAGGGCTCTCGGTGAGGAGTGACCATGACCGTGGCTGATTCCTGGTGGCCACCGATCACCTGGTGACGAGCCTGTCCACAGCCATCGTCCATCGTCACCAATGGGCAGCTGCTGACCACTGCCCAGAATGTGCAGCTGCCAGAGGCCCTCAGGGGAGGAAGCTGTTCCTGACCCCTTAGAGAGTCCTCACCCACCCCAGGGGCTCAGTAACTTTGGGGGTCAGAGGTCACAGCCTGTGTCCCCCACCATGGCTGGCCTGGGTACCTGTAGCTCCTCTCCCTGCACCTGGCCCTCCTTCCTGGAGGGCTCAGGTCTCCCAAGTGAAAGCAGGAGATAGGCCTGGGCAGAGATATGCTATCTGCACACGTATGTCTGTGACATGTACATACGTGTGTCCTGCCTGCACCACACACACCAGGTGTGTCCACCTGAGGCCCAGTGTACATCACGTATACACACCAGCCACATGCACGGGACATGGCGTGATACTGTGGACATGGGCCCCGGGAGCGCC
GGCTTTCTATTATTAGAAAGTCATTGAGCAACAGCAGTGCTGAGGACGCAGGCAGGGCTGTGGGCACTGCAGGGGCTGCTCCCGGTGTCCACACACGTGCTGGGCTCTGCCGAGGTGCGGGAAGCCTGTGTTTCACGCTCAGGCCATCCTGGAGCCCCTGGTTTGGTCCCTCCCCACCTCGGGGCCCTGGCGTGCATTTGGGGTGGGGGGTTCCCATGGCGGCCTCCCTCAGCTGCCTCTCTCCCCACTAGGCCACGGCGTATGCCTCCGAGGACGGGGTCCTGACCGAGGCCATGATGGACACCCGCGTGCAAGATGCTGTCCAGCAGCACCAGCAGAAGATGTGCTGGCTGAAGGCGGAAGGGCCTGGGCGTGGGGACGAGCCCTCCCCATCCTGAGTCCACAGGGAGATCCACAGCTCACGGAGCCTGGCCGCGGACCCCTCCCACCCCTGCCTTGCCGGCCCCTGCACATTTAGGATATGCTCCTGGGTGGGGACTGGGCTGTGCCCAGGGCCTCTGTCCCCCAGGATGTCTTGTGGTGCGGGTCGGCCGTTCTGCCCCCCAGGGCACCCCCTGTTGTAGGCACTGGCTAGGGAGGGGCAGGCCTCCTTCCTGCCCCTCGAGACACTCTTGGGAGATGCATTTTCCGTCTGGCTCACAGGGGGAGGGTGAGGCTTTGCACCCCAGCCCCTGCCCAGGCCACTGTGAGGGTGGGTGCTGGCTGAGCCCCCGGGGCAGCAGGAGCCAGGCAGGTGATGTCTTTGTTCTCGGCTCCCACAGCAGAGCCAGGTGAGGGGGCGCCTGCCAGGGCCAGACCCAGGTGGGGCAGCCTGAACCCTGCTTCCCCCTGTGGCCGGCATGCCCCGATCTTTCACACACTGGTGACCCTGAGAGAGGAGGGAGGAGGGAACCTGGCGGGGGTGTCTGAGGCCGCACTGTCAGCTGGCCGGTCCAAGCCTGTGGCTGGAGCTGGGGTCTGTTTACCTAATAAAGTCCCACAGGTGCCTCATTGCCCTGTCTGTCTCTTGGCTGGCACGGGGTGGGGTTTTGGGGGCCTCCTAGCGTCCCCCTGGGGTCAAAGGTGACAGAAGAGGCGGAGGCTGGCGCTTTCTGGAGAATTTACTGACCACAGAGGGGTGGGCTTCACATGAGTGCCCGCCACTGCGGGGCCAGGGGCCTGAATGCTGCCTGGGCCCAGCCACCTGCACCCCACCCTGTGGCTGTGCACACGCGGGTGCTCCCCTCGCCCCCCTCCCCTCCGCCCAAGCTGGCTGGGGCCAGACAGACGGTGGACGCAGCGCACGGGAAACAGCGCCTTCAAACAGATGCTGGCCCGGGCCGCGCGCCTCGCCGCCCCTGCCCCCACCTGCCCCCCAGGACCCTCCCTGCCCCCCAGGACCCTCCCTGCCCCCCAGCACCGCTGGGGATGAGTCCGCCCTTGTGTCCTGCCCCCCAACTGCAGGGTCTCCCCTAACCCAACCCCCACCCTAGCCCACACCCCAACCCCCTTTATAAAAAGAAGAGACAGCACCTTCCACTGGACTCTCCCGGCCGGCCACAGCCCCGGACAACCTGGGCCCAGGGCTGCTGTCCAGTCCCGCCGGCCCGGGCGTCCACGAGGTCCCTTTTACATCTGTACAGCAGCCGGTTGGCTCGGTGGCCCCGGTAAGTCCCCGTGCGGCTCACAGGTGCCGCGGGCTGGGGTGGCCATTGTGGTAGAGTTTCTGCTTCACGTGTACCATGTTCCCGGCGGCCTCCTCGAAGGGCCTGTGCGGCCGCCGGCCCAGCTCCCGCAGGCTGCACAGCTTGGGCAGCCAGGTCCACGAGCCATCTGCGGGGGGACAGGGGCGGTCAGGCGGCTGGGGCCGGCCAGGGCGGCAGCACTCCCGGGCGGCGGGCACGAGGCACTCACCGTAGCGCCGTCCGGCTCTCCAGGCGCGCACGGCGCAGTGCAGGACGCCGTCCATCCACACCAGGAACCAGCTGATGCAAAAGCCCAGCAGCAGCCCCAGCATGAGGTCGATCTCCTGCTTGGTCACACTGTCCATCACAAAGTAGTTCTCGGAGGCGTCCACCACCGACTGGTCCCCGTCGTACGGGATCACGTAGTGGATATGGTGCCTGGGGGCGGCAGGGCGGGCTGGCACCTCTCCCGCCACCCCCGGCCTGGCCTTCCCCCGGGGCGCCTACCCCGTGGTGGGGGTGTGACCGCGTCAGGCCGCCCTGGGGGTTCTCTGAAGCAGCCTCTTGGGCGGGCGGGTCGGGAAGGGGGCACCAGACTCAACGAGGCCCAGGTCACAGGCCAGAGGGAGTGGGAGGTCAGTGGCCATGGGCTGTGGAGGCCGAGCGTGAAGTCCGGGCAGACAGCGGGACCAGCTGCCGGCGAGGGTGTCGGCCCTCACTCAGCACCTCCTCCCTGAGGCCTGGAGCTCACGGGAAGGTGCTGCAGGTGGAAGAGGCCTCCCCCGGAGGGGGCTCAGGACGGCGGTCCCCACGGCCAGGGTCACAGCTCACCCGCCCGCCCCGGGGCCGCGGAGGCCACTTGGAGCAGAGCTGGACACAGGGAGCCCTGCTGGCCCCAGACCAGCCACTCCCATGCACCCTTCCCCCCGCTGCTGTGCCCTTTCCTCCACGGCTGCCACCGCGCCTGCCAGGCCCACTGCCCCTGGTGTTTCTTCTGCTCCTCTATCCCTGGGAGGTGCTGTCGGAGGCCACGGGGGCTCTACCCAGCACCCCATCCTCTCCCCTTCCTGGGGGACGCCCCCTTGCCCTTGCCTGGCACAGACCCGCCCCGCTCCTCTCAGGATGGACGGCGTCCAGGCTCCAGGGCCCTTTCGTCCTCAGTGCCTGCGCGCCTCCATGTCCCTCGGCCTCCCCTCCCCGGGCTCTTGGGGGAACTGCCCAGGCTCAGGCCACAACAGCCTCTGGCCTCTTGCTGCTGGGGCAACACAAGCTCCCCAAGGAGCTCGCCCCAGCAGCTCACCCTGTCCCAGGAAGGTCTCCGGGCCTTGACTCTGCCGATCGGACTGGCATCCCAGACAGTCAACTCTGGGATCCCTAGTCCAACAGGAGGGCCTGGGAGTGGAGCCCGCGGGCCCCACGCGCCTTGCGGTCCACACTCCTGGCTGCCTCCCACATCTCCGCCGAGCTCCAGCTGCCTGTGTCTCCACGTGGGATCCGCAGACACCTTAAACTTGTGCCTAAAAATAGCTCCTCTCTCCCCAGACCTGCTTCTCCCCCACCTTCCCCTCGGTGACGTAGCAGCGCCTCAGCCTGGTTTTCAGCCGAGACCCAGAGACCACCCCACCCTCCACACCCCAACCAGAAGTACTTCCCACACTGAAAGCCCAGCCTGTCCGTCCAACCCAGGGTCTTGCAGCCCTCTCCAGGCCATCCCTGTGCCCAGCGGGGACCACACAGGTGCCTTCCCTCAGTGAGATCTGGGGGGTCCTGGGGCCCGAGCCCAGGAACAGGGAGGAGGTGTCCCCTGCCCCACGCTCCCCTTGAAGCCCTCCTGCTCTTCTGGGGTTCCCGGAGGTCAGTCCCCTCAGCATATCCGGAAAGTGGCCGCTTTCAGTGGCAGGGCTCTCGGTGAGGAGTGACCATGACCGTGGCTGATTCCTGGTGGCCACCGATCACCTGGTGACGAGCCTGTCCACAGCCATCGTCCATCGTCACCAATGGGCAGCTGCTGACCACTGCCCAGAATGTGCAGCTGCCAGAGGCCCTCAGGGGAGGAAGCTGTTCCTGACCCCTTAGAGAGTCCTCACCCACCCCAGGGGCTCAGTAACTTTGGGGGTCAGAGGTCACAGCCTGTGTCCCCCACCATGGCTGGCCTGGGTACCTGTAGCTCCTCTCCCTGCACCTGGCCCTCCTTCCTGGAGGGCTCAGGTCTCCCAAGTGAAAGCAGGAGATAGGCCTGGGCAGAGATATGCTATCTGCACACGTATGTCTGTGACATGTACATACGTGTGTCCTGCCTGCACCACACACACCAGGTGTGTCCACCTGAGGCCCAGTGTACATCACGTATACACACCAGCCACATGCACGGGACATGGCGTGATACTGTGGACATGGGCCCCGGGAGCGCC
Task1_train_34
Given this variant in gene TMEM240 (transmembrane protein 240) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Spinocerebellar ataxia type 21
GGCTTTCTATTATTAGAAAGTCATTGAGCAACAGCAGTGCTGAGGACGCAGGCAGGGCTGTGGGCACTGCAGGGGCTGCTCCCGGTGTCCACACACGTGCTGGGCTCTGCCGAGGTGCGGGAAGCCTGTGTTTCACGCTCAGGCCATCCTGGAGCCCCTGGTTTGGTCCCTCCCCACCTCGGGGCCCTGGCGTGCATTTGGGGTGGGGGGTTCCCATGGCGGCCTCCCTCAGCTGCCTCTCTCCCCACTAGGCCACGGCGTATGCCTCCGAGGACGGGGTCCTGACCGAGGCCATGATGGACACCCGCGTGCAAGATGCTGTCCAGCAGCACCAGCAGAAGATGTGCTGGCTGAAGGCGGAAGGGCCTGGGCGTGGGGACGAGCCCTCCCCATCCTGAGTCCACAGGGAGATCCACAGCTCACGGAGCCTGGCCGCGGACCCCTCCCACCCCTGCCTTGCCGGCCCCTGCACATTTAGGATATGCTCCTGGGTGGGGACTGGGCTGTGCCCAGGGCCTCTGTCCCCCAGGATGTCTTGTGGTGCGGGTCGGCCGTTCTGCCCCCCAGGGCACCCCCTGTTGTAGGCACTGGCTAGGGAGGGGCAGGCCTCCTTCCTGCCCCTCGAGACACTCTTGGGAGATGCATTTTCCGTCTGGCTCACAGGGGGAGGGTGAGGCTTTGCACCCCAGCCCCTGCCCAGGCCACTGTGAGGGTGGGTGCTGGCTGAGCCCCCGGGGCAGCAGGAGCCAGGCAGGTGATGTCTTTGTTCTCGGCTCCCACAGCAGAGCCAGGTGAGGGGGCGCCTGCCAGGGCCAGACCCAGGTGGGGCAGCCTGAACCCTGCTTCCCCCTGTGGCCGGCATGCCCCGATCTTTCACACACTGGTGACCCTGAGAGAGGAGGGAGGAGGGAACCTGGCGGGGGTGTCTGAGGCCGCACTGTCAGCTGGCCGGTCCAAGCCTGTGGCTGGAGCTGGGGTCTGTTTACCTAATAAAGTCCCACAGGTGCCTCATTGCCCTGTCTGTCTCTTGGCTGGCACGGGGTGGGGTTTTGGGGGCCTCCTAGCGTCCCCCTGGGGTCAAAGGTGACAGAAGAGGCGGAGGCTGGCGCTTTCTGGAGAATTTACTGACCACAGAGGGGTGGGCTTCACATGAGTGCCCGCCACTGCGGGGCCAGGGGCCTGAATGCTGCCTGGGCCCAGCCACCTGCACCCCACCCTGTGGCTGTGCACACGCGGGTGCTCCCCTCGCCCCCCTCCCCTCCGCCCAAGCTGGCTGGGGCCAGACAGACGGTGGACGCAGCGCACGGGAAACAGCGCCTTCAAACAGATGCTGGCCCGGGCCGCGCGCCTCGCCGCCCCTGCCCCCACCTGCCCCCCAGGACCCTCCCTGCCCCCCAGGACCCTCCCTGCCCCCCAGCACCGCTGGGGATGAGTCCGCCCTTGTGTCCTGCCCCCCAACTGCAGGGTCTCCCCTAACCCAACCCCCACCCTAGCCCACACCCCAACCCCCTTTATAAAAAGAAGAGACAGCACCTTCCACTGGACTCTCCCGGCCGGCCACAGCCCCGGACAACCTGGGCCCAGGGCTGCTGTCCAGTCCCGCCGGCCCGGGCGTCCACGAGGTCCCTTTTACATCTGTACAGCAGCCGGTTGGCTCGGTGGCCCCGGTAAGTCCCCGTGCGGCTCACAGGTGCCGCGGGCTGGGGTGGCCATTGTGGTAGAGTTTCTGCTTCACGTGTACCATGTTCCCGGCGGCCTCCTCGAAGGGCCTGTGCGGCCGCCGGCCCAGCTCCCGCAGGCTGCACAGCTTGGGCAGCCAGGTCCACGAGCCATCTGCGGGGGGACAGGGGCGGTCAGGCGGCTGGGGCCGGCCAGGGCGGCAGCACTCCCGGGCGGCGGGCACGAGGCACTCACCGTAGCGCCGTCCGGCTCTCCAGGCGCGCACGGCGCAGTGCAGGACGCCGTCCATCCACACCAGGAACCAGCTGATGCAAAAGCCCAGCAGCAGCCCCAGCATGAGGTCGATCTCCTGCTTGGTCACACTGTCCGTCACAAAGTAGTTCTCGGAGGCGTCCACCACCGACTGGTCCCCGTCGTACGGGATCACGTAGTGGATATGGTGCCTGGGGGCGGCAGGGCGGGCTGGCACCTCTCCCGCCACCCCCGGCCTGGCCTTCCCCCGGGGCGCCTACCCCGTGGTGGGGGTGTGACCGCGTCAGGCCGCCCTGGGGGTTCTCTGAAGCAGCCTCTTGGGCGGGCGGGTCGGGAAGGGGGCACCAGACTCAACGAGGCCCAGGTCACAGGCCAGAGGGAGTGGGAGGTCAGTGGCCATGGGCTGTGGAGGCCGAGCGTGAAGTCCGGGCAGACAGCGGGACCAGCTGCCGGCGAGGGTGTCGGCCCTCACTCAGCACCTCCTCCCTGAGGCCTGGAGCTCACGGGAAGGTGCTGCAGGTGGAAGAGGCCTCCCCCGGAGGGGGCTCAGGACGGCGGTCCCCACGGCCAGGGTCACAGCTCACCCGCCCGCCCCGGGGCCGCGGAGGCCACTTGGAGCAGAGCTGGACACAGGGAGCCCTGCTGGCCCCAGACCAGCCACTCCCATGCACCCTTCCCCCCGCTGCTGTGCCCTTTCCTCCACGGCTGCCACCGCGCCTGCCAGGCCCACTGCCCCTGGTGTTTCTTCTGCTCCTCTATCCCTGGGAGGTGCTGTCGGAGGCCACGGGGGCTCTACCCAGCACCCCATCCTCTCCCCTTCCTGGGGGACGCCCCCTTGCCCTTGCCTGGCACAGACCCGCCCCGCTCCTCTCAGGATGGACGGCGTCCAGGCTCCAGGGCCCTTTCGTCCTCAGTGCCTGCGCGCCTCCATGTCCCTCGGCCTCCCCTCCCCGGGCTCTTGGGGGAACTGCCCAGGCTCAGGCCACAACAGCCTCTGGCCTCTTGCTGCTGGGGCAACACAAGCTCCCCAAGGAGCTCGCCCCAGCAGCTCACCCTGTCCCAGGAAGGTCTCCGGGCCTTGACTCTGCCGATCGGACTGGCATCCCAGACAGTCAACTCTGGGATCCCTAGTCCAACAGGAGGGCCTGGGAGTGGAGCCCGCGGGCCCCACGCGCCTTGCGGTCCACACTCCTGGCTGCCTCCCACATCTCCGCCGAGCTCCAGCTGCCTGTGTCTCCACGTGGGATCCGCAGACACCTTAAACTTGTGCCTAAAAATAGCTCCTCTCTCCCCAGACCTGCTTCTCCCCCACCTTCCCCTCGGTGACGTAGCAGCGCCTCAGCCTGGTTTTCAGCCGAGACCCAGAGACCACCCCACCCTCCACACCCCAACCAGAAGTACTTCCCACACTGAAAGCCCAGCCTGTCCGTCCAACCCAGGGTCTTGCAGCCCTCTCCAGGCCATCCCTGTGCCCAGCGGGGACCACACAGGTGCCTTCCCTCAGTGAGATCTGGGGGGTCCTGGGGCCCGAGCCCAGGAACAGGGAGGAGGTGTCCCCTGCCCCACGCTCCCCTTGAAGCCCTCCTGCTCTTCTGGGGTTCCCGGAGGTCAGTCCCCTCAGCATATCCGGAAAGTGGCCGCTTTCAGTGGCAGGGCTCTCGGTGAGGAGTGACCATGACCGTGGCTGATTCCTGGTGGCCACCGATCACCTGGTGACGAGCCTGTCCACAGCCATCGTCCATCGTCACCAATGGGCAGCTGCTGACCACTGCCCAGAATGTGCAGCTGCCAGAGGCCCTCAGGGGAGGAAGCTGTTCCTGACCCCTTAGAGAGTCCTCACCCACCCCAGGGGCTCAGTAACTTTGGGGGTCAGAGGTCACAGCCTGTGTCCCCCACCATGGCTGGCCTGGGTACCTGTAGCTCCTCTCCCTGCACCTGGCCCTCCTTCCTGGAGGGCTCAGGTCTCCCAAGTGAAAGCAGGAGATAGGCCTGGGCAGAGATATGCTATCTGCACACGTATGTCTGTGACATGTACATACGTGTGTCCTGCCTGCACCACACACACCAGGTGTGTCCACCTGAGGCCCAGTGTACATCACGTATACACACCAGCCACATGCACGGGACATGGCGTGATACTGTGGACATGGGCCCCGGGAGCGCC
GGCTTTCTATTATTAGAAAGTCATTGAGCAACAGCAGTGCTGAGGACGCAGGCAGGGCTGTGGGCACTGCAGGGGCTGCTCCCGGTGTCCACACACGTGCTGGGCTCTGCCGAGGTGCGGGAAGCCTGTGTTTCACGCTCAGGCCATCCTGGAGCCCCTGGTTTGGTCCCTCCCCACCTCGGGGCCCTGGCGTGCATTTGGGGTGGGGGGTTCCCATGGCGGCCTCCCTCAGCTGCCTCTCTCCCCACTAGGCCACGGCGTATGCCTCCGAGGACGGGGTCCTGACCGAGGCCATGATGGACACCCGCGTGCAAGATGCTGTCCAGCAGCACCAGCAGAAGATGTGCTGGCTGAAGGCGGAAGGGCCTGGGCGTGGGGACGAGCCCTCCCCATCCTGAGTCCACAGGGAGATCCACAGCTCACGGAGCCTGGCCGCGGACCCCTCCCACCCCTGCCTTGCCGGCCCCTGCACATTTAGGATATGCTCCTGGGTGGGGACTGGGCTGTGCCCAGGGCCTCTGTCCCCCAGGATGTCTTGTGGTGCGGGTCGGCCGTTCTGCCCCCCAGGGCACCCCCTGTTGTAGGCACTGGCTAGGGAGGGGCAGGCCTCCTTCCTGCCCCTCGAGACACTCTTGGGAGATGCATTTTCCGTCTGGCTCACAGGGGGAGGGTGAGGCTTTGCACCCCAGCCCCTGCCCAGGCCACTGTGAGGGTGGGTGCTGGCTGAGCCCCCGGGGCAGCAGGAGCCAGGCAGGTGATGTCTTTGTTCTCGGCTCCCACAGCAGAGCCAGGTGAGGGGGCGCCTGCCAGGGCCAGACCCAGGTGGGGCAGCCTGAACCCTGCTTCCCCCTGTGGCCGGCATGCCCCGATCTTTCACACACTGGTGACCCTGAGAGAGGAGGGAGGAGGGAACCTGGCGGGGGTGTCTGAGGCCGCACTGTCAGCTGGCCGGTCCAAGCCTGTGGCTGGAGCTGGGGTCTGTTTACCTAATAAAGTCCCACAGGTGCCTCATTGCCCTGTCTGTCTCTTGGCTGGCACGGGGTGGGGTTTTGGGGGCCTCCTAGCGTCCCCCTGGGGTCAAAGGTGACAGAAGAGGCGGAGGCTGGCGCTTTCTGGAGAATTTACTGACCACAGAGGGGTGGGCTTCACATGAGTGCCCGCCACTGCGGGGCCAGGGGCCTGAATGCTGCCTGGGCCCAGCCACCTGCACCCCACCCTGTGGCTGTGCACACGCGGGTGCTCCCCTCGCCCCCCTCCCCTCCGCCCAAGCTGGCTGGGGCCAGACAGACGGTGGACGCAGCGCACGGGAAACAGCGCCTTCAAACAGATGCTGGCCCGGGCCGCGCGCCTCGCCGCCCCTGCCCCCACCTGCCCCCCAGGACCCTCCCTGCCCCCCAGGACCCTCCCTGCCCCCCAGCACCGCTGGGGATGAGTCCGCCCTTGTGTCCTGCCCCCCAACTGCAGGGTCTCCCCTAACCCAACCCCCACCCTAGCCCACACCCCAACCCCCTTTATAAAAAGAAGAGACAGCACCTTCCACTGGACTCTCCCGGCCGGCCACAGCCCCGGACAACCTGGGCCCAGGGCTGCTGTCCAGTCCCGCCGGCCCGGGCGTCCACGAGGTCCCTTTTACATCTGTACAGCAGCCGGTTGGCTCGGTGGCCCCGGTAAGTCCCCGTGCGGCTCACAGGTGCCGCGGGCTGGGGTGGCCATTGTGGTAGAGTTTCTGCTTCACGTGTACCATGTTCCCGGCGGCCTCCTCGAAGGGCCTGTGCGGCCGCCGGCCCAGCTCCCGCAGGCTGCACAGCTTGGGCAGCCAGGTCCACGAGCCATCTGCGGGGGGACAGGGGCGGTCAGGCGGCTGGGGCCGGCCAGGGCGGCAGCACTCCCGGGCGGCGGGCACGAGGCACTCACCGTAGCGCCGTCCGGCTCTCCAGGCGCGCACGGCGCAGTGCAGGACGCCGTCCATCCACACCAGGAACCAGCTGATGCAAAAGCCCAGCAGCAGCCCCAGCATGAGGTCGATCTCCTGCTTGGTCACACTGTCCATCACAAAGTAGTTCTCGGAGGCGTCCACCACCGACTGGTCCCCGTCGTACGGGATCACGTAGTGGATATGGTGCCTGGGGGCGGCAGGGCGGGCTGGCACCTCTCCCGCCACCCCCGGCCTGGCCTTCCCCCGGGGCGCCTACCCCGTGGTGGGGGTGTGACCGCGTCAGGCCGCCCTGGGGGTTCTCTGAAGCAGCCTCTTGGGCGGGCGGGTCGGGAAGGGGGCACCAGACTCAACGAGGCCCAGGTCACAGGCCAGAGGGAGTGGGAGGTCAGTGGCCATGGGCTGTGGAGGCCGAGCGTGAAGTCCGGGCAGACAGCGGGACCAGCTGCCGGCGAGGGTGTCGGCCCTCACTCAGCACCTCCTCCCTGAGGCCTGGAGCTCACGGGAAGGTGCTGCAGGTGGAAGAGGCCTCCCCCGGAGGGGGCTCAGGACGGCGGTCCCCACGGCCAGGGTCACAGCTCACCCGCCCGCCCCGGGGCCGCGGAGGCCACTTGGAGCAGAGCTGGACACAGGGAGCCCTGCTGGCCCCAGACCAGCCACTCCCATGCACCCTTCCCCCCGCTGCTGTGCCCTTTCCTCCACGGCTGCCACCGCGCCTGCCAGGCCCACTGCCCCTGGTGTTTCTTCTGCTCCTCTATCCCTGGGAGGTGCTGTCGGAGGCCACGGGGGCTCTACCCAGCACCCCATCCTCTCCCCTTCCTGGGGGACGCCCCCTTGCCCTTGCCTGGCACAGACCCGCCCCGCTCCTCTCAGGATGGACGGCGTCCAGGCTCCAGGGCCCTTTCGTCCTCAGTGCCTGCGCGCCTCCATGTCCCTCGGCCTCCCCTCCCCGGGCTCTTGGGGGAACTGCCCAGGCTCAGGCCACAACAGCCTCTGGCCTCTTGCTGCTGGGGCAACACAAGCTCCCCAAGGAGCTCGCCCCAGCAGCTCACCCTGTCCCAGGAAGGTCTCCGGGCCTTGACTCTGCCGATCGGACTGGCATCCCAGACAGTCAACTCTGGGATCCCTAGTCCAACAGGAGGGCCTGGGAGTGGAGCCCGCGGGCCCCACGCGCCTTGCGGTCCACACTCCTGGCTGCCTCCCACATCTCCGCCGAGCTCCAGCTGCCTGTGTCTCCACGTGGGATCCGCAGACACCTTAAACTTGTGCCTAAAAATAGCTCCTCTCTCCCCAGACCTGCTTCTCCCCCACCTTCCCCTCGGTGACGTAGCAGCGCCTCAGCCTGGTTTTCAGCCGAGACCCAGAGACCACCCCACCCTCCACACCCCAACCAGAAGTACTTCCCACACTGAAAGCCCAGCCTGTCCGTCCAACCCAGGGTCTTGCAGCCCTCTCCAGGCCATCCCTGTGCCCAGCGGGGACCACACAGGTGCCTTCCCTCAGTGAGATCTGGGGGGTCCTGGGGCCCGAGCCCAGGAACAGGGAGGAGGTGTCCCCTGCCCCACGCTCCCCTTGAAGCCCTCCTGCTCTTCTGGGGTTCCCGGAGGTCAGTCCCCTCAGCATATCCGGAAAGTGGCCGCTTTCAGTGGCAGGGCTCTCGGTGAGGAGTGACCATGACCGTGGCTGATTCCTGGTGGCCACCGATCACCTGGTGACGAGCCTGTCCACAGCCATCGTCCATCGTCACCAATGGGCAGCTGCTGACCACTGCCCAGAATGTGCAGCTGCCAGAGGCCCTCAGGGGAGGAAGCTGTTCCTGACCCCTTAGAGAGTCCTCACCCACCCCAGGGGCTCAGTAACTTTGGGGGTCAGAGGTCACAGCCTGTGTCCCCCACCATGGCTGGCCTGGGTACCTGTAGCTCCTCTCCCTGCACCTGGCCCTCCTTCCTGGAGGGCTCAGGTCTCCCAAGTGAAAGCAGGAGATAGGCCTGGGCAGAGATATGCTATCTGCACACGTATGTCTGTGACATGTACATACGTGTGTCCTGCCTGCACCACACACACCAGGTGTGTCCACCTGAGGCCCAGTGTACATCACGTATACACACCAGCCACATGCACGGGACATGGCGTGATACTGTGGACATGGGCCCCGGGAGCGCC
Task1_train_35
A change on Chromosome 1 affects gene GNB1 (G protein subunit beta 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Inborn genetic diseases
TAAAAATTTCACATTGAATGATAATTAAAATACAATATAGGCTGGGAGTGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAAAAAAAAAAAAAGACAATATGAAACAAATGTGTGTGATGTGGCTAAAGCCATGCTTAGAGGGAAACTTAAAACTTTAAGTGATTCTATTTGAAAAGGAAGCAAACCAGTGGCCTACAGATCTACTTCAGGTAGCTGGAAAATTAAGAAGGCAACTCCAAAGTAAGCAGAAGGCAGAAAAGAACAGAGAACAGAAATCAACAACAGCAGCAGCATTATCTTTCAAAGGACAAGGTTAAACTTGTAATCTGGCCAAAATTAACTTATTTAACAGACTGCTTAATGGGTGTCAACTGTAGTACTAGTGACTCCATGAACTGATTTCTTTGGCTGCATGTGAAGTGGGCGGAGTGTTATCAAAAAGTACTGGGGCATAAAATGTCTGAGAACAAATAATACAGCCAGAGAGGTAAAATATTAGAATAGTACATCCTCTTTCAGCAAATGTATGCCTTTCATGATGAATTAGTGTCACAAGTAAATAAAATCTTGGTGAAATAATAGACTACCTAGCACTTACGGCCACAGGGCTCTATTATGCCTCATTTGCAGAGACAGGGTCTCGCTTTCGCCCAGCCTGGAGTGCAGTGGTGCAATCATAGCTCCCTGCAGCCTCAACCACCCAGGCTTGAGCCATCCTCCTGAGGAGCTGGGACCATAGTTGTGTGCCACTGTGCGTGGCTGTTTTTCATTTTTTGTAGAGAAGGGGTCTAGCTTTGTTGCCCCAGCTGGTCTCGAACCCCTGGCTCCAAGCTATCCTCCTACCTTGGCCTCCCAGAGTGTTGCAGTTACAGGCATGAGCCACCATGTCCAGCGCAAATCCACAGGTTTCTTACTGGTAAAGGCATATCAGGCTTGTTTTTAGTTTCATTTTCAGAAAACTTCTGGCCATTACTGTGACTTTTATTTGAACCAGTCTCATTTAATGATTCATAAGGCCGGGCGCAGCGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACAATGTCAGGAGTTCAAGACCAGCCTGGCCAATACAGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGACACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAATCAGAGGTTGCAGTGAGCCAAGAATGCGCTGCTGCACTCCAGCCTGGGTGACATAGTGAGACTCTGTCTTTAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTTAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATGGCGTGAACACCCAGGAGGCGGAGCGTGCAGTGAGCCGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGCCTCAAAAAAAATAATTAATTAATTAATTAAAAAATGATTGATAAAAAGTGAGTATCCAAAGCATATAATGTACCCCAGGTAAACAGCTTGTGTCACTTGAAGCTTATGAACAAGGACAGGTACCTGTGTGTCCTGCCAGCTCACGACTCACGCGCACGTTCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGA
TAAAAATTTCACATTGAATGATAATTAAAATACAATATAGGCTGGGAGTGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAAAAAAAAAAAAAGACAATATGAAACAAATGTGTGTGATGTGGCTAAAGCCATGCTTAGAGGGAAACTTAAAACTTTAAGTGATTCTATTTGAAAAGGAAGCAAACCAGTGGCCTACAGATCTACTTCAGGTAGCTGGAAAATTAAGAAGGCAACTCCAAAGTAAGCAGAAGGCAGAAAAGAACAGAGAACAGAAATCAACAACAGCAGCAGCATTATCTTTCAAAGGACAAGGTTAAACTTGTAATCTGGCCAAAATTAACTTATTTAACAGACTGCTTAATGGGTGTCAACTGTAGTACTAGTGACTCCATGAACTGATTTCTTTGGCTGCATGTGAAGTGGGCGGAGTGTTATCAAAAAGTACTGGGGCATAAAATGTCTGAGAACAAATAATACAGCCAGAGAGGTAAAATATTAGAATAGTACATCCTCTTTCAGCAAATGTATGCCTTTCATGATGAATTAGTGTCACAAGTAAATAAAATCTTGGTGAAATAATAGACTACCTAGCACTTACGGCCACAGGGCTCTATTATGCCTCATTTGCAGAGACAGGGTCTCGCTTTCGCCCAGCCTGGAGTGCAGTGGTGCAATCATAGCTCCCTGCAGCCTCAACCACCCAGGCTTGAGCCATCCTCCTGAGGAGCTGGGACCATAGTTGTGTGCCACTGTGCGTGGCTGTTTTTCATTTTTTGTAGAGAAGGGGTCTAGCTTTGTTGCCCCAGCTGGTCTCGAACCCCTGGCTCCAAGCTATCCTCCTACCTTGGCCTCCCAGAGTGTTGCAGTTACAGGCATGAGCCACCATGTCCAGCGCAAATCCACAGGTTTCTTACTGGTAAAGGCATATCAGGCTTGTTTTTAGTTTCATTTTCAGAAAACTTCTGGCCATTACTGTGACTTTTATTTGAACCAGTCTCATTTAATGATTCATAAGGCCGGGCGCAGCGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACAATGTCAGGAGTTCAAGACCAGCCTGGCCAATACAGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGACACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAATCAGAGGTTGCAGTGAGCCAAGAATGCGCTGCTGCACTCCAGCCTGGGTGACATAGTGAGACTCTGTCTTTAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTTAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATGGCGTGAACACCCAGGAGGCGGAGCGTGCAGTGAGCCGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGCCTCAAAAAAAATAATTAATTAATTAATTAAAAAATGATTGATAAAAAGTGAGTATCCAAAGCATATAATGTACCCCAGGTAAACAGCTTGTGTCACTTGAAGCTTATGAACAAGGACAGGTACCTGTGTGTCCTGCCAGCTCACGACTCACGCGCACGTTCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTACCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGA
Task1_train_36
Here is a genetic alteration in GNB1 (G protein subunit beta 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; not provided
AAAAATTTCACATTGAATGATAATTAAAATACAATATAGGCTGGGAGTGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAAAAAAAAAAAAAGACAATATGAAACAAATGTGTGTGATGTGGCTAAAGCCATGCTTAGAGGGAAACTTAAAACTTTAAGTGATTCTATTTGAAAAGGAAGCAAACCAGTGGCCTACAGATCTACTTCAGGTAGCTGGAAAATTAAGAAGGCAACTCCAAAGTAAGCAGAAGGCAGAAAAGAACAGAGAACAGAAATCAACAACAGCAGCAGCATTATCTTTCAAAGGACAAGGTTAAACTTGTAATCTGGCCAAAATTAACTTATTTAACAGACTGCTTAATGGGTGTCAACTGTAGTACTAGTGACTCCATGAACTGATTTCTTTGGCTGCATGTGAAGTGGGCGGAGTGTTATCAAAAAGTACTGGGGCATAAAATGTCTGAGAACAAATAATACAGCCAGAGAGGTAAAATATTAGAATAGTACATCCTCTTTCAGCAAATGTATGCCTTTCATGATGAATTAGTGTCACAAGTAAATAAAATCTTGGTGAAATAATAGACTACCTAGCACTTACGGCCACAGGGCTCTATTATGCCTCATTTGCAGAGACAGGGTCTCGCTTTCGCCCAGCCTGGAGTGCAGTGGTGCAATCATAGCTCCCTGCAGCCTCAACCACCCAGGCTTGAGCCATCCTCCTGAGGAGCTGGGACCATAGTTGTGTGCCACTGTGCGTGGCTGTTTTTCATTTTTTGTAGAGAAGGGGTCTAGCTTTGTTGCCCCAGCTGGTCTCGAACCCCTGGCTCCAAGCTATCCTCCTACCTTGGCCTCCCAGAGTGTTGCAGTTACAGGCATGAGCCACCATGTCCAGCGCAAATCCACAGGTTTCTTACTGGTAAAGGCATATCAGGCTTGTTTTTAGTTTCATTTTCAGAAAACTTCTGGCCATTACTGTGACTTTTATTTGAACCAGTCTCATTTAATGATTCATAAGGCCGGGCGCAGCGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACAATGTCAGGAGTTCAAGACCAGCCTGGCCAATACAGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGACACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAATCAGAGGTTGCAGTGAGCCAAGAATGCGCTGCTGCACTCCAGCCTGGGTGACATAGTGAGACTCTGTCTTTAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTTAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATGGCGTGAACACCCAGGAGGCGGAGCGTGCAGTGAGCCGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGCCTCAAAAAAAATAATTAATTAATTAATTAAAAAATGATTGATAAAAAGTGAGTATCCAAAGCATATAATGTACCCCAGGTAAACAGCTTGTGTCACTTGAAGCTTATGAACAAGGACAGGTACCTGTGTGTCCTGCCAGCTCACGACTCACGCGCACGTTCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAG
AAAAATTTCACATTGAATGATAATTAAAATACAATATAGGCTGGGAGTGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAAAAAAAAAAAAAGACAATATGAAACAAATGTGTGTGATGTGGCTAAAGCCATGCTTAGAGGGAAACTTAAAACTTTAAGTGATTCTATTTGAAAAGGAAGCAAACCAGTGGCCTACAGATCTACTTCAGGTAGCTGGAAAATTAAGAAGGCAACTCCAAAGTAAGCAGAAGGCAGAAAAGAACAGAGAACAGAAATCAACAACAGCAGCAGCATTATCTTTCAAAGGACAAGGTTAAACTTGTAATCTGGCCAAAATTAACTTATTTAACAGACTGCTTAATGGGTGTCAACTGTAGTACTAGTGACTCCATGAACTGATTTCTTTGGCTGCATGTGAAGTGGGCGGAGTGTTATCAAAAAGTACTGGGGCATAAAATGTCTGAGAACAAATAATACAGCCAGAGAGGTAAAATATTAGAATAGTACATCCTCTTTCAGCAAATGTATGCCTTTCATGATGAATTAGTGTCACAAGTAAATAAAATCTTGGTGAAATAATAGACTACCTAGCACTTACGGCCACAGGGCTCTATTATGCCTCATTTGCAGAGACAGGGTCTCGCTTTCGCCCAGCCTGGAGTGCAGTGGTGCAATCATAGCTCCCTGCAGCCTCAACCACCCAGGCTTGAGCCATCCTCCTGAGGAGCTGGGACCATAGTTGTGTGCCACTGTGCGTGGCTGTTTTTCATTTTTTGTAGAGAAGGGGTCTAGCTTTGTTGCCCCAGCTGGTCTCGAACCCCTGGCTCCAAGCTATCCTCCTACCTTGGCCTCCCAGAGTGTTGCAGTTACAGGCATGAGCCACCATGTCCAGCGCAAATCCACAGGTTTCTTACTGGTAAAGGCATATCAGGCTTGTTTTTAGTTTCATTTTCAGAAAACTTCTGGCCATTACTGTGACTTTTATTTGAACCAGTCTCATTTAATGATTCATAAGGCCGGGCGCAGCGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACAATGTCAGGAGTTCAAGACCAGCCTGGCCAATACAGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGACACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAATCAGAGGTTGCAGTGAGCCAAGAATGCGCTGCTGCACTCCAGCCTGGGTGACATAGTGAGACTCTGTCTTTAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTTAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATGGCGTGAACACCCAGGAGGCGGAGCGTGCAGTGAGCCGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGCCTCAAAAAAAATAATTAATTAATTAATTAAAAAATGATTGATAAAAAGTGAGTATCCAAAGCATATAATGTACCCCAGGTAAACAGCTTGTGTCACTTGAAGCTTATGAACAAGGACAGGTACCTGTGTGTCCTGCCAGCTCACGACTCACGCGCACGTTCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATACAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAG
Task1_train_37
This sequence change occurs on Chromosome 1, altering GNB1 (G protein subunit beta 1). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; not provided
TTTCACATTGAATGATAATTAAAATACAATATAGGCTGGGAGTGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAAAAAAAAAAAAAGACAATATGAAACAAATGTGTGTGATGTGGCTAAAGCCATGCTTAGAGGGAAACTTAAAACTTTAAGTGATTCTATTTGAAAAGGAAGCAAACCAGTGGCCTACAGATCTACTTCAGGTAGCTGGAAAATTAAGAAGGCAACTCCAAAGTAAGCAGAAGGCAGAAAAGAACAGAGAACAGAAATCAACAACAGCAGCAGCATTATCTTTCAAAGGACAAGGTTAAACTTGTAATCTGGCCAAAATTAACTTATTTAACAGACTGCTTAATGGGTGTCAACTGTAGTACTAGTGACTCCATGAACTGATTTCTTTGGCTGCATGTGAAGTGGGCGGAGTGTTATCAAAAAGTACTGGGGCATAAAATGTCTGAGAACAAATAATACAGCCAGAGAGGTAAAATATTAGAATAGTACATCCTCTTTCAGCAAATGTATGCCTTTCATGATGAATTAGTGTCACAAGTAAATAAAATCTTGGTGAAATAATAGACTACCTAGCACTTACGGCCACAGGGCTCTATTATGCCTCATTTGCAGAGACAGGGTCTCGCTTTCGCCCAGCCTGGAGTGCAGTGGTGCAATCATAGCTCCCTGCAGCCTCAACCACCCAGGCTTGAGCCATCCTCCTGAGGAGCTGGGACCATAGTTGTGTGCCACTGTGCGTGGCTGTTTTTCATTTTTTGTAGAGAAGGGGTCTAGCTTTGTTGCCCCAGCTGGTCTCGAACCCCTGGCTCCAAGCTATCCTCCTACCTTGGCCTCCCAGAGTGTTGCAGTTACAGGCATGAGCCACCATGTCCAGCGCAAATCCACAGGTTTCTTACTGGTAAAGGCATATCAGGCTTGTTTTTAGTTTCATTTTCAGAAAACTTCTGGCCATTACTGTGACTTTTATTTGAACCAGTCTCATTTAATGATTCATAAGGCCGGGCGCAGCGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACAATGTCAGGAGTTCAAGACCAGCCTGGCCAATACAGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGACACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAATCAGAGGTTGCAGTGAGCCAAGAATGCGCTGCTGCACTCCAGCCTGGGTGACATAGTGAGACTCTGTCTTTAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTTAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATGGCGTGAACACCCAGGAGGCGGAGCGTGCAGTGAGCCGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGCCTCAAAAAAAATAATTAATTAATTAATTAAAAAATGATTGATAAAAAGTGAGTATCCAAAGCATATAATGTACCCCAGGTAAACAGCTTGTGTCACTTGAAGCTTATGAACAAGGACAGGTACCTGTGTGTCCTGCCAGCTCACGACTCACGCGCACGTTCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACA
TTTCACATTGAATGATAATTAAAATACAATATAGGCTGGGAGTGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAAAAAAAAAAAAAGACAATATGAAACAAATGTGTGTGATGTGGCTAAAGCCATGCTTAGAGGGAAACTTAAAACTTTAAGTGATTCTATTTGAAAAGGAAGCAAACCAGTGGCCTACAGATCTACTTCAGGTAGCTGGAAAATTAAGAAGGCAACTCCAAAGTAAGCAGAAGGCAGAAAAGAACAGAGAACAGAAATCAACAACAGCAGCAGCATTATCTTTCAAAGGACAAGGTTAAACTTGTAATCTGGCCAAAATTAACTTATTTAACAGACTGCTTAATGGGTGTCAACTGTAGTACTAGTGACTCCATGAACTGATTTCTTTGGCTGCATGTGAAGTGGGCGGAGTGTTATCAAAAAGTACTGGGGCATAAAATGTCTGAGAACAAATAATACAGCCAGAGAGGTAAAATATTAGAATAGTACATCCTCTTTCAGCAAATGTATGCCTTTCATGATGAATTAGTGTCACAAGTAAATAAAATCTTGGTGAAATAATAGACTACCTAGCACTTACGGCCACAGGGCTCTATTATGCCTCATTTGCAGAGACAGGGTCTCGCTTTCGCCCAGCCTGGAGTGCAGTGGTGCAATCATAGCTCCCTGCAGCCTCAACCACCCAGGCTTGAGCCATCCTCCTGAGGAGCTGGGACCATAGTTGTGTGCCACTGTGCGTGGCTGTTTTTCATTTTTTGTAGAGAAGGGGTCTAGCTTTGTTGCCCCAGCTGGTCTCGAACCCCTGGCTCCAAGCTATCCTCCTACCTTGGCCTCCCAGAGTGTTGCAGTTACAGGCATGAGCCACCATGTCCAGCGCAAATCCACAGGTTTCTTACTGGTAAAGGCATATCAGGCTTGTTTTTAGTTTCATTTTCAGAAAACTTCTGGCCATTACTGTGACTTTTATTTGAACCAGTCTCATTTAATGATTCATAAGGCCGGGCGCAGCGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACAATGTCAGGAGTTCAAGACCAGCCTGGCCAATACAGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGACACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAATCAGAGGTTGCAGTGAGCCAAGAATGCGCTGCTGCACTCCAGCCTGGGTGACATAGTGAGACTCTGTCTTTAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTTAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATGGCGTGAACACCCAGGAGGCGGAGCGTGCAGTGAGCCGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGCCTCAAAAAAAATAATTAATTAATTAATTAAAAAATGATTGATAAAAAGTGAGTATCCAAAGCATATAATGTACCCCAGGTAAACAGCTTGTGTCACTTGAAGCTTATGAACAAGGACAGGTACCTGTGTGTCCTGCCAGCTCACGACTCACGCGCACGTTCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGACACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACA
Task1_train_38
This alteration in GNB1 (G protein subunit beta 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Intellectual disability, autosomal dominant 42
ATTGAATGATAATTAAAATACAATATAGGCTGGGAGTGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAAAAAAAAAAAAAGACAATATGAAACAAATGTGTGTGATGTGGCTAAAGCCATGCTTAGAGGGAAACTTAAAACTTTAAGTGATTCTATTTGAAAAGGAAGCAAACCAGTGGCCTACAGATCTACTTCAGGTAGCTGGAAAATTAAGAAGGCAACTCCAAAGTAAGCAGAAGGCAGAAAAGAACAGAGAACAGAAATCAACAACAGCAGCAGCATTATCTTTCAAAGGACAAGGTTAAACTTGTAATCTGGCCAAAATTAACTTATTTAACAGACTGCTTAATGGGTGTCAACTGTAGTACTAGTGACTCCATGAACTGATTTCTTTGGCTGCATGTGAAGTGGGCGGAGTGTTATCAAAAAGTACTGGGGCATAAAATGTCTGAGAACAAATAATACAGCCAGAGAGGTAAAATATTAGAATAGTACATCCTCTTTCAGCAAATGTATGCCTTTCATGATGAATTAGTGTCACAAGTAAATAAAATCTTGGTGAAATAATAGACTACCTAGCACTTACGGCCACAGGGCTCTATTATGCCTCATTTGCAGAGACAGGGTCTCGCTTTCGCCCAGCCTGGAGTGCAGTGGTGCAATCATAGCTCCCTGCAGCCTCAACCACCCAGGCTTGAGCCATCCTCCTGAGGAGCTGGGACCATAGTTGTGTGCCACTGTGCGTGGCTGTTTTTCATTTTTTGTAGAGAAGGGGTCTAGCTTTGTTGCCCCAGCTGGTCTCGAACCCCTGGCTCCAAGCTATCCTCCTACCTTGGCCTCCCAGAGTGTTGCAGTTACAGGCATGAGCCACCATGTCCAGCGCAAATCCACAGGTTTCTTACTGGTAAAGGCATATCAGGCTTGTTTTTAGTTTCATTTTCAGAAAACTTCTGGCCATTACTGTGACTTTTATTTGAACCAGTCTCATTTAATGATTCATAAGGCCGGGCGCAGCGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACAATGTCAGGAGTTCAAGACCAGCCTGGCCAATACAGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGACACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAATCAGAGGTTGCAGTGAGCCAAGAATGCGCTGCTGCACTCCAGCCTGGGTGACATAGTGAGACTCTGTCTTTAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTTAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATGGCGTGAACACCCAGGAGGCGGAGCGTGCAGTGAGCCGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGCCTCAAAAAAAATAATTAATTAATTAATTAAAAAATGATTGATAAAAAGTGAGTATCCAAAGCATATAATGTACCCCAGGTAAACAGCTTGTGTCACTTGAAGCTTATGAACAAGGACAGGTACCTGTGTGTCCTGCCAGCTCACGACTCACGCGCACGTTCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAA
ATTGAATGATAATTAAAATACAATATAGGCTGGGAGTGGTGGCTCAAGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAAAAAAAAAAAAAGACAATATGAAACAAATGTGTGTGATGTGGCTAAAGCCATGCTTAGAGGGAAACTTAAAACTTTAAGTGATTCTATTTGAAAAGGAAGCAAACCAGTGGCCTACAGATCTACTTCAGGTAGCTGGAAAATTAAGAAGGCAACTCCAAAGTAAGCAGAAGGCAGAAAAGAACAGAGAACAGAAATCAACAACAGCAGCAGCATTATCTTTCAAAGGACAAGGTTAAACTTGTAATCTGGCCAAAATTAACTTATTTAACAGACTGCTTAATGGGTGTCAACTGTAGTACTAGTGACTCCATGAACTGATTTCTTTGGCTGCATGTGAAGTGGGCGGAGTGTTATCAAAAAGTACTGGGGCATAAAATGTCTGAGAACAAATAATACAGCCAGAGAGGTAAAATATTAGAATAGTACATCCTCTTTCAGCAAATGTATGCCTTTCATGATGAATTAGTGTCACAAGTAAATAAAATCTTGGTGAAATAATAGACTACCTAGCACTTACGGCCACAGGGCTCTATTATGCCTCATTTGCAGAGACAGGGTCTCGCTTTCGCCCAGCCTGGAGTGCAGTGGTGCAATCATAGCTCCCTGCAGCCTCAACCACCCAGGCTTGAGCCATCCTCCTGAGGAGCTGGGACCATAGTTGTGTGCCACTGTGCGTGGCTGTTTTTCATTTTTTGTAGAGAAGGGGTCTAGCTTTGTTGCCCCAGCTGGTCTCGAACCCCTGGCTCCAAGCTATCCTCCTACCTTGGCCTCCCAGAGTGTTGCAGTTACAGGCATGAGCCACCATGTCCAGCGCAAATCCACAGGTTTCTTACTGGTAAAGGCATATCAGGCTTGTTTTTAGTTTCATTTTCAGAAAACTTCTGGCCATTACTGTGACTTTTATTTGAACCAGTCTCATTTAATGATTCATAAGGCCGGGCGCAGCGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACAATGTCAGGAGTTCAAGACCAGCCTGGCCAATACAGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGACACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAATCAGAGGTTGCAGTGAGCCAAGAATGCGCTGCTGCACTCCAGCCTGGGTGACATAGTGAGACTCTGTCTTTAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTTAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATGGCGTGAACACCCAGGAGGCGGAGCGTGCAGTGAGCCGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGCCTCAAAAAAAATAATTAATTAATTAATTAAAAAATGATTGATAAAAAGTGAGTATCCAAAGCATATAATGTACCCCAGGTAAACAGCTTGTGTCACTTGAAGCTTATGAACAAGGACAGGTACCTGTGTGTCCTGCCAGCTCACGACTCACGCGCACGTTCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGTAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAA
Task1_train_39
The gene GNB1 (G protein subunit beta 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Intellectual disability, autosomal dominant 42
ATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAAAAAAAAAAAAAGACAATATGAAACAAATGTGTGTGATGTGGCTAAAGCCATGCTTAGAGGGAAACTTAAAACTTTAAGTGATTCTATTTGAAAAGGAAGCAAACCAGTGGCCTACAGATCTACTTCAGGTAGCTGGAAAATTAAGAAGGCAACTCCAAAGTAAGCAGAAGGCAGAAAAGAACAGAGAACAGAAATCAACAACAGCAGCAGCATTATCTTTCAAAGGACAAGGTTAAACTTGTAATCTGGCCAAAATTAACTTATTTAACAGACTGCTTAATGGGTGTCAACTGTAGTACTAGTGACTCCATGAACTGATTTCTTTGGCTGCATGTGAAGTGGGCGGAGTGTTATCAAAAAGTACTGGGGCATAAAATGTCTGAGAACAAATAATACAGCCAGAGAGGTAAAATATTAGAATAGTACATCCTCTTTCAGCAAATGTATGCCTTTCATGATGAATTAGTGTCACAAGTAAATAAAATCTTGGTGAAATAATAGACTACCTAGCACTTACGGCCACAGGGCTCTATTATGCCTCATTTGCAGAGACAGGGTCTCGCTTTCGCCCAGCCTGGAGTGCAGTGGTGCAATCATAGCTCCCTGCAGCCTCAACCACCCAGGCTTGAGCCATCCTCCTGAGGAGCTGGGACCATAGTTGTGTGCCACTGTGCGTGGCTGTTTTTCATTTTTTGTAGAGAAGGGGTCTAGCTTTGTTGCCCCAGCTGGTCTCGAACCCCTGGCTCCAAGCTATCCTCCTACCTTGGCCTCCCAGAGTGTTGCAGTTACAGGCATGAGCCACCATGTCCAGCGCAAATCCACAGGTTTCTTACTGGTAAAGGCATATCAGGCTTGTTTTTAGTTTCATTTTCAGAAAACTTCTGGCCATTACTGTGACTTTTATTTGAACCAGTCTCATTTAATGATTCATAAGGCCGGGCGCAGCGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACAATGTCAGGAGTTCAAGACCAGCCTGGCCAATACAGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGACACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAATCAGAGGTTGCAGTGAGCCAAGAATGCGCTGCTGCACTCCAGCCTGGGTGACATAGTGAGACTCTGTCTTTAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTTAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATGGCGTGAACACCCAGGAGGCGGAGCGTGCAGTGAGCCGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGCCTCAAAAAAAATAATTAATTAATTAATTAAAAAATGATTGATAAAAAGTGAGTATCCAAAGCATATAATGTACCCCAGGTAAACAGCTTGTGTCACTTGAAGCTTATGAACAAGGACAGGTACCTGTGTGTCCTGCCAGCTCACGACTCACGCGCACGTTCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAA
ATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGCAGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTGGCCAGGCGTGGTGGTGCACGCCTGTAATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGGGGTTGAGGTTTCAGTGAGCTGAGATTGCACCACTGTACTACAGCCTGGGTGACAGAGCAGGACTCCATCTTAAAAAAAAAAAAAAAAGACAATATGAAACAAATGTGTGTGATGTGGCTAAAGCCATGCTTAGAGGGAAACTTAAAACTTTAAGTGATTCTATTTGAAAAGGAAGCAAACCAGTGGCCTACAGATCTACTTCAGGTAGCTGGAAAATTAAGAAGGCAACTCCAAAGTAAGCAGAAGGCAGAAAAGAACAGAGAACAGAAATCAACAACAGCAGCAGCATTATCTTTCAAAGGACAAGGTTAAACTTGTAATCTGGCCAAAATTAACTTATTTAACAGACTGCTTAATGGGTGTCAACTGTAGTACTAGTGACTCCATGAACTGATTTCTTTGGCTGCATGTGAAGTGGGCGGAGTGTTATCAAAAAGTACTGGGGCATAAAATGTCTGAGAACAAATAATACAGCCAGAGAGGTAAAATATTAGAATAGTACATCCTCTTTCAGCAAATGTATGCCTTTCATGATGAATTAGTGTCACAAGTAAATAAAATCTTGGTGAAATAATAGACTACCTAGCACTTACGGCCACAGGGCTCTATTATGCCTCATTTGCAGAGACAGGGTCTCGCTTTCGCCCAGCCTGGAGTGCAGTGGTGCAATCATAGCTCCCTGCAGCCTCAACCACCCAGGCTTGAGCCATCCTCCTGAGGAGCTGGGACCATAGTTGTGTGCCACTGTGCGTGGCTGTTTTTCATTTTTTGTAGAGAAGGGGTCTAGCTTTGTTGCCCCAGCTGGTCTCGAACCCCTGGCTCCAAGCTATCCTCCTACCTTGGCCTCCCAGAGTGTTGCAGTTACAGGCATGAGCCACCATGTCCAGCGCAAATCCACAGGTTTCTTACTGGTAAAGGCATATCAGGCTTGTTTTTAGTTTCATTTTCAGAAAACTTCTGGCCATTACTGTGACTTTTATTTGAACCAGTCTCATTTAATGATTCATAAGGCCGGGCGCAGCGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACAATGTCAGGAGTTCAAGACCAGCCTGGCCAATACAGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGACACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAATCAGAGGTTGCAGTGAGCCAAGAATGCGCTGCTGCACTCCAGCCTGGGTGACATAGTGAGACTCTGTCTTTAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTTAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATGGCGTGAACACCCAGGAGGCGGAGCGTGCAGTGAGCCGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGCCTCAAAAAAAATAATTAATTAATTAATTAAAAAATGATTGATAAAAAGTGAGTATCCAAAGCATATAATGTACCCCAGGTAAACAGCTTGTGTCACTTGAAGCTTATGAACAAGGACAGGTACCTGTGTGTCCTGCCAGCTCACGACTCACGCGCACGTTCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGAGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAA
Task1_train_40
This gene mutation involves GNB1 (G protein subunit beta 1) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
Pathogenic; Intellectual disability, autosomal dominant 42
TCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAAAACCCAGACTCTGGTGGCTTATGTGCTCCCATGTTACATGTGCTTCAGACAAAGCCACTTATTTATAAGAAAAAAAATCTCTGGTCGGGCACAGTTGCTCACGTTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTAGTGCGTCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTAGGAAGCGGAGGTTACAGTGAGCCACAATCATGCCACTGGACACCAGCCTGGGCAACAGAGTGAGACTCTGTTTCAAGAAAGAAAGAAAGAAAGGAAAGGAAGGCTCTAAATGTCAGACCAACTTCAAAGCATGAACAAAAACACTGTCACAGACCACAGTTGAGAGTGGAGATGCCTGGCCCCAACCGAATGCAGGCCACATCACCCCTGGCACCCATTCCCTTTGTCAGCTGAGACAGGCTGACATCATTTCATAAGTGTTTCTGTTTGGTTTCATTACAAATCAAATTAGAGGCTCATGTCTTTAATCCCAACACTTTGGGAGGCCAAGGTAGGTGGATCACAGGAGTTTGAGACCAGCATGGCCTCATGCTAGCATGGTAAAATCCCGTCTCCACTACAAAAACACAAAAAAATAGCTGGGTATGGTAGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGTGGGAAAACTGCTTGAACCCAGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGATCCTGACTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGAAAGAACAAACCACTTTTAGACATTCCAAATTCATGAAACATTTCTCACCCAAAATACCCCATGAAATTTCCCAGACTGAGCTAAAATTGGAATCAAGGTCTCCTAGAAACCAAAGGAGGCGTTCCCTCCTCACCTGCTTGGTAAACAACAGCACCACTGCGCATGGTCCGGGAGCAGAGACCAGTAACTATCACGAATTTTTTCTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCCGTGGCCCAGGCTGCAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCGGGGTTCATGCCATTCTCCTGCCCCAGTCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCAGCTAATTCTTTTTGTATTTTTAGCAGAGACAGGGTCTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCACGCCCGGCCTCTTTTTTTTGTTTTTGAGATGGAGTTTTGCTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGTCGGCTCACCGCAACCTCCACTTCCCAGATTTGAGCAATTTTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGACACGCGCCACCACAGCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTAATCAGGCTGGTCTCGAACTCCCGACCCTCAGGTGATCCGCCCACCTCGGCCTCCCAACGTTTTGGTATTACAAGCGTTGAGCCACTGCGCCCGACCATGAATTTTTTCATAACTATTTCCTTGCTCTGGCAACTGTGCTCAGTTCGGAATCCACATGTTGAAAAGGAGCTCCATACTACAAAGGAGAATATGAATAAGGAGCAAAAGAATTTCACCTTAGCAGGCAAGTAAGGTGGGTGAAAGGTAACTCCTGGGAACCACAGTTGCTTATGAGAGGTCCTAAGGAACCCTGTAGCACAGAATGCTGTTTTCAAGGAAGAGCAAGAAGGTTCCACTGTTTG
TCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGTTAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAAAACCCAGACTCTGGTGGCTTATGTGCTCCCATGTTACATGTGCTTCAGACAAAGCCACTTATTTATAAGAAAAAAAATCTCTGGTCGGGCACAGTTGCTCACGTTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTAGTGCGTCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTAGGAAGCGGAGGTTACAGTGAGCCACAATCATGCCACTGGACACCAGCCTGGGCAACAGAGTGAGACTCTGTTTCAAGAAAGAAAGAAAGAAAGGAAAGGAAGGCTCTAAATGTCAGACCAACTTCAAAGCATGAACAAAAACACTGTCACAGACCACAGTTGAGAGTGGAGATGCCTGGCCCCAACCGAATGCAGGCCACATCACCCCTGGCACCCATTCCCTTTGTCAGCTGAGACAGGCTGACATCATTTCATAAGTGTTTCTGTTTGGTTTCATTACAAATCAAATTAGAGGCTCATGTCTTTAATCCCAACACTTTGGGAGGCCAAGGTAGGTGGATCACAGGAGTTTGAGACCAGCATGGCCTCATGCTAGCATGGTAAAATCCCGTCTCCACTACAAAAACACAAAAAAATAGCTGGGTATGGTAGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGTGGGAAAACTGCTTGAACCCAGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGATCCTGACTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGAAAGAACAAACCACTTTTAGACATTCCAAATTCATGAAACATTTCTCACCCAAAATACCCCATGAAATTTCCCAGACTGAGCTAAAATTGGAATCAAGGTCTCCTAGAAACCAAAGGAGGCGTTCCCTCCTCACCTGCTTGGTAAACAACAGCACCACTGCGCATGGTCCGGGAGCAGAGACCAGTAACTATCACGAATTTTTTCTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCCGTGGCCCAGGCTGCAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCGGGGTTCATGCCATTCTCCTGCCCCAGTCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCAGCTAATTCTTTTTGTATTTTTAGCAGAGACAGGGTCTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCACGCCCGGCCTCTTTTTTTTGTTTTTGAGATGGAGTTTTGCTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGTCGGCTCACCGCAACCTCCACTTCCCAGATTTGAGCAATTTTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGACACGCGCCACCACAGCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTAATCAGGCTGGTCTCGAACTCCCGACCCTCAGGTGATCCGCCCACCTCGGCCTCCCAACGTTTTGGTATTACAAGCGTTGAGCCACTGCGCCCGACCATGAATTTTTTCATAACTATTTCCTTGCTCTGGCAACTGTGCTCAGTTCGGAATCCACATGTTGAAAAGGAGCTCCATACTACAAAGGAGAATATGAATAAGGAGCAAAAGAATTTCACCTTAGCAGGCAAGTAAGGTGGGTGAAAGGTAACTCCTGGGAACCACAGTTGCTTATGAGAGGTCCTAAGGAACCCTGTAGCACAGAATGCTGTTTTCAAGGAAGAGCAAGAAGGTTCCACTGTTTG
Task1_train_41
Here is a mutation in GNB1 (G protein subunit beta 1) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Acute lymphoid leukemia
TCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAAAACCCAGACTCTGGTGGCTTATGTGCTCCCATGTTACATGTGCTTCAGACAAAGCCACTTATTTATAAGAAAAAAAATCTCTGGTCGGGCACAGTTGCTCACGTTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTAGTGCGTCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTAGGAAGCGGAGGTTACAGTGAGCCACAATCATGCCACTGGACACCAGCCTGGGCAACAGAGTGAGACTCTGTTTCAAGAAAGAAAGAAAGAAAGGAAAGGAAGGCTCTAAATGTCAGACCAACTTCAAAGCATGAACAAAAACACTGTCACAGACCACAGTTGAGAGTGGAGATGCCTGGCCCCAACCGAATGCAGGCCACATCACCCCTGGCACCCATTCCCTTTGTCAGCTGAGACAGGCTGACATCATTTCATAAGTGTTTCTGTTTGGTTTCATTACAAATCAAATTAGAGGCTCATGTCTTTAATCCCAACACTTTGGGAGGCCAAGGTAGGTGGATCACAGGAGTTTGAGACCAGCATGGCCTCATGCTAGCATGGTAAAATCCCGTCTCCACTACAAAAACACAAAAAAATAGCTGGGTATGGTAGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGTGGGAAAACTGCTTGAACCCAGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGATCCTGACTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGAAAGAACAAACCACTTTTAGACATTCCAAATTCATGAAACATTTCTCACCCAAAATACCCCATGAAATTTCCCAGACTGAGCTAAAATTGGAATCAAGGTCTCCTAGAAACCAAAGGAGGCGTTCCCTCCTCACCTGCTTGGTAAACAACAGCACCACTGCGCATGGTCCGGGAGCAGAGACCAGTAACTATCACGAATTTTTTCTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCCGTGGCCCAGGCTGCAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCGGGGTTCATGCCATTCTCCTGCCCCAGTCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCAGCTAATTCTTTTTGTATTTTTAGCAGAGACAGGGTCTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCACGCCCGGCCTCTTTTTTTTGTTTTTGAGATGGAGTTTTGCTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGTCGGCTCACCGCAACCTCCACTTCCCAGATTTGAGCAATTTTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGACACGCGCCACCACAGCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTAATCAGGCTGGTCTCGAACTCCCGACCCTCAGGTGATCCGCCCACCTCGGCCTCCCAACGTTTTGGTATTACAAGCGTTGAGCCACTGCGCCCGACCATGAATTTTTTCATAACTATTTCCTTGCTCTGGCAACTGTGCTCAGTTCGGAATCCACATGTTGAAAAGGAGCTCCATACTACAAAGGAGAATATGAATAAGGAGCAAAAGAATTTCACCTTAGCAGGCAAGTAAGGTGGGTGAAAGGTAACTCCTGGGAACCACAGTTGCTTATGAGAGGTCCTAAGGAACCCTGTAGCACAGAATGCTGTTTTCAAGGAAGAGCAAGAAGGTTCCACTGTTTG
TCCCCTCACGAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGTTAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAAAACCCAGACTCTGGTGGCTTATGTGCTCCCATGTTACATGTGCTTCAGACAAAGCCACTTATTTATAAGAAAAAAAATCTCTGGTCGGGCACAGTTGCTCACGTTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTAGTGCGTCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTAGGAAGCGGAGGTTACAGTGAGCCACAATCATGCCACTGGACACCAGCCTGGGCAACAGAGTGAGACTCTGTTTCAAGAAAGAAAGAAAGAAAGGAAAGGAAGGCTCTAAATGTCAGACCAACTTCAAAGCATGAACAAAAACACTGTCACAGACCACAGTTGAGAGTGGAGATGCCTGGCCCCAACCGAATGCAGGCCACATCACCCCTGGCACCCATTCCCTTTGTCAGCTGAGACAGGCTGACATCATTTCATAAGTGTTTCTGTTTGGTTTCATTACAAATCAAATTAGAGGCTCATGTCTTTAATCCCAACACTTTGGGAGGCCAAGGTAGGTGGATCACAGGAGTTTGAGACCAGCATGGCCTCATGCTAGCATGGTAAAATCCCGTCTCCACTACAAAAACACAAAAAAATAGCTGGGTATGGTAGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGTGGGAAAACTGCTTGAACCCAGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGATCCTGACTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGAAAGAACAAACCACTTTTAGACATTCCAAATTCATGAAACATTTCTCACCCAAAATACCCCATGAAATTTCCCAGACTGAGCTAAAATTGGAATCAAGGTCTCCTAGAAACCAAAGGAGGCGTTCCCTCCTCACCTGCTTGGTAAACAACAGCACCACTGCGCATGGTCCGGGAGCAGAGACCAGTAACTATCACGAATTTTTTCTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCCGTGGCCCAGGCTGCAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCGGGGTTCATGCCATTCTCCTGCCCCAGTCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCAGCTAATTCTTTTTGTATTTTTAGCAGAGACAGGGTCTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCACGCCCGGCCTCTTTTTTTTGTTTTTGAGATGGAGTTTTGCTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGTCGGCTCACCGCAACCTCCACTTCCCAGATTTGAGCAATTTTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGACACGCGCCACCACAGCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTAATCAGGCTGGTCTCGAACTCCCGACCCTCAGGTGATCCGCCCACCTCGGCCTCCCAACGTTTTGGTATTACAAGCGTTGAGCCACTGCGCCCGACCATGAATTTTTTCATAACTATTTCCTTGCTCTGGCAACTGTGCTCAGTTCGGAATCCACATGTTGAAAAGGAGCTCCATACTACAAAGGAGAATATGAATAAGGAGCAAAAGAATTTCACCTTAGCAGGCAAGTAAGGTGGGTGAAAGGTAACTCCTGGGAACCACAGTTGCTTATGAGAGGTCCTAAGGAACCCTGTAGCACAGAATGCTGTTTTCAAGGAAGAGCAAGAAGGTTCCACTGTTTG
Task1_train_42
A mutation on Chromosome 1 affecting GNB1 (G protein subunit beta 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; not provided
GAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAAAACCCAGACTCTGGTGGCTTATGTGCTCCCATGTTACATGTGCTTCAGACAAAGCCACTTATTTATAAGAAAAAAAATCTCTGGTCGGGCACAGTTGCTCACGTTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTAGTGCGTCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTAGGAAGCGGAGGTTACAGTGAGCCACAATCATGCCACTGGACACCAGCCTGGGCAACAGAGTGAGACTCTGTTTCAAGAAAGAAAGAAAGAAAGGAAAGGAAGGCTCTAAATGTCAGACCAACTTCAAAGCATGAACAAAAACACTGTCACAGACCACAGTTGAGAGTGGAGATGCCTGGCCCCAACCGAATGCAGGCCACATCACCCCTGGCACCCATTCCCTTTGTCAGCTGAGACAGGCTGACATCATTTCATAAGTGTTTCTGTTTGGTTTCATTACAAATCAAATTAGAGGCTCATGTCTTTAATCCCAACACTTTGGGAGGCCAAGGTAGGTGGATCACAGGAGTTTGAGACCAGCATGGCCTCATGCTAGCATGGTAAAATCCCGTCTCCACTACAAAAACACAAAAAAATAGCTGGGTATGGTAGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGTGGGAAAACTGCTTGAACCCAGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGATCCTGACTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGAAAGAACAAACCACTTTTAGACATTCCAAATTCATGAAACATTTCTCACCCAAAATACCCCATGAAATTTCCCAGACTGAGCTAAAATTGGAATCAAGGTCTCCTAGAAACCAAAGGAGGCGTTCCCTCCTCACCTGCTTGGTAAACAACAGCACCACTGCGCATGGTCCGGGAGCAGAGACCAGTAACTATCACGAATTTTTTCTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCCGTGGCCCAGGCTGCAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCGGGGTTCATGCCATTCTCCTGCCCCAGTCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCAGCTAATTCTTTTTGTATTTTTAGCAGAGACAGGGTCTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCACGCCCGGCCTCTTTTTTTTGTTTTTGAGATGGAGTTTTGCTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGTCGGCTCACCGCAACCTCCACTTCCCAGATTTGAGCAATTTTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGACACGCGCCACCACAGCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTAATCAGGCTGGTCTCGAACTCCCGACCCTCAGGTGATCCGCCCACCTCGGCCTCCCAACGTTTTGGTATTACAAGCGTTGAGCCACTGCGCCCGACCATGAATTTTTTCATAACTATTTCCTTGCTCTGGCAACTGTGCTCAGTTCGGAATCCACATGTTGAAAAGGAGCTCCATACTACAAAGGAGAATATGAATAAGGAGCAAAAGAATTTCACCTTAGCAGGCAAGTAAGGTGGGTGAAAGGTAACTCCTGGGAACCACAGTTGCTTATGAGAGGTCCTAAGGAACCCTGTAGCACAGAATGCTGTTTTCAAGGAAGAGCAAGAAGGTTCCACTGTTTGATGCAGGGA
GAGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTAACATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAAAACCCAGACTCTGGTGGCTTATGTGCTCCCATGTTACATGTGCTTCAGACAAAGCCACTTATTTATAAGAAAAAAAATCTCTGGTCGGGCACAGTTGCTCACGTTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTAGTGCGTCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTAGGAAGCGGAGGTTACAGTGAGCCACAATCATGCCACTGGACACCAGCCTGGGCAACAGAGTGAGACTCTGTTTCAAGAAAGAAAGAAAGAAAGGAAAGGAAGGCTCTAAATGTCAGACCAACTTCAAAGCATGAACAAAAACACTGTCACAGACCACAGTTGAGAGTGGAGATGCCTGGCCCCAACCGAATGCAGGCCACATCACCCCTGGCACCCATTCCCTTTGTCAGCTGAGACAGGCTGACATCATTTCATAAGTGTTTCTGTTTGGTTTCATTACAAATCAAATTAGAGGCTCATGTCTTTAATCCCAACACTTTGGGAGGCCAAGGTAGGTGGATCACAGGAGTTTGAGACCAGCATGGCCTCATGCTAGCATGGTAAAATCCCGTCTCCACTACAAAAACACAAAAAAATAGCTGGGTATGGTAGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGTGGGAAAACTGCTTGAACCCAGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGATCCTGACTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGAAAGAACAAACCACTTTTAGACATTCCAAATTCATGAAACATTTCTCACCCAAAATACCCCATGAAATTTCCCAGACTGAGCTAAAATTGGAATCAAGGTCTCCTAGAAACCAAAGGAGGCGTTCCCTCCTCACCTGCTTGGTAAACAACAGCACCACTGCGCATGGTCCGGGAGCAGAGACCAGTAACTATCACGAATTTTTTCTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCCGTGGCCCAGGCTGCAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCGGGGTTCATGCCATTCTCCTGCCCCAGTCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCAGCTAATTCTTTTTGTATTTTTAGCAGAGACAGGGTCTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCACGCCCGGCCTCTTTTTTTTGTTTTTGAGATGGAGTTTTGCTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGTCGGCTCACCGCAACCTCCACTTCCCAGATTTGAGCAATTTTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGACACGCGCCACCACAGCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTAATCAGGCTGGTCTCGAACTCCCGACCCTCAGGTGATCCGCCCACCTCGGCCTCCCAACGTTTTGGTATTACAAGCGTTGAGCCACTGCGCCCGACCATGAATTTTTTCATAACTATTTCCTTGCTCTGGCAACTGTGCTCAGTTCGGAATCCACATGTTGAAAAGGAGCTCCATACTACAAAGGAGAATATGAATAAGGAGCAAAAGAATTTCACCTTAGCAGGCAAGTAAGGTGGGTGAAAGGTAACTCCTGGGAACCACAGTTGCTTATGAGAGGTCCTAAGGAACCCTGTAGCACAGAATGCTGTTTTCAAGGAAGAGCAAGAAGGTTCCACTGTTTGATGCAGGGA
Task1_train_43
A variant affecting Chromosome 1, within the gene GNB1 (G protein subunit beta 1), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Intellectual disability, autosomal dominant 42
AGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAAAACCCAGACTCTGGTGGCTTATGTGCTCCCATGTTACATGTGCTTCAGACAAAGCCACTTATTTATAAGAAAAAAAATCTCTGGTCGGGCACAGTTGCTCACGTTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTAGTGCGTCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTAGGAAGCGGAGGTTACAGTGAGCCACAATCATGCCACTGGACACCAGCCTGGGCAACAGAGTGAGACTCTGTTTCAAGAAAGAAAGAAAGAAAGGAAAGGAAGGCTCTAAATGTCAGACCAACTTCAAAGCATGAACAAAAACACTGTCACAGACCACAGTTGAGAGTGGAGATGCCTGGCCCCAACCGAATGCAGGCCACATCACCCCTGGCACCCATTCCCTTTGTCAGCTGAGACAGGCTGACATCATTTCATAAGTGTTTCTGTTTGGTTTCATTACAAATCAAATTAGAGGCTCATGTCTTTAATCCCAACACTTTGGGAGGCCAAGGTAGGTGGATCACAGGAGTTTGAGACCAGCATGGCCTCATGCTAGCATGGTAAAATCCCGTCTCCACTACAAAAACACAAAAAAATAGCTGGGTATGGTAGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGTGGGAAAACTGCTTGAACCCAGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGATCCTGACTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGAAAGAACAAACCACTTTTAGACATTCCAAATTCATGAAACATTTCTCACCCAAAATACCCCATGAAATTTCCCAGACTGAGCTAAAATTGGAATCAAGGTCTCCTAGAAACCAAAGGAGGCGTTCCCTCCTCACCTGCTTGGTAAACAACAGCACCACTGCGCATGGTCCGGGAGCAGAGACCAGTAACTATCACGAATTTTTTCTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCCGTGGCCCAGGCTGCAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCGGGGTTCATGCCATTCTCCTGCCCCAGTCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCAGCTAATTCTTTTTGTATTTTTAGCAGAGACAGGGTCTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCACGCCCGGCCTCTTTTTTTTGTTTTTGAGATGGAGTTTTGCTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGTCGGCTCACCGCAACCTCCACTTCCCAGATTTGAGCAATTTTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGACACGCGCCACCACAGCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTAATCAGGCTGGTCTCGAACTCCCGACCCTCAGGTGATCCGCCCACCTCGGCCTCCCAACGTTTTGGTATTACAAGCGTTGAGCCACTGCGCCCGACCATGAATTTTTTCATAACTATTTCCTTGCTCTGGCAACTGTGCTCAGTTCGGAATCCACATGTTGAAAAGGAGCTCCATACTACAAAGGAGAATATGAATAAGGAGCAAAAGAATTTCACCTTAGCAGGCAAGTAAGGTGGGTGAAAGGTAACTCCTGGGAACCACAGTTGCTTATGAGAGGTCCTAAGGAACCCTGTAGCACAGAATGCTGTTTTCAAGGAAGAGCAAGAAGGTTCCACTGTTTGATGCAGGGAT
AGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACAATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAAAACCCAGACTCTGGTGGCTTATGTGCTCCCATGTTACATGTGCTTCAGACAAAGCCACTTATTTATAAGAAAAAAAATCTCTGGTCGGGCACAGTTGCTCACGTTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTAGTGCGTCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTAGGAAGCGGAGGTTACAGTGAGCCACAATCATGCCACTGGACACCAGCCTGGGCAACAGAGTGAGACTCTGTTTCAAGAAAGAAAGAAAGAAAGGAAAGGAAGGCTCTAAATGTCAGACCAACTTCAAAGCATGAACAAAAACACTGTCACAGACCACAGTTGAGAGTGGAGATGCCTGGCCCCAACCGAATGCAGGCCACATCACCCCTGGCACCCATTCCCTTTGTCAGCTGAGACAGGCTGACATCATTTCATAAGTGTTTCTGTTTGGTTTCATTACAAATCAAATTAGAGGCTCATGTCTTTAATCCCAACACTTTGGGAGGCCAAGGTAGGTGGATCACAGGAGTTTGAGACCAGCATGGCCTCATGCTAGCATGGTAAAATCCCGTCTCCACTACAAAAACACAAAAAAATAGCTGGGTATGGTAGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGTGGGAAAACTGCTTGAACCCAGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGATCCTGACTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGAAAGAACAAACCACTTTTAGACATTCCAAATTCATGAAACATTTCTCACCCAAAATACCCCATGAAATTTCCCAGACTGAGCTAAAATTGGAATCAAGGTCTCCTAGAAACCAAAGGAGGCGTTCCCTCCTCACCTGCTTGGTAAACAACAGCACCACTGCGCATGGTCCGGGAGCAGAGACCAGTAACTATCACGAATTTTTTCTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCCGTGGCCCAGGCTGCAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCGGGGTTCATGCCATTCTCCTGCCCCAGTCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCAGCTAATTCTTTTTGTATTTTTAGCAGAGACAGGGTCTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCACGCCCGGCCTCTTTTTTTTGTTTTTGAGATGGAGTTTTGCTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGTCGGCTCACCGCAACCTCCACTTCCCAGATTTGAGCAATTTTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGACACGCGCCACCACAGCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTAATCAGGCTGGTCTCGAACTCCCGACCCTCAGGTGATCCGCCCACCTCGGCCTCCCAACGTTTTGGTATTACAAGCGTTGAGCCACTGCGCCCGACCATGAATTTTTTCATAACTATTTCCTTGCTCTGGCAACTGTGCTCAGTTCGGAATCCACATGTTGAAAAGGAGCTCCATACTACAAAGGAGAATATGAATAAGGAGCAAAAGAATTTCACCTTAGCAGGCAAGTAAGGTGGGTGAAAGGTAACTCCTGGGAACCACAGTTGCTTATGAGAGGTCCTAAGGAACCCTGTAGCACAGAATGCTGTTTTCAAGGAAGAGCAAGAAGGTTCCACTGTTTGATGCAGGGAT
Task1_train_44
The gene GNB1 (G protein subunit beta 1), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Neurodevelopmental delay
AGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAAAACCCAGACTCTGGTGGCTTATGTGCTCCCATGTTACATGTGCTTCAGACAAAGCCACTTATTTATAAGAAAAAAAATCTCTGGTCGGGCACAGTTGCTCACGTTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTAGTGCGTCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTAGGAAGCGGAGGTTACAGTGAGCCACAATCATGCCACTGGACACCAGCCTGGGCAACAGAGTGAGACTCTGTTTCAAGAAAGAAAGAAAGAAAGGAAAGGAAGGCTCTAAATGTCAGACCAACTTCAAAGCATGAACAAAAACACTGTCACAGACCACAGTTGAGAGTGGAGATGCCTGGCCCCAACCGAATGCAGGCCACATCACCCCTGGCACCCATTCCCTTTGTCAGCTGAGACAGGCTGACATCATTTCATAAGTGTTTCTGTTTGGTTTCATTACAAATCAAATTAGAGGCTCATGTCTTTAATCCCAACACTTTGGGAGGCCAAGGTAGGTGGATCACAGGAGTTTGAGACCAGCATGGCCTCATGCTAGCATGGTAAAATCCCGTCTCCACTACAAAAACACAAAAAAATAGCTGGGTATGGTAGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGTGGGAAAACTGCTTGAACCCAGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGATCCTGACTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGAAAGAACAAACCACTTTTAGACATTCCAAATTCATGAAACATTTCTCACCCAAAATACCCCATGAAATTTCCCAGACTGAGCTAAAATTGGAATCAAGGTCTCCTAGAAACCAAAGGAGGCGTTCCCTCCTCACCTGCTTGGTAAACAACAGCACCACTGCGCATGGTCCGGGAGCAGAGACCAGTAACTATCACGAATTTTTTCTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCCGTGGCCCAGGCTGCAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCGGGGTTCATGCCATTCTCCTGCCCCAGTCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCAGCTAATTCTTTTTGTATTTTTAGCAGAGACAGGGTCTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCACGCCCGGCCTCTTTTTTTTGTTTTTGAGATGGAGTTTTGCTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGTCGGCTCACCGCAACCTCCACTTCCCAGATTTGAGCAATTTTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGACACGCGCCACCACAGCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTAATCAGGCTGGTCTCGAACTCCCGACCCTCAGGTGATCCGCCCACCTCGGCCTCCCAACGTTTTGGTATTACAAGCGTTGAGCCACTGCGCCCGACCATGAATTTTTTCATAACTATTTCCTTGCTCTGGCAACTGTGCTCAGTTCGGAATCCACATGTTGAAAAGGAGCTCCATACTACAAAGGAGAATATGAATAAGGAGCAAAAGAATTTCACCTTAGCAGGCAAGTAAGGTGGGTGAAAGGTAACTCCTGGGAACCACAGTTGCTTATGAGAGGTCCTAAGGAACCCTGTAGCACAGAATGCTGTTTTCAAGGAAGAGCAAGAAGGTTCCACTGTTTGATGCAGGGAT
AGTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACAATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAAAACCCAGACTCTGGTGGCTTATGTGCTCCCATGTTACATGTGCTTCAGACAAAGCCACTTATTTATAAGAAAAAAAATCTCTGGTCGGGCACAGTTGCTCACGTTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTAGTGCGTCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTAGGAAGCGGAGGTTACAGTGAGCCACAATCATGCCACTGGACACCAGCCTGGGCAACAGAGTGAGACTCTGTTTCAAGAAAGAAAGAAAGAAAGGAAAGGAAGGCTCTAAATGTCAGACCAACTTCAAAGCATGAACAAAAACACTGTCACAGACCACAGTTGAGAGTGGAGATGCCTGGCCCCAACCGAATGCAGGCCACATCACCCCTGGCACCCATTCCCTTTGTCAGCTGAGACAGGCTGACATCATTTCATAAGTGTTTCTGTTTGGTTTCATTACAAATCAAATTAGAGGCTCATGTCTTTAATCCCAACACTTTGGGAGGCCAAGGTAGGTGGATCACAGGAGTTTGAGACCAGCATGGCCTCATGCTAGCATGGTAAAATCCCGTCTCCACTACAAAAACACAAAAAAATAGCTGGGTATGGTAGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGTGGGAAAACTGCTTGAACCCAGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGATCCTGACTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGAAAGAACAAACCACTTTTAGACATTCCAAATTCATGAAACATTTCTCACCCAAAATACCCCATGAAATTTCCCAGACTGAGCTAAAATTGGAATCAAGGTCTCCTAGAAACCAAAGGAGGCGTTCCCTCCTCACCTGCTTGGTAAACAACAGCACCACTGCGCATGGTCCGGGAGCAGAGACCAGTAACTATCACGAATTTTTTCTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCCGTGGCCCAGGCTGCAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCGGGGTTCATGCCATTCTCCTGCCCCAGTCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCAGCTAATTCTTTTTGTATTTTTAGCAGAGACAGGGTCTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCACGCCCGGCCTCTTTTTTTTGTTTTTGAGATGGAGTTTTGCTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGTCGGCTCACCGCAACCTCCACTTCCCAGATTTGAGCAATTTTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGACACGCGCCACCACAGCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTAATCAGGCTGGTCTCGAACTCCCGACCCTCAGGTGATCCGCCCACCTCGGCCTCCCAACGTTTTGGTATTACAAGCGTTGAGCCACTGCGCCCGACCATGAATTTTTTCATAACTATTTCCTTGCTCTGGCAACTGTGCTCAGTTCGGAATCCACATGTTGAAAAGGAGCTCCATACTACAAAGGAGAATATGAATAAGGAGCAAAAGAATTTCACCTTAGCAGGCAAGTAAGGTGGGTGAAAGGTAACTCCTGGGAACCACAGTTGCTTATGAGAGGTCCTAAGGAACCCTGTAGCACAGAATGCTGTTTTCAAGGAAGAGCAAGAAGGTTCCACTGTTTGATGCAGGGAT
Task1_train_45
This alteration in GNB1 (G protein subunit beta 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Intellectual disability, autosomal dominant 42
GTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAAAACCCAGACTCTGGTGGCTTATGTGCTCCCATGTTACATGTGCTTCAGACAAAGCCACTTATTTATAAGAAAAAAAATCTCTGGTCGGGCACAGTTGCTCACGTTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTAGTGCGTCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTAGGAAGCGGAGGTTACAGTGAGCCACAATCATGCCACTGGACACCAGCCTGGGCAACAGAGTGAGACTCTGTTTCAAGAAAGAAAGAAAGAAAGGAAAGGAAGGCTCTAAATGTCAGACCAACTTCAAAGCATGAACAAAAACACTGTCACAGACCACAGTTGAGAGTGGAGATGCCTGGCCCCAACCGAATGCAGGCCACATCACCCCTGGCACCCATTCCCTTTGTCAGCTGAGACAGGCTGACATCATTTCATAAGTGTTTCTGTTTGGTTTCATTACAAATCAAATTAGAGGCTCATGTCTTTAATCCCAACACTTTGGGAGGCCAAGGTAGGTGGATCACAGGAGTTTGAGACCAGCATGGCCTCATGCTAGCATGGTAAAATCCCGTCTCCACTACAAAAACACAAAAAAATAGCTGGGTATGGTAGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGTGGGAAAACTGCTTGAACCCAGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGATCCTGACTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGAAAGAACAAACCACTTTTAGACATTCCAAATTCATGAAACATTTCTCACCCAAAATACCCCATGAAATTTCCCAGACTGAGCTAAAATTGGAATCAAGGTCTCCTAGAAACCAAAGGAGGCGTTCCCTCCTCACCTGCTTGGTAAACAACAGCACCACTGCGCATGGTCCGGGAGCAGAGACCAGTAACTATCACGAATTTTTTCTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCCGTGGCCCAGGCTGCAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCGGGGTTCATGCCATTCTCCTGCCCCAGTCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCAGCTAATTCTTTTTGTATTTTTAGCAGAGACAGGGTCTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCACGCCCGGCCTCTTTTTTTTGTTTTTGAGATGGAGTTTTGCTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGTCGGCTCACCGCAACCTCCACTTCCCAGATTTGAGCAATTTTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGACACGCGCCACCACAGCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTAATCAGGCTGGTCTCGAACTCCCGACCCTCAGGTGATCCGCCCACCTCGGCCTCCCAACGTTTTGGTATTACAAGCGTTGAGCCACTGCGCCCGACCATGAATTTTTTCATAACTATTTCCTTGCTCTGGCAACTGTGCTCAGTTCGGAATCCACATGTTGAAAAGGAGCTCCATACTACAAAGGAGAATATGAATAAGGAGCAAAAGAATTTCACCTTAGCAGGCAAGTAAGGTGGGTGAAAGGTAACTCCTGGGAACCACAGTTGCTTATGAGAGGTCCTAAGGAACCCTGTAGCACAGAATGCTGTTTTCAAGGAAGAGCAAGAAGGTTCCACTGTTTGATGCAGGGATA
GTTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCTTCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAAAACCCAGACTCTGGTGGCTTATGTGCTCCCATGTTACATGTGCTTCAGACAAAGCCACTTATTTATAAGAAAAAAAATCTCTGGTCGGGCACAGTTGCTCACGTTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTAGTGCGTCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTAGGAAGCGGAGGTTACAGTGAGCCACAATCATGCCACTGGACACCAGCCTGGGCAACAGAGTGAGACTCTGTTTCAAGAAAGAAAGAAAGAAAGGAAAGGAAGGCTCTAAATGTCAGACCAACTTCAAAGCATGAACAAAAACACTGTCACAGACCACAGTTGAGAGTGGAGATGCCTGGCCCCAACCGAATGCAGGCCACATCACCCCTGGCACCCATTCCCTTTGTCAGCTGAGACAGGCTGACATCATTTCATAAGTGTTTCTGTTTGGTTTCATTACAAATCAAATTAGAGGCTCATGTCTTTAATCCCAACACTTTGGGAGGCCAAGGTAGGTGGATCACAGGAGTTTGAGACCAGCATGGCCTCATGCTAGCATGGTAAAATCCCGTCTCCACTACAAAAACACAAAAAAATAGCTGGGTATGGTAGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGTGGGAAAACTGCTTGAACCCAGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGATCCTGACTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGAAAGAACAAACCACTTTTAGACATTCCAAATTCATGAAACATTTCTCACCCAAAATACCCCATGAAATTTCCCAGACTGAGCTAAAATTGGAATCAAGGTCTCCTAGAAACCAAAGGAGGCGTTCCCTCCTCACCTGCTTGGTAAACAACAGCACCACTGCGCATGGTCCGGGAGCAGAGACCAGTAACTATCACGAATTTTTTCTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCCGTGGCCCAGGCTGCAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCGGGGTTCATGCCATTCTCCTGCCCCAGTCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCAGCTAATTCTTTTTGTATTTTTAGCAGAGACAGGGTCTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCACGCCCGGCCTCTTTTTTTTGTTTTTGAGATGGAGTTTTGCTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGTCGGCTCACCGCAACCTCCACTTCCCAGATTTGAGCAATTTTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGACACGCGCCACCACAGCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTAATCAGGCTGGTCTCGAACTCCCGACCCTCAGGTGATCCGCCCACCTCGGCCTCCCAACGTTTTGGTATTACAAGCGTTGAGCCACTGCGCCCGACCATGAATTTTTTCATAACTATTTCCTTGCTCTGGCAACTGTGCTCAGTTCGGAATCCACATGTTGAAAAGGAGCTCCATACTACAAAGGAGAATATGAATAAGGAGCAAAAGAATTTCACCTTAGCAGGCAAGTAAGGTGGGTGAAAGGTAACTCCTGGGAACCACAGTTGCTTATGAGAGGTCCTAAGGAACCCTGTAGCACAGAATGCTGTTTTCAAGGAAGAGCAAGAAGGTTCCACTGTTTGATGCAGGGATA
Task1_train_46
This variant impacts the gene GNB1 (G protein subunit beta 1) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
Pathogenic; not provided
TTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCATCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAAAACCCAGACTCTGGTGGCTTATGTGCTCCCATGTTACATGTGCTTCAGACAAAGCCACTTATTTATAAGAAAAAAAATCTCTGGTCGGGCACAGTTGCTCACGTTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTAGTGCGTCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTAGGAAGCGGAGGTTACAGTGAGCCACAATCATGCCACTGGACACCAGCCTGGGCAACAGAGTGAGACTCTGTTTCAAGAAAGAAAGAAAGAAAGGAAAGGAAGGCTCTAAATGTCAGACCAACTTCAAAGCATGAACAAAAACACTGTCACAGACCACAGTTGAGAGTGGAGATGCCTGGCCCCAACCGAATGCAGGCCACATCACCCCTGGCACCCATTCCCTTTGTCAGCTGAGACAGGCTGACATCATTTCATAAGTGTTTCTGTTTGGTTTCATTACAAATCAAATTAGAGGCTCATGTCTTTAATCCCAACACTTTGGGAGGCCAAGGTAGGTGGATCACAGGAGTTTGAGACCAGCATGGCCTCATGCTAGCATGGTAAAATCCCGTCTCCACTACAAAAACACAAAAAAATAGCTGGGTATGGTAGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGTGGGAAAACTGCTTGAACCCAGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGATCCTGACTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGAAAGAACAAACCACTTTTAGACATTCCAAATTCATGAAACATTTCTCACCCAAAATACCCCATGAAATTTCCCAGACTGAGCTAAAATTGGAATCAAGGTCTCCTAGAAACCAAAGGAGGCGTTCCCTCCTCACCTGCTTGGTAAACAACAGCACCACTGCGCATGGTCCGGGAGCAGAGACCAGTAACTATCACGAATTTTTTCTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCCGTGGCCCAGGCTGCAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCGGGGTTCATGCCATTCTCCTGCCCCAGTCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCAGCTAATTCTTTTTGTATTTTTAGCAGAGACAGGGTCTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCACGCCCGGCCTCTTTTTTTTGTTTTTGAGATGGAGTTTTGCTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGTCGGCTCACCGCAACCTCCACTTCCCAGATTTGAGCAATTTTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGACACGCGCCACCACAGCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTAATCAGGCTGGTCTCGAACTCCCGACCCTCAGGTGATCCGCCCACCTCGGCCTCCCAACGTTTTGGTATTACAAGCGTTGAGCCACTGCGCCCGACCATGAATTTTTTCATAACTATTTCCTTGCTCTGGCAACTGTGCTCAGTTCGGAATCCACATGTTGAAAAGGAGCTCCATACTACAAAGGAGAATATGAATAAGGAGCAAAAGAATTTCACCTTAGCAGGCAAGTAAGGTGGGTGAAAGGTAACTCCTGGGAACCACAGTTGCTTATGAGAGGTCCTAAGGAACCCTGTAGCACAGAATGCTGTTTTCAAGGAAGAGCAAGAAGGTTCCACTGTTTGATGCAGGGATAT
TTTTCAGATTGTAAATGGAGCAAATGTTATCCAGGCCACCGCAGGCCACATAGTTCCCAGAAGGGGCATATGCACAGGTCATGACCCAGGAGGAGCGCAGAGGGATGGCGTGGACCTAATGACAGAAAGACAGATGATGCAAACAACTTTATGTTCAAAAACAACACTGACACCAGGATTTTCTCATCTCCAACTTTCACTGCAAAGGAGGTAACAGAACAAAATAAGAGCCAAAATTATCTAGAGAGCGATTCCCATATGTGGCCACTCAGGTGAAGCATACTTAATGAGAAGTCCAGTGCTGCACATGGGATTCAAATTCAATCCACACAGTCCAGTTTTACTGAAGTCACAACTTATGATTAGGTGGAGTCTTAACAGTAGTGCTGCCCACTCATCAAAACCACATTAGGCCGGGTGCGGTCACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGTCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCTTAGCCAACATGGTGAAACCCCATGTCTCTACTAAATATACCAAAATTAGCTGGGCGTGATGGCGCATGCCTGTAGTTTCAGCTACTTGAGTGACTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAACAAACAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTAAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCTCAAATTGGTGAAACCCTGTCTGTGCTAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAAGGAGGCTGAAGCAGGAGAGTCGCTTGAACCAGGGGGGTGGAGGCTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCAGGGCGGTAAGAGCAATGCTCCGTCTCAAAAACACAAAAAAACCCACACGTATTGGAAGGAAAACACTGCATTATCCTGTCAAATGGCTATGAACTCATCTGAAAACAAAAAATTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGTTTGAGTGCAGTGGCGTGATCTAGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACTCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAAAATGCTGGAATTACAGGTGTGAGCCACGGCGCCCAGCCGAAAACAAAAGATTTTTATGGAATAACCAAAATGGACATTCCTACAATCTACCCTGCCACATCTCTCCCACTGTTTTAGATCTGCTGTAATTAATGCAATCATTTATACACATTTAGTATTCTTTAGTAAAATAAACTGAATTACATCTTTTACATACATGTTTGGACCAATGACAATACTTTTTATTCAAAACAATACACTTTGGATTAAGTCTTGAAAATAACATAAATTACACTTTAAAGTATGATGTCTTTCAGATGATCTCTTCTAAAAACTTGTAACTGAATGAAAAGTGATACTTCTGCACTCTATAAATAAAACATGAAACTTCCCAGACTCTGCTAAAACTGGAATTGAGGTCTCCTAGAAACACAGAAGGTCCTTAGCTCCCACCAGCTTGGTAAGGAGATGACGGACAACAGCACAACTGTGCCTGGTCCAGAGGAAGAGACCGTGACAGGTGGCACGTGACTCAGCTTCTATCTCACCTGCGCAACTTCACTACTAACAAACAGAGCTTGCCGCTGCTGCCTTCCCTATCCTGTATTACGTGATTTAACAAAATGAATCCAGAGCTTAAAACCCTGTTTCCTGGGTTGGTTTTTCAAGGAAGGGAATCCTCCAGTCCCTACCTTGTTGGTGGTGTAGCTGTCCCAGATGATAAGTTTACCACCCTGCGAGGCACTGACGAGAAGCCTGGAGGGACAGACAAAAGCAAACCTATCAGTACCGCACAACACAGAAAGTGTACAAGAGCAACAGACTAAAACCCAGACTCTGGTGGCTTATGTGCTCCCATGTTACATGTGCTTCAGACAAAGCCACTTATTTATAAGAAAAAAAATCTCTGGTCGGGCACAGTTGCTCACGTTTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTAGTGCGTCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTAGGAAGCGGAGGTTACAGTGAGCCACAATCATGCCACTGGACACCAGCCTGGGCAACAGAGTGAGACTCTGTTTCAAGAAAGAAAGAAAGAAAGGAAAGGAAGGCTCTAAATGTCAGACCAACTTCAAAGCATGAACAAAAACACTGTCACAGACCACAGTTGAGAGTGGAGATGCCTGGCCCCAACCGAATGCAGGCCACATCACCCCTGGCACCCATTCCCTTTGTCAGCTGAGACAGGCTGACATCATTTCATAAGTGTTTCTGTTTGGTTTCATTACAAATCAAATTAGAGGCTCATGTCTTTAATCCCAACACTTTGGGAGGCCAAGGTAGGTGGATCACAGGAGTTTGAGACCAGCATGGCCTCATGCTAGCATGGTAAAATCCCGTCTCCACTACAAAAACACAAAAAAATAGCTGGGTATGGTAGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGTGGGAAAACTGCTTGAACCCAGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCTAGCCTGGGCAACAGAGCGAGATCCTGACTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAACAGAAAGAACAAACCACTTTTAGACATTCCAAATTCATGAAACATTTCTCACCCAAAATACCCCATGAAATTTCCCAGACTGAGCTAAAATTGGAATCAAGGTCTCCTAGAAACCAAAGGAGGCGTTCCCTCCTCACCTGCTTGGTAAACAACAGCACCACTGCGCATGGTCCGGGAGCAGAGACCAGTAACTATCACGAATTTTTTCTTTTTTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCCGTGGCCCAGGCTGCAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCGGGGTTCATGCCATTCTCCTGCCCCAGTCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCAGCTAATTCTTTTTGTATTTTTAGCAGAGACAGGGTCTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCACGCCCGGCCTCTTTTTTTTGTTTTTGAGATGGAGTTTTGCTTTTGTTGCCCAGGCTGGAGTGCAATGGTGCGTCGGCTCACCGCAACCTCCACTTCCCAGATTTGAGCAATTTTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGACACGCGCCACCACAGCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCACGTTAATCAGGCTGGTCTCGAACTCCCGACCCTCAGGTGATCCGCCCACCTCGGCCTCCCAACGTTTTGGTATTACAAGCGTTGAGCCACTGCGCCCGACCATGAATTTTTTCATAACTATTTCCTTGCTCTGGCAACTGTGCTCAGTTCGGAATCCACATGTTGAAAAGGAGCTCCATACTACAAAGGAGAATATGAATAAGGAGCAAAAGAATTTCACCTTAGCAGGCAAGTAAGGTGGGTGAAAGGTAACTCCTGGGAACCACAGTTGCTTATGAGAGGTCCTAAGGAACCCTGTAGCACAGAATGCTGTTTTCAAGGAAGAGCAAGAAGGTTCCACTGTTTGATGCAGGGATAT
Task1_train_47
Mutation context: Chromosome 1, Gene GNB1 (G protein subunit beta 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; not provided
CCCAAAGTGCTGGGATGAGAGGCATGAGCCAATGTGCCTGGTTACTTATTTATTTTGAATATTTAAAAGAATTTTTGACAAGTAATTATATGTATATTTACGGAGTACAATGTGATATTCTGATATATATCCACATTGTGAAATAAATCAATCAAGCTAATCAACATACCCATCACTTCCAATTTGCTCTGTGGTGGGAACACTTAAGTCTACTTTACTAACAATTTTGAAACACACGTTATTATGAACTACTCTCCGTGCTGTGTGGCACATTTCTAAAATTTATTCCTAACTAAAACTCTGTACCCTCAGAATATCATCTCCCCACTTCCCCACCCTCCCCCTTCCCACTTTTATTCTTTCTGACTCCTGCTGTCATTGGAACCATCATGCGAGCTCTCATTTGCATGGGGAATTGTATGGGATACTATATAGAACAAACTAAAGATAGAATCTTTTGTTCTCTAGCTGTTTGTGCTCTAAAGCGGACAATTTCACGAACAAAGAAAAAGCCTAGCAGAAAATTCCACGCTAACAACGGAATACAAAGAAATACTACTCAAAGAAGGGCATGTTAAAAATTGTTATGTCAGGTGCTTCAACGAGCATGTCACAGTTACACAAATCAAACAGTACTTTATTAAATTATTTAGATAGAACAGGCACCAAATAAGACTTTGTAATAGCCTCTAAATCAGAGTGTGGGGTCACGGAAGGGAGATGCCTGGTGGAGAAGAAAGGGGTATAATTTAAAGTACAAGAAATAGGCTAGAAGTGGTGGTGGCTCACACCTATAATCTCAGCACTTTGGGAGGCTGAGGTGGAAGGATCACTTAGGGGCCAGGAGTTTGAGACCAGTGTCAGCAACAAAGGGAGACCCTGTCTCTGTAAAAAACCAAAAAATATTAGCCAGGCATGGTGGCACATGCCTGTGGCCTATGCCACTTGGGAGGCTGAGTAGGAAGGGTTACTGGAGCCTAGGACGTCGAGGCTGCAGTGAGATATGATCACACCACTGCACTCCAGCATGACTGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAGGCTGGGCGTAGTGGCTCACGCCTGTAATCCCATCACTTTGGGAGGCCGAGGCGGGTGGATCGTGAAGTCAGGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCAGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTAGGGAGGGTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCCCCACCGCACTCCAGGCTGGGCAACACAGTGAGACTCCGTCTTTAAAAAAAAAAAAAAAAAGAGAAAAGAAAAGAACAAATAGGAGCCCATGAAGGGAATTATCTCTTGGGATGGTAAACCAAAGGAAGGCAGGGCAGACAGGCCAGATGAGAGAATGGTGAGAGCAGCTCACAGCGCATTCCCGTGTGTCTGCCGCAGCAAAGCACACACAGCACAATGCTGTTCTAAGGCTCAATACACTTAATCCCTCAGGATCCTCGGGGCAGGTTCTGTGATTTCCTGAGCCAGGGCACTGACATCACAAGAGGGCGAGGGCCAACCAGCCCTGAGAAACAGGCACAGAGAGGTAACTTCCCCAAGTTCACATAAGTAGGATGCAGTAGAACTGGGAAGACAGAGGTCTAGAAACTGAAAGAGACAGGAGAAGGGAGAAAGAAAAATCAGAACTTGTATTAATGTGATTCAGACAGTGAAGAAATGGCAGTGTTCTTTCAGCCCAGGTAAGTGGAAAACTGGACAGGGAATATGCACCTGTGAACGCTGCACCTTGCGTGCCCAGAGTTCTGATTCAACTTCCTAATTTCTTCACTGCACAGCACAGCAAATGGGTTCAGGTACTTTTCCCCTAGGACAACAGAGCAGCCCCTGAATGTAACAAGCAGCATCCTGCTCATGCCCACGCCTACCTGGAGTCTGTGCCCCAGTGCATGGCGTAGATCTTGGCCAGGTGCCCCCGCAGTGTCCTCCTCGTGCGCATTTGGATTCTTCCCACTGGGTCGATGTTGTTTGTGATCTTGAAAATAAAAACATTTCTGTAAATCAACATCTGTGATTAAACGATTCTCCTCATCACCCATCCTTGTCAAGGCTGTTGGCTCGCCCACTGTGCCTACCTCTTCCCAGCCCTTCCCACAGTTCTCCAGTGGCTTCCACTGTGGCATTCTGCACTGAACCCCTTCCGTACCTCTTACCAAGTCTCAGTCTGGCTGGTCATCAGGAACCTGTGTGCCCTGCCCTCCAATGCACGCACACGAACATGGCCAGCCTTGAAGCACTTGCTGTTCCCTTCCTGCTTCCTTCCTCCTCTCCCTGTCCATCCAGGACCATCTCCTCCTAGGTCTCTGAGTTCTTTGAGATCTCGCAACTCTTCTTATGACACCACACAGATGTCCCACACCACAATTTAATAGCTGGTTCCTATGTCAGGCTATGTGTGGGCCTGCATGACACCTGCTTCTGCACGACCATCACTTGGAGCACCAGCTGTACACACACCTGCTGAGCCCATCCTACATATAGACACTGATGTTAATGAGTTTAGGTTGGCAAACGGAGTAAGTGGATTACAATAGTGGGTTTTAAAAACGGACAGTCCAAAGTGCTTCTCAGAATTGAAATTCAGGTAATTCTATGTAGCCTAATTTTTTTTTCTTTAACTTACAATTTAACCTCAATTAAAGCACATCCCCTAAAGCATTTAGACAATGTAAAAAACTTAATCATCTTCAGTAGAAGTAGGAATATAGTTTTTCTTTCACATTTCTGTCCAATTATTTGGACTTTATTTTTATTATCTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAACCTCTGCCTCCCGGGTCCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTAGTAGGGACAGGGTTTCACCATGTTGGTTAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGGACTTCATTTTTTTAATAAGGTGAAGTTCACGTAACATCCAATTAATCACTTTAAAGTCTACAGTTCAGTGGCATTTAGTACACTCATTGTTGTAAAACCACTGCCACCATCTAGTTCCAAACCATCTTCCAAAAGGAGACCAGACATTGATTCAGCAGTCACTCCCTGTTCACTTCCTCTCCCTCTCTCCCCTAACACCCCTGCTGGCCACTAGTCCACTCTGTCTCAGTGAATGTTACTATTCTAGATATTTCATATAAATAGAACTAAACAATACATAGCCATTTGTTTGGCTTCTCTCACTATCGTAATATTTATGGGGTTTATCCACGTTGCAGCCTCTGACTGTACTGACGTCCATTTAATGGCTGATAATACTCCAGGGCACAGAGACACCACAATTTGTTTCTCCACTCATTCATTTATGCACATTTTGGTTGTTTCTACATTTTGGCTATTGTGAATGGTGCTGCTATGTACATGTGTGTGTTTGAAAAGCAGTGTTCAATCCTGTTGGGCATATATTTAATGGCAGAACTGCTGAGTCATACAATAATTCTATGTTTAACTTTTTGAGGTATTATCAAATTGGATATTAGAAATAGAAGTTCTGAGGCAGATTCTGTTGAGGAGAGGAGCTTCAAAATATCTTAAGACAATAACAATATTTTACAACTATTACCCTCTGTAACAGGTAGATGATTATTCAAGGCTTGAGATATCTCATTTTTATCTCAATAAGCCCCTCTATTTCCTATGCCTACCATCAGAATGACTTCTTAATAAAAGCAGTGGCTTGGCATCCTCACTGCGCAACAGAGAATGCAAGCAGAGCCCTCCCGAGGCTCCAGGTGTGGGTGCCGTGCTAGCCTCCTCACAGGCAGATGGCTCTGCGTGACTCAGTGGGCTCTTACCTGAGAG
CCCAAAGTGCTGGGATGAGAGGCATGAGCCAATGTGCCTGGTTACTTATTTATTTTGAATATTTAAAAGAATTTTTGACAAGTAATTATATGTATATTTACGGAGTACAATGTGATATTCTGATATATATCCACATTGTGAAATAAATCAATCAAGCTAATCAACATACCCATCACTTCCAATTTGCTCTGTGGTGGGAACACTTAAGTCTACTTTACTAACAATTTTGAAACACACGTTATTATGAACTACTCTCCGTGCTGTGTGGCACATTTCTAAAATTTATTCCTAACTAAAACTCTGTACCCTCAGAATATCATCTCCCCACTTCCCCACCCTCCCCCTTCCCACTTTTATTCTTTCTGACTCCTGCTGTCATTGGAACCATCATGCGAGCTCTCATTTGCATGGGGAATTGTATGGGATACTATATAGAACAAACTAAAGATAGAATCTTTTGTTCTCTAGCTGTTTGTGCTCTAAAGCGGACAATTTCACGAACAAAGAAAAAGCCTAGCAGAAAATTCCACGCTAACAACGGAATACAAAGAAATACTACTCAAAGAAGGGCATGTTAAAAATTGTTATGTCAGGTGCTTCAACGAGCATGTCACAGTTACACAAATCAAACAGTACTTTATTAAATTATTTAGATAGAACAGGCACCAAATAAGACTTTGTAATAGCCTCTAAATCAGAGTGTGGGGTCACGGAAGGGAGATGCCTGGTGGAGAAGAAAGGGGTATAATTTAAAGTACAAGAAATAGGCTAGAAGTGGTGGTGGCTCACACCTATAATCTCAGCACTTTGGGAGGCTGAGGTGGAAGGATCACTTAGGGGCCAGGAGTTTGAGACCAGTGTCAGCAACAAAGGGAGACCCTGTCTCTGTAAAAAACCAAAAAATATTAGCCAGGCATGGTGGCACATGCCTGTGGCCTATGCCACTTGGGAGGCTGAGTAGGAAGGGTTACTGGAGCCTAGGACGTCGAGGCTGCAGTGAGATATGATCACACCACTGCACTCCAGCATGACTGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAGGCTGGGCGTAGTGGCTCACGCCTGTAATCCCATCACTTTGGGAGGCCGAGGCGGGTGGATCGTGAAGTCAGGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCAGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTAGGGAGGGTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCCCCACCGCACTCCAGGCTGGGCAACACAGTGAGACTCCGTCTTTAAAAAAAAAAAAAAAAAGAGAAAAGAAAAGAACAAATAGGAGCCCATGAAGGGAATTATCTCTTGGGATGGTAAACCAAAGGAAGGCAGGGCAGACAGGCCAGATGAGAGAATGGTGAGAGCAGCTCACAGCGCATTCCCGTGTGTCTGCCGCAGCAAAGCACACACAGCACAATGCTGTTCTAAGGCTCAATACACTTAATCCCTCAGGATCCTCGGGGCAGGTTCTGTGATTTCCTGAGCCAGGGCACTGACATCACAAGAGGGCGAGGGCCAACCAGCCCTGAGAAACAGGCACAGAGAGGTAACTTCCCCAAGTTCACATAAGTAGGATGCAGTAGAACTGGGAAGACAGAGGTCTAGAAACTGAAAGAGACAGGAGAAGGGAGAAAGAAAAATCAGAACTTGTATTAATGTGATTCAGACAGTGAAGAAATGGCAGTGTTCTTTCAGCCCAGGTAAGTGGAAAACTGGACAGGGAATATGCACCTGTGAACGCTGCACCTTGCGTGCCCAGAGTTCTGATTCAACTTCCTAATTTCTTCACTGCACAGCACAGCAAATGGGTTCAGGTACTTTTCCCCTAGGACAACAGAGCAGCCCCTGAATGTAACAAGCAGCATCCTGCTCATGCCCACGCCTACCTGGAGTCTGTGCCCCAGTGCATGGCGTAGATCTTGGCCACGTGCCCCCGCAGTGTCCTCCTCGTGCGCATTTGGATTCTTCCCACTGGGTCGATGTTGTTTGTGATCTTGAAAATAAAAACATTTCTGTAAATCAACATCTGTGATTAAACGATTCTCCTCATCACCCATCCTTGTCAAGGCTGTTGGCTCGCCCACTGTGCCTACCTCTTCCCAGCCCTTCCCACAGTTCTCCAGTGGCTTCCACTGTGGCATTCTGCACTGAACCCCTTCCGTACCTCTTACCAAGTCTCAGTCTGGCTGGTCATCAGGAACCTGTGTGCCCTGCCCTCCAATGCACGCACACGAACATGGCCAGCCTTGAAGCACTTGCTGTTCCCTTCCTGCTTCCTTCCTCCTCTCCCTGTCCATCCAGGACCATCTCCTCCTAGGTCTCTGAGTTCTTTGAGATCTCGCAACTCTTCTTATGACACCACACAGATGTCCCACACCACAATTTAATAGCTGGTTCCTATGTCAGGCTATGTGTGGGCCTGCATGACACCTGCTTCTGCACGACCATCACTTGGAGCACCAGCTGTACACACACCTGCTGAGCCCATCCTACATATAGACACTGATGTTAATGAGTTTAGGTTGGCAAACGGAGTAAGTGGATTACAATAGTGGGTTTTAAAAACGGACAGTCCAAAGTGCTTCTCAGAATTGAAATTCAGGTAATTCTATGTAGCCTAATTTTTTTTTCTTTAACTTACAATTTAACCTCAATTAAAGCACATCCCCTAAAGCATTTAGACAATGTAAAAAACTTAATCATCTTCAGTAGAAGTAGGAATATAGTTTTTCTTTCACATTTCTGTCCAATTATTTGGACTTTATTTTTATTATCTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAACCTCTGCCTCCCGGGTCCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTAGTAGGGACAGGGTTTCACCATGTTGGTTAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGGACTTCATTTTTTTAATAAGGTGAAGTTCACGTAACATCCAATTAATCACTTTAAAGTCTACAGTTCAGTGGCATTTAGTACACTCATTGTTGTAAAACCACTGCCACCATCTAGTTCCAAACCATCTTCCAAAAGGAGACCAGACATTGATTCAGCAGTCACTCCCTGTTCACTTCCTCTCCCTCTCTCCCCTAACACCCCTGCTGGCCACTAGTCCACTCTGTCTCAGTGAATGTTACTATTCTAGATATTTCATATAAATAGAACTAAACAATACATAGCCATTTGTTTGGCTTCTCTCACTATCGTAATATTTATGGGGTTTATCCACGTTGCAGCCTCTGACTGTACTGACGTCCATTTAATGGCTGATAATACTCCAGGGCACAGAGACACCACAATTTGTTTCTCCACTCATTCATTTATGCACATTTTGGTTGTTTCTACATTTTGGCTATTGTGAATGGTGCTGCTATGTACATGTGTGTGTTTGAAAAGCAGTGTTCAATCCTGTTGGGCATATATTTAATGGCAGAACTGCTGAGTCATACAATAATTCTATGTTTAACTTTTTGAGGTATTATCAAATTGGATATTAGAAATAGAAGTTCTGAGGCAGATTCTGTTGAGGAGAGGAGCTTCAAAATATCTTAAGACAATAACAATATTTTACAACTATTACCCTCTGTAACAGGTAGATGATTATTCAAGGCTTGAGATATCTCATTTTTATCTCAATAAGCCCCTCTATTTCCTATGCCTACCATCAGAATGACTTCTTAATAAAAGCAGTGGCTTGGCATCCTCACTGCGCAACAGAGAATGCAAGCAGAGCCCTCCCGAGGCTCCAGGTGTGGGTGCCGTGCTAGCCTCCTCACAGGCAGATGGCTCTGCGTGACTCAGTGGGCTCTTACCTGAGAG
Task1_train_48
Given a variant located on Chromosome 1 and affecting CFAP74 (cilia and flagella associated protein 74), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Ciliary dyskinesia, primary, 49, without situs inversus
GCCTCCCCACAGGTGTCCTGCAGGATGGCCCCACTCTAGGAGGCCCTTGCCAGGCAAAGCGGGTGTCATGGCTGTGAGGGGAGGGGCTGCTTCCCCAGGGCTCTGTCCCCACCTCCCATTCTGTGCTCACCCCAGGGAATAACCTGCTGTCACCCACACTGCAGGCTGCATGTGTTGGCCTACAAAAAATTTATTGACAGGCTGTGGAGGGCTCTCCTGGGGGCTGGGGGCTCTGAGGGGGTCTGGCTAGGATGGCTGAGGGCTGGCCTGGCCTTCTCGCTGCTTCTGAGTCTGGGGTCTCAGGAGGGGTGCTCTTGGATGTCCCTGGGCTTGCGGGGTCCAGGGCAGCAGGAAGTGGCCGTGGCGCCATGTGGAGGGCGGCCTATTGGAATCTGGCAGAGGATGGCCAGGTCCCAGGCTCTAGGGTAGTATGACCTGGCCCTCAGCCTGGGGAGGGCTTTGAGGGTGGACAGGAGGGCCCGAGGGTGCTCTGTGCAGAGGCTTAGGGGCCAGTCAACACCTGGGCTACAAAGATGACCTTGTAGGTCTCCTTCACATCCCCCCTTAGCTGCAGCAGGGCCGACACCATGAGTGGGTGGTCTGGCTGGAACAGGAGGGGAGGGGAGAAGAGGCCTTCAGTCAGTGGGCACCCAGAGGAGATCTGCTGTCTTCCCACTGCCCTGCCCACCTGACTCCCTTGGGTCCTCCACGGCCACCTCCTCCCCTGGGACTGGGCAGGGGTGTCAGCCCACCCAGCCTTTGGCGTTCCCAGGGCTCCCTGGCCTGGAGCCCAAAGGCACCTACATCAAAGTCCGCAGGTGGCACCCAGGAGATGCTGATGGTCTTCGTCTGGCCGCGCTCCACGGAGCCCCTGGAGGGCTCAATAGAGAAACCCTTGTGCTGCAGGGATGCGACGCTGTCTATGCTGAACTCAACGGTCTGTGGGGTATGGGGCTCCTGTAGGCTGGCGACCAGGCACCGCTCCCAGAAGCAGTGGGACTAGGGGTGAGGGTGCCCAGCTCCACTCACCCTCCCAGCTCTGACCAGGCTGCCCACCCCACAGCTGCCACAGGAAGTCCGAGAAAAGCCCGGCTGTCAGGACAAGCCCAGTGAGGGGCAAGGCCAGGAGGGTCAGGGCTGCCCAGGGCAGGGGAGGCCGAGGGGGCTGCCTGGTGTCCCCAGGGGCAGTGCTGTGGGCACCTTCTTTGGAGATGGCTGGGTGGTCCGGATACAGCCCACCTGCAGCTCTCGGGTGGCAGGTGGGGCTGGCGTGTCTGTGTCAAACTGGATGTAGTCCAGGGTCACCAGGATGGGCCTCAGCTCCTCAGCTTCTGGAGAGAGAGGGCCTGGCCGGGAGCTGGCTGGAGGGGTGTGGCCAGGGGAGCTGTTCAGGGTCAGGCTGAGGCATGGGGTGAGGCTGCAGCTGGACTCCTGAACTCTGGTTAGCAGTGGCTGTCCTGCTTGGCTCTGGGGTAGAAGGCTGGGAATCCCTGCCCTGCTCCGCTGGGTCTCGGGGCCCCCATCCACGGGACAGGGGCACCGGGAGGCCCCGTGTCTGTTCCCTCCCTGGGGAGGGGCTCACCCTCTCTGTGCCTGGGGTCAAATACAGGGATCGCTGTCAGAGACTCCACGGGCACGTCCAGGGGGTCGCCGCCCTCCACGAACATCATGTGCTGACAGGCGGCACCCTTCAGCAGGATCTGGTGGGAGATTTTCTGGGGACAAGAAGTGGAGTGGCCTTGTCCCCGAAGCTCGGCGGCAGGGGTCCTGCTGGTGAGAGCTGGGCTGGCTCAGGGAAGGAAGCAGGGACGGCCTGGGGGCCCCGTGGGGCCCTGGACTCTGGTCTTTCCACTGACGGCCCTCAGTGTGGTGCTGAGTCCCCCAGCCATGGTACCCTCAGGGCCTCCAAAGTGGAGCAGTGCAGCCAAAGGCAAGGCCCTGCGTGGGGCCAGGGCCGGGCCGGGCTGAGCTTGCAGAGCCAGAGCCGCACCTTTTCAAAGAGCACCACCTGGAGCTTGTCGGAGAAGTAGAGGCTTTCGTGGTCGGGGCTGAAGGTGACAGTGAAGTCTTGTGTCTTCCCGGGGTCCATGACGCCCTTGACGGGGGCCACGCTGAACACGCTCTGACCGTTGAGATTCTGCGTCCCTGCGGGTAGGGTGGGGTGCAGTTTGGCCTTCTCCACCTGCAATCACTGTCTGCCCTCCAAGCCTTGCTGCATAGAGCTCTACACCCTGCCCGCCCCCCTGCAGAGCCCCTGTCCTGCCCGGTCCCCCCAATGGCCTTGCGCCCCCCACTCCTCCCATGGATCCAAGCGCCCACCCCCCCCATCTCACCAACCGCCCCCTCCAGCTCACTGCCCACCCCCCCAGCTCACCGCCCACCCCCCACCTCACCAACTGCCCCCCACCCAGCTCACCGCCCGTGCCCGCCAGCTCACCGACCACCCCCCTCCAGCTCACCACCCGCCCCTGCCAGTTCACCGCCCGCAGCCCATCTCATTGCCCAGCCCCCTATCTCACCAACTGTCCCCCTCCAGGCCACTGCCTACTCCCCCAGCTCACCGCCCACCCCCGCAGCTCACCACCCACCCCCCACCCCCCGCTCACCGACCACCTCCGTCCTCTGGGAGGGCGAGCTGAGGAACTGCGGCAGCTGCTGCTGGCCCCGGCCCCGGGTGCTGGAGAGGCTGTCCAGGTGCATGGAGAACTTGATGGGGAGCAGAGAGTTGTTCTGCAGCTGCAGAGAGCAGGCCGCGGTCACTGCCCGCCAGCCCCTGCCTGGCTGCCCCCTTCCTGTCGTCGGTGCCCAGGACTTGGCTGGTGCTATGAGGCCACACCCAAGTGGGGACCCGGGTGGCCTGATGACGCCAGCACACGTGGCGGTTTATTGAGCTGTGTGCCAACATCCCTTCTTCCAGCCTCTCATCAGCCTTTGCTAGGCCGGGGCTCGGCTTCCCTGCCTAGGGTGCGTGGACAGCTCTGGGGTGTCACCTGTCCTCCAGGGCGCCTGAGTCTCGCTCAGGCCCAGCTTAGCTGAACCCACGTCCCCACCTGTGTCCTCCCTGCCCTCACCCCCTCTCCTTAGAGCACCCTTTCTCCATGCAACGCCCGTCTCGGGCTCTGCCTCCAGGACCCGCCCTGAGCCAGGCGGAGAAGCAGGTGTCCCTCCCGGACCCACACTCGTGCGAAGGCATGAGGGCACACGCTGGTGCGAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGGGCACACACTGGTCCAAAGGCATGAGGGCACACACTGGTGCGGAGGCATGAGGGCACACACTGGTGCGAAGGCATGAGGGCACACGCTGGTGCGAAGGCATGAGGGCACGCAGGGCAGGGCGAAGGCATGAGGGCACGCAGGGCAGGGCGAAGGCATGAGGGCACATGGGGCAGCGTGAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGGGCACACAGGGCAGCGCGAAGGCACGAGGGCACACGCTGGTGCAAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGAGCACACAGGGCAGTGCGAGGCATGAGAGCACGCAGGGCAGTGCGGCTCACTGCAGAGGGCTGCAAACCCTTGCCCCCGGTGGCTGAGCTGAGCTCCAAAGGAGTGAGTTCAAGCAGCAGGGCAGGGGGTGGGTGGTGGGTGGGGGAGCTCTGTGCAGGGGCTGAGGAGGAGGGACAAAGAGCGCCAAGGAGGACAGGGAGGTGGGGAGGACTAGGGGACATCTGCAGCCTCCCCAGAAACAGGCCCCGGGTTCCCTGCAGGAGAGGGCGGCAGAGGCGGCAGCTGTGTAGAGGAGGGGTAGAGGGGGCCACCTGTGTCCCCACGGGCTCTCCGACCCACGGGTCACTTTTGACAGCTGGCCTGAGTCCTGCCTGGTGGAAACCCCTCCTGGGAGGCTGGAGCCAGCACCAGGGCCCACGTGTGCTTCACCTTGAAGCCTGAGGACACAGACTCTCCGGCAATCACATAGCCCATGTTGAGGACGCTGCCTTCAATGGAGCACGTGATCATGGACGCCACGCCAGTGC
GCCTCCCCACAGGTGTCCTGCAGGATGGCCCCACTCTAGGAGGCCCTTGCCAGGCAAAGCGGGTGTCATGGCTGTGAGGGGAGGGGCTGCTTCCCCAGGGCTCTGTCCCCACCTCCCATTCTGTGCTCACCCCAGGGAATAACCTGCTGTCACCCACACTGCAGGCTGCATGTGTTGGCCTACAAAAAATTTATTGACAGGCTGTGGAGGGCTCTCCTGGGGGCTGGGGGCTCTGAGGGGGTCTGGCTAGGATGGCTGAGGGCTGGCCTGGCCTTCTCGCTGCTTCTGAGTCTGGGGTCTCAGGAGGGGTGCTCTTGGATGTCCCTGGGCTTGCGGGGTCCAGGGCAGCAGGAAGTGGCCGTGGCGCCATGTGGAGGGCGGCCTATTGGAATCTGGCAGAGGATGGCCAGGTCCCAGGCTCTAGGGTAGTATGACCTGGCCCTCAGCCTGGGGAGGGCTTTGAGGGTGGACAGGAGGGCCCGAGGGTGCTCTGTGCAGAGGCTTAGGGGCCAGTCAACACCTGGGCTACAAAGATGACCTTGTAGGTCTCCTTCACATCCCCCCTTAGCTGCAGCAGGGCCGACACCATGAGTGGGTGGTCTGGCTGGAACAGGAGGGGAGGGGAGAAGAGGCCTTCAGTCAGTGGGCACCCAGAGGAGATCTGCTGTCTTCCCACTGCCCTGCCCACCTGACTCCCTTGGGTCCTCCACGGCCACCTCCTCCCCTGGGACTGGGCAGGGGTGTCAGCCCACCCAGCCTTTGGCGTTCCCAGGGCTCCCTGGCCTGGAGCCCAAAGGCACCTACATCAAAGTCCGCAGGTGGCACCCAGGAGATGCTGATGGTCTTCGTCTGGCCGCGCTCCACGGAGCCCCTGGAGGGCTCAATAGAGAAACCCTTGTGCTGCAGGGATGCGACGCTGTCTATGCTGAACTCAACGGTCTGTGGGGTATGGGGCTCCTGTAGGCTGGCGACCAGGCACCGCTCCCAGAAGCAGTGGGACTAGGGGTGAGGGTGCCCAGCTCCACTCACCCTCCCAGCTCTGACCAGGCTGCCCACCCCACAGCTGCCACAGGAAGTCCGAGAAAAGCCCGGCTGTCAGGACAAGCCCAGTGAGGGGCAAGGCCAGGAGGGTCAGGGCTGCCCAGGGCAGGGGAGGCCGAGGGGGCTGCCTGGTGTCCCCAGGGGCAGTGCTGTGGGCACCTTCTTTGGAGATGGCTGGGTGGTCCGGATACAGCCCACCTGCAGCTCTCGGGTGGCAGGTGGGGCTGGCGTGTCTGTGTCAAACTGGATGTAGTCCAGGGTCACCAGGATGGGCCTCAGCTCCTCAGCTTCTGGAGAGAGAGGGCCTGGCCGGGAGCTGGCTGGAGGGGTGTGGCCAGGGGAGCTGTTCAGGGTCAGGCTGAGGCATGGGGTGAGGCTGCAGCTGGACTCCTGAACTCTGGTTAGCAGTGGCTGTCCTGCTTGGCTCTGGGGTAGAAGGCTGGGAATCCCTGCCCTGCTCCGCTGGGTCTCGGGGCCCCCATCCACGGGACAGGGGCACCGGGAGGCCCCGTGTCTGTTCCCTCCCTGGGGAGGGGCTCACCCTCTCTGTGCCTGGGGTCAAATACAGGGATCGCTGTCAGAGACTCCACGGGCACGTCCAGGGGGTCGCCGCCCTCCACGAACATCATGTGCTGACAGGCGGCACCCTTCAGCAGGATCTGGTGGGAGATTTTCTGGGGACAAGAAGTGGAGTGGCCTTGTCCCCGAAGCTCGGCGGCAGGGGTCCTGCTGGTGAGAGCTGGGCTGGCTCAGGGAAGGAAGCAGGGACGGCCTGGGGGCCCCGTGGGGCCCTGGACTCTGGTCTTTCCACTGACGGCCCTCAGTGTGGTGCTGAGTCCCCCAGCCATGGTACCCTCAGGGCCTCCAAAGTGGAGCAGTGCAGCCAAAGGCAAGGCCCTGCGTGGGGCCAGGGCCGGGCCGGGCTGAGCTTGCAGAGCCAGAGCCGCACCTTTTCAAAGAGCACCACCTGGAGCTTGTCGGAGAAGTAGAGGCTTTCGTGGTCGGGGGTGAAGGTGACAGTGAAGTCTTGTGTCTTCCCGGGGTCCATGACGCCCTTGACGGGGGCCACGCTGAACACGCTCTGACCGTTGAGATTCTGCGTCCCTGCGGGTAGGGTGGGGTGCAGTTTGGCCTTCTCCACCTGCAATCACTGTCTGCCCTCCAAGCCTTGCTGCATAGAGCTCTACACCCTGCCCGCCCCCCTGCAGAGCCCCTGTCCTGCCCGGTCCCCCCAATGGCCTTGCGCCCCCCACTCCTCCCATGGATCCAAGCGCCCACCCCCCCCATCTCACCAACCGCCCCCTCCAGCTCACTGCCCACCCCCCCAGCTCACCGCCCACCCCCCACCTCACCAACTGCCCCCCACCCAGCTCACCGCCCGTGCCCGCCAGCTCACCGACCACCCCCCTCCAGCTCACCACCCGCCCCTGCCAGTTCACCGCCCGCAGCCCATCTCATTGCCCAGCCCCCTATCTCACCAACTGTCCCCCTCCAGGCCACTGCCTACTCCCCCAGCTCACCGCCCACCCCCGCAGCTCACCACCCACCCCCCACCCCCCGCTCACCGACCACCTCCGTCCTCTGGGAGGGCGAGCTGAGGAACTGCGGCAGCTGCTGCTGGCCCCGGCCCCGGGTGCTGGAGAGGCTGTCCAGGTGCATGGAGAACTTGATGGGGAGCAGAGAGTTGTTCTGCAGCTGCAGAGAGCAGGCCGCGGTCACTGCCCGCCAGCCCCTGCCTGGCTGCCCCCTTCCTGTCGTCGGTGCCCAGGACTTGGCTGGTGCTATGAGGCCACACCCAAGTGGGGACCCGGGTGGCCTGATGACGCCAGCACACGTGGCGGTTTATTGAGCTGTGTGCCAACATCCCTTCTTCCAGCCTCTCATCAGCCTTTGCTAGGCCGGGGCTCGGCTTCCCTGCCTAGGGTGCGTGGACAGCTCTGGGGTGTCACCTGTCCTCCAGGGCGCCTGAGTCTCGCTCAGGCCCAGCTTAGCTGAACCCACGTCCCCACCTGTGTCCTCCCTGCCCTCACCCCCTCTCCTTAGAGCACCCTTTCTCCATGCAACGCCCGTCTCGGGCTCTGCCTCCAGGACCCGCCCTGAGCCAGGCGGAGAAGCAGGTGTCCCTCCCGGACCCACACTCGTGCGAAGGCATGAGGGCACACGCTGGTGCGAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGGGCACACACTGGTCCAAAGGCATGAGGGCACACACTGGTGCGGAGGCATGAGGGCACACACTGGTGCGAAGGCATGAGGGCACACGCTGGTGCGAAGGCATGAGGGCACGCAGGGCAGGGCGAAGGCATGAGGGCACGCAGGGCAGGGCGAAGGCATGAGGGCACATGGGGCAGCGTGAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGGGCACACAGGGCAGCGCGAAGGCACGAGGGCACACGCTGGTGCAAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGAGCACACAGGGCAGTGCGAGGCATGAGAGCACGCAGGGCAGTGCGGCTCACTGCAGAGGGCTGCAAACCCTTGCCCCCGGTGGCTGAGCTGAGCTCCAAAGGAGTGAGTTCAAGCAGCAGGGCAGGGGGTGGGTGGTGGGTGGGGGAGCTCTGTGCAGGGGCTGAGGAGGAGGGACAAAGAGCGCCAAGGAGGACAGGGAGGTGGGGAGGACTAGGGGACATCTGCAGCCTCCCCAGAAACAGGCCCCGGGTTCCCTGCAGGAGAGGGCGGCAGAGGCGGCAGCTGTGTAGAGGAGGGGTAGAGGGGGCCACCTGTGTCCCCACGGGCTCTCCGACCCACGGGTCACTTTTGACAGCTGGCCTGAGTCCTGCCTGGTGGAAACCCCTCCTGGGAGGCTGGAGCCAGCACCAGGGCCCACGTGTGCTTCACCTTGAAGCCTGAGGACACAGACTCTCCGGCAATCACATAGCCCATGTTGAGGACGCTGCCTTCAATGGAGCACGTGATCATGGACGCCACGCCAGTGC
Task1_train_49
This variant impacts the gene CFAP74 (cilia and flagella associated protein 74) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
Pathogenic; Ciliary dyskinesia, primary, 49, without situs inversus
ATGAGGGCACACGCTGGTGCGAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGGGCACACACTGGTCCAAAGGCATGAGGGCACACACTGGTGCGGAGGCATGAGGGCACACACTGGTGCGAAGGCATGAGGGCACACGCTGGTGCGAAGGCATGAGGGCACGCAGGGCAGGGCGAAGGCATGAGGGCACGCAGGGCAGGGCGAAGGCATGAGGGCACATGGGGCAGCGTGAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGGGCACACAGGGCAGCGCGAAGGCACGAGGGCACACGCTGGTGCAAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGAGCACACAGGGCAGTGCGAGGCATGAGAGCACGCAGGGCAGTGCGGCTCACTGCAGAGGGCTGCAAACCCTTGCCCCCGGTGGCTGAGCTGAGCTCCAAAGGAGTGAGTTCAAGCAGCAGGGCAGGGGGTGGGTGGTGGGTGGGGGAGCTCTGTGCAGGGGCTGAGGAGGAGGGACAAAGAGCGCCAAGGAGGACAGGGAGGTGGGGAGGACTAGGGGACATCTGCAGCCTCCCCAGAAACAGGCCCCGGGTTCCCTGCAGGAGAGGGCGGCAGAGGCGGCAGCTGTGTAGAGGAGGGGTAGAGGGGGCCACCTGTGTCCCCACGGGCTCTCCGACCCACGGGTCACTTTTGACAGCTGGCCTGAGTCCTGCCTGGTGGAAACCCCTCCTGGGAGGCTGGAGCCAGCACCAGGGCCCACGTGTGCTTCACCTTGAAGCCTGAGGACACAGACTCTCCGGCAATCACATAGCCCATGTTGAGGACGCTGCCTTCAATGGAGCACGTGATCATGGACGCCACGCCAGTGCCCATGAGGGTGAGGGTGAGCGTGCCTCTCTTGGTGATGATGTCCAGTGTTTCTTGAGCCTAAAGAGACCACATCGCTCAGCCAGGAACCGATGTCTGCTGGAGCCACGAGGGGAGCTCTGCCTCAGGGGCAGTGGGTTCTCAACGCTGGAGTTGAGACAGCTCTGGGGGGGCTCTGTCAGCTCCGCTCACTTGGCGGCTGGTGTGAGGGCCTGGGGGCCAGGCTGCTCGCAGACCCAGGCTTAGTCCCAGGCCTGAGCACAGGTGATGCCCGCCCCGGCCAGTGCCTTTGTTCTGCAGTGTGGGGAGCCTTGGGCCGCAGTGTGGCCAGGGTGGGCCTGGGACTCACCAGGATGCTCTCGTGGGGAGAGAAGGAAAGCACCAGGACCTGGGTCCCACCTGCACGCAGCAGGCTGGAGTGGTTCAGCAGGACAAAGGGGCCGTTGGGGTTCAGCAGGGAGAAGTCCAGCTGAGGGTCCACGTCAAGGAGGGGATACAGGTGTCTGCAGGCTCTACCACGCCCTCCCCGGTCCCCGCTCCCACCCCGCAGGCCGCCTGAGCTGGGTGGACAAGGACACGGCCAGATCCTCGGGAGAGACGTTCTGGATGGAGATCTTCTTGATACTGCGGTGCCCTGAAATGGGGCAGGGAGCGTCAGGCCCCAGCCCCAGGCCCCAGGGAGCGTCTCTGCCAGGGGTGGGCCGTGGGGCTGGGGGAGGCGTGGGTGTGCCTGGGCACCGGGGTGGAGGTGTGGGCGGGGCTTAGCGTCTCACCCACAGCGACGTCGCCGAAGTTAAAGATGGTCTTGCCTTTATGGGACGTCACCACAACAGATGGTGCCACCGTCGGGCACCACAGCTCCAGGTACAGGGTGTTGTGGGGGCTGGGATAGGAAGGGCATGCTGAGGGCAGGGTGGGCGGCCCCCTGCCCGCCCAGGCCCCAGAGTTGGGCAGTAGCAGAGGGACAGCGCGTTTGCGGCTGACCACACCCTGTTCTGGCCAGAGCACCCCGCACCTGAAGCTCAGGGGTTCTGACCCCTTCCTGTCTTTGATGTCGCCACTGGCAACAACACAGGGAACTACAAATGTGTCAAACTTCGCCTGGAACGCTCTGAGCAGGGTGGCTCGGGCGGCCTGGTACTCGTCGGAACTAGAAGGAAGTCAGAGGCTTGCGCTCCCGCCTTGCCCCCACCCACCATCGGCCCAGGCCGGACCCCTGCGGCTCTGCCTCAGGGTCCCAGGGTCCCAGGGTCCCAAGCTGTGGCTGTCCCAGTTGTGTCTGACAAACTGGCTTTTCCACCCTTCTCTGGCTCCTGTGGGGGTCTCATCACTCACTTCAGGTCCTCGTCAGCTGGTGGCTGGAGGCTAGGGGTTGGGGCAGGTGCCTTTGGCCCCTGGCTAGAGAGCCATGTTCCTTCCCGGGGCCACAGGCACCCATTAGAGCTTTCCCAGGGCTCATTCTGCACCCGGGGGGCTGGGTGGGGGGTGGTGGCTTTGCTCCCCACCCGTGGATTGAGGCTGTGTGCAGGGGTGTCAGGCCTGGGGAAATGGGGTGGGTAGGTCCCAGGAAGGCAGCACCTGGATCCAGCTGTGTCTGAAGGCATCAGTCCTTCCAGCCACATGGGTCATTCCGGGCAATCTGTAGGGAGGGGACTCTACAGGGGCCACAGTGGGTCCCACCAGAGGGGCCTGGAGGGAAGCAGGTGGGGCAGCCCCTCCTGGACCCACCTGGGCCTCAGCTCCCGCTTCCGCATCTCCAGGACGTGGGGGACAGAGACTTTGAACAGCTTGTCGCGGTTCTGTGCTCGAAGAACGGAGAATGACAGTCCATGCAGGTCCTTCCTCTGGGGGGCCATATTCTTTCGGAACTGTGGGGGGAGCGACTGGCTGTGGGGCTGTGCAGGGCCCTAAACACAGCCAGCTGTGCCCCGTGGCTCCTCTGCGGCCAGTGCGGGAACCGCGGGAGCCGCAGTTGGGATTGAATGTGGGGACGCAAAAGCCGACCGGCGCCCGAGGAAGACAGTAGCCAGTGCGGAGGGGCACACAGACCCCCACAGAGCTGCTCACAGACTGTGGCGTCTGCTTCACCAGAGGATAAACCGAGGCACGGAGTGAGGAGGCGGCCAGAACCGGGGTCCCCACCCTGGTGCCTTCCCCTATCTTCACCGCGGAAGGCCGAAGGCAAGTGCTTCCCCTCGAGTGCACGCCCAGGAGGAACCCAGGCCGGGAAAGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCGTGGGAGGAAGCCAGGCTGGGAAGGGTGCATCTGGAGTGTGGCAGGAGCCTCGAGGCCACCTCCAGGGCCGGCACTTGTGGGGCAGATTCTGCAGGACACTCCGTGTTTCAGGTGCGCCTCCCGGGGCCTCCAGGTTGTTGGAGGGGCCCTTCATTGCATCCGCTGCACCCCTGGGTCACAGCCCCTACTGCCCCCACCTCCAGAGCCCACCCTTCCCTGCTCCCGCCTGGCAGTGCCTTCCAGAGAGAAGGGAGGGTCTTGGTGAGCAAGCTTTTTAACCTCAGATACAGCTCGACACGTGCATTGCTTGGGAAAGGTCTACCCTGTGCTCCCGGCACGTGGCCGGAGCCCCCCAGGACTCGAAGGCGGTGGAGTTTGTTCCTGCAACAGGCCCTTCCCCGACCTACGCCCCTCCTTCCCGGGCCCCACGCACAGATTTGGTCTCCATTTCTTTGTTCAGGAGTGGGAGGGCTTCCTGGCGGATCAGCTTCTCGGGCAGCACTGGCCGGAAGGCCACCTGGACCAGGCACCTCTGAGGAGAGACCAGCGTGGGCACAGGGGTTGCCACTTCCCTCCACCTCCCCGGAGCCCCTGCGGGCACTCTACCGTCCTCTGCCCGTGGACTCCCCTCAAGGTCACCTCCCCCTTGAGATTTCAGGCTGCGTGCCCCTTCAGGAAGCCCCTCCCTGACCTCTGTCCCCCAGGAGGCTGGGCGGGCTGC
ATGAGGGCACACGCTGGTGCGAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGGGCACACACTGGTCCAAAGGCATGAGGGCACACACTGGTGCGGAGGCATGAGGGCACACACTGGTGCGAAGGCATGAGGGCACACGCTGGTGCGAAGGCATGAGGGCACGCAGGGCAGGGCGAAGGCATGAGGGCACGCAGGGCAGGGCGAAGGCATGAGGGCACATGGGGCAGCGTGAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGGGCACACAGGGCAGCGCGAAGGCACGAGGGCACACGCTGGTGCAAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGGGCACACGCTGGTGTGAAGGCATGAGAGCACACAGGGCAGTGCGAGGCATGAGAGCACGCAGGGCAGTGCGGCTCACTGCAGAGGGCTGCAAACCCTTGCCCCCGGTGGCTGAGCTGAGCTCCAAAGGAGTGAGTTCAAGCAGCAGGGCAGGGGGTGGGTGGTGGGTGGGGGAGCTCTGTGCAGGGGCTGAGGAGGAGGGACAAAGAGCGCCAAGGAGGACAGGGAGGTGGGGAGGACTAGGGGACATCTGCAGCCTCCCCAGAAACAGGCCCCGGGTTCCCTGCAGGAGAGGGCGGCAGAGGCGGCAGCTGTGTAGAGGAGGGGTAGAGGGGGCCACCTGTGTCCCCACGGGCTCTCCGACCCACGGGTCACTTTTGACAGCTGGCCTGAGTCCTGCCTGGTGGAAACCCCTCCTGGGAGGCTGGAGCCAGCACCAGGGCCCACGTGTGCTTCACCTTGAAGCCTGAGGACACAGACTCTCCGGCAATCACATAGCCCATGTTGAGGACGCTGCCTTCAATGGAGCACGTGATCATGGACGCCACGCCAGTGCCCATGAGGGTGAGGGTGAGCGTGCCTCTCTTGGTGATGATGTCCAGTGTTTCTTGAGCCTAAAGAGACCACATCGCTCAGCCAGGAACCGATGTCTGCTGGAGCCACGAGGGGAGCTCTGCCTCAGGGGCAGTGGGTTCTCAACGCTGGAGTTGAGACAGCTCTGGGGGGGCTCTGTCAGCTCCGCTCACTTGGCGGCTGGTGTGAGGGCCTGGGGGCCAGGCTGCTCGCAGACCCAGGCTTAGTCCCAGGCCTGAGCACAGGTGATGCCCGCCCCGGCCAGTGCCTTTGTTCTGCAGTGTGGGGAGCCTTGGGCCGCAGTGTGGCCAGGGTGGGCCTGGGACTCACCAGGATGCTCTCGTGGGGAGAGAAGGAAAGCACCAGGACCTGGGTCCCACCTGCACGCAGCAGGCTGGAGTGGTTCAGCAGGACAAAGGGGCCGTTGGGGTTCAGCAGGGAGAAGTCCAGCTGAGGGTCCACGTCAAGGAGGGGATACAGGTGTCTGCAGGCTCTACCACGCCCTCCCCGGTCCCCGCTCCCACCCCGCAGGCCGCCTGAGCTGGGTGGACAAGGACACGGCCAGATCCTCGGGAGAGACGTTCTGGATGGAGATCTTCTTGATACTGCGGTGCCCTGAAATGGGGCAGGGAGCGTCAGGCCCCAGCCCCAGGCCCCAGGGAGCGTCTCTGCCAGGGGTGGGCCGTGGGGCTGGGGGAGGCGTGGGTGTGCCTGGGCACCGGGGTGGAGGTGTGGGCGGGGCTTAGCGTCTCACCCACAGCGACGTCGCCGAAGTTAAAGATGGTCTTGCCTTTATGGGACGTCACCACAACAGATGGTGCCACCGTCGGGCACCACAGCTCCAGGTACAGGGTGTTGTGGGGGCTGGGATAGGAAGGGCATGCTGAGGGCAGGGTGGGCGGCCCCCTGCCCGCCCAGGCCCCAGAGTTGGGCAGTAGCAGAGGGACAGCGCGTTTGCGGCTGACCACACCCTGTTCTGGCCAGAGCACCCCGCACCTGAAGCTCAGGGGTTCTGACCCCTTCCTGTCTTTGATGTCGCCACTGGCAACAACACAGGGAACTACAAATGTGTCAAACTTCGCCTGGAACGCTCTGAGCAGGGTGGCTCGGGCGGCCTGGTACTCGTTGGAACTAGAAGGAAGTCAGAGGCTTGCGCTCCCGCCTTGCCCCCACCCACCATCGGCCCAGGCCGGACCCCTGCGGCTCTGCCTCAGGGTCCCAGGGTCCCAGGGTCCCAAGCTGTGGCTGTCCCAGTTGTGTCTGACAAACTGGCTTTTCCACCCTTCTCTGGCTCCTGTGGGGGTCTCATCACTCACTTCAGGTCCTCGTCAGCTGGTGGCTGGAGGCTAGGGGTTGGGGCAGGTGCCTTTGGCCCCTGGCTAGAGAGCCATGTTCCTTCCCGGGGCCACAGGCACCCATTAGAGCTTTCCCAGGGCTCATTCTGCACCCGGGGGGCTGGGTGGGGGGTGGTGGCTTTGCTCCCCACCCGTGGATTGAGGCTGTGTGCAGGGGTGTCAGGCCTGGGGAAATGGGGTGGGTAGGTCCCAGGAAGGCAGCACCTGGATCCAGCTGTGTCTGAAGGCATCAGTCCTTCCAGCCACATGGGTCATTCCGGGCAATCTGTAGGGAGGGGACTCTACAGGGGCCACAGTGGGTCCCACCAGAGGGGCCTGGAGGGAAGCAGGTGGGGCAGCCCCTCCTGGACCCACCTGGGCCTCAGCTCCCGCTTCCGCATCTCCAGGACGTGGGGGACAGAGACTTTGAACAGCTTGTCGCGGTTCTGTGCTCGAAGAACGGAGAATGACAGTCCATGCAGGTCCTTCCTCTGGGGGGCCATATTCTTTCGGAACTGTGGGGGGAGCGACTGGCTGTGGGGCTGTGCAGGGCCCTAAACACAGCCAGCTGTGCCCCGTGGCTCCTCTGCGGCCAGTGCGGGAACCGCGGGAGCCGCAGTTGGGATTGAATGTGGGGACGCAAAAGCCGACCGGCGCCCGAGGAAGACAGTAGCCAGTGCGGAGGGGCACACAGACCCCCACAGAGCTGCTCACAGACTGTGGCGTCTGCTTCACCAGAGGATAAACCGAGGCACGGAGTGAGGAGGCGGCCAGAACCGGGGTCCCCACCCTGGTGCCTTCCCCTATCTTCACCGCGGAAGGCCGAAGGCAAGTGCTTCCCCTCGAGTGCACGCCCAGGAGGAACCCAGGCCGGGAAAGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCGTGGGAGGAAGCCAGGCTGGGAAGGGTGCATCTGGAGTGTGGCAGGAGCCTCGAGGCCACCTCCAGGGCCGGCACTTGTGGGGCAGATTCTGCAGGACACTCCGTGTTTCAGGTGCGCCTCCCGGGGCCTCCAGGTTGTTGGAGGGGCCCTTCATTGCATCCGCTGCACCCCTGGGTCACAGCCCCTACTGCCCCCACCTCCAGAGCCCACCCTTCCCTGCTCCCGCCTGGCAGTGCCTTCCAGAGAGAAGGGAGGGTCTTGGTGAGCAAGCTTTTTAACCTCAGATACAGCTCGACACGTGCATTGCTTGGGAAAGGTCTACCCTGTGCTCCCGGCACGTGGCCGGAGCCCCCCAGGACTCGAAGGCGGTGGAGTTTGTTCCTGCAACAGGCCCTTCCCCGACCTACGCCCCTCCTTCCCGGGCCCCACGCACAGATTTGGTCTCCATTTCTTTGTTCAGGAGTGGGAGGGCTTCCTGGCGGATCAGCTTCTCGGGCAGCACTGGCCGGAAGGCCACCTGGACCAGGCACCTCTGAGGAGAGACCAGCGTGGGCACAGGGGTTGCCACTTCCCTCCACCTCCCCGGAGCCCCTGCGGGCACTCTACCGTCCTCTGCCCGTGGACTCCCCTCAAGGTCACCTCCCCCTTGAGATTTCAGGCTGCGTGCCCCTTCAGGAAGCCCCTCCCTGACCTCTGTCCCCCAGGAGGCTGGGCGGGCTGC
Task1_train_50
The following genetic variant occurs in CFAP74 (cilia and flagella associated protein 74) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Ciliary dyskinesia, primary, 49, without situs inversus
AAAGTCAGAAATGTAGTTCCAGGTCTTGTCCCTCAGGGTCAGCCGGTGCCTGGCACTGGTGGGGGGATGCTGTTTCTTCCTCTTTTCCTCCTCAGCCTCCTCTTTCAGAATCCGACTGATGATCTCCTGCTTTCTGAGCTTCTGCTCCTCCTCAAAGGCCCTGCGTGGAGTCGCTTCTCAGATGAGTGCAAGAGGTCCCCTGCCTCCACCTTGCCCCAGATGAGACAGTGCCCGGCGGCCCCTCCCTAGCGCCCTCCTGGGGGCTCCGGTCCTGCCCAGCAGCCCCAGGTGAGACAGCGCCTGGCGGCCCCTCCCTAGCTCCCTCCTGGGGACTCCATCCTACCCAGCAGGGCTCTTGGGGTGGGAACTTCCTGGTCCTGGAGCTAAACGCAAGCTCCAGTGGGAAGCAGATGGGCAGAGGCCAAGCCAGAGGTTCCAGGCTTAAACCCCAGCCCTGCCCTGCCCAGTCCATCCCTGCCAAGCCCAGTCCTGCTCAGTCCTGCCCAGCCCTGCCCAGCCCTGCCCAGCCCAGCCTAGCCCTGCCCAGCCCTGCCCTGCCCAACCCAGCCCTGCCCAGCCCTGCCCAACCCAGCCCTGCCCTGCCCTGCCCAGCCCAGGCCTTCCCAGCCCAGCCCTGCACTGCCCAGCCCTGCCTTGCCCAGCCCTGCCCTGCCCAGCCCAGCCCAGACCTTCCCAGTCCAGCCCTGCCAAGCCCAGCCTTGCCCAGCTTAGCCCTGCCCTGCCCAGCCCAGCCCATCCCTTCCAAGTCCAGTCCTGCCCAGCCCTGCCCAGCCCAGCCCTGCCCGGCCCAGCCCTGCCCACTTCGCAGCCCAGTCCCCCAGCAGCCTTGGCTGCCCGGAGGGCTTCTTCCAAGCCCTTATTTCTAGGCTGGCGTGGGGCTGCCACTGAGAGTAGCACCAGGGCTAAAGATGTTCATCCACTCACTGCAGCTGCACTTCCCGGGTGCCTCCTACATGCCAGGCCTGCGCCAGGCTAAGGGATGTATAGGCGGTGGAGCTGCTGCCAGGACCCCCCCGCCCAGGTGGGCAGGCTGATGGGTGGTGGAGAACTCTGATCGTGACTCAGGGGGGTGGGGAGGACGCACTCAGGGCTCTGTGGCACCCAGAGGAGGATGCCTTGCCCAGTGAGAGGGCCAGGAGCCCCCGCCCAGGCAGATCCTAAGCAGTGATTGGCCAGGGCCGTGGACAGGGAGACTGGGATGGGGAGAAAGGGCCAGGCTCCCGGGATGAGGGCAGCTTCGGGCAAAACCCAGGACAGGGTGGTTTGCGTGGAGGTCACTGGGGAGCGTTACGGGCAGGGCTGGGAAAGGCGAGACTGAGCGGGAGAGAGGGGCCTTGTAGGAACCTGGCCCCGAGGTCTGGATCTCAGGAAGCCCAGTGGGGCCCGTGGGTGGGGGGTCCGAGAGGGCAACATGGGCCCCCGTTTGGAGAAGAACAGAGAGTGAAGCCAGAAGCAACGTGTTCACCACGGACCCAAGCTGGCAGGAGGTGGTCTGAGGGGCCAGGAGGGCCCCAAGGCCGTGGCAGCAGGAAGCCAGGTGGACGGCCCTGGACAGGGAGTGAGCAAGGGCAGGCCCAGCAGCACCAGGTTCCCTGGAGGGGCCTGGTGCTCCCTGGAGACTTCTGGGTGGGCCAGGAAAGAGCCCGCCAGTCCCTCCTTGTGAGAAGTCAGGACAGGAGCCGGAGGCTCTCGACAGGGGCCGGGGTTTCAGCGTCTGGGAGGGGAGAAGGGGCCGAGGGTTGGGCGTGGACTGGAGTAGGGGCAGGGCTGGGCAGGCTGAGTCAGGCCCAGGCAGGGCAAGGGTAGCAGCCTGGAGCCCCTGTTCCCGTGCCCCACAGCCGCCTGAGTGGGCGCCCTGGGAGAGAGAGCAGCTTTGCTCAATGTGAAGCCGAACCCCCTTGGCTCTCCCTGCACCCACTGACTGGGCGGGTGCCTCCCGGTGGCACCTCTGCCACCACCCTCACCTCTTCTGGGCCTCCAGCTCCTGGCGCCGGCGCTGGTGGACAAGGTGCCTGAATGCATCCCTGCCCTGGGCCAGAATCGCCTTCTTCTCAGCCTGGACCCTCTGCTCCGCCAGCTCTGCCTTGGCACGGTCCCATGCTTGGAACTTCCGCAGTGTGTCCTTGGAAACAGAGAGCACTGAGATGACAGCAGCAGCACCCACGGGCACATGCACACGCTCACACCTGCACATGTGCACACACAGGTTCATACATGCACACGTGCACACACGTGCACACACACATGCACACCTGCACATGCACACATCACACATGCACACCTGCACACACGTGCACACACACACGCACACCTGCACATGCACACATCACACATGCACACCTGCACACACGTGCACACACATGCTCACACACGCACACCTGCACACACTCATACATGCACACCTGCACACGTGTGCACACACATGCTCACACGTGCACACACATGCTCGCACATGCACACCTGGACACACATGCACACCTGCACACACGTGCACAGACGTGCTTACATGCACACCTGCACACATACGCGTGCACGCCTGCACACACATGCACACACTCACGCATGCACACACATGCAAACCTGCACACACGTGCACATACACGCTCACACATGCACACCTGCAGACACTTGCACACCTGCACACACGTGCACACACATGCACACCTGCACACACACGGTCACACATGCACACACGTGCACACACGGTCACACATGCACACATGCACACACACATGCAAACGTGCACACACACATGCTCACACACTGGGCCGTTGAACAGATGTCCTTAAACCAATGTTGACGCCTGCAGATCCTGTGAGAGACCACTGGCAAACTGTCCGCACATCCCAAGCGTGGGGCTGGGTGTCCCTGCACGTCACCTGCCCGCCTCTGCTCCTCACCTCTGAGCCTTTGCAGATGCTGTTCCCACTCTTCCCTCCATTTTCCCAGCCTGAATCCCCAGCCTTGGCCCCAGGGCATGGCCTCGAGGCACCCAGGCCCTCCATGTGTCTCATGAGGACGCCACTGCTTCCCCAACAAGACCAGGCCCCATGGGAGCAGGGCTGGGGTGCCTGCTCCTGCCTGACTCCAGTGCCTGGCCCTGACCCACACGGAACCCGTGGGCAAATCTGTGGCACAGGCTCGGGAAGCCTCCAGGGGTCACCAAGTGCGCGGGTCAGCCCTGGACGCCAGAGGACACGGGCCTGGCTCCCAAGGAGCAGGGGCCCAGGGACGGACCCCGGCAGGGCGCCAAGGGAGAGGCTGGGTGGGGCTGCGGGGGCCTACCCGGTTCGCGGAGATGCTGCCCTTCAGCGCCACCACCGCATCCATGCGTCGCCTCATGTACTCGTGGCACTCCATCTCCTCCTTCTTCTCTTGCTCTCGGATTCTGAGGAAGGACATTTAAACATTTTTGAGGCTCTGTCGCCCAGGCTGGTGTGCAGTGGTGCGATCACAGCTCTCTGCAGCCTCGACCTCCCAGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAAAGCGCTGGGATCACAGGCATGCACCACCACAAACGGCCACATTTTTAACCGAGGAAGTGACACAGCGATGCCGTGTGGGGTGTTAATTACAGGAGCCTCGGTGCTATCATTTCCACCAGGAATGTGATTAATGGTGAGAACACAAGAGGTGGGATGGGCAAAAGGTGCTGGCGCAGAGGCCGGGCCATGACGACATGGTGGGAACATGCCCTGGAGGGCCAGGCCACGAGGACATGGCGGGAACACGCCCAGCGCATCTCAAGGGCCTCTTCTGAAAAGAAACAGTACCTCAGCACTAAAAATACACACTTATTGGTTTTTGATGATAAGGTGGTGATTCAATAATAAAATCAGGAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTCAGGAGGCTCAGGCAGGAGAATCGCTTGAACC
AAAGTCAGAAATGTAGTTCCAGGTCTTGTCCCTCAGGGTCAGCCGGTGCCTGGCACTGGTGGGGGGATGCTGTTTCTTCCTCTTTTCCTCCTCAGCCTCCTCTTTCAGAATCCGACTGATGATCTCCTGCTTTCTGAGCTTCTGCTCCTCCTCAAAGGCCCTGCGTGGAGTCGCTTCTCAGATGAGTGCAAGAGGTCCCCTGCCTCCACCTTGCCCCAGATGAGACAGTGCCCGGCGGCCCCTCCCTAGCGCCCTCCTGGGGGCTCCGGTCCTGCCCAGCAGCCCCAGGTGAGACAGCGCCTGGCGGCCCCTCCCTAGCTCCCTCCTGGGGACTCCATCCTACCCAGCAGGGCTCTTGGGGTGGGAACTTCCTGGTCCTGGAGCTAAACGCAAGCTCCAGTGGGAAGCAGATGGGCAGAGGCCAAGCCAGAGGTTCCAGGCTTAAACCCCAGCCCTGCCCTGCCCAGTCCATCCCTGCCAAGCCCAGTCCTGCTCAGTCCTGCCCAGCCCTGCCCAGCCCTGCCCAGCCCAGCCTAGCCCTGCCCAGCCCTGCCCTGCCCAACCCAGCCCTGCCCAGCCCTGCCCAACCCAGCCCTGCCCTGCCCTGCCCAGCCCAGGCCTTCCCAGCCCAGCCCTGCACTGCCCAGCCCTGCCTTGCCCAGCCCTGCCCTGCCCAGCCCAGCCCAGACCTTCCCAGTCCAGCCCTGCCAAGCCCAGCCTTGCCCAGCTTAGCCCTGCCCTGCCCAGCCCAGCCCATCCCTTCCAAGTCCAGTCCTGCCCAGCCCTGCCCAGCCCAGCCCTGCCCGGCCCAGCCCTGCCCACTTCGCAGCCCAGTCCCCCAGCAGCCTTGGCTGCCCGGAGGGCTTCTTCCAAGCCCTTATTTCTAGGCTGGCGTGGGGCTGCCACTGAGAGTAGCACCAGGGCTAAAGATGTTCATCCACTCACTGCAGCTGCACTTCCCGGGTGCCTCCTACATGCCAGGCCTGCGCCAGGCTAAGGGATGTATAGGCGGTGGAGCTGCTGCCAGGACCCCCCCGCCCAGGTGGGCAGGCTGATGGGTGGTGGAGAACTCTGATCGTGACTCAGGGGGGTGGGGAGGACGCACTCAGGGCTCTGTGGCACCCAGAGGAGGATGCCTTGCCCAGTGAGAGGGCCAGGAGCCCCCGCCCAGGCAGATCCTAAGCAGTGATTGGCCAGGGCCGTGGACAGGGAGACTGGGATGGGGAGAAAGGGCCAGGCTCCCGGGATGAGGGCAGCTTCGGGCAAAACCCAGGACAGGGTGGTTTGCGTGGAGGTCACTGGGGAGCGTTACGGGCAGGGCTGGGAAAGGCGAGACTGAGCGGGAGAGAGGGGCCTTGTAGGAACCTGGCCCCGAGGTCTGGATCTCAGGAAGCCCAGTGGGGCCCGTGGGTGGGGGGTCCGAGAGGGCAACATGGGCCCCCGTTTGGAGAAGAACAGAGAGTGAAGCCAGAAGCAACGTGTTCACCACGGACCCAAGCTGGCAGGAGGTGGTCTGAGGGGCCAGGAGGGCCCCAAGGCCGTGGCAGCAGGAAGCCAGGTGGACGGCCCTGGACAGGGAGTGAGCAAGGGCAGGCCCAGCAGCACCAGGTTCCCTGGAGGGGCCTGGTGCTCCCTGGAGACTTCTGGGTGGGCCAGGAAAGAGCCCGCCAGTCCCTCCTTGTGAGAAGTCAGGACAGGAGCCGGAGGCTCTCGACAGGGGCCGGGGTTTCAGCGTCTGGGAGGGGAGAAGGGGCCGAGGGTTGGGCGTGGACTGGAGTAGGGGCAGGGCTGGGCAGGCTGAGTCAGGCCCAGGCAGGGCAAGGGTAGCAGCCTGGAGCCCCTGTTCCCGTGCCCCACAGCCGCCTGAGTGGGCGCCCTGGGAGAGAGAGCAGCTTTGCTCAATGTGAAGCCGAACCCCCTTGGCTCTCCCTGCACCCACTGACTGGGCGGGTGCCTCCCGGTGGCACCTCTGCCACCACCCTCACCTCTTCTGGGCCTCCAGCTCCTGGCGCCGGCGCTGGTGGACAAGGTGCCTGAATGCATCCCTGTCCTGGGCCAGAATCGCCTTCTTCTCAGCCTGGACCCTCTGCTCCGCCAGCTCTGCCTTGGCACGGTCCCATGCTTGGAACTTCCGCAGTGTGTCCTTGGAAACAGAGAGCACTGAGATGACAGCAGCAGCACCCACGGGCACATGCACACGCTCACACCTGCACATGTGCACACACAGGTTCATACATGCACACGTGCACACACGTGCACACACACATGCACACCTGCACATGCACACATCACACATGCACACCTGCACACACGTGCACACACACACGCACACCTGCACATGCACACATCACACATGCACACCTGCACACACGTGCACACACATGCTCACACACGCACACCTGCACACACTCATACATGCACACCTGCACACGTGTGCACACACATGCTCACACGTGCACACACATGCTCGCACATGCACACCTGGACACACATGCACACCTGCACACACGTGCACAGACGTGCTTACATGCACACCTGCACACATACGCGTGCACGCCTGCACACACATGCACACACTCACGCATGCACACACATGCAAACCTGCACACACGTGCACATACACGCTCACACATGCACACCTGCAGACACTTGCACACCTGCACACACGTGCACACACATGCACACCTGCACACACACGGTCACACATGCACACACGTGCACACACGGTCACACATGCACACATGCACACACACATGCAAACGTGCACACACACATGCTCACACACTGGGCCGTTGAACAGATGTCCTTAAACCAATGTTGACGCCTGCAGATCCTGTGAGAGACCACTGGCAAACTGTCCGCACATCCCAAGCGTGGGGCTGGGTGTCCCTGCACGTCACCTGCCCGCCTCTGCTCCTCACCTCTGAGCCTTTGCAGATGCTGTTCCCACTCTTCCCTCCATTTTCCCAGCCTGAATCCCCAGCCTTGGCCCCAGGGCATGGCCTCGAGGCACCCAGGCCCTCCATGTGTCTCATGAGGACGCCACTGCTTCCCCAACAAGACCAGGCCCCATGGGAGCAGGGCTGGGGTGCCTGCTCCTGCCTGACTCCAGTGCCTGGCCCTGACCCACACGGAACCCGTGGGCAAATCTGTGGCACAGGCTCGGGAAGCCTCCAGGGGTCACCAAGTGCGCGGGTCAGCCCTGGACGCCAGAGGACACGGGCCTGGCTCCCAAGGAGCAGGGGCCCAGGGACGGACCCCGGCAGGGCGCCAAGGGAGAGGCTGGGTGGGGCTGCGGGGGCCTACCCGGTTCGCGGAGATGCTGCCCTTCAGCGCCACCACCGCATCCATGCGTCGCCTCATGTACTCGTGGCACTCCATCTCCTCCTTCTTCTCTTGCTCTCGGATTCTGAGGAAGGACATTTAAACATTTTTGAGGCTCTGTCGCCCAGGCTGGTGTGCAGTGGTGCGATCACAGCTCTCTGCAGCCTCGACCTCCCAGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAAAGCGCTGGGATCACAGGCATGCACCACCACAAACGGCCACATTTTTAACCGAGGAAGTGACACAGCGATGCCGTGTGGGGTGTTAATTACAGGAGCCTCGGTGCTATCATTTCCACCAGGAATGTGATTAATGGTGAGAACACAAGAGGTGGGATGGGCAAAAGGTGCTGGCGCAGAGGCCGGGCCATGACGACATGGTGGGAACATGCCCTGGAGGGCCAGGCCACGAGGACATGGCGGGAACACGCCCAGCGCATCTCAAGGGCCTCTTCTGAAAAGAAACAGTACCTCAGCACTAAAAATACACACTTATTGGTTTTTGATGATAAGGTGGTGATTCAATAATAAAATCAGGAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTCAGGAGGCTCAGGCAGGAGAATCGCTTGAACC
Task1_train_51
The gene CFAP74 (cilia and flagella associated protein 74) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Ciliary dyskinesia, primary, 49, without situs inversus
CCCTTCAGCGCCACCACCGCATCCATGCGTCGCCTCATGTACTCGTGGCACTCCATCTCCTCCTTCTTCTCTTGCTCTCGGATTCTGAGGAAGGACATTTAAACATTTTTGAGGCTCTGTCGCCCAGGCTGGTGTGCAGTGGTGCGATCACAGCTCTCTGCAGCCTCGACCTCCCAGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAAAGCGCTGGGATCACAGGCATGCACCACCACAAACGGCCACATTTTTAACCGAGGAAGTGACACAGCGATGCCGTGTGGGGTGTTAATTACAGGAGCCTCGGTGCTATCATTTCCACCAGGAATGTGATTAATGGTGAGAACACAAGAGGTGGGATGGGCAAAAGGTGCTGGCGCAGAGGCCGGGCCATGACGACATGGTGGGAACATGCCCTGGAGGGCCAGGCCACGAGGACATGGCGGGAACACGCCCAGCGCATCTCAAGGGCCTCTTCTGAAAAGAAACAGTACCTCAGCACTAAAAATACACACTTATTGGTTTTTGATGATAAGGTGGTGATTCAATAATAAAATCAGGAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTCAGGAGGCTCAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGCAGTGAGCCGAGATCGCGCCACGGCACCCCAGCCTGGGCGACAGAGCAAGGCTCCATCTTAAATAAATAAATAATAAAATCAGGGCATTTCAAGACAAAAGCAAGTGACCCGTATTCTTGGGTTTCTCCTTAAGGACGTCGAAGGGAGGCCCTACCTTCCCAGGGAGGCCTTCAGGAACCGCACGGCAACCTTGTGGTTCTTCCGGGCGTCCTCCAGCAGCTTCTGGTGCCTGAGCCCGAGCTCCTTCTGGGTGTTCAGGGACTTCCTGTGGGGATATGGGGCCGTCAGAGGGAAACTCGGCATCACACGTCCCATCTGCCCCCAAGCCCTGCACGGCTGGAGCTCGTGTCCCAGAGACGCCGTGGGCCCTTTCGCTCAGCTCTGTCCCGCACAGCCTCCCTTGGGGAGGAGCGAGGGTCCCTGGAGAGCTGATGCCGTGGGCCACACAGATGTCAAACTCTCCACGCTACTGGGGCTCCAGTGCCAGGGAGCCACCAAAGGCAAGGTTTGATCCCAGCTGGGCAGGGGTCTGGGAAGAGGACGGTGCAGGCACAGCAGTGCTGTGGGGAGGGAGGAGGCAGGGGCTGGGGACCTTGTGTCTGCAGCCAGGGCCTGGATTCCACAGGGGTTTGTGGCCTGGGCAGCTGAAGGGAAGGAATGAGATGGGGGAGGGGATGGAGGCCAGAAGGGGGTCCCGAGGAGAGAGGCTCACGGCAGGTTGGGACAGCTGGCCTGATGGCCTGTGGAGCACTTGGGGACTGGCCTAGTAGGTGGCCGGGCCCTGGCTGAGCAGGAGACTCATGACAGAAGACGTGTGGGGAATGGGCCTGAGTGCTCCACAGCCACGCAGGTGGGGGCCGTGGGAGGGGTGCAAAGGAGCAGCCAGAGGTGGGGATGGAGCCCAGAGAATGGCCTGGCTGGGAAGAGGAAGGGGCTGCCGGAGGGAAAGGGGAGGGGCAGTCTTGCTGGAGCGTGGCTTTAGTAGCCAGCTTTAGCGGCTGTATGGTGGCTGCGGCATCTTGGGAGGGCTGGGGCTCTGGGCAGGTGCAGGGGAGTGCCTGACACTTGGGAAGGACTCAAGGGCCCGGTGGAGGAGCAAGCTGGGAGGAGGCAGGGAGGGGTGGAGGTGGATCTGGACAGATGTGGAGGGCGAGGCTGAATCTGGAGACCCCTGGGGGAGAGGGCGGAGGGGCTGGCAGAAGCTGCTGGGAAGGGATGGAGGTGGGCCTGGGTGTCGCCTACCTGATCCTCAGCAGTCGGTTCCGCTCCACCTTCCCCAGGGCCTCCTGCTCTCTGCAGAGCTGCTCGGCTGCGCGCACCTGGAGCCGCCGCCCCGTGGCCTCCACCTCCTCACGGTCAGCTGTCCGGAAGGCCTCGAGTCGCCCCTCCTGGATCTCGATGTGCCACATGGTGTTCCTTCAAACAAGAGGCAAAGCAGCTGGAGACGGGCCCCACAGTCATCCTGGGGTGGGGGTTTCGGCATTGAGTTCTGACAAATCCTCCAGGCAGATGTTGAACACCCCAGATGGGTTAGCTCCCTCCTCTAGGGGCCATCTCCGCTCTGAGTCACCCAGACACTGAGGCCCGCCCTGCCTGCCTCCAACCTCAGGAAAATCACTATGGGTTCAATCCAGCCCGGCTAGAGCCTGGCCTGCACTCCCGCGTGCCACCTGCCGGCCTGAGGCTGTGTCCGTTGGCTGCGGTGGGCCTGGGGCAGGCCCTGCCCAGCCTGAGGAAGGCCTTCAGGAAGGGACAGCCGTGACTCTTTGGCTGGGCTGGAGGATCCCTGGTGCAAATTGACCGGCACCCAAGACCACCCCTCAGTCTTCAAATGTGCCTGGGGTGGGGGCTATGGAGCGTGGAGTCAGCCAGCCCTGCCCGGGGCCACATGTCCTGGATGACAGGGGACCTGCCTGACCCCTGGTCTTGGGCGAATTTGTCCTCGACTGTGAGTGTGGCGTCTGTGGTGGCCCCAGATGACACAGTGCCCCTTGGTTCTTGGCACAACTCAGGGAAATTTCCGGTGAATCTTTAGTTGGAGGAGTGCGTGTGCTGTGGAGGCTCAGGCTGGGAAAGTTCCTTCTGAGGATGTGGACAGTGTCCTTCTAACAGCGGCCAGGTGAGAGCCGCTGGAGAGGCGGCCTGGAAAGAGACACCTGGTGGAGGGATGCAAGGAGCCGCTCCTGGAGACTGCGAACGGTTCCACCCAGAGATGCGGCTCAGGCCGGGGCTGGCCACGCGAGGATCAGAACCCTGGACAAGGTCAGACGCAGGCGTTGAGCCGGCATCCTCACTGCATTGCTGACATTCCACGTGACGTGTGCCACAGCTCTGTCCTAGACACCCGCGATCATGTTCATTTCCACTTCGTCTTTCGTTAAAAGCTTTTCCTGTGGAGCCGAGTCCAGTCTCTCTCCCCACTGCAACACCCGGGGCAGGGGTCCCACCGCCTTGGCCCTCCGTGAATAAAGTCTGCTTTACATCTTTTTGAAAAAATCATGAACATATGTTGAATTGAGATACTCAATGGTTTTCTCTTTTAACGTGTTAATGTCAAGGATTTCTAACGTTGAGCCTTTTTCGGGGCTCCTAGGATATAAACTCCAACTTGGCAAGGGAGGTGTGTCTGCGTGTCTCACACGTGGCTGGATTTCAATGTTGAATGTTTGATTTGGGGTTTTCTGATTTGCCTCCTGAGATCGGGTTCTACTTTCCCTCTCTCGTACGCCCACTTGGTTTTGGCATCGAGGTTGTGTCACTGCATTTTAGAAACTGGGCATACCATGTTCTTTGTTGGGGTAATTTTAAACAGAGGGCTCCTTTCCAGGGAGCATGGGTCACTTCGGATCTCTGGCTGGTGTCCTGTCATGCAGCACGTTCATTGCTCCCCAAGTCTGGGGGACTCCGCGGAGCTTCCACGGGCGGGTTATTTCTATTCCTCCCTCGCGTGACTCATGAAATTCTTTAATCTGAGGATTCATGCTCCCATCAATTCTGGAAAACGCTCAGTCATTGTTCTGCTGGCTGTCACTTCCCCTGCCCGGTGATCAGTGCTCCAGTGGCCGTGGGAGCTAACAGCCTGCAGGGTCTCTTAGTAAAGAGGCAAGACGCTGTCCCAGATGCTGTCGTCGCCCATTCCTGCTGCTGTAGGAAAACACCCACGACCGGGTCTTCGCAAACAACAGAATTTCATTCCTCAGTTCTGGAGGCCGGGAAGTCCAAGGTCAAGGTGCCAGCAGCTTCGATGGCCTATGAAAGCCTGTTCCTCAAAGGCAGTGCCTGTCTGTGTCCTCACGTGGCAGAGGGACAGAA
CCCTTCAGCGCCACCACCGCATCCATGCGTCGCCTCATGTACTCGTGGCACTCCATCTCCTCCTTCTTCTCTTGCTCTCGGATTCTGAGGAAGGACATTTAAACATTTTTGAGGCTCTGTCGCCCAGGCTGGTGTGCAGTGGTGCGATCACAGCTCTCTGCAGCCTCGACCTCCCAGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAAAGCGCTGGGATCACAGGCATGCACCACCACAAACGGCCACATTTTTAACCGAGGAAGTGACACAGCGATGCCGTGTGGGGTGTTAATTACAGGAGCCTCGGTGCTATCATTTCCACCAGGAATGTGATTAATGGTGAGAACACAAGAGGTGGGATGGGCAAAAGGTGCTGGCGCAGAGGCCGGGCCATGACGACATGGTGGGAACATGCCCTGGAGGGCCAGGCCACGAGGACATGGCGGGAACACGCCCAGCGCATCTCAAGGGCCTCTTCTGAAAAGAAACAGTACCTCAGCACTAAAAATACACACTTATTGGTTTTTGATGATAAGGTGGTGATTCAATAATAAAATCAGGAGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTCAGGAGGCTCAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGCAGTGAGCCGAGATCGCGCCACGGCACCCCAGCCTGGGCGACAGAGCAAGGCTCCATCTTAAATAAATAAATAATAAAATCAGGGCATTTCAAGACAAAAGCAAGTGACCCGTATTCTTGGGTTTCTCCTTAAGGACGTCGAAGGGAGGCCCTACCTTCCCAGGGAGGCCTTCAGGAACCGCACGGCAACCTTGTGGTTCTTCCGGGCGTCCTCCAGCAGCTTCTGGTGCCTGAGCCCGAGCTCCTTCTGGGTGTTCAGGGACTTCCTGTGGGGATATGGGGCCGTCAGAGGGAAACTCGGCATCACACGTCCCATCTGCCCCCAAGCCCTGCACGGCTGGAGCTCGTGTCCCAGAGACGCCGTGGGCCCTTTCGCTCAGCTCTGTCCCGCACAGCCTCCCTTGGGGAGGAGCGAGGGTCCCTGGAGAGCTGATGCCGTGGGCCACACAGATGTCAAACTCTCCACGCTACTGGGGCTCCAGTGCCAGGGAGCCACCAAAGGCAAGGTTTGATCCCAGCTGGGCAGGGGTCTGGGAAGAGGACGGTGCAGGCACAGCAGTGCTGTGGGGAGGGAGGAGGCAGGGGCTGGGGACCTTGTGTCTGCAGCCAGGGCCTGGATTCCACAGGGGTTTGTGGCCTGGGCAGCTGAAGGGAAGGAATGAGATGGGGGAGGGGATGGAGGCCAGAAGGGGGTCCCGAGGAGAGAGGCTCACGGCAGGTTGGGACAGCTGGCCTGATGGCCTGTGGAGCACTTGGGGACTGGCCTAGTAGGTGGCCGGGCCCTGGCTGAGCAGGAGACTCATGACAGAAGACGTGTGGGGAATGGGCCTGAGTGCTCCACAGCCACGCAGGTGGGGGCCGTGGGAGGGGTGCAAAGGAGCAGCCAGAGGTGGGGATGGAGCCCAGAGAATGGCCTGGCTGGGAAGAGGAAGGGGCTGCCGGAGGGAAAGGGGAGGGGCAGTCTTGCTGGAGCGTGGCTTTAGTAGCCAGCTTTAGCGGCTGTATGGTGGCTGCGGCATCTTGGGAGGGCTGGGGCTCTGGGCAGGTGCAGGGGAGTGCCTGACACTTGGGAAGGACTCAAGGGCCCGGTGGAGGAGCAAGCTGGGAGGAGGCAGGGAGGGGTGGAGGTGGATCTGGACAGATGTGGAGGGCGAGGCTGAATCTGGAGACCCCTGGGGGAGAGGGCGGAGGGGCTGGCAGAAGCTGCTGGGAAGGGATGGAGGTGGGCCTGGGTGTCGCCTACCTGATCCTCAGCAGTCGGTTCCACTCCACCTTCCCCAGGGCCTCCTGCTCTCTGCAGAGCTGCTCGGCTGCGCGCACCTGGAGCCGCCGCCCCGTGGCCTCCACCTCCTCACGGTCAGCTGTCCGGAAGGCCTCGAGTCGCCCCTCCTGGATCTCGATGTGCCACATGGTGTTCCTTCAAACAAGAGGCAAAGCAGCTGGAGACGGGCCCCACAGTCATCCTGGGGTGGGGGTTTCGGCATTGAGTTCTGACAAATCCTCCAGGCAGATGTTGAACACCCCAGATGGGTTAGCTCCCTCCTCTAGGGGCCATCTCCGCTCTGAGTCACCCAGACACTGAGGCCCGCCCTGCCTGCCTCCAACCTCAGGAAAATCACTATGGGTTCAATCCAGCCCGGCTAGAGCCTGGCCTGCACTCCCGCGTGCCACCTGCCGGCCTGAGGCTGTGTCCGTTGGCTGCGGTGGGCCTGGGGCAGGCCCTGCCCAGCCTGAGGAAGGCCTTCAGGAAGGGACAGCCGTGACTCTTTGGCTGGGCTGGAGGATCCCTGGTGCAAATTGACCGGCACCCAAGACCACCCCTCAGTCTTCAAATGTGCCTGGGGTGGGGGCTATGGAGCGTGGAGTCAGCCAGCCCTGCCCGGGGCCACATGTCCTGGATGACAGGGGACCTGCCTGACCCCTGGTCTTGGGCGAATTTGTCCTCGACTGTGAGTGTGGCGTCTGTGGTGGCCCCAGATGACACAGTGCCCCTTGGTTCTTGGCACAACTCAGGGAAATTTCCGGTGAATCTTTAGTTGGAGGAGTGCGTGTGCTGTGGAGGCTCAGGCTGGGAAAGTTCCTTCTGAGGATGTGGACAGTGTCCTTCTAACAGCGGCCAGGTGAGAGCCGCTGGAGAGGCGGCCTGGAAAGAGACACCTGGTGGAGGGATGCAAGGAGCCGCTCCTGGAGACTGCGAACGGTTCCACCCAGAGATGCGGCTCAGGCCGGGGCTGGCCACGCGAGGATCAGAACCCTGGACAAGGTCAGACGCAGGCGTTGAGCCGGCATCCTCACTGCATTGCTGACATTCCACGTGACGTGTGCCACAGCTCTGTCCTAGACACCCGCGATCATGTTCATTTCCACTTCGTCTTTCGTTAAAAGCTTTTCCTGTGGAGCCGAGTCCAGTCTCTCTCCCCACTGCAACACCCGGGGCAGGGGTCCCACCGCCTTGGCCCTCCGTGAATAAAGTCTGCTTTACATCTTTTTGAAAAAATCATGAACATATGTTGAATTGAGATACTCAATGGTTTTCTCTTTTAACGTGTTAATGTCAAGGATTTCTAACGTTGAGCCTTTTTCGGGGCTCCTAGGATATAAACTCCAACTTGGCAAGGGAGGTGTGTCTGCGTGTCTCACACGTGGCTGGATTTCAATGTTGAATGTTTGATTTGGGGTTTTCTGATTTGCCTCCTGAGATCGGGTTCTACTTTCCCTCTCTCGTACGCCCACTTGGTTTTGGCATCGAGGTTGTGTCACTGCATTTTAGAAACTGGGCATACCATGTTCTTTGTTGGGGTAATTTTAAACAGAGGGCTCCTTTCCAGGGAGCATGGGTCACTTCGGATCTCTGGCTGGTGTCCTGTCATGCAGCACGTTCATTGCTCCCCAAGTCTGGGGGACTCCGCGGAGCTTCCACGGGCGGGTTATTTCTATTCCTCCCTCGCGTGACTCATGAAATTCTTTAATCTGAGGATTCATGCTCCCATCAATTCTGGAAAACGCTCAGTCATTGTTCTGCTGGCTGTCACTTCCCCTGCCCGGTGATCAGTGCTCCAGTGGCCGTGGGAGCTAACAGCCTGCAGGGTCTCTTAGTAAAGAGGCAAGACGCTGTCCCAGATGCTGTCGTCGCCCATTCCTGCTGCTGTAGGAAAACACCCACGACCGGGTCTTCGCAAACAACAGAATTTCATTCCTCAGTTCTGGAGGCCGGGAAGTCCAAGGTCAAGGTGCCAGCAGCTTCGATGGCCTATGAAAGCCTGTTCCTCAAAGGCAGTGCCTGTCTGTGTCCTCACGTGGCAGAGGGACAGAA
Task1_train_52
Gene GABRD (gamma-aminobutyric acid type A receptor subunit delta) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 10
TGAGACCCTGTCTCATAAACAAACAAAAACATCGGGATATTTTACATAGGAATTTAAATATTTGACCTCTCCTAGAAAATCAAGTGCGTGGCAACTCTGGGCCTATTCCCGTGTGTTCCTCAGCCATCGCTCGGGCCAGGGCCTGGGTGTGAAGGCTGTCCCCTGCCCCGTAGGCCCCCAGCCTAGTTCAATAGTCAAGCGTTTTGAAGAGAATGAATGAAATCCAGTTCTTGACGGTCCTAAAGGAATACTTGACGTCTATGAAGTTGAGCAGTTTCCAGGTTTACCTGGATTCTGGGCAAACACAGTCTGAGAAGTAGCTGGGGCTCCAGGCAGGTGCTCAGGGGGCATCTCTGCAGGGGAACTGCCAGGCTTTCGGGAGGGCTGGCCTCACCCCCAAGGCCTCACTGCCATGCTTGTCTTGGCAGAATCACCTCCACTGTGGCCTGCGACATGGACCTGGCCAAATACCCCATGGACGAGCAGGAGTGCATGCTGGACCTGGAGAGCTGTGAGTGGGTGTGCAAGGCGGGTAGGGGCTTCTCCAGCAGTGGATGGGGGCTCAGACTGTCAGCCCGGGGCCTGGACAAGGCTGGCCCGGCTCAGGATGCAGGAAAGCACCAAACCAGCTTCTGCATGCAAGAAGCCTGGGCAGGAGGAGAAGGGGCCAGAAAGCCTGGAGCAGTCTGGCTTGTGGGTCTGTGCCCTGCCTGGGGAGCCGGGCCATGGAGCCCAGACATGGCACGGATTGATATTGTTGAGCCAGTGCAGCAGCCCCTGTGTGTCACCTGACAACGGTGACCCCATCTGTGTCCCATCCACCTGCCCGGAGGAGCCCGACGTGGTCCCAGAGCCGAAGGTCTCCTCGCTCCTGGCTGGGGTCCTGCTCGGTCCCCATCACGATGGCGTCGGCCCCCTGCAGGCTTCCTGTGTGGACGGAGCGCTCCTGCCAGGGCTCCCGGGGCAGGGCCGGGCTCTGCCGCCCACCTGTGTGCTTTTCCTCCAGACGGTTACTCATCGGAGGACATCGTCTACTACTGGTCGGAGAGCCAGGAGCACATCCACGGGCTGGACAAGCTGCAGCTGGCGCAGTTCACCATCACCAGCTACCGCTTCACCACGGAGCTGATGAACTTCAAGTCCGGTAACATATGCCCGCCGCCCCTTCCGCATGTGCCCGCCGCCCCTTCCGCGCGCGCCCACCGCCCCTTCCGCGCGCGCCCACCGCCCCTTCCGCGTGCGCCCGCCTGTGGTTTTCATGCTTTTTAGTCAAGCGCCCGCAGGCCCCCAGGGCCTCTGGGGATGCAGCTGGGACGCTGCTGCCTTAGGAACTTGCTCATTGGCACCAGCTGCACCTGAACCAGGGCTTCCAGGCCTGCCATTGTGTGGGCGTGGGTCAGGCCTTCCCATCTCACTCCTTGGTCCTTTCTCTCTTCCCAGCACTCCAGATTTATGGGAAACCAGAGGGTGTGGGGAGCTCTCTTAGCCCCAGGTCTGCAGGGCTCAGGAGCCAAGCTTTCCTTGGCTACCTTGTCTCCCAGCCCCACTTTCCCACCCCTACGCACCCCGTCCCCGGTCATCCAGAGCCAGTGAGCCCAGTGCTGGCTCCTTCCAGAGCCTGGCTGTGCCCGCAGGAGTGTTAGGAGAGAAAGGGGTGAGCCCTCCCCATTGGTTGCGAGGGTCCCTCAGGGCCAGTCCAGCAAACATGAGGCCAGCAGTAACCTCAGCCTCTCTCCCTCTCCTCTGGGTGACACTGCTCAGGACCAGCCTGTCCTGTGGCCAGACCTAGGGCCGGAGGCCCCCTGACATTTCAGGCCATGTGGTTGGTGGGGAGGGCAGGGGTCTAAGTCTCTCTTCTGAGCCCTGGTGGGCCCCGTAGCTGCCAAGCCCTGCAGCCCCTGAGTCCCATGGTTGGGCTGGGCTGGGCAGGGATGGGGGCACTGACGGTGGCTGTCCTGGCAGCTGGCCAGTTCCCACGGCTCAGCCTGCACTTCCACCTGCGGAGGAACCGCGGCGTGTACATCATCCAATCCTACATGCCCTCCGTCCTGCTGGTCGCCATGTCCTGGGTCTCCTTCTGGATCAGCCAGGCGGCGGTGCCCGCCAGGGTGTCTCTAGGTACGGGGCCTCGCCGCTGCTCCGAGGGAGCTGGAAGGGCGGCCCTGGGGAACAGGACTCCCCATCCCTCGGCTGGGGGCTCAGCACTGGCCTCTGGACCATGCCAGCTGTCCTGGGGCAGTGGCCAGCCGGGCCAGGCCAGGTCAGGGAAACAGGACCTGCTCCCTGGGGTGGGCATGGGGGTGGGGGGCAGCGGACCCTCATCCGTGGGTCACAGGCATCAAGGCTGGGATGGGGCGGCGTGAGGGCAGGGCTACGACAATGGCACCACCTGTGCCCGGCAGGCATCACCACGGTGCTGACGATGACCACGCTCATGGTCAGTGCCCGCTCCTCCCTGCCACGGGCATCAGCCATCAAGGCACTGGACGTCTACTTCTGGATCTGCTATGTCTTCGTGTTTGCCGCCCTGGTGGAGTACGCCTTTGCTCATTTCAACGCCGACTACAGGAAGAAGCAGAAGGCCAAGGTCAAGGTCTCCAGGCCGAGGGCAGAGGTGAGGGCCTGGGGCCGAGCCAGGGACAGCACTGCTGGGGGCCCCAACCAGGACCCTTCAGCTGCCCCAGCCCACTGTGGGTCCCAGCTGTGCTCCCTGAGCGTGGGGGGCTGGAGCTGCTGGTCCAGGCGGGGCCCCCGCATGGGAACACCTGTGGTCCAGGGCCCTGGGAGCTGCACCCCAGTGCTCAGCCCTGTCTCCCCCACCGGCCTTCGTGCAGATGGACGTGAGGAACGCCATTGTCCTCTTCTCCCTCTCTGCTGCCGGCGTCACGCAGGAGCTGGCCATCTCCCGCCGGCAGCGCCGCGTCCCGGGGAACCTGATGGGCTCCTACAGGTCGGTGGGGGTGGAGACAGGGGAGACGAAGAAGGAGGGGGCAGCCCGCTCAGGAGGCCAGGGGGGCATCCGTGCCCGGCTCAGGCCCATCGACGCAGACACCATTGACATTTACGCCCGCGCTGTGTTCCCTGCGGCGTTTGCGGCCGTCAATGTCATCTACTGGGCGGCATACGCCATGTGAGCACAGGACTCAGGCCACCCTCGCTTGTCCTGGCGCCCGGCGGCAGCTGCCCAGAAACTTCCTGGGAGAAAGAGCCCTCGGGCTGCCTTCCCCTCTGCGTGTTTCGAAGTGGGATGACAGTCGGCCACGGAAAACAAGAGGAAGCCTCGGCCTCCCTGAGCTCTGACCCCAGCCTCACCCGAAAGGCCAGCCTGGGGCTCTCCGGCAGGCAGCCCGAGACCTGCACAGATGAAGGAGCAGAGGTTCTGACCGAGAGGCTGAGCCAGGCCGGGGTCTGGGCCCTTCAGGGAGCCGCGGATTTTTATGTTCAGAAAGTGATCCTGGTTTCTAGGTCTTTGCTCTGCAGGATCGGGATCAGAGCGTGGGAGGAGGTGGGGGTGGACGTCCATCCGGTGAACAGTGAAGGCGTTTGTGAGGTCTTTCTGGTCCCAGCATGAAATAAAGCCTTGGCCTGGGGGCCGCTTCATTCTCCCTCACTGTGCTGCGCTTCACTCCTGGGGTGCCTGGAGCCCACCCCAGCTGCCCGGAACACCCTTCTCCAGCTGCAGGCTCCCTGGGCGGTGTTTGGGTGGGAGCTGATTGTGAAAGTGCAGAGAACACTCAGGGTTGAACATACACCTTGCCCAGGGGAAACAGTGGGTCGAGGTCCTGGGAAGGAGGCTGTCCTTGTCAGCAGGGCAGGCTTCGAGGGAAGAGCTTCAGGAAGTGATGAACCAGTTTTTGTGATGCTGGCTTCAGGCACTGGGTCTCCTCATCTATGTCCCCGCGCTGTGATGAGGCCATTTTCTCCAGGGGCGTGAGGCAAGATCCTGCGCCGACAGTGTGAGGGAGTGAGCTCAGGGTCACTGTCCCAAAGCCGGGAGCTTTTGAAGTGTCTTCCTGAGATCCTGGGGCTCAACACTAGACTTGGGAACAGAGACTTGGGGACACAGGGGCTCAGGGGCTGGATCCCAGATGAGCCA
TGAGACCCTGTCTCATAAACAAACAAAAACATCGGGATATTTTACATAGGAATTTAAATATTTGACCTCTCCTAGAAAATCAAGTGCGTGGCAACTCTGGGCCTATTCCCGTGTGTTCCTCAGCCATCGCTCGGGCCAGGGCCTGGGTGTGAAGGCTGTCCCCTGCCCCGTAGGCCCCCAGCCTAGTTCAATAGTCAAGCGTTTTGAAGAGAATGAATGAAATCCAGTTCTTGACGGTCCTAAAGGAATACTTGACGTCTATGAAGTTGAGCAGTTTCCAGGTTTACCTGGATTCTGGGCAAACACAGTCTGAGAAGTAGCTGGGGCTCCAGGCAGGTGCTCAGGGGGCATCTCTGCAGGGGAACTGCCAGGCTTTCGGGAGGGCTGGCCTCACCCCCAAGGCCTCACTGCCATGCTTGTCTTGGCAGAATCACCTCCACTGTGGCCTGCGACATGGACCTGGCCAAATACCCCATGGACGAGCAGGAGTGCATGCTGGACCTGGAGAGCTGTGAGTGGGTGTGCAAGGCGGGTAGGGGCTTCTCCAGCAGTGGATGGGGGCTCAGACTGTCAGCCCGGGGCCTGGACAAGGCTGGCCCGGCTCAGGATGCAGGAAAGCACCAAACCAGCTTCTGCATGCAAGAAGCCTGGGCAGGAGGAGAAGGGGCCAGAAAGCCTGGAGCAGTCTGGCTTGTGGGTCTGTGCCCTGCCTGGGGAGCCGGGCCATGGAGCCCAGACATGGCACGGATTGATATTGTTGAGCCAGTGCAGCAGCCCCTGTGTGTCACCTGACAACGGTGACCCCATCTGTGTCCCATCCACCTGCCCGGAGGAGCCCGACGTGGTCCCAGAGCCGAAGGTCTCCTCGCTCCTGGCTGGGGTCCTGCTCGGTCCCCATCACGATGGCGTCGGCCCCCTGCAGGCTTCCTGTGTGGACGGAGCGCTCCTGCCAGGGCTCCCGGGGCAGGGCCGGGCTCTGCCGCCCACCTGTGTGCTTTTCCTCCAGACGGTTACTCATCGGAGGACATCGTCTACTACTGGTCGGAGAGCCAGGAGCACATCCACGGGCTGGACAAGCTGCAGCTGGCGCAGTTCACCATCACCAGCTACCGCTTCACCACGGAGCTGATGAACTTCAAGTCCGGTAACATATGCCCGCCGCCCCTTCCGCATGTGCCCGCCGCCCCTTCCGCGCGCGCCCACCGCCCCTTCCGCGCGCGCCCACCGCCCCTTCCGCGTGCGCCCGCCTGTGGTTTTCATGCTTTTTAGTCAAGCGCCCGCAGGCCCCCAGGGCCTCTGGGGATGCAGCTGGGACGCTGCTGCCTTAGGAACTTGCTCATTGGCACCAGCTGCACCTGAACCAGGGCTTCCAGGCCTGCCATTGTGTGGGCGTGGGTCAGGCCTTCCCATCTCACTCCTTGGTCCTTTCTCTCTTCCCAGCACTCCAGATTTATGGGAAACCAGAGGGTGTGGGGAGCTCTCTTAGCCCCAGGTCTGCAGGGCTCAGGAGCCAAGCTTTCCTTGGCTACCTTGTCTCCCAGCCCCACTTTCCCACCCCTACGCACCCCGTCCCCGGTCATCCAGAGCCAGTGAGCCCAGTGCTGGCTCCTTCCAGAGCCTGGCTGTGCCCGCAGGAGTGTTAGGAGAGAAAGGGGTGAGCCCTCCCCATTGGTTGCGAGGGTCCCTCAGGGCCAGTCCAGCAAACATGAGGCCAGCAGTAACCTCAGCCTCTCTCCCTCTCCTCTGGGTGACACTGCTCAGGACCAGCCTGTCCTGTGGCCAGACCTAGGGCCGGAGGCCCCCTGACATTTCAGGCCATGTGGTTGGTGGGGAGGGCAGGGGTCTAAGTCTCTCTTCTGAGCCCTGGTGGGCCCCGTAGCTGCCAAGCCCTGCAGCCCCTGAGTCCCATGGTTGGGCTGGGCTGGGCAGGGATGGGGGCACTGACGGTGGCTGTCCTGGCAGCTGGCCAGTTCCCACGGCTCAGCCTGCACTTCCACCTGCGGAGGAACCGCGGCGTGTACATCATCCAATCCTACATGCCCTCCGTCGTGCTGGTCGCCATGTCCTGGGTCTCCTTCTGGATCAGCCAGGCGGCGGTGCCCGCCAGGGTGTCTCTAGGTACGGGGCCTCGCCGCTGCTCCGAGGGAGCTGGAAGGGCGGCCCTGGGGAACAGGACTCCCCATCCCTCGGCTGGGGGCTCAGCACTGGCCTCTGGACCATGCCAGCTGTCCTGGGGCAGTGGCCAGCCGGGCCAGGCCAGGTCAGGGAAACAGGACCTGCTCCCTGGGGTGGGCATGGGGGTGGGGGGCAGCGGACCCTCATCCGTGGGTCACAGGCATCAAGGCTGGGATGGGGCGGCGTGAGGGCAGGGCTACGACAATGGCACCACCTGTGCCCGGCAGGCATCACCACGGTGCTGACGATGACCACGCTCATGGTCAGTGCCCGCTCCTCCCTGCCACGGGCATCAGCCATCAAGGCACTGGACGTCTACTTCTGGATCTGCTATGTCTTCGTGTTTGCCGCCCTGGTGGAGTACGCCTTTGCTCATTTCAACGCCGACTACAGGAAGAAGCAGAAGGCCAAGGTCAAGGTCTCCAGGCCGAGGGCAGAGGTGAGGGCCTGGGGCCGAGCCAGGGACAGCACTGCTGGGGGCCCCAACCAGGACCCTTCAGCTGCCCCAGCCCACTGTGGGTCCCAGCTGTGCTCCCTGAGCGTGGGGGGCTGGAGCTGCTGGTCCAGGCGGGGCCCCCGCATGGGAACACCTGTGGTCCAGGGCCCTGGGAGCTGCACCCCAGTGCTCAGCCCTGTCTCCCCCACCGGCCTTCGTGCAGATGGACGTGAGGAACGCCATTGTCCTCTTCTCCCTCTCTGCTGCCGGCGTCACGCAGGAGCTGGCCATCTCCCGCCGGCAGCGCCGCGTCCCGGGGAACCTGATGGGCTCCTACAGGTCGGTGGGGGTGGAGACAGGGGAGACGAAGAAGGAGGGGGCAGCCCGCTCAGGAGGCCAGGGGGGCATCCGTGCCCGGCTCAGGCCCATCGACGCAGACACCATTGACATTTACGCCCGCGCTGTGTTCCCTGCGGCGTTTGCGGCCGTCAATGTCATCTACTGGGCGGCATACGCCATGTGAGCACAGGACTCAGGCCACCCTCGCTTGTCCTGGCGCCCGGCGGCAGCTGCCCAGAAACTTCCTGGGAGAAAGAGCCCTCGGGCTGCCTTCCCCTCTGCGTGTTTCGAAGTGGGATGACAGTCGGCCACGGAAAACAAGAGGAAGCCTCGGCCTCCCTGAGCTCTGACCCCAGCCTCACCCGAAAGGCCAGCCTGGGGCTCTCCGGCAGGCAGCCCGAGACCTGCACAGATGAAGGAGCAGAGGTTCTGACCGAGAGGCTGAGCCAGGCCGGGGTCTGGGCCCTTCAGGGAGCCGCGGATTTTTATGTTCAGAAAGTGATCCTGGTTTCTAGGTCTTTGCTCTGCAGGATCGGGATCAGAGCGTGGGAGGAGGTGGGGGTGGACGTCCATCCGGTGAACAGTGAAGGCGTTTGTGAGGTCTTTCTGGTCCCAGCATGAAATAAAGCCTTGGCCTGGGGGCCGCTTCATTCTCCCTCACTGTGCTGCGCTTCACTCCTGGGGTGCCTGGAGCCCACCCCAGCTGCCCGGAACACCCTTCTCCAGCTGCAGGCTCCCTGGGCGGTGTTTGGGTGGGAGCTGATTGTGAAAGTGCAGAGAACACTCAGGGTTGAACATACACCTTGCCCAGGGGAAACAGTGGGTCGAGGTCCTGGGAAGGAGGCTGTCCTTGTCAGCAGGGCAGGCTTCGAGGGAAGAGCTTCAGGAAGTGATGAACCAGTTTTTGTGATGCTGGCTTCAGGCACTGGGTCTCCTCATCTATGTCCCCGCGCTGTGATGAGGCCATTTTCTCCAGGGGCGTGAGGCAAGATCCTGCGCCGACAGTGTGAGGGAGTGAGCTCAGGGTCACTGTCCCAAAGCCGGGAGCTTTTGAAGTGTCTTCCTGAGATCCTGGGGCTCAACACTAGACTTGGGAACAGAGACTTGGGGACACAGGGGCTCAGGGGCTGGATCCCAGATGAGCCA
Task1_train_53
This mutation occurs in SKI (SKI proto-oncogene) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Shprintzen-Goldberg syndrome
CGTGGCCCTCTCGCCTCCGCCCAGCACCCAGGCCAGCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCC
CGTGGCCCTCTCGCCTCCGCCCAGCACCCAGGCCAGCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGATGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCC
Task1_train_54
A genomic change on Chromosome 1 affects SKI (SKI proto-oncogene). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Shprintzen-Goldberg syndrome
GGCCCTCTCGCCTCCGCCCAGCACCCAGGCCAGCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTC
GGCCCTCTCGCCTCCGCCCAGCACCCAGGCCAGCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCGGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTC
Task1_train_55
A sequence alteration has been identified in SKI (SKI proto-oncogene) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Shprintzen-Goldberg syndrome
GCACCCAGGCCAGCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTG
GCACCCAGGCCAGCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCACCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTG
Task1_train_56
A variant on Chromosome 1 in gene SKI (SKI proto-oncogene) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Shprintzen-Goldberg syndrome
CCAGCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGG
CCAGCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCCCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGG
Task1_train_57
Given this context: Chromosome 1, gene SKI (SKI proto-oncogene) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Inborn genetic diseases
GCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGC
GCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGGTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGC
Task1_train_58
The gene SKI (SKI proto-oncogene), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Shprintzen-Goldberg syndrome
GCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGC
GCTTGGGCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGGTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGC
Task1_train_59
A variant found in Chromosome 1 affects SKI (SKI proto-oncogene). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection
GCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGCTGTGGA
GCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCCGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGCTGTGGA
Task1_train_60
Consider a variant on Chromosome 1 in gene SKI (SKI proto-oncogene). Determine its clinical classification and disease relevance.
Pathogenic; Inborn genetic diseases
GCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGCTGTGGA
GCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCTGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGCTGTGGA
Task1_train_61
Given a variant located on Chromosome 1 and affecting SKI (SKI proto-oncogene), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Shprintzen-Goldberg syndrome
GCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGCTGTGGA
GCACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCTGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGCTGTGGA
Task1_train_62
This variant affects the gene SKI (SKI proto-oncogene) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Shprintzen-Goldberg syndrome
CACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGCTGTGGAT
CACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGACCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGCTGTGGAT
Task1_train_63
Given this variant in gene SKI (SKI proto-oncogene) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Shprintzen-Goldberg syndrome
CACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGCTGTGGAT
CACCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGTCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGCTGTGGAT
Task1_train_64
Here’s a variant in SKI (SKI proto-oncogene) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Shprintzen-Goldberg syndrome
CCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGCTGTGGATGG
CCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCTCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGCTGTGGATGG
Task1_train_65
A variant affecting Chromosome 1, within the gene SKI (SKI proto-oncogene), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection
CCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGCTGTGGATGG
CCCCCGGCCCGTGGGGCATGTCCCTCCGCCTCAGGCGAGCACAGACCGAGCCCTGCCCCTCCCCAAACACACCATTGCGTCCCTGCGCCCGCAGGCCTCGCTGGAAGCTGCCTCCCCTGGAGACCACCCGGCCGACTGTCCAACTTCGGGGCCCCGGGCTTCCCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCTCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGCTGTGGATGG
Task1_train_66
A change on Chromosome 1 affects gene SKI (SKI proto-oncogene). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Shprintzen-Goldberg syndrome
CCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGCTGTGGATGGAAGCGAGGGACTGTCGCCTCTGCTCGGAGGGGGCTGCGGAGGGTGCATGTGTGTGTGCATGTGTGTGTTTGTGTGTGCGCGCTTCTGACCCTGCCAGGCCAGGGCTCAGGTGGCAGCCGCCTGCAGACCTGTGGGCTGGGGAAGGATGCTCGTGGCAGAGCT
CCGCTCCCCGCCCTGCCAAGGCTTGAGTCTCTCCCACTGCGTGGCCAGGCGTGGAGGGCCGGCCGATCCGACCCCGAAAGACGTCTCAGCGCTCCACGGCCCCGGGGCGGAGGTCAGGGGTCTCGCCGGCCCGAACGCCGGGCCCCGCGGGGCCGAAGTCCTGATAAGCCACCTGGCAGGAGTGGCTGGCAGACCGGCTGCGTCTGGGGCACCGGGCGCCGCCCCTCCCAGGCCCGAAGCCCCCGGCCCGCGCAGCAGGGACACTCCGCCAGGGGCCGGCGGGCGGGGCGGGGCCGGCGCGGCCGGGAGCCGCGGACACTCGGCCACCGAGCCACCGGCCACGGCGCAGCGGGGGCCGCCGGGCTGCGCCGCCAGGGTCACGCGACGCGGTGCCCGTCTCGGCGCAGGGTCCCTGGGCGTGGCCGCTGTCCCCCTCGTGTGTGGGACCCCAGGTCACCGTGTGGCGTCCCGGTAGTGTGTGGGACCCCAGAGGCGTCCGGGGCCTCCCCGCTGTGTGGTGTCCCACCCTGGGAGAACCCCGGGTGCGTGGCGTGGCCCCCCGGCCGCCCCCAGCTGGTTTGCGGTCGTGGCGGGGGCCTGTGGGTTTCTGGGCCCCGACGGCGGCGAGACGGGCGCCTTCCCAGCGGCGCAGGAAGCGGCCTCGGCCGGAAGGGGGGCCCCGGGCGCCACCGCCGCCTCCGCCTCCGCCCGCGCCCAGCGGCCCTCGGCGGGCGGGGCCGAGCGGGGCCGAGCGGAGTCGAGCATGGCCGAGCGTAGCCGAGTCCCGGCCGAGCGGAGCCGAGTCATGGCAGGGCGGGTCCGAGCGTGGCCGAGTCCCGGGCGAGCGGAGCCGAGCGCGGCCGAGTCCGGGCGGGGAGCGCGCGTTCCTGGAAGAGCCCGGCTGGGGAGCGGGTCACATTCTTGGCCAGCGCTAGGGCTGAGGCGGACGCACGGCAACAAACAGCGCGGGGGGCGGGGCCGGCGCGGGGCGGAGCGGGCGGCGCGGGGCGGGGCGGCGCGGCGGCGGCGTGAGCTCAGCGCCGGGCGCTCAGTCCGAGCCGGAGCGAGCCGCCGGGAGGATGTGCGCCGAGCGCCCCGAGCCCCGCGCCGCCGCCGCGCTCTGAGGGCCGCGGGCGAGAGGCGCCTCCGCCGCCCCGGAAGCCGGGCGGGCGGGCCGCGGAGCCGGCGGGCGGGCGGGCCGGGGGCCGGCGGCGGGCGCGACGCGGCCGGCCAGCGCCGCCGGGACGAGCCGGGCGGGCGCCTCGCGGTGGGAGGAGCGGGGCGGCGGCGGCGCGCCGCGCGAGGACGGCCCGGCGGGCCCCGCGCCCGCGCCCCCGCTCCTCCCGGGCCCCTCGGCCTCGGCCGCCGCGGCGATTCGCGCCTCGCGGCGCCGGCACCTGCCCGCGCGCCCCCCGCGAGCCCCGGGCCCGCGAGCGTTGGCGTTGGCGTTGGCGGCGCGCGCCGGGGCATGCCCCGCGCCTAGAGCCCGGGGGGCGCGCGGGGGACGCGCGGGGGGCCCGGGCGGCGGCGGGCGCGGCGCGGGGCGCGTGGATGTGGCGCCGGGCCCGGGCGGCGGCGGGCTCCAGCGGCGGGACCCCTTCGCCCCGCCCGCCTTCCCCTTCGCGCCCCCGGGCGAGGCCGCGGCCGTGATCGGCCGTGAGCCGGCGGCGGGGGGCGGCCGGGGTCGGGGCCGCGGGCGCCGCCGGGGCGCGCGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGTCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGTGAGTGGCCCCAGGCCTGGGAGCTGGGGAGGATGCGCTTGGGGTGGGGGCCCCTTCTGGACTACAGGCTCTGGTCTCCGAAGGCTGGGACCTGTGCTTCTGCCGTGCCCCATGTCTCCAGTCTTCGCTTTGTTTTAGGGAAATTCAGAGTGTTCCGACTGGCAGGGCCAGAGAGTTTGGTAGGAAGGCCCTCCTGCCCGTTCCCCAGGACGAGCCTGGAGTGCGGGCTGTGGCGGTGGGGTGGGGGGCCAGGCCTGGTGTGTGGGGAAGGCCCGCAGGCCCACAGGCATTGCCCAGATAGGAAGGCACAGGCCTCATGCTCCCGAGAAAGCGGCCTGCCCCAGGTCAGGGAAGTTAGGTCCAGCTGGGCCACGGCCCGGATGCCTCAGGCCCAGGTCTTTCTTGGGGTTGGGGTGAAGGTGGCTGTCCTCGCCCCGAAGGCACCCAGCCTCGAAGACGGAGGGCTGCCTGCCTTTGGGCCCCAGGAGACAGAGCTTGGGTGAGGCGAGGCCTGGTTTTGTTACTGGCTCCCGCTCCCTGTTTGGTGCCTTGAAGTTTTGGGACACAGACACAAAATGAAGCCAGGTGTCCAGGCTTCAGTGGCAGGGGCCCGAGACTTGGCGGCTCCAGCACTGTGCTGGTTGGTCTCCCTGGGCCTGCCAGGGACCAAATCCCAGAGTCCGCCGTGTGGGGTGAGGGCCATTTGGCACCCGGCTGAGGGGCCTGGTCAGCAGGCTCCTGGGCCCGCGTGCTGGAGTTACTGGCGGCCTGCGATTTGCTTTGGACTCACCCATTTCCTTCTCTCCCTCTGAAACGCAGAGGGGTGCGCCGGAGAGGGAGGCTGCTGGCCTGGCTTTGTTGTTTGCCAGTTGGAGGATCTATGGGATCCGGCATGGGCAGCTCCCAGGCCACGAGGTGCCGAAATTACTCAGTGGGGTCCTCAGGAACTTTCCGTTGCGTACCTCCCCAAGTATTTGTAACTTTTCTTTTAAATATCCAGGCTTATTAAATTGCACACACAGAATGCTGCATTGGCTCAGCTATTCTTGGGAGGCCTAATTAATTCAGCTATTGCATCAAACTTTTTTTTTCTAAATCTGTGAATAGATGCTCCAGCCCGGTTTTCTCTGGGCGCCCCTCCAGCAGAGTGTCAGATCGTGGGGAGGAGGGGCTGTGGATGGAAGCGAGGGACTGTCGCCTCTGCTCGGAGGGGGCTGCGGAGGGTGCATGTGTGTGTGCATGTGTGTGTTTGTGTGTGCGCGCTTCTGACCCTGCCAGGCCAGGGCTCAGGTGGCAGCCGCCTGCAGACCTGTGGGCTGGGGAAGGATGCTCGTGGCAGAGCT
Task1_train_67
Consider this mutation in PEX10 (peroxisomal biogenesis factor 10) on Chromosome 1. Is this a benign change or a disease-causing variant?
Pathogenic; Peroxisome biogenesis disorder 6B
AAGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCA
AAGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGCTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCA
Task1_train_68
This variant lies on Chromosome 1 and affects the gene PEX10 (peroxisomal biogenesis factor 10). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Peroxisome biogenesis disorder 6A (Zellweger)
ACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACG
ACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGGACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACG
Task1_train_69
Consider a variant on Chromosome 1 in gene PEX10 (peroxisomal biogenesis factor 10). Determine its clinical classification and disease relevance.
Pathogenic; Peroxisome biogenesis disorder 6A (Zellweger)
TGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTCCTATCCT
TGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCGTGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTCCTATCCT
Task1_train_70
Consider this mutation in PEX10 (peroxisomal biogenesis factor 10) on Chromosome 1. Is this a benign change or a disease-causing variant?
Pathogenic; Peroxisome biogenesis disorder 6B
TGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTCCTATCCT
TGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCGTGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTCCTATCCT
Task1_train_71
A variant affecting Chromosome 1, within the gene PEX10 (peroxisomal biogenesis factor 10), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Peroxisome biogenesis disorder, complementation group 7
TGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTCCTATCCT
TGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCGTGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTCCTATCCT
Task1_train_72
This gene mutation involves PEX10 (peroxisomal biogenesis factor 10) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
Pathogenic; Peroxisome biogenesis disorder
TGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTCCTATCCT
TGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCGTGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTCCTATCCT
Task1_train_73
A variant has been detected on Chromosome 1 in PEX10 (peroxisomal biogenesis factor 10). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Peroxisome biogenesis disorder, complementation group 7
GAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCATGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTCCTATCCTG
GAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGACCACAGTCCTCCCCCAGTTGTCTAGGCCCAGATCCAGTCCCACCCCTTCCATGAAGCCAACACTCACTCCCTGGCCTCCCTCTCTGCTTCTGTCTCCGGAGGCACCACCTTGACTTGCCTTAGCGTGAGCTGCAGACAGTCTGCGAAGAATCTCCCACCTGTGCTCATCTCTTGCTCCGGGATTCCCCTGAGCAACTGTTCTAGGGCCTATGAGGGCCACATGGAAAGATGGTCTGGGGTATTAAGATTACAGGCCAGAGGCCAACTGTCTAGCATCAAAAAGCAGCTCTCCAACTTGCTGGCTGTGAGGTCTTTCTGGAATCTCAATTTGCTCATCTATCAGAAGAGTAATAAGTCCTACTTGGAGGGATGTTTGAAGATTCAATATTTGTAAAACACTGGGAACAGTGTCTGGCACAGGGGTAAGTGCCAAGTGTACTGTAAAACAAGTAAGTACACACACAAAAAATTCTCATCATGTCACTCTCCTGTTCAGAATCCACCAATGGCTGCCCACCTGACACCCATGGGCCTCCCGGCACGGAGCCTGGCTGTCCTCTGATATTTACCCATGCTCTTCCTGTCCCATGGCACTGTTCCTTTGGCCACGACACCCCCACCACTGGGCTCTAGTGCCACTGCTCCCTGAAACGTTCTGCTGGGAGTTCATGCCTTTAACGACTGCCTGCCCCACCCCCCAAAGACTTGATGGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCACGCGCCACCACGCCCTGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTGTAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCATCTTTTTTTTTTCGTTTTTTAATCGGTGATGGGGTCTGGCCCCGTCGCCCAGGCTGGAGTGCAGCGGCACAATCATGGCTCACTGCAGCCTCATCCCTCGGGCTCAGGCGATTCTCTTGCCTCAGCCTCCTGAAGAGCTGGGATTACAGACGCCGCCACCACGTCCGGCTAATTTTCAGATTTTTTGTAGAGACGGGGTCTTGCCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCTGCCTCCCAAACTGCTGGGATGACAGGTGCTGCTTCATTGAGTACACTGGCTTCTGTACTCAGCTCCCGGCCTGGTGAGGCAGGCAGGGCCTGGCTGAGCCTACACTGGGGTCAGCAGGGCGAGGGGCCTGGGCTGCTGCTCAGGCCTAGGAAAGGCCGGGGTCAGTGTGAACCGGACCGAGGTATGAGGCGTTCGCGCCGCGGGCGCTCTGACCCCTCTGCTCACAGGGGAGGATCGGAGGGAGGCTTGAAGCACTTGCCAAGGCCTCACACCTGGAGGGGACAGAGTCTTCCCCAGCCGCTGGCGTCAGCTGGACCTGCCCTGAGCTGGGGACGGGAAGGGCTTGGGCGGGAACTGGAGGCCCACGCAGGTCCCCCGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCACCTGGCCAGGGAGGGCAGGAGGTGCCCCGCACATCCCTGAATGGCCGCAGGGCAGGCGAAGGAGACTGCCGGGTCCCAGGTTGTGGGACGGGCCCAGGCGACCGTGACCACACACGGCAGACACCCCGCCTCCATGAGGGGCAACACCCCCTGGGCCGCTCGCGAGGACGTCCGGCCGCGCCCGGCCCTCACCCGCCAGGCTGTGCAGGGCGCCGCCCGCCGCGCTCCGCAGCCCACCGCGGTAGTACTCGTCCTTCTGCGCCGCGCGGATCACCTCCGGGGGGCTGGCGGCGGCCGGGGCCAAGGCCGCGGGTTCGGGTGGTCCCGAGCAGCCACGCCGGCCACGCCCACGCCCAGACGGGCGAGAACTGATGACGGCACGACGTGGCTCTGCGTGCGGCGCAGACCTCTGCGTCAAGGTGCTGGGGCGGGGCCGGACTGGGGCTGGAGGCGGGGCCAGGGCCCGGGCGGAAGCGGGGCTGGAGTCCGAACCAGCGCAGCGCGGGGCGGGGCAGCGGGAAGGTAGTCGGAGGCGCAGGGCGGAGCGGAGCGGGGCGGGGCCCGCGAGCCGAGGTGGGGGCGGGGCACGCGCGAGGGGCGCTGGCGAGGCAGCGGGATGGGCTCGCGGCCGCGTGGTTGCTGCGACCTCGGGGTCCTACGCTGCCAGGGGCCCCTGCTCTGCTCCCTGCACGTCCACGGGCCGCCCTCCCACTGGGGACAGCGCTGCGGAGTGGAGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGGCTTTCGCTTGGGTCTTCGGGAAGCCGAGCTCCCAGCGCCGGCCGCGGCGGTCCCGCCCTCGCGCCCTTTGAGCTGCGCGGGCTCTCAGCGCGGGTTGGCCAGTTCCGGGGAGCCGGTCGGTTTGGGGGCCAGAGGGGCACGAGGCGAGACCCGGGACCTTCCAGGCCCCGAGCAGCCGCCTTCCCCAGTAATCCTGCGCGAAAAGCACACGGCCGGCTTGGTGTGGACGCCCCCCTGGTGCCCACGGGAGGCAGGGCCTGGCGGGTGGGGGGCAGCCGGGAAGCCGCCGCGTGGTTCCAGGACGGGCGGAAGGTGGCCTTCCACCCTCCACCCTCCACCCTGCCTGGCCTGAGCCCCGCAGGTGCTCTGGGGAACCACATCGCAGGCGCTCCGATCCCTCTGCTCCCAGGGGACGAGCGGAGGGAGGCCTGAAGCACTTGCCAAGGCCGCACACCTGGAGGGGACAGAACCTTCCCCAGCCGCTGGCCACAGCTGGACCTGCCCTGAGCTGGGGGTGGGAAGGGCTGGGGCGGGAACTGGAGGCCCACGCAGGTCGCCTGCGGTGTCTGCGGCCTGTGCCTCTGGGGCCGCCTGGCCAGGGAGGGCAGGAGATGCCTGGTACATACCTGAATGGCTGCAGGGCAGGTGAAGGAGAAGGCCCTGTTTTTTGGCCCCAAGGGCAGCACTTGGCCCTGGAGAGTCCTGCAGGATTGCAGGAGGAAGGCAGGGCACGACAAGGGGGCGTCTGCGCCCCGCTGACCTCAGTGGGGAGGGCCTCCAGTTCCTTGCCTCACCTCTGGTTCCATCTACAGGAGCTCAGCTGTGGGATCATCCCCAGACTGGCACAGCCCAGTCACAAAGCCAGAGCCCCACACTGCAGGAATGGCCCCTCTTACAGGGAAGGGGCATGGCCTGGGTGGCCCCGCCCCGCAGGCCCTCTGGCTACCAAACCTCCCAGCGCCCCCGCGCCCCTTTGGAGTTCTGACCCCGCGGGTGCACCCGTGTCTCCTGGACACAGAGGCTGCCCTCTGATTGGGTTGAGCACCTTGGGCTGAACCCCTCATCCGTGGACCAGGCAACCCGGCATCGCCCACGTGGAGCCGCTGAGGTGATCATGTGTTCTGGTCAATGCTTAGATAACAGTTTGAGATGCCGCTCTGGCCCCTGGGTTCATGGCTCCACGTCTGATTCTGAGGAGGAGGCTTCGGCTCCTTTGGATTCACACTGGGTTCTATGATGGGCCCCTGACGGGAGGGCCTGCTCTAGGAGGCATCCCCCACCGCTGTCCTGGCTCAGGACTGCTTTCCCCACTCTTCTCATCTGCACCCTGGGCGACAAATCCCAGCCTCACAGTGGGAGGGGCCTGGGCAGGACCTGAAACAAAGTGTCCCAGTGTCTGCTGTTCCTGGGCAGGTGGGGCTTGGGGGTCCCCCACGGTTCAAGCCTTGGCTCTAGGCCTTGGCTGGGCCTTGTAATGGCACCCGCGACCCTCAGTTGCCTCACTCATTGGGGCTTCGAAGGCCTCTGGTGCCCCGAGGGTCCTTCCTGAGGGCGACTTGAATACGGCGGTCCTATCCTG
Task1_train_74
A sequence alteration has been identified in PRDM16 (PR/SET domain 16) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Cardiomyopathy, dilated, 1LL
GGCCCCTCGGCCCCCGCATCCGGCGAGGAGCAGCCGCTGGACCTGAGCATCGGCAGCCGGGCCCGTGCCAGCCAAAACGGCGGCGGGCGGGAGCCCCGCAAGAACCACGTCTATGGGGAACGCAAGCTGGGCGCCGGCGAGGGGCTGCCCCAGGTGTGCCCGGCGCGGATGCCCCAGCAGCCCCCGCTCCACTACGCCAAGCCCTCGCCCTTCTTCATGGACCCCATCTACAGGTATTCAGCACCCCAGCCTCACTGGCTCTCCCTGGGGCGGGGCCGCGGCGGTGCTGGGCGGGCTCAGTGCATGGTGGTGTCTCTTTCAAGCTCCTCCAAGGTCGTCCCCCGGCCTTTGCTGACTTCAGGAAGATGCCCCTGTTCTTGGGGGGGTCTGCACCCCTCAGGAGGGATGCCTGGCTTGGCTGCTCCTAAGCTAGGTGCCTGGCCCGGGCCGTGTTTGGGAGGCCAGGACGGGTGCTCCTGGACACGTGCAGTTTGCTTGCACCGATGACCACTCAGACATCACACTGCTGGCCTCGAGCGCCTCCTATCCCCAGTAACCCCACCCCCCACCCCAACCCACACCCTTCCCCACCCCTCTCTCCAGCTGTCGTCTCTGGTCTAGCTCTCCCCAGCCTCTACCTGCAGAAGTCAGAGGGGCCTGGGCTGAGTGCTTCCTGCCCCTCCTGGTGCGCTCCTGCCCCTGGAGCCACAGCGGCAGGGGGAATGGGGAGGGGGTGTCTTTCTGGGGGCCCCGGGGGAATCAGAGAAGGAGCCAGTGGTCCTTGGAGGGGAGGAGGAGGCGAGGGATGAAGCAAGCATTGGAGGGTTTTCTAGGCACCAGTGTCCTGTGTCTCTGATGCCTCTCTTGGGGAAAGGCGAGTTTAATGCCACTCCCTAATTTCTGGACAGGTTTGCCCCTCCCTAGAATGCAGGTGGGTTGGAAGAGCAGGGCTAGGCTTGGGGAGGGGGTCCTACCCCCACCAGCACCTGTCCCTGTGCTCCCCGCTTCGCCATGCAAGGAGACAGGCAGGAGACCCTGAGCAAGTCCTGTCCTAATAAAGCAAAAGCGGCCAGTCATAGACATGCTGGGGGTGCTGTGTCTTGCAACGGGGTGGCAGGTTTACCAAAGCGCTCTCAGTGATGGGAAAGAGGCTCCCAAATCTAACCCTCACTATGGGAACCCAGGCAGACAGAGAAGAGCAGGCTGCCTTCAAGAGCCACCAGGCCAAAGGAGGGTCAGTGGATAGCCCTGCCCACGGCCTCTGTTTACCACAGGAGGTTTGCATTGTGATTCAGTGAGCAGGCTTGTCACCGGCATCTGGGGAAGGTTCTGGAACTGTAATCTCCAGCAGCCCTGGAGGGTGTTTAGACAGGGCCCTGTCTGGGTGCTGCAGGAAGCCCCTGGTGACCTCCCCAGGACAGAAACCTGCTGGCCACTCACGTTCATCAGCACACACGGGCAGCACACCCCGTGCCAGGGGCCGGGTCAGAGAAGGAGCGGAGGAGGCCTTGAGCCTCTGGTGTGAGCCACGCTCTGCTGTGAGCAGGTCCAGGGACCCCCTTCAGAGTGGTCCCCACTCATGCAGGGCTGACCGGCCAGTTAGGCCGGGGTGCACGGGGCCTTCAGAGAAAACTCCAGCCGCCTGCACTTAGCACCCATGACCTGCAGGGGTGCTGGCAGCCAGGGGTCTTTGAAGGCCCTCGAGGGGACCTTGGAGGCATGGGAGGTGTGAGGGAACCACTGAGGGAGAGTGTTCAGGGGCAGGTGGTGACAGGGAGGGTCCGTCTAGGGGTGCAGGTGGGCTGGGCTCCCGACATCCCCAAGGCCCACAGAGGAGTCTGGTGAGCGTTGGGGCAGCCACGGCGAGGTCCACACCATGGCCTTGTGACTGGCCAGGTATATGGTCAGGCGGGGTGGGCGGCTCTGTGGAGCGGGTGGCTCGGCGGGGCGGGCGGCTCGGTGGGGTACGTAACCCTCTGTGCTGTTGTCCAGCAGGGTAGAAAAGCGGAAGGTCACAGACCCCGTGGGAGCCCTGAAGGAGAAGTACCTGCGGCCGTCCCCGCTGCTCTTCCACCCCCAGGTACGTCCTCAGTGCAGGTCAGGGCGCCCTGTAACCCACACGCCAGTGGCCCCATCTCCCGGCTGTCGAGGCTCAGTGGCCAGGCTGGAGCCTAAGTCCCCGTCCAGGCCATACCACGCACAGACGCCCTCAAAGGCAGAGGAGGATTCTCTCCCTGAGGCCCCTCAGGTCACTGTAGGCTGGAGAGGTTGAGGACTGAGAGTGACCCTCACAGGGCCACCCCAGGGACCTCTCTGACCCCTGGCTCTGGGCTCCAGGAGGGAGAAGGAGCTTCACTGGAGTCGTGGGCAGAGCCTGAAGGAGCGAGGGCAGGGATTGTGAGTGAGGGGAGCAGCCTCAGGTGGCAGCCCAGGACACAGCGTGGGCGCTCTCTCTGGGGTGCACAGGACCTGAGTATGTTCAAATGGACCGGAAGAGAGGAAGGGCCTGAGCATGCAGAGAGGGGCATGGAGCCAGGCCCCAGGGAGGTGGTGGGCAGGGGGTCTGGAAAGAGACCCAGAGAGCCCCCCAGTCCAGACAGGTGGGTGCAGACCCTGCCAGGCCTGGAGGTGCTCCTGCCTGCCCCTGAGGCCACATCCTGGGAGCAAAATAGCAGGTGGGCAGCATGGCCAGGGCAGAGTCTTCCCGACCTCCTGTCCCCTACTGACTTGGTCTCATTGCTGGGAGCCTGGCCCCTTCCGCAGCGCCATGGGCTGCACCTGGAGGGTCCTGAGGGTCGCACAGTGGGCCTGGCCCTGACAGACTGCAGACCAGACCGGGGCATTGTTCTCTTTCTCGGCCTTCCCCGCCGTGGACGGGCCCCCCACCTGGTTTGTGAAACCTGCGCCCAGGCTGAGTTCACAGCTAAACTTAGCGCCTCCCATTGTTTCCCCGGGGCCGTGGAGTTTGGTTAATAACTTCCCCTGATTTTCCTCGGGATGGGCTGGAAAGAGCCACGAGCCAGCCAGGCGCATCCTGCGTTTGTTTGTGCGGGGAGCGAGGCCGGGAATATCTGATCGGGCGGAGCAAGCCGGGCGGGAGAGGCCCACCCAGGCCCGAGGAAGGGAGCCCAGCGGGGGGCAGTTTCCATTGTCCCTCCTGCCCGCTGCCCCCACGGGCCTGCCACCCCCGCTGCCTGTCCCTGCAGCCCGGAGCCAGGAGGTGGGGGGCGGGAAGAGAGAGATGACTAATAAGTCACCAAATGGTCTAAGGTTGGGCTGTCACTTGGGCAGAAGGCGCCAGTTACTAAAGACCTCGACAAAGCCCAAGAGGCCATGCCTGTGGAAAGACCTCAGCCCTGCTGCTCCGGGCTGCGGAGGGGCTGGTGAGGCCCAGTTGATGGCTCAGGGAGCAAGGCAGCTTCCATCTGCCCATCGCTCATCACTCGTTCTCATCAGGATGAGAGCATGCCTGCCTCGCAGGGGCGGGAGAAGCCTGACCCCCACAGCCTGGGTGGGGCTGGAAGGGGCCAGAGGGGAGGCCTTGGCCACTGTGGACGGACACGAGTTTCTACTCGTTCGTTTCTTTCTGGGTATTTTTATCGTAACCAGTTCCCCAAATAGCAAAACGTCCCCACCACTGGCTCATGTGGTCTCTGGGAAGCATTTGTAGAAAGCCCTCTGCTCCCTACCAGCAGCAGCTGGATAAGTCCCTGGCAAGCAGGTCTCCGAAAAGCTGAGTGCCAGATGCCCGGCACTCGGACTCTGAGAGACCCCAGCCGCGTGATGGGATAGTTTTGTTTGCTAGTGGGCAGCCAGGGCTAGGGTCTTGCTGTAAATGGGCGGGTCACCTCTGTGGAGCTGGCTCTGAGCATTGCCCAGAGGCAGCGAGCCCTATATGAAGCCCCTTGATGACGCAGGTCCTCACCTGCCCTTCTCCTCACCCCCACACCCATTCCGTGGAGGCTGGGTGCCAAGGACCGGCACCCTGGCCAGTTCCTCCCAGTGACACCAGCACCTGGGGAACCCCAAGCTCTCCCTTCCCTCTGCATCTGTATCAGCTCCTGCCTCACCCTTGCCCTCCCTCCTCATCCCCTTC
GGCCCCTCGGCCCCCGCATCCGGCGAGGAGCAGCCGCTGGACCTGAGCATCGGCAGCCGGGCCCGTGCCAGCCAAAACGGCGGCGGGCGGGAGCCCCGCAAGAACCACGTCTATGGGGAACGCAAGCTGGGCGCCGGCGAGGGGCTGCCCCAGGTGTGCCCGGCGCGGATGCCCCAGCAGCCCCCGCTCCACTACGCCAAGCCCTCGCCCTTCTTCATGGACCCCATCTACAGGTATTCAGCACCCCAGCCTCACTGGCTCTCCCTGGGGCGGGGCCGCGGCGGTGCTGGGCGGGCTCAGTGCATGGTGGTGTCTCTTTCAAGCTCCTCCAAGGTCGTCCCCCGGCCTTTGCTGACTTCAGGAAGATGCCCCTGTTCTTGGGGGGGTCTGCACCCCTCAGGAGGGATGCCTGGCTTGGCTGCTCCTAAGCTAGGTGCCTGGCCCGGGCCGTGTTTGGGAGGCCAGGACGGGTGCTCCTGGACACGTGCAGTTTGCTTGCACCGATGACCACTCAGACATCACACTGCTGGCCTCGAGCGCCTCCTATCCCCAGTAACCCCACCCCCCACCCCAACCCACACCCTTCCCCACCCCTCTCTCCAGCTGTCGTCTCTGGTCTAGCTCTCCCCAGCCTCTACCTGCAGAAGTCAGAGGGGCCTGGGCTGAGTGCTTCCTGCCCCTCCTGGTGCGCTCCTGCCCCTGGAGCCACAGCGGCAGGGGGAATGGGGAGGGGGTGTCTTTCTGGGGGCCCCGGGGGAATCAGAGAAGGAGCCAGTGGTCCTTGGAGGGGAGGAGGAGGCGAGGGATGAAGCAAGCATTGGAGGGTTTTCTAGGCACCAGTGTCCTGTGTCTCTGATGCCTCTCTTGGGGAAAGGCGAGTTTAATGCCACTCCCTAATTTCTGGACAGGTTTGCCCCTCCCTAGAATGCAGGTGGGTTGGAAGAGCAGGGCTAGGCTTGGGGAGGGGGTCCTACCCCCACCAGCACCTGTCCCTGTGCTCCCCGCTTCGCCATGCAAGGAGACAGGCAGGAGACCCTGAGCAAGTCCTGTCCTAATAAAGCAAAAGCGGCCAGTCATAGACATGCTGGGGGTGCTGTGTCTTGCAACGGGGTGGCAGGTTTACCAAAGCGCTCTCAGTGATGGGAAAGAGGCTCCCAAATCTAACCCTCACTATGGGAACCCAGGCAGACAGAGAAGAGCAGGCTGCCTTCAAGAGCCACCAGGCCAAAGGAGGGTCAGTGGATAGCCCTGCCCACGGCCTCTGTTTACCACAGGAGGTTTGCATTGTGATTCAGTGAGCAGGCTTGTCACCGGCATCTGGGGAAGGTTCTGGAACTGTAATCTCCAGCAGCCCTGGAGGGTGTTTAGACAGGGCCCTGTCTGGGTGCTGCAGGAAGCCCCTGGTGACCTCCCCAGGACAGAAACCTGCTGGCCACTCACGTTCATCAGCACACACGGGCAGCACACCCCGTGCCAGGGGCCGGGTCAGAGAAGGAGCGGAGGAGGCCTTGAGCCTCTGGTGTGAGCCACGCTCTGCTGTGAGCAGGTCCAGGGACCCCCTTCAGAGTGGTCCCCACTCATGCAGGGCTGACCGGCCAGTTAGGCCGGGGTGCACGGGGCCTTCAGAGAAAACTCCAGCCGCCTGCACTTAGCACCCATGACCTGCAGGGGTGCTGGCAGCCAGGGGTCTTTGAAGGCCCTCGAGGGGACCTTGGAGGCATGGGAGGTGTGAGGGAACCACTGAGGGAGAGTGTTCAGGGGCAGGTGGTGACAGGGAGGGTCCGTCTAGGGGTGCAGGTGGGCTGGGCTCCCGACATCCCCAAGGCCCACAGAGGAGTCTGGTGAGCGTTGGGGCAGCCACGGCGAGGTCCACACCATGGCCTTGTGACTGGCCAGGTATATGGTCAGGCGGGGTGGGCGGCTCTGTGGAGCGGGTGGCTCGGCGGGGCGGGCGGCTCGGTGGGGTACGTAACCCTCTGTGCTGTTGTCCAGCAGGGTAGAAAAGCGGAAGGTCACAGACCCCGTGGGAGCCCTGAAGGAGAAGTACCCGCGGCCGTCCCCGCTGCTCTTCCACCCCCAGGTACGTCCTCAGTGCAGGTCAGGGCGCCCTGTAACCCACACGCCAGTGGCCCCATCTCCCGGCTGTCGAGGCTCAGTGGCCAGGCTGGAGCCTAAGTCCCCGTCCAGGCCATACCACGCACAGACGCCCTCAAAGGCAGAGGAGGATTCTCTCCCTGAGGCCCCTCAGGTCACTGTAGGCTGGAGAGGTTGAGGACTGAGAGTGACCCTCACAGGGCCACCCCAGGGACCTCTCTGACCCCTGGCTCTGGGCTCCAGGAGGGAGAAGGAGCTTCACTGGAGTCGTGGGCAGAGCCTGAAGGAGCGAGGGCAGGGATTGTGAGTGAGGGGAGCAGCCTCAGGTGGCAGCCCAGGACACAGCGTGGGCGCTCTCTCTGGGGTGCACAGGACCTGAGTATGTTCAAATGGACCGGAAGAGAGGAAGGGCCTGAGCATGCAGAGAGGGGCATGGAGCCAGGCCCCAGGGAGGTGGTGGGCAGGGGGTCTGGAAAGAGACCCAGAGAGCCCCCCAGTCCAGACAGGTGGGTGCAGACCCTGCCAGGCCTGGAGGTGCTCCTGCCTGCCCCTGAGGCCACATCCTGGGAGCAAAATAGCAGGTGGGCAGCATGGCCAGGGCAGAGTCTTCCCGACCTCCTGTCCCCTACTGACTTGGTCTCATTGCTGGGAGCCTGGCCCCTTCCGCAGCGCCATGGGCTGCACCTGGAGGGTCCTGAGGGTCGCACAGTGGGCCTGGCCCTGACAGACTGCAGACCAGACCGGGGCATTGTTCTCTTTCTCGGCCTTCCCCGCCGTGGACGGGCCCCCCACCTGGTTTGTGAAACCTGCGCCCAGGCTGAGTTCACAGCTAAACTTAGCGCCTCCCATTGTTTCCCCGGGGCCGTGGAGTTTGGTTAATAACTTCCCCTGATTTTCCTCGGGATGGGCTGGAAAGAGCCACGAGCCAGCCAGGCGCATCCTGCGTTTGTTTGTGCGGGGAGCGAGGCCGGGAATATCTGATCGGGCGGAGCAAGCCGGGCGGGAGAGGCCCACCCAGGCCCGAGGAAGGGAGCCCAGCGGGGGGCAGTTTCCATTGTCCCTCCTGCCCGCTGCCCCCACGGGCCTGCCACCCCCGCTGCCTGTCCCTGCAGCCCGGAGCCAGGAGGTGGGGGGCGGGAAGAGAGAGATGACTAATAAGTCACCAAATGGTCTAAGGTTGGGCTGTCACTTGGGCAGAAGGCGCCAGTTACTAAAGACCTCGACAAAGCCCAAGAGGCCATGCCTGTGGAAAGACCTCAGCCCTGCTGCTCCGGGCTGCGGAGGGGCTGGTGAGGCCCAGTTGATGGCTCAGGGAGCAAGGCAGCTTCCATCTGCCCATCGCTCATCACTCGTTCTCATCAGGATGAGAGCATGCCTGCCTCGCAGGGGCGGGAGAAGCCTGACCCCCACAGCCTGGGTGGGGCTGGAAGGGGCCAGAGGGGAGGCCTTGGCCACTGTGGACGGACACGAGTTTCTACTCGTTCGTTTCTTTCTGGGTATTTTTATCGTAACCAGTTCCCCAAATAGCAAAACGTCCCCACCACTGGCTCATGTGGTCTCTGGGAAGCATTTGTAGAAAGCCCTCTGCTCCCTACCAGCAGCAGCTGGATAAGTCCCTGGCAAGCAGGTCTCCGAAAAGCTGAGTGCCAGATGCCCGGCACTCGGACTCTGAGAGACCCCAGCCGCGTGATGGGATAGTTTTGTTTGCTAGTGGGCAGCCAGGGCTAGGGTCTTGCTGTAAATGGGCGGGTCACCTCTGTGGAGCTGGCTCTGAGCATTGCCCAGAGGCAGCGAGCCCTATATGAAGCCCCTTGATGACGCAGGTCCTCACCTGCCCTTCTCCTCACCCCCACACCCATTCCGTGGAGGCTGGGTGCCAAGGACCGGCACCCTGGCCAGTTCCTCCCAGTGACACCAGCACCTGGGGAACCCCAAGCTCTCCCTTCCCTCTGCATCTGTATCAGCTCCTGCCTCACCCTTGCCCTCCCTCCTCATCCCCTTC
Task1_train_75
Assess the clinical impact of this variant on gene NPHP4 (nephrocystin 4), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Nephronophthisis 4
ACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAAAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTTAGTAGCAAAATATTAAAAGTTCTATTTAGATTTTCAGCCAAAAAGGGGAATTTTTCTAGCCAGAATGATTACATTGACAACCCAGGATATGTCAGTTGTTCACAGCTCTGGTCCCCAGACCTGGGAGAGCCTCAGAATCACCTGCAAAGCTTTCTTCAAACCCAGGCTCCAGGGGTCCTGCCCACACCAATCAGTATCAGAATCTCCAGGGGTGACGCCCAAGAACTGGCTTTTATTAAAAGCTCTCCAGATAATTCTCACTTAAAGATTTCCCCCGGTGGCTGAAAAAGTCCGATTTTCTTATATTCTGTCCCCAGGATTTGGGAGG
ACCACACCACACACTCACACACCAGGGAATGCTCTGCGTGAGGCTCAAGGAGTGGCCGCAGGCTGTGGCAGCCACCACGGGAACTGCGGCTTCACACCCGGAGAGCCCTGGGCTGTGAGAAGGCGGCCACCAAGGAGGCATTTCCGACCAGATACCATGCAGGCTGTGCCAGCGCCCAGACGGAGCTGCCCTGCCCAGCGAGGACACGGAAAAGGCCATTCCCAGGCCCACGCCACCCCTGCCCTGACCTGGCCCCAGCCCTCCCCTCCAGGAGGGGAGAGAAGGACACAAGGGTCAGGCCCTGGGAATACCCAGGAAGCCCCGAGATCAGTTTGTCCTCCGTTGCCCCTTTACCTTGGCGTGTTTAGTGGGCACTGCGCTGGACTTCCAAGGTGACACGGCGTCCATGCCCTTCTCGTTGCTCAACCCAGGAGAGGCCTGCAGGAACCGAACAGCACAAGCAGGTCAGGAAGCAACACCATTAGGCGACCAGCACCTGTGCTTAGAGACACCACTGCCACCCAGCTGGGAGCCACCAGCCTCCTCTCACACTGACTCTCCAGGCAGCAACCATCACCAACCGGCCTCACTGTGCCAGAGAAGGCTGAGGCTGCCAGGAACAAAGGGAACAGCAGATCCCAGGTGGAAACCCGGCTCTGCCTGAAGCCAAAGGCCTGAGGTCCCACCTGCAGTCCTCACAGCCCATCCCAAGAGCCAGCATGGCATCCTGTGAGTGAGCCTCTAGGGACATCTCAAGTCCACCTTAAGCGATGACCACCACCCTAGAGAGCTGACCCCAAAAGGTCAAAAGCTGAAACACACACTCCACACCCCATGCCGGCCTCACGCACCCGGGCATGACACACCCCCTGCAGGCACACCTCACACACCACCCCCTGCACACAAGTGCACACCTGCACACACACCTCACATACTCCCTGCACACACACAACTGCATGTCTGCACACACCTCACACACTCCCTGCACATCTCACAGACCCCTACACGCACAACTCCTGCACGCGTGCCTCACACACACCCTGCATACATGCCTCCTGCACACACACCTCACATATCGCCCCTGCACACACACCTCACATACATCCTGCACACATACCTCTTGCACATATACCTGCTGCACGCACGCTCCCTGCACACATGCTCCCTGCACGCATGCTCCCCGCACACATGCCTGCAAAGCTGCATCTTGCATAGAGCAGACAGTGCTGCAGTCGGAAGGGACCAAACAACATTAACTGGAAAGAAGATGCTAGAAAACGTCAATCCATTAGATTCACTGGGCTTTAAGAAGCCCTTCCAACCAACTTAGTAAAGAAAATTAGGAGGAGATGGTCCAGCTCGACACCCATCAGGCTGGAAAAGAGAAGGGGCTGGTTGCCACTTGCAGTGTACATGCCAGGGCTCTTGTTGAGCACCAAGGGGAGTGGGCGGCAGCCCCAAGGCTAGTCTGTCTGCACAGGTAAGGGAGGGACACTGGTGGAGACTGGAAGCATTCTCAATTTCCCACCGTCATCAGCCAAATGCAACTTCCCTGTGTGCCTGACACCCGCACCTGCACCATGGCCAGCTGCCCTGCAGAGAAGCTCTGGAACTTGAAGGGGACGTGGGCGGTCTCGTGGGGGCGCAGGTAGAGCTGGGGGGCCAGGCTGCCACGCAGGTGGAACATGTCCTCCTCCACCGGTGTGTGCAGGCCAGCAGCACCCTTGAAGTCCCTCCACTCCTGACTGTCCACGATGACGCTGGGGGAGGCAGTGTCCAGGCGTCAGGGCAGTTCTTCCCAGGAGGACCCACAGGAGGCTGCGGTCCCACCCACCGAGAGCGGTGCTCAGAGGAGTGGGAGAGAGAAGTCAAATCGCCCCGGCTCTCGGGCAGAATTCGAGCCAGCTCAGCAGGGGTGCCGGCTGCACCCGACACAGATCTGGGCTGGGGCAGGACGGGCACCACTGAGACCTCACCTGAGCTCGGGGTTGTCGATCTCCACAGTCACCGTGTGCTGTGTGTTGTGGGGGTTCTTAAGCACAAACTCAGAGAACTCGGCGACCCCCAGCGTGGCGTGGAGCGTGTGCTCCGTGGTGATGGCCAGGCTCAGCAGGCTGGCGATGCTCTCGGCCTTCGTGCGTTCCCGGTAGGCGGCGATGACCTGTAGGTCCCGCAAGTGCTGTGTGCGGACGCTCTGCTGCGCCTGCAGACAAGAGGACATGGGTGGACAGGGTCCCAGGCACACTCTCCTCCACAAGGGGCTATTGCTGGCTGCCCACCACCCGCGATCTCAGAAGAGGACATTTCTCCACAAGCATCGCCACCACCACCCCCTTCCTTGACCATGTGGTCTGGGTGGAACTGGCCGGCCCCGCCCAGGCATGGATCTCAGGCAGTGCTGGACAGAGATCTGCTGGCTGTGTCCCTGACACGGAGGTCCACACAGCATCCCTGCCTATTCCTGAGAGACTCTTCACAGACACGAGTCTGGCCCCCCGCACGGTGGAGAATCAGAAGTTTCAAACAAGAGAAAAGAATGGCCTCAAAACTATGGTGACAGGCCTCACCAGCCAGGTCCCCAACACAACTTTGGGAGCCCTGCCTGGGCCCAGCGTCCACAGGAGAGGACATGCCCCCGGCCTGCTGAGTCTCGGTCACACCGGGTCAGAGTCCAGGCAAGCAGCACGCTGCCTCAGCAAGGCTCAGCCACCCCCTTGCTCTGATGCCGCAGGGACTCAAGGGGCTTGGCCAGCACACATGGGTTCTACAGGTTGGAGACTGGCCTGTTTTTCCTGTGGGACTTACAAGAAAAAGTAAGGCCCACTAGAGGCTGCCTTGCAAGATCTCAGGCCTGGAAGGGGCCACCCCCATGCCGGGGAGTCAGCCAGCCTGCAGCTACTCCAAGAAGCCGCTGCGGCCGGGCGCTGGGAACCTTCTGTCTAACACAGAGGAGGCTGAGGCGTCAGAGAGATGGGCTGACTTCAGTGCTTTCAGGATTTAACTCAAAAGGTGAGGACAAAATTTGATTTCTGGCTTAAATGACTTTGGACATTCACTTTCCAACATCCAAGGCTCTGGCTGTTCCTTTGCAGGGGGATTGGAGCTGGCCTTTCACACTTGGGGCCTCCATCAGAATTTCATCCTCAGAGCTTTTCAGGAGTGGAACCTCTGACAGGCTGTGCTGGACGATGGGGCCAGACATGAGTTAGGATGAGAAACAGGGATAGGGCTGAGAGTGGCTCCTCAATTCCAAGCTTATGCTGACAGAGCTAAGGTTATCCAGGCTAGGGGCCTCCAGAGGCCACAGCTTCAAGCCCTGCCAGCTGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGTGGGGTGGGTGTCCTGAGGCCTGGGAGGAGGCCCCAGTCATGCCCTGGCCCTGCCCTGGCCTCCCTCTAGTCCCTCCCTCCTCCCTGACCACTGAGCCCACCAGTCCTGTGGGATCAGGCCAGGCCTCCTCACCCCGTGTCTTCTCACCATGCCTCTTCCTCGCCCCATCAGACTGAACTGAGCCTAGGGAGGGACCGAGGCGTCTGCATCCACCTTTGAGCACCAACGCCTTGCTGGCAGGGAGGCTGAGTGGCAGCCCTGCTGAGTTTACTGTCAGGAAAAGGGCCACCTCTGTTCAGACCCCGGCCTACCTACATGCAAGGGGGAATCTCAGGAGATCTTTCTCAAGGCCCCTGTGGTTCCCGACTTCTATGAACCCAGGAGGTACAACCATTCTCACCTCCCATTTCTTAGTAGCAAAATATTAAAAGTTCTATTTAGATTTTCAGCCAAAAAGGGGAATTTTTCTAGCCAGAATGATTACATTGACAACCCAGGATATGTCAGTTGTTCACAGCTCTGGTCCCCAGACCTGGGAGAGCCTCAGAATCACCTGCAAAGCTTTCTTCAAACCCAGGCTCCAGGGGTCCTGCCCACACCAATCAGTATCAGAATCTCCAGGGGTGACGCCCAAGAACTGGCTTTTATTAAAAGCTCTCCAGATAATTCTCACTTAAAGATTTCCCCCGGTGGCTGAAAAAGTCCGATTTTCTTATATTCTGTCCCCAGGATTTGGGAGG
Task1_train_76
Gene ESPN (espin) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Deafness, without vestibular involvement, autosomal dominant
GTGTCTTCCTCACCCAGCCACTCAGGGCAGAGATCATGCTTAGTGGCACCCCTCAAAGCTTCATCTCCCTGACTAGAAGTGCAGAGCAGAGCTAGTCCCCCTACGGTTCCTATGGAGCCCCAGCCCCTGCAGACCAGAGCCCATGTAAGCAAGTCCAGCACCTGCCGAACCTCCTTCTTCCCTCCACAGCCTGCAGCAGGGCTGAAGCTAAGGGCAGAGAAAAACATACTCTGGGCTTCCCGAGACACCCTCACCCAGCACAGCCAGGGCTGGGTGCCCTACCCCAACCCAGTGCCAAGGTGGAGGCCCTTGCTAGGGGCTAGAGCCAGTGGTGGCCCTGCCCAGCCCTCAGGGGCACCAGCCAAGCCAGGAACTCGATGGACCACCCTCATGGGGCCCCAGAGCAGCCTGAGCCAGGGTCAGATGGGCAGAAAAGCTCCTCCTCTCTTCTCCACTTCCCCCCCGCCCGCTCTCCCTGGCCCGCTCCCTGTCCCCTGCTGTCCCAGTCTCATCCTGCCCCCCCTCCCTCCTAACTCCGCTGTCACTTCTCTCCTCTTGGTCCCTAGAAGTGAGAGTCCTGAGGCACAGGAAGAGTGAGTAGCTGCGTGCGCGGCTCCTGGCTGAGGCTGAGGCGCGGGGTGGGGGGAAGAGGCAGGAAAAGCAAGGCAGAAGGGGCCCAGACTTGAGGAAAGGGCAGGGGCAGGGGCTGGCAGGCGAGAGAACCTCGAAGAATGGGTGGGGCCTTGCACCTCATACCTACCCTCATACCCACATATGCACCCAAGCATTCTGCACCTGGCTGATGGTTTTGCCTAAATAAATGAGCCAGCCACACCGATTTTCCCTTTCTCCTACTCTTCTCCCCCACCACCCCCACCCGCTGTGACTGCATTCTGGGATCCCCAGCCTGGGAATCCAAGAGCTGTCGGCCCATTTTATTCCTCCCTCCCAGACCTGACCCCTTCATCGGGGCTCAAGAGACCTCTCTCTCCAAATCTCCATTTGCCTCCTCTGGCTAAGCTGGAAAATGCACACTCTGCCCTGGGTGTTTCCATATTATCCGCCTGCCCTTCCTCCTGGGTGCCTCCCGTAGCCTTAGTAAGGGCTCTGCTTTCCTGGGCCCCTAGAGCTGAGCCATGCTTTGCCATAAAGGTGCTCCCGGCTTGCAACCAATGTGTCTGCTTGTGCATCTGTCTGTGGGTGTGGTGGGGAGGGAGGGGACCAGGTGGGTACTGGCACTCTGGGGTCCGGACTTTATGTCCATGGAGGCCCCAATTGACTCAGTTCAAGGGTCACTGAGGCTTTGCTGATGTAGGGAGAGGGCCAGAGGGAGGCTCCACCCCAGCCGGGCTGAGCCAGGGAACCTGGGACAAAGGTCAGGTGGCTGATTCCAGGTAGTGTTTTGGAGCTGGGCAGTCAGTGGCTGGGCGGGGACATATGCCCAAGAGCCACCATGAACTCCCAGGGGCCTCCAGGCAGGGGCCCTCCATCCCGTGAGTAGGGTGGGGAAGATGGTGGGGTTGCCACAGTCAGGGAACCAAGGGCCCGCCTCTGGGGGCCCTGAAACCTGCCTGCAGGACCTGGGATCTGGAGAGCTGCCCGCTGGCCCGGAGGATGGGCACCCATCCAATCTTGGCTTAGGAAAGGGGCTGCAGAGGGGCGGGTGAGGGGTGGCGGGGATGCAGCCCCACCCTGGCCAGTGCCTCATCTCCTGCCTCCGCATAGGCACCAAGTCTTTCAACATGATGTCCCCGACGGGCGACAACTCGGAGCTACTGGCTGAGATTAAGGCAGGCAAGAGCCTGAAGCCGACGCCCCAGAGCAAGGGGCTGACCACAGTGTTCTCAGGCATCGGGCAGCCGGCCTTCCAGGTAGGCGGGCCCAGCAGGAGCCTGCGACCCGGCTTCCCTGGCCCTAGGCCACCGGGCGCTCAGCCCCACCGCTTCTCCCTGCAGCCCGATTCGCCGCTGCCTTCTGTGTCACCTGCACTGTCACCAGTCCGGAGCCCCACACCGCCAGCTGCGGGGTTTCAGCCGCTGCTCAATGGAAGCTTGGTTCCCGTGCCGCCCACTACTCCTGCGCCGGGAGTGCAGCTGGACGTGGAGGCTCTCATCCCCACGCACGATGAGCAGGGCCGGCCCATCCCCGAGTGGAAGCGCCAGGTGATGGTGCGCAAGATGCAGCTGAAGATGCAGGAGGAGGAGGAGCAGAGGCGGAAGGTGGGTGGGGCGGGGTGCCCAGGGAGCCCTGGGGTCTGCATCTGGATGCACAGCCCATCCCCCACGCCACCCCCAACCCCAACCTCGGGACCTCCCATTTTCTTTCTTTTTTTTTTTTCTTTTCTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGACTCACTGCAACCTTCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGAGCTGGGATTACAGGCATGAACCACCGTGCCCGGCCATTTTCTTTAGGGAAAGCAGGGTGGTACAACCCTGTTTGGGGCTTGTCCCAGTCTCCACACACACCCCCACCAGCTTGTCCTTGGAAGTGAGACAGCAGCCTTTCTCAGACTCTCCTTCACCGGCCCAGCACCTGGGATCTGGTTAAAAGGCCTGTTCGGATTTAGGAGGTCTGGGCGGGGCTGAGGCTCGCATTTCTAGCCAGCTCCTGGGTGAGGCTGCTGATGCTGCTGGTCCAAGGACCACACTGAGTAGCCAAGAGGGCTTTGGTCTCAGTCTTAGGGACCTGGGCTCCATTGCTGTGCTGCCGCCTTCCAGCTGCCGATACTGAGCCTCATCCAGCCTCAGTTTCCTTCTCTGTAAGGTGGGCTGATCAGCACCAGCTGGCAGGATGAGTTGCCTTTTATTCATCCAACAACTATTCCCCAAATGCCATTTATTTTTATTTTTTATTTTTTGAGACAGGGTCTCACTCTGTTACTGAGGCTGGAGTACAGTGGTGCGATCTCGACTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAAATGCCCGCCAACAATGCCCTGCTAATTTTTGTATTCTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCCGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCCCGAGTGCCATTTATGTGCCCCACACACTGTTGTAGCCTCTGGAGATTCATGGTGAACATATCAAGGCCTGCTCTAAGGTGGCTGCGGACATGTGTGCGAGTCACCAAGCACACAAAATGGGGCAGTGTGAGAGAGTGGGTGGCAGTGGAGAGAAGTACCTGGGCTGATGCAACACAGCCAGCTGCAATGGGGAACGCAGGGGACTGGGGCAGCCCTAACCGGCCACCTTATACGTGGGCTGGGGGGCGTGTTAGGGAAGGAGGAGGTGATGTCTAAGGTGACACTTGGAAGACGAGTGAGGGGTGGCCAGGAGGAGAGTGGGCTGAAGAGCCGCAGGTGAGACAGAGCAGTCTGGAAGTGAGAGTGGATGTGGCCCTGACTGTCCTGGAGGAAGGGGGTCGCTGAGCTGGAGAGACCTCAGTGGGGGCCAGGTTACCAAGACCTGGCCAGAGGCCCAGAAGAGAACGGACTTTCTCCTGGAGCACTGGGGAGCCGGGTGCGGGGAGTGTTAAGCAGGGAAGAGGCTGCTTCCTATTTGTATGTGGGGAGTGGATCGCATAGGGTCAAGATGAATCAGGGACCTCTGTGGAGGCGATGGCAGGCCCAGGGGGAAAACTGGACATCAGAGGTGGAGAAAAGTGAGCAAATGAGAATATTACGGTGCCCAGCTGTCCAGCAGGACGAAGGGAGGGGAAGGGTGGGCAGCTCAGTGGAAGCTGCAGCTGCAGCCTCTTTAAGAGCGGAGTGGCCTCTGATTCTGCACAGAAAACATTGAGCA
GTGTCTTCCTCACCCAGCCACTCAGGGCAGAGATCATGCTTAGTGGCACCCCTCAAAGCTTCATCTCCCTGACTAGAAGTGCAGAGCAGAGCTAGTCCCCCTACGGTTCCTATGGAGCCCCAGCCCCTGCAGACCAGAGCCCATGTAAGCAAGTCCAGCACCTGCCGAACCTCCTTCTTCCCTCCACAGCCTGCAGCAGGGCTGAAGCTAAGGGCAGAGAAAAACATACTCTGGGCTTCCCGAGACACCCTCACCCAGCACAGCCAGGGCTGGGTGCCCTACCCCAACCCAGTGCCAAGGTGGAGGCCCTTGCTAGGGGCTAGAGCCAGTGGTGGCCCTGCCCAGCCCTCAGGGGCACCAGCCAAGCCAGGAACTCGATGGACCACCCTCATGGGGCCCCAGAGCAGCCTGAGCCAGGGTCAGATGGGCAGAAAAGCTCCTCCTCTCTTCTCCACTTCCCCCCCGCCCGCTCTCCCTGGCCCGCTCCCTGTCCCCTGCTGTCCCAGTCTCATCCTGCCCCCCCTCCCTCCTAACTCCGCTGTCACTTCTCTCCTCTTGGTCCCTAGAAGTGAGAGTCCTGAGGCACAGGAAGAGTGAGTAGCTGCGTGCGCGGCTCCTGGCTGAGGCTGAGGCGCGGGGTGGGGGGAAGAGGCAGGAAAAGCAAGGCAGAAGGGGCCCAGACTTGAGGAAAGGGCAGGGGCAGGGGCTGGCAGGCGAGAGAACCTCGAAGAATGGGTGGGGCCTTGCACCTCATACCTACCCTCATACCCACATATGCACCCAAGCATTCTGCACCTGGCTGATGGTTTTGCCTAAATAAATGAGCCAGCCACACCGATTTTCCCTTTCTCCTACTCTTCTCCCCCACCACCCCCACCCGCTGTGACTGCATTCTGGGATCCCCAGCCTGGGAATCCAAGAGCTGTCGGCCCATTTTATTCCTCCCTCCCAGACCTGACCCCTTCATCGGGGCTCAAGAGACCTCTCTCTCCAAATCTCCATTTGCCTCCTCTGGCTAAGCTGGAAAATGCACACTCTGCCCTGGGTGTTTCCATATTATCCGCCTGCCCTTCCTCCTGGGTGCCTCCCGTAGCCTTAGTAAGGGCTCTGCTTTCCTGGGCCCCTAGAGCTGAGCCATGCTTTGCCATAAAGGTGCTCCCGGCTTGCAACCAATGTGTCTGCTTGTGCATCTGTCTGTGGGTGTGGTGGGGAGGGAGGGGACCAGGTGGGTACTGGCACTCTGGGGTCCGGACTTTATGTCCATGGAGGCCCCAATTGACTCAGTTCAAGGGTCACTGAGGCTTTGCTGATGTAGGGAGAGGGCCAGAGGGAGGCTCCACCCCAGCCGGGCTGAGCCAGGGAACCTGGGACAAAGGTCAGGTGGCTGATTCCAGGTAGTGTTTTGGAGCTGGGCAGTCAGTGGCTGGGCGGGGACATATGCCCAAGAGCCACCATGAACTCCCAGGGGCCTCCAGGCAGGGGCCCTCCATCCCGTGAGTAGGGTGGGGAAGATGGTGGGGTTGCCACAGTCAGGGAACCAAGGGCCCGCCTCTGGGGGCCCTGAAACCTGCCTGCAGGACCTGGGATCTGGAGAGCTGCCCGCTGGCCCGGAGGATGGGCACCCATCCAATCTTGGCTTAGGAAAGGGGCTGCAGAGGGGCGGGTGAGGGGTGGCGGGGATGCAGCCCCACCCTGGCCAGTGCCTCATCTCCTGCCTCCGCATAGGCACCAAGTCTTTCAACATGATGTCCCCGACGGGCGACAACTCGGAGCTACTGGCTGAGATTAAGGCAGGCAAGAGCCTGAAGCCGACGCCCCAGAGCAAGGGGCTGACCACAGTGTTCTCAGGCATCGGGCAGCCGGCCTTCCAGGTAGGCGGGCCCAGCAGGAGCCTGCGACCCGGCTTCCCTGGCCCTAGGCCACCGGGCGCTCAGCCCCACCGCTTCTCCCTGCAGCCCGATTCGCCGCTGCCTTCTGTGTCACCTGCACTGTCACCAGTCCGGAGCCCCACACCGCCAGCTGCGGGGTTTCAGCCGCTGCTCAATGGACGCTTGGTTCCCGTGCCGCCCACTACTCCTGCGCCGGGAGTGCAGCTGGACGTGGAGGCTCTCATCCCCACGCACGATGAGCAGGGCCGGCCCATCCCCGAGTGGAAGCGCCAGGTGATGGTGCGCAAGATGCAGCTGAAGATGCAGGAGGAGGAGGAGCAGAGGCGGAAGGTGGGTGGGGCGGGGTGCCCAGGGAGCCCTGGGGTCTGCATCTGGATGCACAGCCCATCCCCCACGCCACCCCCAACCCCAACCTCGGGACCTCCCATTTTCTTTCTTTTTTTTTTTTCTTTTCTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGACTCACTGCAACCTTCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGAGCTGGGATTACAGGCATGAACCACCGTGCCCGGCCATTTTCTTTAGGGAAAGCAGGGTGGTACAACCCTGTTTGGGGCTTGTCCCAGTCTCCACACACACCCCCACCAGCTTGTCCTTGGAAGTGAGACAGCAGCCTTTCTCAGACTCTCCTTCACCGGCCCAGCACCTGGGATCTGGTTAAAAGGCCTGTTCGGATTTAGGAGGTCTGGGCGGGGCTGAGGCTCGCATTTCTAGCCAGCTCCTGGGTGAGGCTGCTGATGCTGCTGGTCCAAGGACCACACTGAGTAGCCAAGAGGGCTTTGGTCTCAGTCTTAGGGACCTGGGCTCCATTGCTGTGCTGCCGCCTTCCAGCTGCCGATACTGAGCCTCATCCAGCCTCAGTTTCCTTCTCTGTAAGGTGGGCTGATCAGCACCAGCTGGCAGGATGAGTTGCCTTTTATTCATCCAACAACTATTCCCCAAATGCCATTTATTTTTATTTTTTATTTTTTGAGACAGGGTCTCACTCTGTTACTGAGGCTGGAGTACAGTGGTGCGATCTCGACTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAAATGCCCGCCAACAATGCCCTGCTAATTTTTGTATTCTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCCGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCCCGAGTGCCATTTATGTGCCCCACACACTGTTGTAGCCTCTGGAGATTCATGGTGAACATATCAAGGCCTGCTCTAAGGTGGCTGCGGACATGTGTGCGAGTCACCAAGCACACAAAATGGGGCAGTGTGAGAGAGTGGGTGGCAGTGGAGAGAAGTACCTGGGCTGATGCAACACAGCCAGCTGCAATGGGGAACGCAGGGGACTGGGGCAGCCCTAACCGGCCACCTTATACGTGGGCTGGGGGGCGTGTTAGGGAAGGAGGAGGTGATGTCTAAGGTGACACTTGGAAGACGAGTGAGGGGTGGCCAGGAGGAGAGTGGGCTGAAGAGCCGCAGGTGAGACAGAGCAGTCTGGAAGTGAGAGTGGATGTGGCCCTGACTGTCCTGGAGGAAGGGGGTCGCTGAGCTGGAGAGACCTCAGTGGGGGCCAGGTTACCAAGACCTGGCCAGAGGCCCAGAAGAGAACGGACTTTCTCCTGGAGCACTGGGGAGCCGGGTGCGGGGAGTGTTAAGCAGGGAAGAGGCTGCTTCCTATTTGTATGTGGGGAGTGGATCGCATAGGGTCAAGATGAATCAGGGACCTCTGTGGAGGCGATGGCAGGCCCAGGGGGAAAACTGGACATCAGAGGTGGAGAAAAGTGAGCAAATGAGAATATTACGGTGCCCAGCTGTCCAGCAGGACGAAGGGAGGGGAAGGGTGGGCAGCTCAGTGGAAGCTGCAGCTGCAGCCTCTTTAAGAGCGGAGTGGCCTCTGATTCTGCACAGAAAACATTGAGCA
Task1_train_77
A genomic change on Chromosome 1 affects ESPN (espin). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Deafness, without vestibular involvement, autosomal dominant
GAACCTCCTTCTTCCCTCCACAGCCTGCAGCAGGGCTGAAGCTAAGGGCAGAGAAAAACATACTCTGGGCTTCCCGAGACACCCTCACCCAGCACAGCCAGGGCTGGGTGCCCTACCCCAACCCAGTGCCAAGGTGGAGGCCCTTGCTAGGGGCTAGAGCCAGTGGTGGCCCTGCCCAGCCCTCAGGGGCACCAGCCAAGCCAGGAACTCGATGGACCACCCTCATGGGGCCCCAGAGCAGCCTGAGCCAGGGTCAGATGGGCAGAAAAGCTCCTCCTCTCTTCTCCACTTCCCCCCCGCCCGCTCTCCCTGGCCCGCTCCCTGTCCCCTGCTGTCCCAGTCTCATCCTGCCCCCCCTCCCTCCTAACTCCGCTGTCACTTCTCTCCTCTTGGTCCCTAGAAGTGAGAGTCCTGAGGCACAGGAAGAGTGAGTAGCTGCGTGCGCGGCTCCTGGCTGAGGCTGAGGCGCGGGGTGGGGGGAAGAGGCAGGAAAAGCAAGGCAGAAGGGGCCCAGACTTGAGGAAAGGGCAGGGGCAGGGGCTGGCAGGCGAGAGAACCTCGAAGAATGGGTGGGGCCTTGCACCTCATACCTACCCTCATACCCACATATGCACCCAAGCATTCTGCACCTGGCTGATGGTTTTGCCTAAATAAATGAGCCAGCCACACCGATTTTCCCTTTCTCCTACTCTTCTCCCCCACCACCCCCACCCGCTGTGACTGCATTCTGGGATCCCCAGCCTGGGAATCCAAGAGCTGTCGGCCCATTTTATTCCTCCCTCCCAGACCTGACCCCTTCATCGGGGCTCAAGAGACCTCTCTCTCCAAATCTCCATTTGCCTCCTCTGGCTAAGCTGGAAAATGCACACTCTGCCCTGGGTGTTTCCATATTATCCGCCTGCCCTTCCTCCTGGGTGCCTCCCGTAGCCTTAGTAAGGGCTCTGCTTTCCTGGGCCCCTAGAGCTGAGCCATGCTTTGCCATAAAGGTGCTCCCGGCTTGCAACCAATGTGTCTGCTTGTGCATCTGTCTGTGGGTGTGGTGGGGAGGGAGGGGACCAGGTGGGTACTGGCACTCTGGGGTCCGGACTTTATGTCCATGGAGGCCCCAATTGACTCAGTTCAAGGGTCACTGAGGCTTTGCTGATGTAGGGAGAGGGCCAGAGGGAGGCTCCACCCCAGCCGGGCTGAGCCAGGGAACCTGGGACAAAGGTCAGGTGGCTGATTCCAGGTAGTGTTTTGGAGCTGGGCAGTCAGTGGCTGGGCGGGGACATATGCCCAAGAGCCACCATGAACTCCCAGGGGCCTCCAGGCAGGGGCCCTCCATCCCGTGAGTAGGGTGGGGAAGATGGTGGGGTTGCCACAGTCAGGGAACCAAGGGCCCGCCTCTGGGGGCCCTGAAACCTGCCTGCAGGACCTGGGATCTGGAGAGCTGCCCGCTGGCCCGGAGGATGGGCACCCATCCAATCTTGGCTTAGGAAAGGGGCTGCAGAGGGGCGGGTGAGGGGTGGCGGGGATGCAGCCCCACCCTGGCCAGTGCCTCATCTCCTGCCTCCGCATAGGCACCAAGTCTTTCAACATGATGTCCCCGACGGGCGACAACTCGGAGCTACTGGCTGAGATTAAGGCAGGCAAGAGCCTGAAGCCGACGCCCCAGAGCAAGGGGCTGACCACAGTGTTCTCAGGCATCGGGCAGCCGGCCTTCCAGGTAGGCGGGCCCAGCAGGAGCCTGCGACCCGGCTTCCCTGGCCCTAGGCCACCGGGCGCTCAGCCCCACCGCTTCTCCCTGCAGCCCGATTCGCCGCTGCCTTCTGTGTCACCTGCACTGTCACCAGTCCGGAGCCCCACACCGCCAGCTGCGGGGTTTCAGCCGCTGCTCAATGGAAGCTTGGTTCCCGTGCCGCCCACTACTCCTGCGCCGGGAGTGCAGCTGGACGTGGAGGCTCTCATCCCCACGCACGATGAGCAGGGCCGGCCCATCCCCGAGTGGAAGCGCCAGGTGATGGTGCGCAAGATGCAGCTGAAGATGCAGGAGGAGGAGGAGCAGAGGCGGAAGGTGGGTGGGGCGGGGTGCCCAGGGAGCCCTGGGGTCTGCATCTGGATGCACAGCCCATCCCCCACGCCACCCCCAACCCCAACCTCGGGACCTCCCATTTTCTTTCTTTTTTTTTTTTCTTTTCTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGACTCACTGCAACCTTCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGAGCTGGGATTACAGGCATGAACCACCGTGCCCGGCCATTTTCTTTAGGGAAAGCAGGGTGGTACAACCCTGTTTGGGGCTTGTCCCAGTCTCCACACACACCCCCACCAGCTTGTCCTTGGAAGTGAGACAGCAGCCTTTCTCAGACTCTCCTTCACCGGCCCAGCACCTGGGATCTGGTTAAAAGGCCTGTTCGGATTTAGGAGGTCTGGGCGGGGCTGAGGCTCGCATTTCTAGCCAGCTCCTGGGTGAGGCTGCTGATGCTGCTGGTCCAAGGACCACACTGAGTAGCCAAGAGGGCTTTGGTCTCAGTCTTAGGGACCTGGGCTCCATTGCTGTGCTGCCGCCTTCCAGCTGCCGATACTGAGCCTCATCCAGCCTCAGTTTCCTTCTCTGTAAGGTGGGCTGATCAGCACCAGCTGGCAGGATGAGTTGCCTTTTATTCATCCAACAACTATTCCCCAAATGCCATTTATTTTTATTTTTTATTTTTTGAGACAGGGTCTCACTCTGTTACTGAGGCTGGAGTACAGTGGTGCGATCTCGACTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAAATGCCCGCCAACAATGCCCTGCTAATTTTTGTATTCTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCCGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCCCGAGTGCCATTTATGTGCCCCACACACTGTTGTAGCCTCTGGAGATTCATGGTGAACATATCAAGGCCTGCTCTAAGGTGGCTGCGGACATGTGTGCGAGTCACCAAGCACACAAAATGGGGCAGTGTGAGAGAGTGGGTGGCAGTGGAGAGAAGTACCTGGGCTGATGCAACACAGCCAGCTGCAATGGGGAACGCAGGGGACTGGGGCAGCCCTAACCGGCCACCTTATACGTGGGCTGGGGGGCGTGTTAGGGAAGGAGGAGGTGATGTCTAAGGTGACACTTGGAAGACGAGTGAGGGGTGGCCAGGAGGAGAGTGGGCTGAAGAGCCGCAGGTGAGACAGAGCAGTCTGGAAGTGAGAGTGGATGTGGCCCTGACTGTCCTGGAGGAAGGGGGTCGCTGAGCTGGAGAGACCTCAGTGGGGGCCAGGTTACCAAGACCTGGCCAGAGGCCCAGAAGAGAACGGACTTTCTCCTGGAGCACTGGGGAGCCGGGTGCGGGGAGTGTTAAGCAGGGAAGAGGCTGCTTCCTATTTGTATGTGGGGAGTGGATCGCATAGGGTCAAGATGAATCAGGGACCTCTGTGGAGGCGATGGCAGGCCCAGGGGGAAAACTGGACATCAGAGGTGGAGAAAAGTGAGCAAATGAGAATATTACGGTGCCCAGCTGTCCAGCAGGACGAAGGGAGGGGAAGGGTGGGCAGCTCAGTGGAAGCTGCAGCTGCAGCCTCTTTAAGAGCGGAGTGGCCTCTGATTCTGCACAGAAAACATTGAGCACAGGGAGCGGGAAGGCTTGGGCCACAGGGGAGCTGGAGAAGGGGTCATGAGTCTGGGAGGAGAGGCCTCAATAGCCGCCCTCGGATGGGTTGGGGAGGGCCACCGCGCCTCTCAGCTTCAACGCCTTTCGCAAGTTCCTTGGGTGGTGTAATGAGCGAACAAGCCA
GAACCTCCTTCTTCCCTCCACAGCCTGCAGCAGGGCTGAAGCTAAGGGCAGAGAAAAACATACTCTGGGCTTCCCGAGACACCCTCACCCAGCACAGCCAGGGCTGGGTGCCCTACCCCAACCCAGTGCCAAGGTGGAGGCCCTTGCTAGGGGCTAGAGCCAGTGGTGGCCCTGCCCAGCCCTCAGGGGCACCAGCCAAGCCAGGAACTCGATGGACCACCCTCATGGGGCCCCAGAGCAGCCTGAGCCAGGGTCAGATGGGCAGAAAAGCTCCTCCTCTCTTCTCCACTTCCCCCCCGCCCGCTCTCCCTGGCCCGCTCCCTGTCCCCTGCTGTCCCAGTCTCATCCTGCCCCCCCTCCCTCCTAACTCCGCTGTCACTTCTCTCCTCTTGGTCCCTAGAAGTGAGAGTCCTGAGGCACAGGAAGAGTGAGTAGCTGCGTGCGCGGCTCCTGGCTGAGGCTGAGGCGCGGGGTGGGGGGAAGAGGCAGGAAAAGCAAGGCAGAAGGGGCCCAGACTTGAGGAAAGGGCAGGGGCAGGGGCTGGCAGGCGAGAGAACCTCGAAGAATGGGTGGGGCCTTGCACCTCATACCTACCCTCATACCCACATATGCACCCAAGCATTCTGCACCTGGCTGATGGTTTTGCCTAAATAAATGAGCCAGCCACACCGATTTTCCCTTTCTCCTACTCTTCTCCCCCACCACCCCCACCCGCTGTGACTGCATTCTGGGATCCCCAGCCTGGGAATCCAAGAGCTGTCGGCCCATTTTATTCCTCCCTCCCAGACCTGACCCCTTCATCGGGGCTCAAGAGACCTCTCTCTCCAAATCTCCATTTGCCTCCTCTGGCTAAGCTGGAAAATGCACACTCTGCCCTGGGTGTTTCCATATTATCCGCCTGCCCTTCCTCCTGGGTGCCTCCCGTAGCCTTAGTAAGGGCTCTGCTTTCCTGGGCCCCTAGAGCTGAGCCATGCTTTGCCATAAAGGTGCTCCCGGCTTGCAACCAATGTGTCTGCTTGTGCATCTGTCTGTGGGTGTGGTGGGGAGGGAGGGGACCAGGTGGGTACTGGCACTCTGGGGTCCGGACTTTATGTCCATGGAGGCCCCAATTGACTCAGTTCAAGGGTCACTGAGGCTTTGCTGATGTAGGGAGAGGGCCAGAGGGAGGCTCCACCCCAGCCGGGCTGAGCCAGGGAACCTGGGACAAAGGTCAGGTGGCTGATTCCAGGTAGTGTTTTGGAGCTGGGCAGTCAGTGGCTGGGCGGGGACATATGCCCAAGAGCCACCATGAACTCCCAGGGGCCTCCAGGCAGGGGCCCTCCATCCCGTGAGTAGGGTGGGGAAGATGGTGGGGTTGCCACAGTCAGGGAACCAAGGGCCCGCCTCTGGGGGCCCTGAAACCTGCCTGCAGGACCTGGGATCTGGAGAGCTGCCCGCTGGCCCGGAGGATGGGCACCCATCCAATCTTGGCTTAGGAAAGGGGCTGCAGAGGGGCGGGTGAGGGGTGGCGGGGATGCAGCCCCACCCTGGCCAGTGCCTCATCTCCTGCCTCCGCATAGGCACCAAGTCTTTCAACATGATGTCCCCGACGGGCGACAACTCGGAGCTACTGGCTGAGATTAAGGCAGGCAAGAGCCTGAAGCCGACGCCCCAGAGCAAGGGGCTGACCACAGTGTTCTCAGGCATCGGGCAGCCGGCCTTCCAGGTAGGCGGGCCCAGCAGGAGCCTGCGACCCGGCTTCCCTGGCCCTAGGCCACCGGGCGCTCAGCCCCACCGCTTCTCCCTGCAGCCCGATTCGCCGCTGCCTTCTGTGTCACCTGCACTGTCACCAGTCCGGAGCCCCACACCGCCAGCTGCGGGGTTTCAGCCGCTGCTCAATGGAAGCTTGGTTCCCGTGCCGCCCACTACTCCTGCGCCGGGAGTGCAGCTGGACGTGGAGGCTCTCATCCCCACGCACGATGAGCAGGGCCGGCCCATCCCCGAGTGGAAGCGCCAGGTGATGGTGCGCAAGATGCAGCTGAAGATGCAGGAGGAGGAGGAGCAGAGGCAGAAGGTGGGTGGGGCGGGGTGCCCAGGGAGCCCTGGGGTCTGCATCTGGATGCACAGCCCATCCCCCACGCCACCCCCAACCCCAACCTCGGGACCTCCCATTTTCTTTCTTTTTTTTTTTTCTTTTCTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGACTCACTGCAACCTTCGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGAGCTGGGATTACAGGCATGAACCACCGTGCCCGGCCATTTTCTTTAGGGAAAGCAGGGTGGTACAACCCTGTTTGGGGCTTGTCCCAGTCTCCACACACACCCCCACCAGCTTGTCCTTGGAAGTGAGACAGCAGCCTTTCTCAGACTCTCCTTCACCGGCCCAGCACCTGGGATCTGGTTAAAAGGCCTGTTCGGATTTAGGAGGTCTGGGCGGGGCTGAGGCTCGCATTTCTAGCCAGCTCCTGGGTGAGGCTGCTGATGCTGCTGGTCCAAGGACCACACTGAGTAGCCAAGAGGGCTTTGGTCTCAGTCTTAGGGACCTGGGCTCCATTGCTGTGCTGCCGCCTTCCAGCTGCCGATACTGAGCCTCATCCAGCCTCAGTTTCCTTCTCTGTAAGGTGGGCTGATCAGCACCAGCTGGCAGGATGAGTTGCCTTTTATTCATCCAACAACTATTCCCCAAATGCCATTTATTTTTATTTTTTATTTTTTGAGACAGGGTCTCACTCTGTTACTGAGGCTGGAGTACAGTGGTGCGATCTCGACTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAAATGCCCGCCAACAATGCCCTGCTAATTTTTGTATTCTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCCGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCCCCGAGTGCCATTTATGTGCCCCACACACTGTTGTAGCCTCTGGAGATTCATGGTGAACATATCAAGGCCTGCTCTAAGGTGGCTGCGGACATGTGTGCGAGTCACCAAGCACACAAAATGGGGCAGTGTGAGAGAGTGGGTGGCAGTGGAGAGAAGTACCTGGGCTGATGCAACACAGCCAGCTGCAATGGGGAACGCAGGGGACTGGGGCAGCCCTAACCGGCCACCTTATACGTGGGCTGGGGGGCGTGTTAGGGAAGGAGGAGGTGATGTCTAAGGTGACACTTGGAAGACGAGTGAGGGGTGGCCAGGAGGAGAGTGGGCTGAAGAGCCGCAGGTGAGACAGAGCAGTCTGGAAGTGAGAGTGGATGTGGCCCTGACTGTCCTGGAGGAAGGGGGTCGCTGAGCTGGAGAGACCTCAGTGGGGGCCAGGTTACCAAGACCTGGCCAGAGGCCCAGAAGAGAACGGACTTTCTCCTGGAGCACTGGGGAGCCGGGTGCGGGGAGTGTTAAGCAGGGAAGAGGCTGCTTCCTATTTGTATGTGGGGAGTGGATCGCATAGGGTCAAGATGAATCAGGGACCTCTGTGGAGGCGATGGCAGGCCCAGGGGGAAAACTGGACATCAGAGGTGGAGAAAAGTGAGCAAATGAGAATATTACGGTGCCCAGCTGTCCAGCAGGACGAAGGGAGGGGAAGGGTGGGCAGCTCAGTGGAAGCTGCAGCTGCAGCCTCTTTAAGAGCGGAGTGGCCTCTGATTCTGCACAGAAAACATTGAGCACAGGGAGCGGGAAGGCTTGGGCCACAGGGGAGCTGGAGAAGGGGTCATGAGTCTGGGAGGAGAGGCCTCAATAGCCGCCCTCGGATGGGTTGGGGAGGGCCACCGCGCCTCTCAGCTTCAACGCCTTTCGCAAGTTCCTTGGGTGGTGTAATGAGCGAACAAGCCA
Task1_train_78
Chromosome 1 houses a mutation in gene CAMTA1 (calmodulin binding transcription activator 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Neurodevelopmental abnormality
AACCCATCCACAGAAGAAGACCCGGCATTGCCACACTCTCATGAGTGTCTTCATTCTTTTTTTGGAGAGAATGAGCCACACGCAGAGCCCACCTGTTTCATTAAACAAGTTCCCTTGCTTATTCCTTAGGAAGTGGTCCTAAGCACAGTCCGTGGACCTCAGGCACCTTCTAATGGGTCTTTCAGGGGCGGGGAGGGCTTACAGCACGGTGAAGATTAAGGACAAACATCTAGAGAGGGGCTGAAGCGGGAAGAGGCTGACATCGTTGGCCCCACATGCAAGCCTACCTGCCATTTAGAAATGGAAGTGAATTGTAAGGTTTCCAATGCAGACTTGTAAGCAGGAGACAGATACCAGCGGGTGACAGCATTGTGACAAGCGCGTGGAGCCATTTCCTGATTGTTTTAGTCGATACAGACTTAGGGAGGAAACCAACACTGACACAAACCAATTGTGCCCTGATCGGGAAACAATGAAGTATCGGGAGTCGCTGTTGAAAGTCTGTAATTTCCAGCGGAATTGCTGTTTAGTCATCATATTGCCGCTGAATGACATAGTGGGGCTGGGTGGAAACTACAATTAGCTGCAGTCACCCTGGTGGGACTGTTTTTTTCCCCCCAGACAATAGAATATGAAGCCATCAACAGCCAATGTTCTGTGCTGCTTGTGAAATGGCCCATTGTTCGTAGCAAGAAGAAAAGAAAGGCGCTGGAGGGTCTTGCCCCAGCCCTGCGGGGGACAGATGGCTGACTTATGGTTTCCTCGCCTCCGTTGTAGCAGAGCAACATACAAGCCAGGCTGAAGAAGCCCCACTTCATTTGCCTTATTTGTGTAAAGAGCTCTCTGGCCGTGGCTGAGAGTGAGGTGGCAAGCCTGCACTGGCCTCGTGGTGCGCAGAATCGCTGGCATTCCTCTTCCCCTGCTGCACGTTCAGGTGCAGAGTGGTGCAGCACTGCGTGGGGTGCTGCTAGATTTTGGGGGAGTCTTCCTTGACGTTGGATCTGCCCACAGCTACTGAAACTTTATTCTGAAAGTGGTTTATCACAGCACTTGCCCTCAGCTGCTAGAGGGGTTTAGTTCTTTCTCTCCTTGGGGTTTCCAAACCCAAATATGTGACCTGACCACCGCATCTGCAGATATGCACGTCATCAGCCTCTCCTCTCTGTGGTGGACGCGTGTTTTCTTTTTGGCAAATTCAAGGTTCTTTACCTTTTTCATCATCACACGAATGACCATCTAACTCTTAGCATTTAGGGAGCAAGCCGCTATTTCCCTGAGATGCTCTGGCTGTGGACTGAATAGATGACTTTACCTGGCAGTATCTGAGACCCCTGACAGCTGAAGCCTAAATGGGAAAGAATCGGGTACTTAGCTTGCTTGAGAAGCAAGACCGCAGATGCTCTTTCATATCTAGCAGTAATCTAAATGCAGGCAATGAACCAACAGCATTTGGCCTCGGTGAACAGCTCTGCCATCGGTCTGTTCTTAACATAGTCATCTAGCGTCTGCGTTAAACTTATTTATTTCCTAATGCTGGGTGATGGATTAAAAGATGTGTAGAAAATCCTTCCACAAGAGATAAGATATTGCAGGCTGCCACGACACCCCTGGCTCTTTTTGCTTTCTGTCTCTGTTTTGCCTACTTTTCAGTGCAGAGCTCAGGCCCCCACATCGTATATCCTGATTACTTTGTGGTTATTACTGAGGGGATGTTTTTTAAGCCTATCATTGACACATTTAATTCATTAGGTACCAAATCCAAAGCAAATTTTGGCTGGCCATAAAACATGGTTAATCCAGGGAGATGCAATAAAAGGTGAAAAATTATGTTCCAGCAAATGTGGAATATTGCTTTTCTGTAGAGACTTTTACTGGTCGATGATATCTTTCTTCATAAATTTTTCTTCTACTTGGTACTCTTGGTAACTTAACCATTTGTTGTTTCCAGACCACAGAATGGCTCAATGATACTCTACAACAGGAAGAAAGTGAAATACAGGAAAGATGGGTATTGCTGGAAAAAGAGGAAAGATGGGAAAACGACCAGAGAGGACCACATGAAACTCAAGGTCCAGGGAGTGGAGGTAAACAGCAGAAAAGGTTCCCTTGGTGCACAAATGTCATTTGCAGGCTGCAGTGGAGAATGGAATTGCTTGGAGTAATTTGATGCGAGTCACCTCTGTCCAAAGAATTTTTGTTTGCCAAGACCCTGGTTTTTGCTTTTGTTTCGTTTTTCTACCTTCTTACCCTATAGTCTCCATTCAAGTTTTCAGTGAAACTGGATTGAACTAAAGCACTCCTGTTTCTTGGGAGTCATTGCTATATAGATGGGGATTTGCAAGTTTCCTGTGGACTCATTTGTTGTATTTATCACGGAAGAGCCTCTGGATGCATTGAGAGTTTGCAAAGTGTCAGGGAAGAGGGGAGGCAGCGTAAGGAACTTCCCTCTTGAGGTGACCCTGGCCTCCCCCTGCCAAGCTGGCAGGCCCCTCACAGAGCCTGGCTTCACCCCCTCCACCGACAAACCCTGGGTGTGTCAGCCTTAATAGAGGTTTGAGATCATTAGATGGGATCACAGGTGTGCATGATTCTTGCATGGTTGGGGTCCTGCAGAAACATCTTGGGATCTTGGGCCGACTTCGGGTTTTGGCCCTTGGGTAAAGACTGGTTTCCTTGCTGTTGTTTTCACCCCACAGACTCTCAACCTTGGGCAGCCATGGAGAAATTCCCTTATTCCTCTTTGCCATCGTTTGAGGGCCTGAGCCATGTGTCACAGCCGTAGAGGGGGAGGGCATGAGTCAAGGTGAAGTCTTGGCCTGCTGGTTAACTAGCATCCACTTCCCTGCGTTCCTAACTGGTCCTGGGAAGGAACTTCCCCTGGGAACAGGGAAGGCATTGCCTTGGGCCCGGAGCTGAGAAGCTGGCTCGTGATCCACCTGTTATTTCGAACGGGTCAAAGAGAGGCATTCTGGAGTCTGTTGGTGTGTTGAGTTTGCGAGCATACAGGATGGATAGCTGGGACCATAAACCCACTTGAATTCAATGTGTTACCCTTCCACGCCAATGTTTTTTGTGACATGCTTTGTCATGATGACTTTTTCCGTATAAATCATGTGCTTTTATGGCTGTTAAAAATAGCACCAAATGGCCTGTATTATATGACCTCACAGAGGGATGACTTTTGTTTTATGTTTTTTTTAAATACCTAATAACAATGCTTTATGGAGATGCAAAAAGAAAAGCCTCTATCCAAGAAATTCCAGTTCCTGCATTCTCCTGTGCTCAGTGTTTGCACAGTGTGGTTTAATTGACTGCACAGAACATTAAAATGCAGATTCCCCCAAACACACTGCTCTGGGCGCACCTCTAGGACGGTGACCGCTGATCGTACAAAGGCATTAGCCATCATCGCAGGGAGCCAAAGGAGGGAGGGCTTGGTTCTTCCTGGGAGGACCCTCATCTCCTACGCTGGAGGGAGAGGTAGAGAGTGAGGCAAGGCTGGGTGGGGCCCCCGAACAACGAGGCTGCTCGCACCGGGAGTAATAGGGCTGCGGGAATTCAAACTGGAAGTCACGGCAGCTCCTGTGCCCGTAGGCCCCTGGTATATTTCATCTTTAGTAATACGTACATCAGGAACTTCTGCTCGTGAGTAACAGCCGGGTGGAATTCTTCCTCAGCAGCAGCTGAGAAGCCGAGGGGAGAAAACAACCCACAGTGTTCGTTTTCTTTCCTCATGTTATAAATTAGAGTTGTCACTGGATGGAATCAGAATGATTTATGGCTATTTGTTAGGCCATATTTGTGTTTGGAGTTATTTGTGTGCTCATACTTGCAGGCAACAGTCTGTCCCCTCAGAACTTCGGGAAAGGGAGACGGGCAGGATGGGGAGGGGTTTCCATGACCTCCTAACATGGATGGCAGTGTGGGCAGCGGGAAGAGCCGGTGACACGATGCTTGCTTTGGGTTCTCAGAGAGAGGCCACCTACTATGATGCATTATGTGGTGGCCTTGCCCGTGAGCTCAGCGAGTTGTCCCACTGAGCCACTCAGCAGATATCGACCCTGTGTGCCTACTCTGTGCAAGGCACTATGGTGTC
AACCCATCCACAGAAGAAGACCCGGCATTGCCACACTCTCATGAGTGTCTTCATTCTTTTTTTGGAGAGAATGAGCCACACGCAGAGCCCACCTGTTTCATTAAACAAGTTCCCTTGCTTATTCCTTAGGAAGTGGTCCTAAGCACAGTCCGTGGACCTCAGGCACCTTCTAATGGGTCTTTCAGGGGCGGGGAGGGCTTACAGCACGGTGAAGATTAAGGACAAACATCTAGAGAGGGGCTGAAGCGGGAAGAGGCTGACATCGTTGGCCCCACATGCAAGCCTACCTGCCATTTAGAAATGGAAGTGAATTGTAAGGTTTCCAATGCAGACTTGTAAGCAGGAGACAGATACCAGCGGGTGACAGCATTGTGACAAGCGCGTGGAGCCATTTCCTGATTGTTTTAGTCGATACAGACTTAGGGAGGAAACCAACACTGACACAAACCAATTGTGCCCTGATCGGGAAACAATGAAGTATCGGGAGTCGCTGTTGAAAGTCTGTAATTTCCAGCGGAATTGCTGTTTAGTCATCATATTGCCGCTGAATGACATAGTGGGGCTGGGTGGAAACTACAATTAGCTGCAGTCACCCTGGTGGGACTGTTTTTTTCCCCCCAGACAATAGAATATGAAGCCATCAACAGCCAATGTTCTGTGCTGCTTGTGAAATGGCCCATTGTTCGTAGCAAGAAGAAAAGAAAGGCGCTGGAGGGTCTTGCCCCAGCCCTGCGGGGGACAGATGGCTGACTTATGGTTTCCTCGCCTCCGTTGTAGCAGAGCAACATACAAGCCAGGCTGAAGAAGCCCCACTTCATTTGCCTTATTTGTGTAAAGAGCTCTCTGGCCGTGGCTGAGAGTGAGGTGGCAAGCCTGCACTGGCCTCGTGGTGCGCAGAATCGCTGGCATTCCTCTTCCCCTGCTGCACGTTCAGGTGCAGAGTGGTGCAGCACTGCGTGGGGTGCTGCTAGATTTTGGGGGAGTCTTCCTTGACGTTGGATCTGCCCACAGCTACTGAAACTTTATTCTGAAAGTGGTTTATCACAGCACTTGCCCTCAGCTGCTAGAGGGGTTTAGTTCTTTCTCTCCTTGGGGTTTCCAAACCCAAATATGTGACCTGACCACCGCATCTGCAGATATGCACGTCATCAGCCTCTCCTCTCTGTGGTGGACGCGTGTTTTCTTTTTGGCAAATTCAAGGTTCTTTACCTTTTTCATCATCACACGAATGACCATCTAACTCTTAGCATTTAGGGAGCAAGCCGCTATTTCCCTGAGATGCTCTGGCTGTGGACTGAATAGATGACTTTACCTGGCAGTATCTGAGACCCCTGACAGCTGAAGCCTAAATGGGAAAGAATCGGGTACTTAGCTTGCTTGAGAAGCAAGACCGCAGATGCTCTTTCATATCTAGCAGTAATCTAAATGCAGGCAATGAACCAACAGCATTTGGCCTCGGTGAACAGCTCTGCCATCGGTCTGTTCTTAACATAGTCATCTAGCGTCTGCGTTAAACTTATTTATTTCCTAATGCTGGGTGATGGATTAAAAGATGTGTAGAAAATCCTTCCACAAGAGATAAGATATTGCAGGCTGCCACGACACCCCTGGCTCTTTTTGCTTTCTGTCTCTGTTTTGCCTACTTTTCAGTGCAGAGCTCAGGCCCCCACATCGTATATCCTGATTACTTTGTGGTTATTACTGAGGGGATGTTTTTTAAGCCTATCATTGACACATTTAATTCATTAGGTACCAAATCCAAAGCAAATTTTGGCTGGCCATAAAACATGGTTAATCCAGGGAGATGCAATAAAAGGTGAAAAATTATGTTCCAGCAAATGTGGAATATTGCTTTTCTGTAGAGACTTTTACTGGTCGATGATATCTTTCTTCATAAATTTTTCTTCTACTTGGTACTCTTGGTAACTTAACCATTTGTTGTTTCCAGACCACAGAATGGCTCAATGATACTCTACAACAGGAAGAAAGTGAAATACAGGAAAGATGGGTATTGCTGGAAAAAGAGGAAAGATGGGAAAACGACCAGAAAGGACCACATGAAACTCAAGGTCCAGGGAGTGGAGGTAAACAGCAGAAAAGGTTCCCTTGGTGCACAAATGTCATTTGCAGGCTGCAGTGGAGAATGGAATTGCTTGGAGTAATTTGATGCGAGTCACCTCTGTCCAAAGAATTTTTGTTTGCCAAGACCCTGGTTTTTGCTTTTGTTTCGTTTTTCTACCTTCTTACCCTATAGTCTCCATTCAAGTTTTCAGTGAAACTGGATTGAACTAAAGCACTCCTGTTTCTTGGGAGTCATTGCTATATAGATGGGGATTTGCAAGTTTCCTGTGGACTCATTTGTTGTATTTATCACGGAAGAGCCTCTGGATGCATTGAGAGTTTGCAAAGTGTCAGGGAAGAGGGGAGGCAGCGTAAGGAACTTCCCTCTTGAGGTGACCCTGGCCTCCCCCTGCCAAGCTGGCAGGCCCCTCACAGAGCCTGGCTTCACCCCCTCCACCGACAAACCCTGGGTGTGTCAGCCTTAATAGAGGTTTGAGATCATTAGATGGGATCACAGGTGTGCATGATTCTTGCATGGTTGGGGTCCTGCAGAAACATCTTGGGATCTTGGGCCGACTTCGGGTTTTGGCCCTTGGGTAAAGACTGGTTTCCTTGCTGTTGTTTTCACCCCACAGACTCTCAACCTTGGGCAGCCATGGAGAAATTCCCTTATTCCTCTTTGCCATCGTTTGAGGGCCTGAGCCATGTGTCACAGCCGTAGAGGGGGAGGGCATGAGTCAAGGTGAAGTCTTGGCCTGCTGGTTAACTAGCATCCACTTCCCTGCGTTCCTAACTGGTCCTGGGAAGGAACTTCCCCTGGGAACAGGGAAGGCATTGCCTTGGGCCCGGAGCTGAGAAGCTGGCTCGTGATCCACCTGTTATTTCGAACGGGTCAAAGAGAGGCATTCTGGAGTCTGTTGGTGTGTTGAGTTTGCGAGCATACAGGATGGATAGCTGGGACCATAAACCCACTTGAATTCAATGTGTTACCCTTCCACGCCAATGTTTTTTGTGACATGCTTTGTCATGATGACTTTTTCCGTATAAATCATGTGCTTTTATGGCTGTTAAAAATAGCACCAAATGGCCTGTATTATATGACCTCACAGAGGGATGACTTTTGTTTTATGTTTTTTTTAAATACCTAATAACAATGCTTTATGGAGATGCAAAAAGAAAAGCCTCTATCCAAGAAATTCCAGTTCCTGCATTCTCCTGTGCTCAGTGTTTGCACAGTGTGGTTTAATTGACTGCACAGAACATTAAAATGCAGATTCCCCCAAACACACTGCTCTGGGCGCACCTCTAGGACGGTGACCGCTGATCGTACAAAGGCATTAGCCATCATCGCAGGGAGCCAAAGGAGGGAGGGCTTGGTTCTTCCTGGGAGGACCCTCATCTCCTACGCTGGAGGGAGAGGTAGAGAGTGAGGCAAGGCTGGGTGGGGCCCCCGAACAACGAGGCTGCTCGCACCGGGAGTAATAGGGCTGCGGGAATTCAAACTGGAAGTCACGGCAGCTCCTGTGCCCGTAGGCCCCTGGTATATTTCATCTTTAGTAATACGTACATCAGGAACTTCTGCTCGTGAGTAACAGCCGGGTGGAATTCTTCCTCAGCAGCAGCTGAGAAGCCGAGGGGAGAAAACAACCCACAGTGTTCGTTTTCTTTCCTCATGTTATAAATTAGAGTTGTCACTGGATGGAATCAGAATGATTTATGGCTATTTGTTAGGCCATATTTGTGTTTGGAGTTATTTGTGTGCTCATACTTGCAGGCAACAGTCTGTCCCCTCAGAACTTCGGGAAAGGGAGACGGGCAGGATGGGGAGGGGTTTCCATGACCTCCTAACATGGATGGCAGTGTGGGCAGCGGGAAGAGCCGGTGACACGATGCTTGCTTTGGGTTCTCAGAGAGAGGCCACCTACTATGATGCATTATGTGGTGGCCTTGCCCGTGAGCTCAGCGAGTTGTCCCACTGAGCCACTCAGCAGATATCGACCCTGTGTGCCTACTCTGTGCAAGGCACTATGGTGTC
Task1_train_79
Consider a variant on Chromosome 1 in gene CAMTA1 (calmodulin binding transcription activator 1). Determine its clinical classification and disease relevance.
Pathogenic; Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ACCCATCCACAGAAGAAGACCCGGCATTGCCACACTCTCATGAGTGTCTTCATTCTTTTTTTGGAGAGAATGAGCCACACGCAGAGCCCACCTGTTTCATTAAACAAGTTCCCTTGCTTATTCCTTAGGAAGTGGTCCTAAGCACAGTCCGTGGACCTCAGGCACCTTCTAATGGGTCTTTCAGGGGCGGGGAGGGCTTACAGCACGGTGAAGATTAAGGACAAACATCTAGAGAGGGGCTGAAGCGGGAAGAGGCTGACATCGTTGGCCCCACATGCAAGCCTACCTGCCATTTAGAAATGGAAGTGAATTGTAAGGTTTCCAATGCAGACTTGTAAGCAGGAGACAGATACCAGCGGGTGACAGCATTGTGACAAGCGCGTGGAGCCATTTCCTGATTGTTTTAGTCGATACAGACTTAGGGAGGAAACCAACACTGACACAAACCAATTGTGCCCTGATCGGGAAACAATGAAGTATCGGGAGTCGCTGTTGAAAGTCTGTAATTTCCAGCGGAATTGCTGTTTAGTCATCATATTGCCGCTGAATGACATAGTGGGGCTGGGTGGAAACTACAATTAGCTGCAGTCACCCTGGTGGGACTGTTTTTTTCCCCCCAGACAATAGAATATGAAGCCATCAACAGCCAATGTTCTGTGCTGCTTGTGAAATGGCCCATTGTTCGTAGCAAGAAGAAAAGAAAGGCGCTGGAGGGTCTTGCCCCAGCCCTGCGGGGGACAGATGGCTGACTTATGGTTTCCTCGCCTCCGTTGTAGCAGAGCAACATACAAGCCAGGCTGAAGAAGCCCCACTTCATTTGCCTTATTTGTGTAAAGAGCTCTCTGGCCGTGGCTGAGAGTGAGGTGGCAAGCCTGCACTGGCCTCGTGGTGCGCAGAATCGCTGGCATTCCTCTTCCCCTGCTGCACGTTCAGGTGCAGAGTGGTGCAGCACTGCGTGGGGTGCTGCTAGATTTTGGGGGAGTCTTCCTTGACGTTGGATCTGCCCACAGCTACTGAAACTTTATTCTGAAAGTGGTTTATCACAGCACTTGCCCTCAGCTGCTAGAGGGGTTTAGTTCTTTCTCTCCTTGGGGTTTCCAAACCCAAATATGTGACCTGACCACCGCATCTGCAGATATGCACGTCATCAGCCTCTCCTCTCTGTGGTGGACGCGTGTTTTCTTTTTGGCAAATTCAAGGTTCTTTACCTTTTTCATCATCACACGAATGACCATCTAACTCTTAGCATTTAGGGAGCAAGCCGCTATTTCCCTGAGATGCTCTGGCTGTGGACTGAATAGATGACTTTACCTGGCAGTATCTGAGACCCCTGACAGCTGAAGCCTAAATGGGAAAGAATCGGGTACTTAGCTTGCTTGAGAAGCAAGACCGCAGATGCTCTTTCATATCTAGCAGTAATCTAAATGCAGGCAATGAACCAACAGCATTTGGCCTCGGTGAACAGCTCTGCCATCGGTCTGTTCTTAACATAGTCATCTAGCGTCTGCGTTAAACTTATTTATTTCCTAATGCTGGGTGATGGATTAAAAGATGTGTAGAAAATCCTTCCACAAGAGATAAGATATTGCAGGCTGCCACGACACCCCTGGCTCTTTTTGCTTTCTGTCTCTGTTTTGCCTACTTTTCAGTGCAGAGCTCAGGCCCCCACATCGTATATCCTGATTACTTTGTGGTTATTACTGAGGGGATGTTTTTTAAGCCTATCATTGACACATTTAATTCATTAGGTACCAAATCCAAAGCAAATTTTGGCTGGCCATAAAACATGGTTAATCCAGGGAGATGCAATAAAAGGTGAAAAATTATGTTCCAGCAAATGTGGAATATTGCTTTTCTGTAGAGACTTTTACTGGTCGATGATATCTTTCTTCATAAATTTTTCTTCTACTTGGTACTCTTGGTAACTTAACCATTTGTTGTTTCCAGACCACAGAATGGCTCAATGATACTCTACAACAGGAAGAAAGTGAAATACAGGAAAGATGGGTATTGCTGGAAAAAGAGGAAAGATGGGAAAACGACCAGAGAGGACCACATGAAACTCAAGGTCCAGGGAGTGGAGGTAAACAGCAGAAAAGGTTCCCTTGGTGCACAAATGTCATTTGCAGGCTGCAGTGGAGAATGGAATTGCTTGGAGTAATTTGATGCGAGTCACCTCTGTCCAAAGAATTTTTGTTTGCCAAGACCCTGGTTTTTGCTTTTGTTTCGTTTTTCTACCTTCTTACCCTATAGTCTCCATTCAAGTTTTCAGTGAAACTGGATTGAACTAAAGCACTCCTGTTTCTTGGGAGTCATTGCTATATAGATGGGGATTTGCAAGTTTCCTGTGGACTCATTTGTTGTATTTATCACGGAAGAGCCTCTGGATGCATTGAGAGTTTGCAAAGTGTCAGGGAAGAGGGGAGGCAGCGTAAGGAACTTCCCTCTTGAGGTGACCCTGGCCTCCCCCTGCCAAGCTGGCAGGCCCCTCACAGAGCCTGGCTTCACCCCCTCCACCGACAAACCCTGGGTGTGTCAGCCTTAATAGAGGTTTGAGATCATTAGATGGGATCACAGGTGTGCATGATTCTTGCATGGTTGGGGTCCTGCAGAAACATCTTGGGATCTTGGGCCGACTTCGGGTTTTGGCCCTTGGGTAAAGACTGGTTTCCTTGCTGTTGTTTTCACCCCACAGACTCTCAACCTTGGGCAGCCATGGAGAAATTCCCTTATTCCTCTTTGCCATCGTTTGAGGGCCTGAGCCATGTGTCACAGCCGTAGAGGGGGAGGGCATGAGTCAAGGTGAAGTCTTGGCCTGCTGGTTAACTAGCATCCACTTCCCTGCGTTCCTAACTGGTCCTGGGAAGGAACTTCCCCTGGGAACAGGGAAGGCATTGCCTTGGGCCCGGAGCTGAGAAGCTGGCTCGTGATCCACCTGTTATTTCGAACGGGTCAAAGAGAGGCATTCTGGAGTCTGTTGGTGTGTTGAGTTTGCGAGCATACAGGATGGATAGCTGGGACCATAAACCCACTTGAATTCAATGTGTTACCCTTCCACGCCAATGTTTTTTGTGACATGCTTTGTCATGATGACTTTTTCCGTATAAATCATGTGCTTTTATGGCTGTTAAAAATAGCACCAAATGGCCTGTATTATATGACCTCACAGAGGGATGACTTTTGTTTTATGTTTTTTTTAAATACCTAATAACAATGCTTTATGGAGATGCAAAAAGAAAAGCCTCTATCCAAGAAATTCCAGTTCCTGCATTCTCCTGTGCTCAGTGTTTGCACAGTGTGGTTTAATTGACTGCACAGAACATTAAAATGCAGATTCCCCCAAACACACTGCTCTGGGCGCACCTCTAGGACGGTGACCGCTGATCGTACAAAGGCATTAGCCATCATCGCAGGGAGCCAAAGGAGGGAGGGCTTGGTTCTTCCTGGGAGGACCCTCATCTCCTACGCTGGAGGGAGAGGTAGAGAGTGAGGCAAGGCTGGGTGGGGCCCCCGAACAACGAGGCTGCTCGCACCGGGAGTAATAGGGCTGCGGGAATTCAAACTGGAAGTCACGGCAGCTCCTGTGCCCGTAGGCCCCTGGTATATTTCATCTTTAGTAATACGTACATCAGGAACTTCTGCTCGTGAGTAACAGCCGGGTGGAATTCTTCCTCAGCAGCAGCTGAGAAGCCGAGGGGAGAAAACAACCCACAGTGTTCGTTTTCTTTCCTCATGTTATAAATTAGAGTTGTCACTGGATGGAATCAGAATGATTTATGGCTATTTGTTAGGCCATATTTGTGTTTGGAGTTATTTGTGTGCTCATACTTGCAGGCAACAGTCTGTCCCCTCAGAACTTCGGGAAAGGGAGACGGGCAGGATGGGGAGGGGTTTCCATGACCTCCTAACATGGATGGCAGTGTGGGCAGCGGGAAGAGCCGGTGACACGATGCTTGCTTTGGGTTCTCAGAGAGAGGCCACCTACTATGATGCATTATGTGGTGGCCTTGCCCGTGAGCTCAGCGAGTTGTCCCACTGAGCCACTCAGCAGATATCGACCCTGTGTGCCTACTCTGTGCAAGGCACTATGGTGTCA
ACCCATCCACAGAAGAAGACCCGGCATTGCCACACTCTCATGAGTGTCTTCATTCTTTTTTTGGAGAGAATGAGCCACACGCAGAGCCCACCTGTTTCATTAAACAAGTTCCCTTGCTTATTCCTTAGGAAGTGGTCCTAAGCACAGTCCGTGGACCTCAGGCACCTTCTAATGGGTCTTTCAGGGGCGGGGAGGGCTTACAGCACGGTGAAGATTAAGGACAAACATCTAGAGAGGGGCTGAAGCGGGAAGAGGCTGACATCGTTGGCCCCACATGCAAGCCTACCTGCCATTTAGAAATGGAAGTGAATTGTAAGGTTTCCAATGCAGACTTGTAAGCAGGAGACAGATACCAGCGGGTGACAGCATTGTGACAAGCGCGTGGAGCCATTTCCTGATTGTTTTAGTCGATACAGACTTAGGGAGGAAACCAACACTGACACAAACCAATTGTGCCCTGATCGGGAAACAATGAAGTATCGGGAGTCGCTGTTGAAAGTCTGTAATTTCCAGCGGAATTGCTGTTTAGTCATCATATTGCCGCTGAATGACATAGTGGGGCTGGGTGGAAACTACAATTAGCTGCAGTCACCCTGGTGGGACTGTTTTTTTCCCCCCAGACAATAGAATATGAAGCCATCAACAGCCAATGTTCTGTGCTGCTTGTGAAATGGCCCATTGTTCGTAGCAAGAAGAAAAGAAAGGCGCTGGAGGGTCTTGCCCCAGCCCTGCGGGGGACAGATGGCTGACTTATGGTTTCCTCGCCTCCGTTGTAGCAGAGCAACATACAAGCCAGGCTGAAGAAGCCCCACTTCATTTGCCTTATTTGTGTAAAGAGCTCTCTGGCCGTGGCTGAGAGTGAGGTGGCAAGCCTGCACTGGCCTCGTGGTGCGCAGAATCGCTGGCATTCCTCTTCCCCTGCTGCACGTTCAGGTGCAGAGTGGTGCAGCACTGCGTGGGGTGCTGCTAGATTTTGGGGGAGTCTTCCTTGACGTTGGATCTGCCCACAGCTACTGAAACTTTATTCTGAAAGTGGTTTATCACAGCACTTGCCCTCAGCTGCTAGAGGGGTTTAGTTCTTTCTCTCCTTGGGGTTTCCAAACCCAAATATGTGACCTGACCACCGCATCTGCAGATATGCACGTCATCAGCCTCTCCTCTCTGTGGTGGACGCGTGTTTTCTTTTTGGCAAATTCAAGGTTCTTTACCTTTTTCATCATCACACGAATGACCATCTAACTCTTAGCATTTAGGGAGCAAGCCGCTATTTCCCTGAGATGCTCTGGCTGTGGACTGAATAGATGACTTTACCTGGCAGTATCTGAGACCCCTGACAGCTGAAGCCTAAATGGGAAAGAATCGGGTACTTAGCTTGCTTGAGAAGCAAGACCGCAGATGCTCTTTCATATCTAGCAGTAATCTAAATGCAGGCAATGAACCAACAGCATTTGGCCTCGGTGAACAGCTCTGCCATCGGTCTGTTCTTAACATAGTCATCTAGCGTCTGCGTTAAACTTATTTATTTCCTAATGCTGGGTGATGGATTAAAAGATGTGTAGAAAATCCTTCCACAAGAGATAAGATATTGCAGGCTGCCACGACACCCCTGGCTCTTTTTGCTTTCTGTCTCTGTTTTGCCTACTTTTCAGTGCAGAGCTCAGGCCCCCACATCGTATATCCTGATTACTTTGTGGTTATTACTGAGGGGATGTTTTTTAAGCCTATCATTGACACATTTAATTCATTAGGTACCAAATCCAAAGCAAATTTTGGCTGGCCATAAAACATGGTTAATCCAGGGAGATGCAATAAAAGGTGAAAAATTATGTTCCAGCAAATGTGGAATATTGCTTTTCTGTAGAGACTTTTACTGGTCGATGATATCTTTCTTCATAAATTTTTCTTCTACTTGGTACTCTTGGTAACTTAACCATTTGTTGTTTCCAGACCACAGAATGGCTCAATGATACTCTACAACAGGAAGAAAGTGAAATACAGGAAAGATGGGTATTGCTGGAAAAAGAGGAAAGATGGGAAAACGACCAGAGGGGACCACATGAAACTCAAGGTCCAGGGAGTGGAGGTAAACAGCAGAAAAGGTTCCCTTGGTGCACAAATGTCATTTGCAGGCTGCAGTGGAGAATGGAATTGCTTGGAGTAATTTGATGCGAGTCACCTCTGTCCAAAGAATTTTTGTTTGCCAAGACCCTGGTTTTTGCTTTTGTTTCGTTTTTCTACCTTCTTACCCTATAGTCTCCATTCAAGTTTTCAGTGAAACTGGATTGAACTAAAGCACTCCTGTTTCTTGGGAGTCATTGCTATATAGATGGGGATTTGCAAGTTTCCTGTGGACTCATTTGTTGTATTTATCACGGAAGAGCCTCTGGATGCATTGAGAGTTTGCAAAGTGTCAGGGAAGAGGGGAGGCAGCGTAAGGAACTTCCCTCTTGAGGTGACCCTGGCCTCCCCCTGCCAAGCTGGCAGGCCCCTCACAGAGCCTGGCTTCACCCCCTCCACCGACAAACCCTGGGTGTGTCAGCCTTAATAGAGGTTTGAGATCATTAGATGGGATCACAGGTGTGCATGATTCTTGCATGGTTGGGGTCCTGCAGAAACATCTTGGGATCTTGGGCCGACTTCGGGTTTTGGCCCTTGGGTAAAGACTGGTTTCCTTGCTGTTGTTTTCACCCCACAGACTCTCAACCTTGGGCAGCCATGGAGAAATTCCCTTATTCCTCTTTGCCATCGTTTGAGGGCCTGAGCCATGTGTCACAGCCGTAGAGGGGGAGGGCATGAGTCAAGGTGAAGTCTTGGCCTGCTGGTTAACTAGCATCCACTTCCCTGCGTTCCTAACTGGTCCTGGGAAGGAACTTCCCCTGGGAACAGGGAAGGCATTGCCTTGGGCCCGGAGCTGAGAAGCTGGCTCGTGATCCACCTGTTATTTCGAACGGGTCAAAGAGAGGCATTCTGGAGTCTGTTGGTGTGTTGAGTTTGCGAGCATACAGGATGGATAGCTGGGACCATAAACCCACTTGAATTCAATGTGTTACCCTTCCACGCCAATGTTTTTTGTGACATGCTTTGTCATGATGACTTTTTCCGTATAAATCATGTGCTTTTATGGCTGTTAAAAATAGCACCAAATGGCCTGTATTATATGACCTCACAGAGGGATGACTTTTGTTTTATGTTTTTTTTAAATACCTAATAACAATGCTTTATGGAGATGCAAAAAGAAAAGCCTCTATCCAAGAAATTCCAGTTCCTGCATTCTCCTGTGCTCAGTGTTTGCACAGTGTGGTTTAATTGACTGCACAGAACATTAAAATGCAGATTCCCCCAAACACACTGCTCTGGGCGCACCTCTAGGACGGTGACCGCTGATCGTACAAAGGCATTAGCCATCATCGCAGGGAGCCAAAGGAGGGAGGGCTTGGTTCTTCCTGGGAGGACCCTCATCTCCTACGCTGGAGGGAGAGGTAGAGAGTGAGGCAAGGCTGGGTGGGGCCCCCGAACAACGAGGCTGCTCGCACCGGGAGTAATAGGGCTGCGGGAATTCAAACTGGAAGTCACGGCAGCTCCTGTGCCCGTAGGCCCCTGGTATATTTCATCTTTAGTAATACGTACATCAGGAACTTCTGCTCGTGAGTAACAGCCGGGTGGAATTCTTCCTCAGCAGCAGCTGAGAAGCCGAGGGGAGAAAACAACCCACAGTGTTCGTTTTCTTTCCTCATGTTATAAATTAGAGTTGTCACTGGATGGAATCAGAATGATTTATGGCTATTTGTTAGGCCATATTTGTGTTTGGAGTTATTTGTGTGCTCATACTTGCAGGCAACAGTCTGTCCCCTCAGAACTTCGGGAAAGGGAGACGGGCAGGATGGGGAGGGGTTTCCATGACCTCCTAACATGGATGGCAGTGTGGGCAGCGGGAAGAGCCGGTGACACGATGCTTGCTTTGGGTTCTCAGAGAGAGGCCACCTACTATGATGCATTATGTGGTGGCCTTGCCCGTGAGCTCAGCGAGTTGTCCCACTGAGCCACTCAGCAGATATCGACCCTGTGTGCCTACTCTGTGCAAGGCACTATGGTGTCA
Task1_train_80
The gene CAMTA1 (calmodulin binding transcription activator 1), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
CCCGGCATTGCCACACTCTCATGAGTGTCTTCATTCTTTTTTTGGAGAGAATGAGCCACACGCAGAGCCCACCTGTTTCATTAAACAAGTTCCCTTGCTTATTCCTTAGGAAGTGGTCCTAAGCACAGTCCGTGGACCTCAGGCACCTTCTAATGGGTCTTTCAGGGGCGGGGAGGGCTTACAGCACGGTGAAGATTAAGGACAAACATCTAGAGAGGGGCTGAAGCGGGAAGAGGCTGACATCGTTGGCCCCACATGCAAGCCTACCTGCCATTTAGAAATGGAAGTGAATTGTAAGGTTTCCAATGCAGACTTGTAAGCAGGAGACAGATACCAGCGGGTGACAGCATTGTGACAAGCGCGTGGAGCCATTTCCTGATTGTTTTAGTCGATACAGACTTAGGGAGGAAACCAACACTGACACAAACCAATTGTGCCCTGATCGGGAAACAATGAAGTATCGGGAGTCGCTGTTGAAAGTCTGTAATTTCCAGCGGAATTGCTGTTTAGTCATCATATTGCCGCTGAATGACATAGTGGGGCTGGGTGGAAACTACAATTAGCTGCAGTCACCCTGGTGGGACTGTTTTTTTCCCCCCAGACAATAGAATATGAAGCCATCAACAGCCAATGTTCTGTGCTGCTTGTGAAATGGCCCATTGTTCGTAGCAAGAAGAAAAGAAAGGCGCTGGAGGGTCTTGCCCCAGCCCTGCGGGGGACAGATGGCTGACTTATGGTTTCCTCGCCTCCGTTGTAGCAGAGCAACATACAAGCCAGGCTGAAGAAGCCCCACTTCATTTGCCTTATTTGTGTAAAGAGCTCTCTGGCCGTGGCTGAGAGTGAGGTGGCAAGCCTGCACTGGCCTCGTGGTGCGCAGAATCGCTGGCATTCCTCTTCCCCTGCTGCACGTTCAGGTGCAGAGTGGTGCAGCACTGCGTGGGGTGCTGCTAGATTTTGGGGGAGTCTTCCTTGACGTTGGATCTGCCCACAGCTACTGAAACTTTATTCTGAAAGTGGTTTATCACAGCACTTGCCCTCAGCTGCTAGAGGGGTTTAGTTCTTTCTCTCCTTGGGGTTTCCAAACCCAAATATGTGACCTGACCACCGCATCTGCAGATATGCACGTCATCAGCCTCTCCTCTCTGTGGTGGACGCGTGTTTTCTTTTTGGCAAATTCAAGGTTCTTTACCTTTTTCATCATCACACGAATGACCATCTAACTCTTAGCATTTAGGGAGCAAGCCGCTATTTCCCTGAGATGCTCTGGCTGTGGACTGAATAGATGACTTTACCTGGCAGTATCTGAGACCCCTGACAGCTGAAGCCTAAATGGGAAAGAATCGGGTACTTAGCTTGCTTGAGAAGCAAGACCGCAGATGCTCTTTCATATCTAGCAGTAATCTAAATGCAGGCAATGAACCAACAGCATTTGGCCTCGGTGAACAGCTCTGCCATCGGTCTGTTCTTAACATAGTCATCTAGCGTCTGCGTTAAACTTATTTATTTCCTAATGCTGGGTGATGGATTAAAAGATGTGTAGAAAATCCTTCCACAAGAGATAAGATATTGCAGGCTGCCACGACACCCCTGGCTCTTTTTGCTTTCTGTCTCTGTTTTGCCTACTTTTCAGTGCAGAGCTCAGGCCCCCACATCGTATATCCTGATTACTTTGTGGTTATTACTGAGGGGATGTTTTTTAAGCCTATCATTGACACATTTAATTCATTAGGTACCAAATCCAAAGCAAATTTTGGCTGGCCATAAAACATGGTTAATCCAGGGAGATGCAATAAAAGGTGAAAAATTATGTTCCAGCAAATGTGGAATATTGCTTTTCTGTAGAGACTTTTACTGGTCGATGATATCTTTCTTCATAAATTTTTCTTCTACTTGGTACTCTTGGTAACTTAACCATTTGTTGTTTCCAGACCACAGAATGGCTCAATGATACTCTACAACAGGAAGAAAGTGAAATACAGGAAAGATGGGTATTGCTGGAAAAAGAGGAAAGATGGGAAAACGACCAGAGAGGACCACATGAAACTCAAGGTCCAGGGAGTGGAGGTAAACAGCAGAAAAGGTTCCCTTGGTGCACAAATGTCATTTGCAGGCTGCAGTGGAGAATGGAATTGCTTGGAGTAATTTGATGCGAGTCACCTCTGTCCAAAGAATTTTTGTTTGCCAAGACCCTGGTTTTTGCTTTTGTTTCGTTTTTCTACCTTCTTACCCTATAGTCTCCATTCAAGTTTTCAGTGAAACTGGATTGAACTAAAGCACTCCTGTTTCTTGGGAGTCATTGCTATATAGATGGGGATTTGCAAGTTTCCTGTGGACTCATTTGTTGTATTTATCACGGAAGAGCCTCTGGATGCATTGAGAGTTTGCAAAGTGTCAGGGAAGAGGGGAGGCAGCGTAAGGAACTTCCCTCTTGAGGTGACCCTGGCCTCCCCCTGCCAAGCTGGCAGGCCCCTCACAGAGCCTGGCTTCACCCCCTCCACCGACAAACCCTGGGTGTGTCAGCCTTAATAGAGGTTTGAGATCATTAGATGGGATCACAGGTGTGCATGATTCTTGCATGGTTGGGGTCCTGCAGAAACATCTTGGGATCTTGGGCCGACTTCGGGTTTTGGCCCTTGGGTAAAGACTGGTTTCCTTGCTGTTGTTTTCACCCCACAGACTCTCAACCTTGGGCAGCCATGGAGAAATTCCCTTATTCCTCTTTGCCATCGTTTGAGGGCCTGAGCCATGTGTCACAGCCGTAGAGGGGGAGGGCATGAGTCAAGGTGAAGTCTTGGCCTGCTGGTTAACTAGCATCCACTTCCCTGCGTTCCTAACTGGTCCTGGGAAGGAACTTCCCCTGGGAACAGGGAAGGCATTGCCTTGGGCCCGGAGCTGAGAAGCTGGCTCGTGATCCACCTGTTATTTCGAACGGGTCAAAGAGAGGCATTCTGGAGTCTGTTGGTGTGTTGAGTTTGCGAGCATACAGGATGGATAGCTGGGACCATAAACCCACTTGAATTCAATGTGTTACCCTTCCACGCCAATGTTTTTTGTGACATGCTTTGTCATGATGACTTTTTCCGTATAAATCATGTGCTTTTATGGCTGTTAAAAATAGCACCAAATGGCCTGTATTATATGACCTCACAGAGGGATGACTTTTGTTTTATGTTTTTTTTAAATACCTAATAACAATGCTTTATGGAGATGCAAAAAGAAAAGCCTCTATCCAAGAAATTCCAGTTCCTGCATTCTCCTGTGCTCAGTGTTTGCACAGTGTGGTTTAATTGACTGCACAGAACATTAAAATGCAGATTCCCCCAAACACACTGCTCTGGGCGCACCTCTAGGACGGTGACCGCTGATCGTACAAAGGCATTAGCCATCATCGCAGGGAGCCAAAGGAGGGAGGGCTTGGTTCTTCCTGGGAGGACCCTCATCTCCTACGCTGGAGGGAGAGGTAGAGAGTGAGGCAAGGCTGGGTGGGGCCCCCGAACAACGAGGCTGCTCGCACCGGGAGTAATAGGGCTGCGGGAATTCAAACTGGAAGTCACGGCAGCTCCTGTGCCCGTAGGCCCCTGGTATATTTCATCTTTAGTAATACGTACATCAGGAACTTCTGCTCGTGAGTAACAGCCGGGTGGAATTCTTCCTCAGCAGCAGCTGAGAAGCCGAGGGGAGAAAACAACCCACAGTGTTCGTTTTCTTTCCTCATGTTATAAATTAGAGTTGTCACTGGATGGAATCAGAATGATTTATGGCTATTTGTTAGGCCATATTTGTGTTTGGAGTTATTTGTGTGCTCATACTTGCAGGCAACAGTCTGTCCCCTCAGAACTTCGGGAAAGGGAGACGGGCAGGATGGGGAGGGGTTTCCATGACCTCCTAACATGGATGGCAGTGTGGGCAGCGGGAAGAGCCGGTGACACGATGCTTGCTTTGGGTTCTCAGAGAGAGGCCACCTACTATGATGCATTATGTGGTGGCCTTGCCCGTGAGCTCAGCGAGTTGTCCCACTGAGCCACTCAGCAGATATCGACCCTGTGTGCCTACTCTGTGCAAGGCACTATGGTGTCAGCAGAGAGAACAGGAGTCA
CCCGGCATTGCCACACTCTCATGAGTGTCTTCATTCTTTTTTTGGAGAGAATGAGCCACACGCAGAGCCCACCTGTTTCATTAAACAAGTTCCCTTGCTTATTCCTTAGGAAGTGGTCCTAAGCACAGTCCGTGGACCTCAGGCACCTTCTAATGGGTCTTTCAGGGGCGGGGAGGGCTTACAGCACGGTGAAGATTAAGGACAAACATCTAGAGAGGGGCTGAAGCGGGAAGAGGCTGACATCGTTGGCCCCACATGCAAGCCTACCTGCCATTTAGAAATGGAAGTGAATTGTAAGGTTTCCAATGCAGACTTGTAAGCAGGAGACAGATACCAGCGGGTGACAGCATTGTGACAAGCGCGTGGAGCCATTTCCTGATTGTTTTAGTCGATACAGACTTAGGGAGGAAACCAACACTGACACAAACCAATTGTGCCCTGATCGGGAAACAATGAAGTATCGGGAGTCGCTGTTGAAAGTCTGTAATTTCCAGCGGAATTGCTGTTTAGTCATCATATTGCCGCTGAATGACATAGTGGGGCTGGGTGGAAACTACAATTAGCTGCAGTCACCCTGGTGGGACTGTTTTTTTCCCCCCAGACAATAGAATATGAAGCCATCAACAGCCAATGTTCTGTGCTGCTTGTGAAATGGCCCATTGTTCGTAGCAAGAAGAAAAGAAAGGCGCTGGAGGGTCTTGCCCCAGCCCTGCGGGGGACAGATGGCTGACTTATGGTTTCCTCGCCTCCGTTGTAGCAGAGCAACATACAAGCCAGGCTGAAGAAGCCCCACTTCATTTGCCTTATTTGTGTAAAGAGCTCTCTGGCCGTGGCTGAGAGTGAGGTGGCAAGCCTGCACTGGCCTCGTGGTGCGCAGAATCGCTGGCATTCCTCTTCCCCTGCTGCACGTTCAGGTGCAGAGTGGTGCAGCACTGCGTGGGGTGCTGCTAGATTTTGGGGGAGTCTTCCTTGACGTTGGATCTGCCCACAGCTACTGAAACTTTATTCTGAAAGTGGTTTATCACAGCACTTGCCCTCAGCTGCTAGAGGGGTTTAGTTCTTTCTCTCCTTGGGGTTTCCAAACCCAAATATGTGACCTGACCACCGCATCTGCAGATATGCACGTCATCAGCCTCTCCTCTCTGTGGTGGACGCGTGTTTTCTTTTTGGCAAATTCAAGGTTCTTTACCTTTTTCATCATCACACGAATGACCATCTAACTCTTAGCATTTAGGGAGCAAGCCGCTATTTCCCTGAGATGCTCTGGCTGTGGACTGAATAGATGACTTTACCTGGCAGTATCTGAGACCCCTGACAGCTGAAGCCTAAATGGGAAAGAATCGGGTACTTAGCTTGCTTGAGAAGCAAGACCGCAGATGCTCTTTCATATCTAGCAGTAATCTAAATGCAGGCAATGAACCAACAGCATTTGGCCTCGGTGAACAGCTCTGCCATCGGTCTGTTCTTAACATAGTCATCTAGCGTCTGCGTTAAACTTATTTATTTCCTAATGCTGGGTGATGGATTAAAAGATGTGTAGAAAATCCTTCCACAAGAGATAAGATATTGCAGGCTGCCACGACACCCCTGGCTCTTTTTGCTTTCTGTCTCTGTTTTGCCTACTTTTCAGTGCAGAGCTCAGGCCCCCACATCGTATATCCTGATTACTTTGTGGTTATTACTGAGGGGATGTTTTTTAAGCCTATCATTGACACATTTAATTCATTAGGTACCAAATCCAAAGCAAATTTTGGCTGGCCATAAAACATGGTTAATCCAGGGAGATGCAATAAAAGGTGAAAAATTATGTTCCAGCAAATGTGGAATATTGCTTTTCTGTAGAGACTTTTACTGGTCGATGATATCTTTCTTCATAAATTTTTCTTCTACTTGGTACTCTTGGTAACTTAACCATTTGTTGTTTCCAGACCACAGAATGGCTCAATGATACTCTACAACAGGAAGAAAGTGAAATACAGGAAAGATGGGTATTGCTGGAAAAAGAGGAAAGATGGGAAAACGACCAGAGAGGACCACATGAAACTCAACGTCCAGGGAGTGGAGGTAAACAGCAGAAAAGGTTCCCTTGGTGCACAAATGTCATTTGCAGGCTGCAGTGGAGAATGGAATTGCTTGGAGTAATTTGATGCGAGTCACCTCTGTCCAAAGAATTTTTGTTTGCCAAGACCCTGGTTTTTGCTTTTGTTTCGTTTTTCTACCTTCTTACCCTATAGTCTCCATTCAAGTTTTCAGTGAAACTGGATTGAACTAAAGCACTCCTGTTTCTTGGGAGTCATTGCTATATAGATGGGGATTTGCAAGTTTCCTGTGGACTCATTTGTTGTATTTATCACGGAAGAGCCTCTGGATGCATTGAGAGTTTGCAAAGTGTCAGGGAAGAGGGGAGGCAGCGTAAGGAACTTCCCTCTTGAGGTGACCCTGGCCTCCCCCTGCCAAGCTGGCAGGCCCCTCACAGAGCCTGGCTTCACCCCCTCCACCGACAAACCCTGGGTGTGTCAGCCTTAATAGAGGTTTGAGATCATTAGATGGGATCACAGGTGTGCATGATTCTTGCATGGTTGGGGTCCTGCAGAAACATCTTGGGATCTTGGGCCGACTTCGGGTTTTGGCCCTTGGGTAAAGACTGGTTTCCTTGCTGTTGTTTTCACCCCACAGACTCTCAACCTTGGGCAGCCATGGAGAAATTCCCTTATTCCTCTTTGCCATCGTTTGAGGGCCTGAGCCATGTGTCACAGCCGTAGAGGGGGAGGGCATGAGTCAAGGTGAAGTCTTGGCCTGCTGGTTAACTAGCATCCACTTCCCTGCGTTCCTAACTGGTCCTGGGAAGGAACTTCCCCTGGGAACAGGGAAGGCATTGCCTTGGGCCCGGAGCTGAGAAGCTGGCTCGTGATCCACCTGTTATTTCGAACGGGTCAAAGAGAGGCATTCTGGAGTCTGTTGGTGTGTTGAGTTTGCGAGCATACAGGATGGATAGCTGGGACCATAAACCCACTTGAATTCAATGTGTTACCCTTCCACGCCAATGTTTTTTGTGACATGCTTTGTCATGATGACTTTTTCCGTATAAATCATGTGCTTTTATGGCTGTTAAAAATAGCACCAAATGGCCTGTATTATATGACCTCACAGAGGGATGACTTTTGTTTTATGTTTTTTTTAAATACCTAATAACAATGCTTTATGGAGATGCAAAAAGAAAAGCCTCTATCCAAGAAATTCCAGTTCCTGCATTCTCCTGTGCTCAGTGTTTGCACAGTGTGGTTTAATTGACTGCACAGAACATTAAAATGCAGATTCCCCCAAACACACTGCTCTGGGCGCACCTCTAGGACGGTGACCGCTGATCGTACAAAGGCATTAGCCATCATCGCAGGGAGCCAAAGGAGGGAGGGCTTGGTTCTTCCTGGGAGGACCCTCATCTCCTACGCTGGAGGGAGAGGTAGAGAGTGAGGCAAGGCTGGGTGGGGCCCCCGAACAACGAGGCTGCTCGCACCGGGAGTAATAGGGCTGCGGGAATTCAAACTGGAAGTCACGGCAGCTCCTGTGCCCGTAGGCCCCTGGTATATTTCATCTTTAGTAATACGTACATCAGGAACTTCTGCTCGTGAGTAACAGCCGGGTGGAATTCTTCCTCAGCAGCAGCTGAGAAGCCGAGGGGAGAAAACAACCCACAGTGTTCGTTTTCTTTCCTCATGTTATAAATTAGAGTTGTCACTGGATGGAATCAGAATGATTTATGGCTATTTGTTAGGCCATATTTGTGTTTGGAGTTATTTGTGTGCTCATACTTGCAGGCAACAGTCTGTCCCCTCAGAACTTCGGGAAAGGGAGACGGGCAGGATGGGGAGGGGTTTCCATGACCTCCTAACATGGATGGCAGTGTGGGCAGCGGGAAGAGCCGGTGACACGATGCTTGCTTTGGGTTCTCAGAGAGAGGCCACCTACTATGATGCATTATGTGGTGGCCTTGCCCGTGAGCTCAGCGAGTTGTCCCACTGAGCCACTCAGCAGATATCGACCCTGTGTGCCTACTCTGTGCAAGGCACTATGGTGTCAGCAGAGAGAACAGGAGTCA
Task1_train_81
Gene PER3 (period circadian regulator 3) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Advanced sleep phase syndrome 3
GGAAAAGGTATTTAATCAGGTGAAGGAGAAAATACGTGTAAAGCACTTGGAATAATAAGGATTTTCAAAATGTCAGGTATTCTTCTATGTTATAAAAACTAGTACAGGCTGGGTGCAGTGGCACACTCCTGTAATGCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGTGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCGCCTGAACCTGGGTGGCAAAGATTGCAGTGAACCAAGATTATGCTACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACTAGTATAGTACAGTGCCTGTCACATAGAAGGTCCCAAGTAAACATCAGTTCCTTCCCTTCTTTGTAATCCTCTCTGTTGGCATGTGTGCCATTCACTGTATTCAGGTCATAGATTGAAGATGCTCTAAAATTTGAGTATAAATAAGACCGAAGGTATTGTAATAGCTACATTTTCACCACTAGGGTGGGTTGCAGAACTGTCTTAATTAGATAGCTTAAGTGTTAGGTGCAATAAACATTAAATGTTGTTTGGAAAACTTGGGGTCTTTAAAATTCTTAGAGTAAGTTACAGTTACTCAGTTACTGTCAAATTTTGAAACCAGTTATTTGCTGAAGATATTTTAGTAGCTAAGGAGGTTACTTGTCCCTGATTTCAGATTTGTACATATATAGCACTGAAACCATTACAGAAAGATGAGTGCTTTAGAGAAACTTAAGGGGCCTGTTAATGTCTCATTTGTTTCTTATTATTTTCTGTACCTTCATGAATAGAATTCTAGCCTCATATTTTTTCTTTGGAGTCAAAGAATTGTTTTGTAAAAGCATAGATCTATTCTTGGAATAGTCTATTAAAAATCACTTTCGACTTCATTTAAATTGTTTGACTCAGTCTCTCACTGGGCATTTTCTAGGAGCCCACTAAATGAGGATGTTTTTGCTACCAAAATTAAAAAGATGAACGATAATGACAAAGACATAACAGAATTACAAGAACAAATTTACAAACTTCTCTTACAGGTAAGGTGAGATTGTTAAAAATGCAAAGTTCCCTGAATTGTGTTTTGTTTTAATGCTCAGTAAATTCACTTCACAAAAATAAACTGTAAAGGGAGACAAATCTTTGCCCTCTACATTCCAGAAATTTTTGTCTTTCTCTTTTCGTTTTTAAATTAAATTTTATTCTTTGTTCCTTATTCTGTGTTACACAGAATATTTTTGTAAGAACCCATTGTAAGACAGCAAACCACGTGACTGAGAGAATTATTACATTCCAAAGGCACCAGCGTGCTCAGCCTTTGGGTTTTGGCTTCAGGATTTTTAAAATAATTTCAGTTTTAAAGATGGGAGGAGAGGGATGGTAGGTCTCAGTTTCTCTTAACTATTGTAAGGTAAAAGTGGGAAAATGTATGTGTTGAAATAACTAAAGGTGTTTTCTACAAGAGATTCAATGAATAAGTGGTAAATAGAACTAATGGTGTCGTGTAGAGTAACTGTCCTCGGTGGTTTTCAGAATGTCTCCCATAAAATCTCTAGGGTGCATGAAATACCTGCCACGTTCTTGGAAAAAGTATAATATATAGTTAGTTTGTTCTCTGTATTCTAAACTGGGCATAAAGAACTAGAGTTTATTTTCCTGTTTTAAAAAATTAATTATACTATGGCTTTTTAACAATATGTTGTCCTGGAAATACCTACCTAGACTAGAACATAAGACCTTGCTCTTGAAAATTGCCGAAATGACAGAGGAGTGCCTTTCGTGTCAGCATCAGCATTAAAAGTACCAACCTGCACACACCTAATTTAGTATTTCAGGAATTGTCATCTTAATTTTTACATGATTCTAGATGAGCTCTGCGGTGGCTGCATTTGAACAGCCAGCAATTCTGGACTTGTTCCTCTTTGTCCTTCCAGCCAGTTCACGTGAGCGTGTCCAGCGGCTACGGGAGCCTGGGGAGCAGCGGGTCGCAGGAGCAGCTTGTCAGCATCGCCTCCTCCAGTGAGGCCAGTGGGCACCGTGTGGAGGAGACGAAGGCGGAGCAGGTGCATGGGCTTATGTCACATTCTTATACAGGCATCGTGTTTTCTGTACTACCTCGGTTCTGAATGTGGTGACATCTTAGTATATATTCCTGACTTGAAGACCTCAACTGATAACAGATATTTTCATCCATTTTGGTTTGGAAAAAAAAGTCTGTAAAAAGAAAATATCACCTTTGGAAAGTGATATTTGAATTAATTGTATGCGTTCTAAAAATTAGCATATTGTGAACAGATTTATTTAGAATTTGTTGGTACCAGTATACTGTGGCATGGTGCAGGAAACTGGATTAAAGTGATTACTGTGCTTCAGTCATTATATCTTCAAAGAAACAGAAGCTAAGTGTATTTTGTTTATGTATCTTTTAGTGGACATTTTTATAATTTTTGAAACATATTTTATCATTCCTTTCCCTAAGATGACCTTGCAGCAGGTCTATGCCAGTGTGAACAAAATTAAAAATCTGGGTCAGCAGCTCTACATTGAGTCAATGACCAAATCATCATTCAAGCCAGTGACGGGGACACGCACAGAACCGAATGGTGGTGGTGAGTCAGCGAATGGTGGTGGTGAGTCAGCCGGCAGCCCCAAGGATCTCCTTCCATGGGCTGTCACTCTCTGCATAGACGTCATGTATGTGATTCGTGAGCATAAAGTCATGACCCTGTGTTGCTGCTTTTCATATTTCTTGATTTGCCTAGATAGCAATAGTAATAGCAATAGTAGTAATAATAATGGCAGCAACAAATACTGTTCTGAAAGGAAATGGTATTAGAATGTATTTGTAACAGTTGCAGTTCACTTTTACTGAAGAATTAACTTCTCTGTAAATACCAACGAATTATAGATTTCCCTCCCTACATGGGCATCTCTTTAAACAAAAAGAGTGGATTTTAGAATGCATTTTAAATAATAAAGTATATTAAAATGAAAATCCCTTTCTGTCATTTCAAACAGAAAATCTTTGTGACCTAAATTCAGTGAAAAACTTTGGCTCTTTTCTTGACATGTATTTACTTTTCTCAAATACAAGGTAAGGAGCACTCAAAAAGAGCTGGATCAGTAGTAAAACTGGCATCATATTGAAAAGTTAACCTAGTTGCATTGTATGGCATAGGGGATGTTCAATAATATAGAAATCAAATTAGATTGACATTTAAATTTAGCTAACTTTCCCTTCATTTTTCTTCCTGAATGTTAATATAACTTGGAAGTTGTGATGGATCTTGGTCACTAAATGTTATTAACCTCTATCATTGTCAAATGTAGACGTTTTACACAGTGGGGTGAAATTTTTGAGGTCAATAATGATAACAGCTATATGCTTCAGGACTTGACATGATTTACACCACAGAAAGTCAAACTGCTGCTCCCAGAGGTGACATCACTGGGAACTTTCTTAGTTTGTACTGCTGTAACAAAATACCTGTGACTAGATAATGGATAAAGAACAGAAACCTATTTCTTACAGTTTTGGAGGCGAGGAAGTCCAAGATCAGGGCACCGGCAGGTTCAGTGTCTAGCGAGGGCCAGGTCTGTGCTTCTCAGAGAACATCACTTCCTTGAAGGGGACAAACGCTGTGTCCTCACATGGCACAAGGGACAGAAAGGCAGAAAGAGACTTAGCTAGTTCCTTCTAGCCCTTTTGAAAGGTTGCAAATCCCATTCATGAGAACAGAGTCCTCATGACTTTGTCACTTCCTAAAGGCCGTGGCTGTTCACTGTCACATTGAGTTTTAAGTTGCAACATAGGAGTCATGGGGGACACACACATTCAAACCATAGTAGAGCCCATTGGACTCCCCAGACAGAGCAAGTCCTGTTCTTTCATTTTTTTTCTTTTCACCTCGATAGGAAGTTGAGCATTCCATTGGTTTCTTCTGCTGTTACATGTAAGGGCACAAGATAGGAATCACAGCTG
GGAAAAGGTATTTAATCAGGTGAAGGAGAAAATACGTGTAAAGCACTTGGAATAATAAGGATTTTCAAAATGTCAGGTATTCTTCTATGTTATAAAAACTAGTACAGGCTGGGTGCAGTGGCACACTCCTGTAATGCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGTGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCGCCTGAACCTGGGTGGCAAAGATTGCAGTGAACCAAGATTATGCTACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACTAGTATAGTACAGTGCCTGTCACATAGAAGGTCCCAAGTAAACATCAGTTCCTTCCCTTCTTTGTAATCCTCTCTGTTGGCATGTGTGCCATTCACTGTATTCAGGTCATAGATTGAAGATGCTCTAAAATTTGAGTATAAATAAGACCGAAGGTATTGTAATAGCTACATTTTCACCACTAGGGTGGGTTGCAGAACTGTCTTAATTAGATAGCTTAAGTGTTAGGTGCAATAAACATTAAATGTTGTTTGGAAAACTTGGGGTCTTTAAAATTCTTAGAGTAAGTTACAGTTACTCAGTTACTGTCAAATTTTGAAACCAGTTATTTGCTGAAGATATTTTAGTAGCTAAGGAGGTTACTTGTCCCTGATTTCAGATTTGTACATATATAGCACTGAAACCATTACAGAAAGATGAGTGCTTTAGAGAAACTTAAGGGGCCTGTTAATGTCTCATTTGTTTCTTATTATTTTCTGTACCTTCATGAATAGAATTCTAGCCTCATATTTTTTCTTTGGAGTCAAAGAATTGTTTTGTAAAAGCATAGATCTATTCTTGGAATAGTCTATTAAAAATCACTTTCGACTTCATTTAAATTGTTTGACTCAGTCTCTCACTGGGCATTTTCTAGGAGCCCACTAAATGAGGATGTTTTTGCTACCAAAATTAAAAAGATGAACGATAATGACAAAGACATAACAGAATTACAAGAACAAATTTACAAACTTCTCTTACAGGTAAGGTGAGATTGTTAAAAATGCAAAGTTCCCTGAATTGTGTTTTGTTTTAATGCTCAGTAAATTCACTTCACAAAAATAAACTGTAAAGGGAGACAAATCTTTGCCCTCTACATTCCAGAAATTTTTGTCTTTCTCTTTTCGTTTTTAAATTAAATTTTATTCTTTGTTCCTTATTCTGTGTTACACAGAATATTTTTGTAAGAACCCATTGTAAGACAGCAAACCACGTGACTGAGAGAATTATTACATTCCAAAGGCACCAGCGTGCTCAGCCTTTGGGTTTTGGCTTCAGGATTTTTAAAATAATTTCAGTTTTAAAGATGGGAGGAGAGGGATGGTAGGTCTCAGTTTCTCTTAACTATTGTAAGGTAAAAGTGGGAAAATGTATGTGTTGAAATAACTAAAGGTGTTTTCTACAAGAGATTCAATGAATAAGTGGTAAATAGAACTAATGGTGTCGTGTAGAGTAACTGTCCTCGGTGGTTTTCAGAATGTCTCCCATAAAATCTCTAGGGTGCATGAAATACCTGCCACGTTCTTGGAAAAAGTATAATATATAGTTAGTTTGTTCTCTGTATTCTAAACTGGGCATAAAGAACTAGAGTTTATTTTCCTGTTTTAAAAAATTAATTATACTATGGCTTTTTAACAATATGTTGTCCTGGAAATACCTACCTAGACTAGAACATAAGACCTTGCTCTTGAAAATTGCCGAAATGACAGAGGAGTGCCTTTCGTGTCAGCATCAGCATTAAAAGTACCAACCTGCACACACCTAATTTAGTATTTCAGGAATTGTCATCTTAATTTTTACATGATTCTAGATGAGCTCTGCGGTGGCTGCATTTGAACAGCCAGCAATTCTGGACTTGTTCCTCTTTGTCCTTCCAGGCAGTTCACGTGAGCGTGTCCAGCGGCTACGGGAGCCTGGGGAGCAGCGGGTCGCAGGAGCAGCTTGTCAGCATCGCCTCCTCCAGTGAGGCCAGTGGGCACCGTGTGGAGGAGACGAAGGCGGAGCAGGTGCATGGGCTTATGTCACATTCTTATACAGGCATCGTGTTTTCTGTACTACCTCGGTTCTGAATGTGGTGACATCTTAGTATATATTCCTGACTTGAAGACCTCAACTGATAACAGATATTTTCATCCATTTTGGTTTGGAAAAAAAAGTCTGTAAAAAGAAAATATCACCTTTGGAAAGTGATATTTGAATTAATTGTATGCGTTCTAAAAATTAGCATATTGTGAACAGATTTATTTAGAATTTGTTGGTACCAGTATACTGTGGCATGGTGCAGGAAACTGGATTAAAGTGATTACTGTGCTTCAGTCATTATATCTTCAAAGAAACAGAAGCTAAGTGTATTTTGTTTATGTATCTTTTAGTGGACATTTTTATAATTTTTGAAACATATTTTATCATTCCTTTCCCTAAGATGACCTTGCAGCAGGTCTATGCCAGTGTGAACAAAATTAAAAATCTGGGTCAGCAGCTCTACATTGAGTCAATGACCAAATCATCATTCAAGCCAGTGACGGGGACACGCACAGAACCGAATGGTGGTGGTGAGTCAGCGAATGGTGGTGGTGAGTCAGCCGGCAGCCCCAAGGATCTCCTTCCATGGGCTGTCACTCTCTGCATAGACGTCATGTATGTGATTCGTGAGCATAAAGTCATGACCCTGTGTTGCTGCTTTTCATATTTCTTGATTTGCCTAGATAGCAATAGTAATAGCAATAGTAGTAATAATAATGGCAGCAACAAATACTGTTCTGAAAGGAAATGGTATTAGAATGTATTTGTAACAGTTGCAGTTCACTTTTACTGAAGAATTAACTTCTCTGTAAATACCAACGAATTATAGATTTCCCTCCCTACATGGGCATCTCTTTAAACAAAAAGAGTGGATTTTAGAATGCATTTTAAATAATAAAGTATATTAAAATGAAAATCCCTTTCTGTCATTTCAAACAGAAAATCTTTGTGACCTAAATTCAGTGAAAAACTTTGGCTCTTTTCTTGACATGTATTTACTTTTCTCAAATACAAGGTAAGGAGCACTCAAAAAGAGCTGGATCAGTAGTAAAACTGGCATCATATTGAAAAGTTAACCTAGTTGCATTGTATGGCATAGGGGATGTTCAATAATATAGAAATCAAATTAGATTGACATTTAAATTTAGCTAACTTTCCCTTCATTTTTCTTCCTGAATGTTAATATAACTTGGAAGTTGTGATGGATCTTGGTCACTAAATGTTATTAACCTCTATCATTGTCAAATGTAGACGTTTTACACAGTGGGGTGAAATTTTTGAGGTCAATAATGATAACAGCTATATGCTTCAGGACTTGACATGATTTACACCACAGAAAGTCAAACTGCTGCTCCCAGAGGTGACATCACTGGGAACTTTCTTAGTTTGTACTGCTGTAACAAAATACCTGTGACTAGATAATGGATAAAGAACAGAAACCTATTTCTTACAGTTTTGGAGGCGAGGAAGTCCAAGATCAGGGCACCGGCAGGTTCAGTGTCTAGCGAGGGCCAGGTCTGTGCTTCTCAGAGAACATCACTTCCTTGAAGGGGACAAACGCTGTGTCCTCACATGGCACAAGGGACAGAAAGGCAGAAAGAGACTTAGCTAGTTCCTTCTAGCCCTTTTGAAAGGTTGCAAATCCCATTCATGAGAACAGAGTCCTCATGACTTTGTCACTTCCTAAAGGCCGTGGCTGTTCACTGTCACATTGAGTTTTAAGTTGCAACATAGGAGTCATGGGGGACACACACATTCAAACCATAGTAGAGCCCATTGGACTCCCCAGACAGAGCAAGTCCTGTTCTTTCATTTTTTTTCTTTTCACCTCGATAGGAAGTTGAGCATTCCATTGGTTTCTTCTGCTGTTACATGTAAGGGCACAAGATAGGAATCACAGCTG
Task1_train_82
This genomic variant is located on Chromosome 1, within the PER3 (period circadian regulator 3) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Advanced sleep phase syndrome 3
GTATTTAATCAGGTGAAGGAGAAAATACGTGTAAAGCACTTGGAATAATAAGGATTTTCAAAATGTCAGGTATTCTTCTATGTTATAAAAACTAGTACAGGCTGGGTGCAGTGGCACACTCCTGTAATGCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGTGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCGCCTGAACCTGGGTGGCAAAGATTGCAGTGAACCAAGATTATGCTACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACTAGTATAGTACAGTGCCTGTCACATAGAAGGTCCCAAGTAAACATCAGTTCCTTCCCTTCTTTGTAATCCTCTCTGTTGGCATGTGTGCCATTCACTGTATTCAGGTCATAGATTGAAGATGCTCTAAAATTTGAGTATAAATAAGACCGAAGGTATTGTAATAGCTACATTTTCACCACTAGGGTGGGTTGCAGAACTGTCTTAATTAGATAGCTTAAGTGTTAGGTGCAATAAACATTAAATGTTGTTTGGAAAACTTGGGGTCTTTAAAATTCTTAGAGTAAGTTACAGTTACTCAGTTACTGTCAAATTTTGAAACCAGTTATTTGCTGAAGATATTTTAGTAGCTAAGGAGGTTACTTGTCCCTGATTTCAGATTTGTACATATATAGCACTGAAACCATTACAGAAAGATGAGTGCTTTAGAGAAACTTAAGGGGCCTGTTAATGTCTCATTTGTTTCTTATTATTTTCTGTACCTTCATGAATAGAATTCTAGCCTCATATTTTTTCTTTGGAGTCAAAGAATTGTTTTGTAAAAGCATAGATCTATTCTTGGAATAGTCTATTAAAAATCACTTTCGACTTCATTTAAATTGTTTGACTCAGTCTCTCACTGGGCATTTTCTAGGAGCCCACTAAATGAGGATGTTTTTGCTACCAAAATTAAAAAGATGAACGATAATGACAAAGACATAACAGAATTACAAGAACAAATTTACAAACTTCTCTTACAGGTAAGGTGAGATTGTTAAAAATGCAAAGTTCCCTGAATTGTGTTTTGTTTTAATGCTCAGTAAATTCACTTCACAAAAATAAACTGTAAAGGGAGACAAATCTTTGCCCTCTACATTCCAGAAATTTTTGTCTTTCTCTTTTCGTTTTTAAATTAAATTTTATTCTTTGTTCCTTATTCTGTGTTACACAGAATATTTTTGTAAGAACCCATTGTAAGACAGCAAACCACGTGACTGAGAGAATTATTACATTCCAAAGGCACCAGCGTGCTCAGCCTTTGGGTTTTGGCTTCAGGATTTTTAAAATAATTTCAGTTTTAAAGATGGGAGGAGAGGGATGGTAGGTCTCAGTTTCTCTTAACTATTGTAAGGTAAAAGTGGGAAAATGTATGTGTTGAAATAACTAAAGGTGTTTTCTACAAGAGATTCAATGAATAAGTGGTAAATAGAACTAATGGTGTCGTGTAGAGTAACTGTCCTCGGTGGTTTTCAGAATGTCTCCCATAAAATCTCTAGGGTGCATGAAATACCTGCCACGTTCTTGGAAAAAGTATAATATATAGTTAGTTTGTTCTCTGTATTCTAAACTGGGCATAAAGAACTAGAGTTTATTTTCCTGTTTTAAAAAATTAATTATACTATGGCTTTTTAACAATATGTTGTCCTGGAAATACCTACCTAGACTAGAACATAAGACCTTGCTCTTGAAAATTGCCGAAATGACAGAGGAGTGCCTTTCGTGTCAGCATCAGCATTAAAAGTACCAACCTGCACACACCTAATTTAGTATTTCAGGAATTGTCATCTTAATTTTTACATGATTCTAGATGAGCTCTGCGGTGGCTGCATTTGAACAGCCAGCAATTCTGGACTTGTTCCTCTTTGTCCTTCCAGCCAGTTCACGTGAGCGTGTCCAGCGGCTACGGGAGCCTGGGGAGCAGCGGGTCGCAGGAGCAGCTTGTCAGCATCGCCTCCTCCAGTGAGGCCAGTGGGCACCGTGTGGAGGAGACGAAGGCGGAGCAGGTGCATGGGCTTATGTCACATTCTTATACAGGCATCGTGTTTTCTGTACTACCTCGGTTCTGAATGTGGTGACATCTTAGTATATATTCCTGACTTGAAGACCTCAACTGATAACAGATATTTTCATCCATTTTGGTTTGGAAAAAAAAGTCTGTAAAAAGAAAATATCACCTTTGGAAAGTGATATTTGAATTAATTGTATGCGTTCTAAAAATTAGCATATTGTGAACAGATTTATTTAGAATTTGTTGGTACCAGTATACTGTGGCATGGTGCAGGAAACTGGATTAAAGTGATTACTGTGCTTCAGTCATTATATCTTCAAAGAAACAGAAGCTAAGTGTATTTTGTTTATGTATCTTTTAGTGGACATTTTTATAATTTTTGAAACATATTTTATCATTCCTTTCCCTAAGATGACCTTGCAGCAGGTCTATGCCAGTGTGAACAAAATTAAAAATCTGGGTCAGCAGCTCTACATTGAGTCAATGACCAAATCATCATTCAAGCCAGTGACGGGGACACGCACAGAACCGAATGGTGGTGGTGAGTCAGCGAATGGTGGTGGTGAGTCAGCCGGCAGCCCCAAGGATCTCCTTCCATGGGCTGTCACTCTCTGCATAGACGTCATGTATGTGATTCGTGAGCATAAAGTCATGACCCTGTGTTGCTGCTTTTCATATTTCTTGATTTGCCTAGATAGCAATAGTAATAGCAATAGTAGTAATAATAATGGCAGCAACAAATACTGTTCTGAAAGGAAATGGTATTAGAATGTATTTGTAACAGTTGCAGTTCACTTTTACTGAAGAATTAACTTCTCTGTAAATACCAACGAATTATAGATTTCCCTCCCTACATGGGCATCTCTTTAAACAAAAAGAGTGGATTTTAGAATGCATTTTAAATAATAAAGTATATTAAAATGAAAATCCCTTTCTGTCATTTCAAACAGAAAATCTTTGTGACCTAAATTCAGTGAAAAACTTTGGCTCTTTTCTTGACATGTATTTACTTTTCTCAAATACAAGGTAAGGAGCACTCAAAAAGAGCTGGATCAGTAGTAAAACTGGCATCATATTGAAAAGTTAACCTAGTTGCATTGTATGGCATAGGGGATGTTCAATAATATAGAAATCAAATTAGATTGACATTTAAATTTAGCTAACTTTCCCTTCATTTTTCTTCCTGAATGTTAATATAACTTGGAAGTTGTGATGGATCTTGGTCACTAAATGTTATTAACCTCTATCATTGTCAAATGTAGACGTTTTACACAGTGGGGTGAAATTTTTGAGGTCAATAATGATAACAGCTATATGCTTCAGGACTTGACATGATTTACACCACAGAAAGTCAAACTGCTGCTCCCAGAGGTGACATCACTGGGAACTTTCTTAGTTTGTACTGCTGTAACAAAATACCTGTGACTAGATAATGGATAAAGAACAGAAACCTATTTCTTACAGTTTTGGAGGCGAGGAAGTCCAAGATCAGGGCACCGGCAGGTTCAGTGTCTAGCGAGGGCCAGGTCTGTGCTTCTCAGAGAACATCACTTCCTTGAAGGGGACAAACGCTGTGTCCTCACATGGCACAAGGGACAGAAAGGCAGAAAGAGACTTAGCTAGTTCCTTCTAGCCCTTTTGAAAGGTTGCAAATCCCATTCATGAGAACAGAGTCCTCATGACTTTGTCACTTCCTAAAGGCCGTGGCTGTTCACTGTCACATTGAGTTTTAAGTTGCAACATAGGAGTCATGGGGGACACACACATTCAAACCATAGTAGAGCCCATTGGACTCCCCAGACAGAGCAAGTCCTGTTCTTTCATTTTTTTTCTTTTCACCTCGATAGGAAGTTGAGCATTCCATTGGTTTCTTCTGCTGTTACATGTAAGGGCACAAGATAGGAATCACAGCTGCTTTTTT
GTATTTAATCAGGTGAAGGAGAAAATACGTGTAAAGCACTTGGAATAATAAGGATTTTCAAAATGTCAGGTATTCTTCTATGTTATAAAAACTAGTACAGGCTGGGTGCAGTGGCACACTCCTGTAATGCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGTGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCGCCTGAACCTGGGTGGCAAAGATTGCAGTGAACCAAGATTATGCTACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACTAGTATAGTACAGTGCCTGTCACATAGAAGGTCCCAAGTAAACATCAGTTCCTTCCCTTCTTTGTAATCCTCTCTGTTGGCATGTGTGCCATTCACTGTATTCAGGTCATAGATTGAAGATGCTCTAAAATTTGAGTATAAATAAGACCGAAGGTATTGTAATAGCTACATTTTCACCACTAGGGTGGGTTGCAGAACTGTCTTAATTAGATAGCTTAAGTGTTAGGTGCAATAAACATTAAATGTTGTTTGGAAAACTTGGGGTCTTTAAAATTCTTAGAGTAAGTTACAGTTACTCAGTTACTGTCAAATTTTGAAACCAGTTATTTGCTGAAGATATTTTAGTAGCTAAGGAGGTTACTTGTCCCTGATTTCAGATTTGTACATATATAGCACTGAAACCATTACAGAAAGATGAGTGCTTTAGAGAAACTTAAGGGGCCTGTTAATGTCTCATTTGTTTCTTATTATTTTCTGTACCTTCATGAATAGAATTCTAGCCTCATATTTTTTCTTTGGAGTCAAAGAATTGTTTTGTAAAAGCATAGATCTATTCTTGGAATAGTCTATTAAAAATCACTTTCGACTTCATTTAAATTGTTTGACTCAGTCTCTCACTGGGCATTTTCTAGGAGCCCACTAAATGAGGATGTTTTTGCTACCAAAATTAAAAAGATGAACGATAATGACAAAGACATAACAGAATTACAAGAACAAATTTACAAACTTCTCTTACAGGTAAGGTGAGATTGTTAAAAATGCAAAGTTCCCTGAATTGTGTTTTGTTTTAATGCTCAGTAAATTCACTTCACAAAAATAAACTGTAAAGGGAGACAAATCTTTGCCCTCTACATTCCAGAAATTTTTGTCTTTCTCTTTTCGTTTTTAAATTAAATTTTATTCTTTGTTCCTTATTCTGTGTTACACAGAATATTTTTGTAAGAACCCATTGTAAGACAGCAAACCACGTGACTGAGAGAATTATTACATTCCAAAGGCACCAGCGTGCTCAGCCTTTGGGTTTTGGCTTCAGGATTTTTAAAATAATTTCAGTTTTAAAGATGGGAGGAGAGGGATGGTAGGTCTCAGTTTCTCTTAACTATTGTAAGGTAAAAGTGGGAAAATGTATGTGTTGAAATAACTAAAGGTGTTTTCTACAAGAGATTCAATGAATAAGTGGTAAATAGAACTAATGGTGTCGTGTAGAGTAACTGTCCTCGGTGGTTTTCAGAATGTCTCCCATAAAATCTCTAGGGTGCATGAAATACCTGCCACGTTCTTGGAAAAAGTATAATATATAGTTAGTTTGTTCTCTGTATTCTAAACTGGGCATAAAGAACTAGAGTTTATTTTCCTGTTTTAAAAAATTAATTATACTATGGCTTTTTAACAATATGTTGTCCTGGAAATACCTACCTAGACTAGAACATAAGACCTTGCTCTTGAAAATTGCCGAAATGACAGAGGAGTGCCTTTCGTGTCAGCATCAGCATTAAAAGTACCAACCTGCACACACCTAATTTAGTATTTCAGGAATTGTCATCTTAATTTTTACATGATTCTAGATGAGCTCTGCGGTGGCTGCATTTGAACAGCCAGCAATTCTGGACTTGTTCCTCTTTGTCCTTCCAGCCAGTTCGCGTGAGCGTGTCCAGCGGCTACGGGAGCCTGGGGAGCAGCGGGTCGCAGGAGCAGCTTGTCAGCATCGCCTCCTCCAGTGAGGCCAGTGGGCACCGTGTGGAGGAGACGAAGGCGGAGCAGGTGCATGGGCTTATGTCACATTCTTATACAGGCATCGTGTTTTCTGTACTACCTCGGTTCTGAATGTGGTGACATCTTAGTATATATTCCTGACTTGAAGACCTCAACTGATAACAGATATTTTCATCCATTTTGGTTTGGAAAAAAAAGTCTGTAAAAAGAAAATATCACCTTTGGAAAGTGATATTTGAATTAATTGTATGCGTTCTAAAAATTAGCATATTGTGAACAGATTTATTTAGAATTTGTTGGTACCAGTATACTGTGGCATGGTGCAGGAAACTGGATTAAAGTGATTACTGTGCTTCAGTCATTATATCTTCAAAGAAACAGAAGCTAAGTGTATTTTGTTTATGTATCTTTTAGTGGACATTTTTATAATTTTTGAAACATATTTTATCATTCCTTTCCCTAAGATGACCTTGCAGCAGGTCTATGCCAGTGTGAACAAAATTAAAAATCTGGGTCAGCAGCTCTACATTGAGTCAATGACCAAATCATCATTCAAGCCAGTGACGGGGACACGCACAGAACCGAATGGTGGTGGTGAGTCAGCGAATGGTGGTGGTGAGTCAGCCGGCAGCCCCAAGGATCTCCTTCCATGGGCTGTCACTCTCTGCATAGACGTCATGTATGTGATTCGTGAGCATAAAGTCATGACCCTGTGTTGCTGCTTTTCATATTTCTTGATTTGCCTAGATAGCAATAGTAATAGCAATAGTAGTAATAATAATGGCAGCAACAAATACTGTTCTGAAAGGAAATGGTATTAGAATGTATTTGTAACAGTTGCAGTTCACTTTTACTGAAGAATTAACTTCTCTGTAAATACCAACGAATTATAGATTTCCCTCCCTACATGGGCATCTCTTTAAACAAAAAGAGTGGATTTTAGAATGCATTTTAAATAATAAAGTATATTAAAATGAAAATCCCTTTCTGTCATTTCAAACAGAAAATCTTTGTGACCTAAATTCAGTGAAAAACTTTGGCTCTTTTCTTGACATGTATTTACTTTTCTCAAATACAAGGTAAGGAGCACTCAAAAAGAGCTGGATCAGTAGTAAAACTGGCATCATATTGAAAAGTTAACCTAGTTGCATTGTATGGCATAGGGGATGTTCAATAATATAGAAATCAAATTAGATTGACATTTAAATTTAGCTAACTTTCCCTTCATTTTTCTTCCTGAATGTTAATATAACTTGGAAGTTGTGATGGATCTTGGTCACTAAATGTTATTAACCTCTATCATTGTCAAATGTAGACGTTTTACACAGTGGGGTGAAATTTTTGAGGTCAATAATGATAACAGCTATATGCTTCAGGACTTGACATGATTTACACCACAGAAAGTCAAACTGCTGCTCCCAGAGGTGACATCACTGGGAACTTTCTTAGTTTGTACTGCTGTAACAAAATACCTGTGACTAGATAATGGATAAAGAACAGAAACCTATTTCTTACAGTTTTGGAGGCGAGGAAGTCCAAGATCAGGGCACCGGCAGGTTCAGTGTCTAGCGAGGGCCAGGTCTGTGCTTCTCAGAGAACATCACTTCCTTGAAGGGGACAAACGCTGTGTCCTCACATGGCACAAGGGACAGAAAGGCAGAAAGAGACTTAGCTAGTTCCTTCTAGCCCTTTTGAAAGGTTGCAAATCCCATTCATGAGAACAGAGTCCTCATGACTTTGTCACTTCCTAAAGGCCGTGGCTGTTCACTGTCACATTGAGTTTTAAGTTGCAACATAGGAGTCATGGGGGACACACACATTCAAACCATAGTAGAGCCCATTGGACTCCCCAGACAGAGCAAGTCCTGTTCTTTCATTTTTTTTCTTTTCACCTCGATAGGAAGTTGAGCATTCCATTGGTTTCTTCTGCTGTTACATGTAAGGGCACAAGATAGGAATCACAGCTGCTTTTTT
Task1_train_83
A variant was discovered on Chromosome 1, affecting TNFRSF9 (TNF receptor superfamily member 9). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Immunodeficiency 109 with lymphoproliferation
AGCACTTTGGGAGGCCAAGGCAAGCGGATCACTTGAGGTCAGGAGTGCGAGACCAGCCTGGCTAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAGCACTAGCCAGGCGTGGTTGTGTGCACCTGTAATCCCAGCTACTAGGAGGCCGAGGCAGGAGAATCTCTTGAACCCAGGAGGCAGAGTTTGCAGTGAGGCGAGACCGTGCCATTGCACTCCAGCCTGGGCAAGAAGAGCGAAACTCCATCTCAAAACAAACAAACAAACAAACAAACAAAACAAACAAACAGACCTTTTTAAAAAAGCCACTTTCCAAAGACAGAATTCAGCTAAGTCCGAGAAAATAGTCAATACTTTTCTTGTGAATCATGATTCCATTCGTCAGCCACTCTGATGCTGATAAATTATAAATGACAAAAGCAGAGAGATACCATGATTCCTGTTTCAAAACACTTTATTTTCTCTCAAAAAAGTCACTTTCCAGTCTGTTACAAACCAATACACTTTTGAAATACAATAAAAATGTAAAAGTAAAATAATAAAAATGATTTTCTAGTAAGAAAATGAAACGGAAAAAGAACAAATACATATAAAATACAACGCCCAAATTTTTATTCTTAGTCAACAGACCACATTACTCTGCCAATTTGCCTTAAAAGTTTCTAAATGTTTACTCTCTAACCCTACACCACTGTCGATGGGGACACAGGACAAGCCATTTGTGGACCAGCACCCATCCACAGACCACAGTGTAAGTTCTGGTTCCACAAAACAACAGTCACATTCTCTCGTATACTATTGGCTTTTTACCACCTGTGATGGCCTTGTGTGCCCAAGTCTGTGCCACATTTTGGAGGGTAACGAGCAATTGTTAGTTTCTTCTGTATCATTCTAGGGGCTGGCATTGAACACATGGAGACAGGCTGATCAATGAGAGAAGATAAGAGGCAGCAAAGGAATGAGAAGGAAACAGAAAAGAGGCAGACAGCGGCAAAGTTCCACTGGCAATTCTTTTCCTTTCTTTTGAGACAGGCTCTCTGCTCTGGAGTGCGATGGTGCGATCATAGCTCATTGCAGCCTCAACCTCCCAGACTCAGGTGATCCTCCTGCCTCATCAGCCTTCCCTATAGCTGGGACCACAGGCATGTGCCATTATGCCTGGCTAATTTTTTGATTTTTTGTAGAGACAGGGTCTCACCCAGGCTGGTTTTGAACTCCTGGGCTCAAGGAGTCCTCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTGCACGTGCCCAGCCTCCACTGGCAATTCTGATCTAGATGTTCCAGGCACTATTTCTGGAGAAAATGCCCACTTTGCCTATTGAGTTGCTACGACCTCACAGTGTTCCCACGCTGCCTATTAGTATGTTACATTCTGTCTACACTTGATGGGTGCAAAAAAGCTTCAATGATAGCATTCCTTATCTTCCAAAAAATTTAACCCAGATTCTTTATTCCATAAACTAAAGGAAATTATACGTACTTTGTCCAGGGTCGACAGATGCCACGTTTCTGATCGTTAAATGTCCCAAAGCAACAGTCTTTACAACCTTGTATTAAAAATGAAAGCAATAATAAAAGGGAAGCATTTTCATCATTTTGTAACTTTTCCTGTGATGAACTTAATATAAGTCATTACCATAATGCAATCTGCACAAATTGTTCAATAATTCTTGAAACAACACCCTAAGATGGCTAGTTTTTATTTTAATTGTACATAAAGTATTGTATATGTCTGGAACATGTGAAGATTAATGGTTCTGGCAATTAACAAATGTTCTGATTTCAAATTATTTCCATTTATGAAGAAATAACGGAAATATTTTATTAATTGAAATATTTTATTAATTAAAATATGATATATCATATACTCCCTTGTTACTTTAAGGTTCTACAAATCTGTTTGTTTATTTTCAAAGGATCAAGATCAAAGCTAAGTTTGTCTATGTCACAAAACTACACTAGATCAAAGAAACGCAAACGTACCTTTTTTTGTCAGTTCTTGACCTTGTTTACAATCCTGTTCACACATGCTGCATCCTGCCCCCAGGCAGTGAAACCCTGGAGTGCAGTCACACTCTGCATTGCTGGTGGAGGAACACTCCTTCCTGGTCCTGAAAACACCTACAAAGTCCCCCCAGCCCCCAACATTTTATTACACTTGACCTCCAAATCCAGGAAGCGAATTTATGCTCTGCAGTAAAAATCATGCTCACTCTACTTATAGTGTTCCCAGTAATTTTAAAGTTTACTTTTAAATCTCCATAAAGACATTTTTACATTTAGGTAAGTAAAAACTTCTCTCTTGTCAAATGAATGTTTCCTCTAATATTTAGAAAGCTCAGTCCACAAATAATTGCTGTCACTGGATATTATTGTCCTAGACCTGCTGGTTGGCAGAAGAATCAGTCTTTGACACTTGAGATTTTCAAAAGAGAGCAGTTAGTAAATGGGAAAGAAAAGCTTATCTTCCCAACTATCTTCTAGAAGAAGAAAATATCTTTGAACTCATACCTTTACACTGCCTGCATATGTCACAGGTCCTTTGTCCACCTGCGCTGGAGAAACTATTTGGAGGACAGGGACTGCAAATCTGATTCCTGTTATTATCACAGAATGTACCTAAGAAAGGCAGACAATAGTGGTACACGTTTGACAATGGGCAATCGTCACCCAAGGCATTCCGAAGTTTACAATAAAATAAGATTATAAAAGAATGATGAGTTTTCTAGATGCCACAGTGGTGGACATTAGTTTGATTGACTTCCTAAAACAATACATTTGCAAGATTATTCTTTGTGTAATCACAGAATTAGAAATAACAAAATACAGGCCAGGTGCAGTGGCTCACGCCTGTAATCACAGCACTTTGGGAGGCCGAAGCGGGCAGATCACCTGAGGTCAGCAGTTCAAGACCAGCTTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGCAGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCCAAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGTGTCTCAAAAAAAAAAAAAAAAACATACACACACAAAAAAAACAAAAAAACCAGATATTGTAACAAATAAATCAACAGAAAGAAAATACTTTATCTATTGAATAAAACAAAATGATTATCTTGATTGATGTAGGAGATGAATATGACTGGATCCAGGAGGACATCAATGTCCTACACTAAAATTTAAATGCGACTGACCGTCCCCACTCTGTTAAGCCCTTTACTACGCGCTTACTCGCTGCTATGCCCCCAGTCGGAGCACAAAGCCCTACACACAAAACTAACATTTATTGAAGTCTTGCCTTGTGCCATGCACTGTTCTAAGCCCTTCATTTGATCCTCCCAGCCATCCTATAAAACAGGTTCTCTTATTATCCCCAGATGAGAAAGTCAAGGCACAAGAGGTTGAATGACTTTGCTGTGTTCACACAGCTAGGTTGTAGCATCCAATAAACATTTGTAAATGAATGAATTTTCATTTTCCTTTCCTTAAAAGGGAGCTCGTTAGCCCTGACTACTAGACTAACTGAACCATACTTCCAACAGAGCAGATCAAATGCACATGATAACTGGGTACTCACCAGCTGGGCAGTTACTACAAGGATCCTGCAATGATCTTGTCCTCTCAAAGTTGAGGACCAGCAACAGAGTGGCTACTATGTTGTAACAGCTGTTTCCCATGATGAAATCTGGCACAGGTATGATACTAGCAAAGCTGATTCCAAGAGAATTTTAATCAAATTAGCTGGTCTCACAAATGTCACTCTGCAAAAGATAAACATTTCCAAGGAAAGGTGGTTTCTCCTTTCAAAATTATCTATATTGCAATCATTACTTATACAATTCTATAAGAGGATAACTCAGGGTTTTTCAGGAACAATTAATGATGCAATATTACGGAAAAGTAGCAGATTCATAGAAACCACTAGGACAAGGCAGGCGTGATTA
AGCACTTTGGGAGGCCAAGGCAAGCGGATCACTTGAGGTCAGGAGTGCGAGACCAGCCTGGCTAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAGCACTAGCCAGGCGTGGTTGTGTGCACCTGTAATCCCAGCTACTAGGAGGCCGAGGCAGGAGAATCTCTTGAACCCAGGAGGCAGAGTTTGCAGTGAGGCGAGACCGTGCCATTGCACTCCAGCCTGGGCAAGAAGAGCGAAACTCCATCTCAAAACAAACAAACAAACAAACAAACAAAACAAACAAACAGACCTTTTTAAAAAAGCCACTTTCCAAAGACAGAATTCAGCTAAGTCCGAGAAAATAGTCAATACTTTTCTTGTGAATCATGATTCCATTCGTCAGCCACTCTGATGCTGATAAATTATAAATGACAAAAGCAGAGAGATACCATGATTCCTGTTTCAAAACACTTTATTTTCTCTCAAAAAAGTCACTTTCCAGTCTGTTACAAACCAATACACTTTTGAAATACAATAAAAATGTAAAAGTAAAATAATAAAAATGATTTTCTAGTAAGAAAATGAAACGGAAAAAGAACAAATACATATAAAATACAACGCCCAAATTTTTATTCTTAGTCAACAGACCACATTACTCTGCCAATTTGCCTTAAAAGTTTCTAAATGTTTACTCTCTAACCCTACACCACTGTCGATGGGGACACAGGACAAGCCATTTGTGGACCAGCACCCATCCACAGACCACAGTGTAAGTTCTGGTTCCACAAAACAACAGTCACATTCTCTCGTATACTATTGGCTTTTTACCACCTGTGATGGCCTTGTGTGCCCAAGTCTGTGCCACATTTTGGAGGGTAACGAGCAATTGTTAGTTTCTTCTGTATCATTCTAGGGGCTGGCATTGAACACATGGAGACAGGCTGATCAATGAGAGAAGATAAGAGGCAGCAAAGGAATGAGAAGGAAACAGAAAAGAGGCAGACAGCGGCAAAGTTCCACTGGCAATTCTTTTCCTTTCTTTTGAGACAGGCTCTCTGCTCTGGAGTGCGATGGTGCGATCATAGCTCATTGCAGCCTCAACCTCCCAGACTCAGGTGATCCTCCTGCCTCATCAGCCTTCCCTATAGCTGGGACCACAGGCATGTGCCATTATGCCTGGCTAATTTTTTGATTTTTTGTAGAGACAGGGTCTCACCCAGGCTGGTTTTGAACTCCTGGGCTCAAGGAGTCCTCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTGCACGTGCCCAGCCTCCACTGGCAATTCTGATCTAGATGTTCCAGGCACTATTTCTGGAGAAAATGCCCACTTTGCCTATTGAGTTGCTACGACCTCACAGTGTTCCCACGCTGCCTATTAGTATGTTACATTCTGTCTACACTTGATGGGTGCAAAAAAGCTTCAATGATAGCATTCCTTATCTTCCAAAAAATTTAACCCAGATTCTTTATTCCATAAACTAAAGGAAATTATACGTACTTTGTCCAGGGTCGACAGATGCCACGTTTCTGATCGTTAAATGTCCCAAAGCAACAGTCTTTACAACCTTGTATTAAAAATGAAAGCAATAATAAAAGGGAAGCATTTTCATCATTTTGTAACTTTTCCTGTGATGAACTTAATATAAGTCATTACCATAATGCAATCTGCACAAATTGTTCAATAATTCTTGAAACAACACCCTAAGATGGCTAGTTTTTATTTTAATTGTACATAAAGTATTGTATATGTCTGGAACATGTGAAGATTAATGGTTCTGGCAATTAACAAATGTTCTGATTTCAAATTATTTCCATTTATGAAGAAATAACGGAAATATTTTATTAATTGAAATATTTTATTAATTAAAATATGATATATCATATACTCCCTTGTTACTTTAAGGTTCTACAAATCTGTTTGTTTATTTTCAAAGGATCAAGATCAAAGCTAAGTTTGTCTATGTCACAAAACTACACTAGATCAAAGAAACGCAAACGTACCTTTTTTTGTCAGTTCTTGACTTTGTTTACAATCCTGTTCACACATGCTGCATCCTGCCCCCAGGCAGTGAAACCCTGGAGTGCAGTCACACTCTGCATTGCTGGTGGAGGAACACTCCTTCCTGGTCCTGAAAACACCTACAAAGTCCCCCCAGCCCCCAACATTTTATTACACTTGACCTCCAAATCCAGGAAGCGAATTTATGCTCTGCAGTAAAAATCATGCTCACTCTACTTATAGTGTTCCCAGTAATTTTAAAGTTTACTTTTAAATCTCCATAAAGACATTTTTACATTTAGGTAAGTAAAAACTTCTCTCTTGTCAAATGAATGTTTCCTCTAATATTTAGAAAGCTCAGTCCACAAATAATTGCTGTCACTGGATATTATTGTCCTAGACCTGCTGGTTGGCAGAAGAATCAGTCTTTGACACTTGAGATTTTCAAAAGAGAGCAGTTAGTAAATGGGAAAGAAAAGCTTATCTTCCCAACTATCTTCTAGAAGAAGAAAATATCTTTGAACTCATACCTTTACACTGCCTGCATATGTCACAGGTCCTTTGTCCACCTGCGCTGGAGAAACTATTTGGAGGACAGGGACTGCAAATCTGATTCCTGTTATTATCACAGAATGTACCTAAGAAAGGCAGACAATAGTGGTACACGTTTGACAATGGGCAATCGTCACCCAAGGCATTCCGAAGTTTACAATAAAATAAGATTATAAAAGAATGATGAGTTTTCTAGATGCCACAGTGGTGGACATTAGTTTGATTGACTTCCTAAAACAATACATTTGCAAGATTATTCTTTGTGTAATCACAGAATTAGAAATAACAAAATACAGGCCAGGTGCAGTGGCTCACGCCTGTAATCACAGCACTTTGGGAGGCCGAAGCGGGCAGATCACCTGAGGTCAGCAGTTCAAGACCAGCTTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGCAGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCCAAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGTGTCTCAAAAAAAAAAAAAAAAACATACACACACAAAAAAAACAAAAAAACCAGATATTGTAACAAATAAATCAACAGAAAGAAAATACTTTATCTATTGAATAAAACAAAATGATTATCTTGATTGATGTAGGAGATGAATATGACTGGATCCAGGAGGACATCAATGTCCTACACTAAAATTTAAATGCGACTGACCGTCCCCACTCTGTTAAGCCCTTTACTACGCGCTTACTCGCTGCTATGCCCCCAGTCGGAGCACAAAGCCCTACACACAAAACTAACATTTATTGAAGTCTTGCCTTGTGCCATGCACTGTTCTAAGCCCTTCATTTGATCCTCCCAGCCATCCTATAAAACAGGTTCTCTTATTATCCCCAGATGAGAAAGTCAAGGCACAAGAGGTTGAATGACTTTGCTGTGTTCACACAGCTAGGTTGTAGCATCCAATAAACATTTGTAAATGAATGAATTTTCATTTTCCTTTCCTTAAAAGGGAGCTCGTTAGCCCTGACTACTAGACTAACTGAACCATACTTCCAACAGAGCAGATCAAATGCACATGATAACTGGGTACTCACCAGCTGGGCAGTTACTACAAGGATCCTGCAATGATCTTGTCCTCTCAAAGTTGAGGACCAGCAACAGAGTGGCTACTATGTTGTAACAGCTGTTTCCCATGATGAAATCTGGCACAGGTATGATACTAGCAAAGCTGATTCCAAGAGAATTTTAATCAAATTAGCTGGTCTCACAAATGTCACTCTGCAAAAGATAAACATTTCCAAGGAAAGGTGGTTTCTCCTTTCAAAATTATCTATATTGCAATCATTACTTATACAATTCTATAAGAGGATAACTCAGGGTTTTTCAGGAACAATTAATGATGCAATATTACGGAAAAGTAGCAGATTCATAGAAACCACTAGGACAAGGCAGGCGTGATTA
Task1_train_84
Given a variant located on Chromosome 1 and affecting PARK7 (Parkinsonism associated deglycase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Autosomal recessive early-onset Parkinson disease 7
TTGATGGTCACCAGGTGATCTGTGCTCTCCTTAAGAGGGAATAAGACCTAGCGTTGGCAGAGTTCTGTAGGGTGACTATAGTTAACAGTAATCTGTTGTATATTTTAAAATGTTATTATTGAAGAGAGTAACTGGAATGTTCCCAGTATAAAGACAAATGTTTAAGGTGATAGAGATCTCATTTACCCTGATTTAATCATTACACATTATATGAAAGTATCAAAATACCACATGTACCCAGAAAACACATACGTCTCTTACATATCAATAAATACAACTTGAGATTATGATGTAAATACATCTGACCAACTTGGTACTTATTAGACTTATGTGCGCAGCACTGCTCTAGTCCTGTGGGTGCAGCAGCATCAGGATCGTTAAAGAAAACAAACAATGCTGAGAAAAAAACTCACACCCCTGAGACATCCGGGTGTGAATAAATGCGGCAGAGTCGCCCGAGATCGGGAGACCAGGCGTGGGGGAGAGGTCCGGGAGGCCTGGACCAGAGTCCTAACAGACCAGAGGCGAAACGGGAAGGCGCGCCAGAAAAGGAACAACGCAAAGGGAGCAGGCGTGCACGGAGCGCGAACTAAGGAACCCCTCTGACAACCCCAGTCCCTCGGCAGTTCCAGAGACCGGCTCCTCACGGAGGGTGGCGGTAGAGACTGTTAAGCCCCGCGGGCGCCGGGGCAGGCCGGACTGTGCCATTCGTGGGGGGTACCATGTGGGACCGAGCCGCCTCACCCAGGGCTGTCCAGCTAGAAACTCCCCGGTGCCACCCCCGCCTCAGTCCGAGGTAGACTCGGCCGGACGTGACGCAGCGTGAGGCCAAGGCGGCGTGAGTCTGCGCAGTGTGGGGCTGAGGGAGGCCGGACGGCGCGCGTGCGTGCTGGCGTGCGTTCATTTTCAGCCTGGTGTGGGGTGAGTGGTACCCAACGGGCCGGGGCGCCGCGTCCGCAGGAAGAGGCGCGGGGTGCAGGTCAGCGCCAGCGGGGGCGCGGCGCATGTGTGGGCCGTGGCGCTGGGCGGCGTGGGGGTGCTGGACGGTGTCCCTGTGCTGGACGGTGTCCCGCTGGCTCAGAACCGGCGCGGGGCCTGGGTCGGGGCCGCCCTCGCTTCCGGCCTCCCAGTCGGGCCCTGTCGCTGGCGTTGGATTTGACTGACCGCCAGCGTGGTGGCAACGCTGAAGCGTCCAGAATCTTCTGCCTAACCTCTCGCCGGCATGGAACTGGCTAGCCGTTTTATTAAACTCTGTTTTGCGTGGACGGTAAACCCTCCAGATAATCTGTAAATAGGCTAAAAAAAATTCGGAACCTCGTTGAGCTGCTGTCGTTGGCAGTGAGAACTCCGCGCAGAGAGACAGATGTAGTTGGGTTGACTTCAGTGAGGGGATTTCCATCTTTCTCAGTCATTAAAAAAAGTGTTCAGACATTTAACACTGTTGACCCCCACACACAATTTTTTAGTACAGTTATAACTAAGAAAACAAAAATCCCCTCCAAAAAATTACAAGTTAATTGCGAAAGACCACATTTAAATTTTTGCCCATGAAATTCAGTTTAGTCGTTTCTCTGAAACAGTGCTTCAAAAAAGACTGTTTCCCCGCATTGTGTGAAATGCAGGAGACCCACGTACTTGTATTTTTAAAAAACCCATTTGCAACATACTATTAAAGTTGGATTTAAGAGAACATGGTAGAAGAAAATCTAAGCAATACTACACCTTTTAGCACCCTCATTATGTTTTCATCTCAGAGCAATTAAAACTGCTATACAAATCAACGTTAAGATAACTAAACTGCTGCTTTTTTCGTATTCAGTTGTCTATGAAAACCGTTTCCCTAGGAAGTACTTACTCTGCTTGAAAATGCTCCTAAACTTTAAATTTTGGGGTATCTCAGGGTTGCAATGAAAGTTTTTTGAAATCTTTTTTTTTTTTTTTTTTTAAGGCTTGTAAACATATAACATAAAAATGGCTTCCAAAAGAGCTCTGGTCATCCTGGCTAAAGGAGCAGAGGAAATGGAGACGGTCATCCCTGTAGATGTCATGAGGCGAGCTGGGGTAAGTCCCACATCGATTTTTAGCCATTCCTGTTTTAAATGTTTTTGGATTTTTAAATCATTTTGAATAAAATATTCAAAGTGCTCTATGAAATATTTCAAATATACACAAAATTTCAGAGATGACATAAGAATAAATACCTGTTGATCCACTGCTCACATTTAACGCTTGTTAATGTCTTGCCATATTTCCTTCAGACCCATTTCTCTTTTGTTTTGAGCTCTGTCGTCCAGGCTGGAGTGCGATGGCAGGATCTTGGCTCATTTCGGTCTCTGCCTCCTGGGCCCAAACCATCTTCCCACCTCAGCCTCCCAAATAGCTGAGACTACAGATGCGTGCCACCACACCTGGCTAATTTTTGTATGTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGCTCTCCAACTCCTGAGCTCAAGTTGTCCACCCGCCTCAGGCCTCCCAAAGTGTTAGGACTACAGGCGTGAGCCACTGCACTGTCCTTAGACCCATTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTAAAGAGCAGATGCTTCAAAGAAATACATTTGAAGCCCCCTTTGTAAATTTCTCCAATCCTATGCCCCTTCTTCCTTCCTTAAAGATAAGTGCTATCCTCGCACTCTTGTGTATCCATGCATGTGTGTCTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGACCTCAGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGATGTGAGCTACTGCACCCGCCCCCACGCATGTCTTTAAGGTAGCATTTGACCGTGGTTCTCATTTTGCGTGTTTATATATTATCTCTCTCTATCTAAAAATAGTGAACAGTGAAGTGAAGTAGAACTAACTCTGTGCCAGGCAGCATTCTAAGTGCCGATAAACCTTACAACAATGTCGTGAGTTAGATATCACCATCCTCATTTTACAGTTGAAGAAACTGAGGCACAGAGACATAAATAATGTACCCACATCACGTAGTAAGTACAAAAGCCAGAACTCAGACCCAGGCAGCCTGGCCCCAGAGTCTGTTAACCCTATACTCCTCTGGTTCTCAGAAATGAAGATACATGTCGATTAAGTTTATCCACTTAAAATTGCTGCTTGGTGTTGCACTGAATGCCACAATCTACCCATTCCTCTAATTACAGCATTACAATTCTGTAATACGTATTCTTGTGTAGGTTTCTTTGTGCAAATGTGAGGAAATTTTTCCAGGTTATATATCTAAAAGTAGAATGACTAGGCCGAAGGATAGCCTGTAGTCAGCATGACTAGGTTTTGCCAAGTTGCTCTCCAGTGTCCCAGTTTGTAGTCCCACCAGCAGTGTAGGAAAATTCCCACTTTCCCAGTGCCAGCTCTTGGTATTGTTGACTTTAAAAATTTTTGAAAGATAAAGCAGTATTTCGTTGTTTGGACTTGCATTTCTATTTTACAAAAATACCATGAGGTTTAAATGGCAACAGTAAACTTGCAAGATGAGTTATTAATAGGATGATCATATAACTGGTCACCCAAACCAGAACATTTGTGGGAGAAAG
TTGATGGTCACCAGGTGATCTGTGCTCTCCTTAAGAGGGAATAAGACCTAGCGTTGGCAGAGTTCTGTAGGGTGACTATAGTTAACAGTAATCTGTTGTATATTTTAAAATGTTATTATTGAAGAGAGTAACTGGAATGTTCCCAGTATAAAGACAAATGTTTAAGGTGATAGAGATCTCATTTACCCTGATTTAATCATTACACATTATATGAAAGTATCAAAATACCACATGTACCCAGAAAACACATACGTCTCTTACATATCAATAAATACAACTTGAGATTATGATGTAAATACATCTGACCAACTTGGTACTTATTAGACTTATGTGCGCAGCACTGCTCTAGTCCTGTGGGTGCAGCAGCATCAGGATCGTTAAAGAAAACAAACAATGCTGAGAAAAAAACTCACACCCCTGAGACATCCGGGTGTGAATAAATGCGGCAGAGTCGCCCGAGATCGGGAGACCAGGCGTGGGGGAGAGGTCCGGGAGGCCTGGACCAGAGTCCTAACAGACCAGAGGCGAAACGGGAAGGCGCGCCAGAAAAGGAACAACGCAAAGGGAGCAGGCGTGCACGGAGCGCGAACTAAGGAACCCCTCTGACAACCCCAGTCCCTCGGCAGTTCCAGAGACCGGCTCCTCACGGAGGGTGGCGGTAGAGACTGTTAAGCCCCGCGGGCGCCGGGGCAGGCCGGACTGTGCCATTCGTGGGGGGTACCATGTGGGACCGAGCCGCCTCACCCAGGGCTGTCCAGCTAGAAACTCCCCGGTGCCACCCCCGCCTCAGTCCGAGGTAGACTCGGCCGGACGTGACGCAGCGTGAGGCCAAGGCGGCGTGAGTCTGCGCAGTGTGGGGCTGAGGGAGGCCGGACGGCGCGCGTGCGTGCTGGCGTGCGTTCATTTTCAGCCTGGTGTGGGGTGAGTGGTACCCAACGGGCCGGGGCGCCGCGTCCGCAGGAAGAGGCGCGGGGTGCAGGTCAGCGCCAGCGGGGGCGCGGCGCATGTGTGGGCCGTGGCGCTGGGCGGCGTGGGGGTGCTGGACGGTGTCCCTGTGCTGGACGGTGTCCCGCTGGCTCAGAACCGGCGCGGGGCCTGGGTCGGGGCCGCCCTCGCTTCCGGCCTCCCAGTCGGGCCCTGTCGCTGGCGTTGGATTTGACTGACCGCCAGCGTGGTGGCAACGCTGAAGCGTCCAGAATCTTCTGCCTAACCTCTCGCCGGCATGGAACTGGCTAGCCGTTTTATTAAACTCTGTTTTGCGTGGACGGTAAACCCTCCAGATAATCTGTAAATAGGCTAAAAAAAATTCGGAACCTCGTTGAGCTGCTGTCGTTGGCAGTGAGAACTCCGCGCAGAGAGACAGATGTAGTTGGGTTGACTTCAGTGAGGGGATTTCCATCTTTCTCAGTCATTAAAAAAAGTGTTCAGACATTTAACACTGTTGACCCCCACACACAATTTTTTAGTACAGTTATAACTAAGAAAACAAAAATCCCCTCCAAAAAATTACAAGTTAATTGCGAAAGACCACATTTAAATTTTTGCCCATGAAATTCAGTTTAGTCGTTTCTCTGAAACAGTGCTTCAAAAAAGACTGTTTCCCCGCATTGTGTGAAATGCAGGAGACCCACGTACTTGTATTTTTAAAAAACCCATTTGCAACATACTATTAAAGTTGGATTTAAGAGAACATGGTAGAAGAAAATCTAAGCAATACTACACCTTTTAGCACCCTCATTATGTTTTCATCTCAGAGCAATTAAAACTGCTATACAAATCAACGTTAAGATAACTAAACTGCTGCTTTTTTCGTATTCAGTTGTCTATGAAAACCGTTTCCCTAGGAAGTACTTACTCTGCTTGAAAATGCTCCTAAACTTTAAATTTTGGGGTATCTCAGGGTTGCAATGAAAGTTTTTTGAAATCTTTTTTTTTTTTTTTTTTTAAGGCTTGTAAACATATAACATAAAAATGGCTTCCAAAAGAGCTCTGGTCATCCTGGCTAAAGGAGCAGAGGAAATGGAGACGGTCATCCCTGTAGATGTCATAAGGCGAGCTGGGGTAAGTCCCACATCGATTTTTAGCCATTCCTGTTTTAAATGTTTTTGGATTTTTAAATCATTTTGAATAAAATATTCAAAGTGCTCTATGAAATATTTCAAATATACACAAAATTTCAGAGATGACATAAGAATAAATACCTGTTGATCCACTGCTCACATTTAACGCTTGTTAATGTCTTGCCATATTTCCTTCAGACCCATTTCTCTTTTGTTTTGAGCTCTGTCGTCCAGGCTGGAGTGCGATGGCAGGATCTTGGCTCATTTCGGTCTCTGCCTCCTGGGCCCAAACCATCTTCCCACCTCAGCCTCCCAAATAGCTGAGACTACAGATGCGTGCCACCACACCTGGCTAATTTTTGTATGTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGCTCTCCAACTCCTGAGCTCAAGTTGTCCACCCGCCTCAGGCCTCCCAAAGTGTTAGGACTACAGGCGTGAGCCACTGCACTGTCCTTAGACCCATTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTAAAGAGCAGATGCTTCAAAGAAATACATTTGAAGCCCCCTTTGTAAATTTCTCCAATCCTATGCCCCTTCTTCCTTCCTTAAAGATAAGTGCTATCCTCGCACTCTTGTGTATCCATGCATGTGTGTCTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGACCTCAGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGATGTGAGCTACTGCACCCGCCCCCACGCATGTCTTTAAGGTAGCATTTGACCGTGGTTCTCATTTTGCGTGTTTATATATTATCTCTCTCTATCTAAAAATAGTGAACAGTGAAGTGAAGTAGAACTAACTCTGTGCCAGGCAGCATTCTAAGTGCCGATAAACCTTACAACAATGTCGTGAGTTAGATATCACCATCCTCATTTTACAGTTGAAGAAACTGAGGCACAGAGACATAAATAATGTACCCACATCACGTAGTAAGTACAAAAGCCAGAACTCAGACCCAGGCAGCCTGGCCCCAGAGTCTGTTAACCCTATACTCCTCTGGTTCTCAGAAATGAAGATACATGTCGATTAAGTTTATCCACTTAAAATTGCTGCTTGGTGTTGCACTGAATGCCACAATCTACCCATTCCTCTAATTACAGCATTACAATTCTGTAATACGTATTCTTGTGTAGGTTTCTTTGTGCAAATGTGAGGAAATTTTTCCAGGTTATATATCTAAAAGTAGAATGACTAGGCCGAAGGATAGCCTGTAGTCAGCATGACTAGGTTTTGCCAAGTTGCTCTCCAGTGTCCCAGTTTGTAGTCCCACCAGCAGTGTAGGAAAATTCCCACTTTCCCAGTGCCAGCTCTTGGTATTGTTGACTTTAAAAATTTTTGAAAGATAAAGCAGTATTTCGTTGTTTGGACTTGCATTTCTATTTTACAAAAATACCATGAGGTTTAAATGGCAACAGTAAACTTGCAAGATGAGTTATTAATAGGATGATCATATAACTGGTCACCCAAACCAGAACATTTGTGGGAGAAAG
Task1_train_85
Given this variant in gene PARK7 (Parkinsonism associated deglycase) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
GTTGTCCACCCGCCTCAGGCCTCCCAAAGTGTTAGGACTACAGGCGTGAGCCACTGCACTGTCCTTAGACCCATTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTAAAGAGCAGATGCTTCAAAGAAATACATTTGAAGCCCCCTTTGTAAATTTCTCCAATCCTATGCCCCTTCTTCCTTCCTTAAAGATAAGTGCTATCCTCGCACTCTTGTGTATCCATGCATGTGTGTCTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGACCTCAGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGATGTGAGCTACTGCACCCGCCCCCACGCATGTCTTTAAGGTAGCATTTGACCGTGGTTCTCATTTTGCGTGTTTATATATTATCTCTCTCTATCTAAAAATAGTGAACAGTGAAGTGAAGTAGAACTAACTCTGTGCCAGGCAGCATTCTAAGTGCCGATAAACCTTACAACAATGTCGTGAGTTAGATATCACCATCCTCATTTTACAGTTGAAGAAACTGAGGCACAGAGACATAAATAATGTACCCACATCACGTAGTAAGTACAAAAGCCAGAACTCAGACCCAGGCAGCCTGGCCCCAGAGTCTGTTAACCCTATACTCCTCTGGTTCTCAGAAATGAAGATACATGTCGATTAAGTTTATCCACTTAAAATTGCTGCTTGGTGTTGCACTGAATGCCACAATCTACCCATTCCTCTAATTACAGCATTACAATTCTGTAATACGTATTCTTGTGTAGGTTTCTTTGTGCAAATGTGAGGAAATTTTTCCAGGTTATATATCTAAAAGTAGAATGACTAGGCCGAAGGATAGCCTGTAGTCAGCATGACTAGGTTTTGCCAAGTTGCTCTCCAGTGTCCCAGTTTGTAGTCCCACCAGCAGTGTAGGAAAATTCCCACTTTCCCAGTGCCAGCTCTTGGTATTGTTGACTTTAAAAATTTTTGAAAGATAAAGCAGTATTTCGTTGTTTGGACTTGCATTTCTATTTTACAAAAATACCATGAGGTTTAAATGGCAACAGTAAACTTGCAAGATGAGTTATTAATAGGATGATCATATAACTGGTCACCCAAACCAGAACATTTGTGGGAGAAAGGGTGTTCCAGTCCCACAGAGTACAGGGCAGCAGCTATAAGTAGGGTCTGTCCCGGGCAAACCAGGGTAGACCTAGTTATTAAATATATTTAGCCAGTGTATTAGCTTAAATTTGGTATAGTTGTGGTGCAGTATTTCCTGTCATGTTACTTTCAAACACAGGGCAGCTGTGTAAACGTTACTCTAGCTGGGTGTGGTGGCTCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGGATCATTTGAGCCCAGGAGCTGGAGGCTGCAGTAAGCTATGATTGTGTCACTGCCCTCTAGCCCAGGTGACAGGGTGAGACCCCATCTCTCTTTTTTCTTTTTTTTTAAAGACAGTGTTACTCTGAATTTATGTTTCAGTGTTCTTAAATATGATAACATCTTTCTCGTAGATTAAGGTCACCGTTGCAGGCCTGGCTGGAAAAGACCCAGTACAGTGTAGCCGTGATGTGGTCATTTGTCCTGATGCCAGCCTTGAAGATGCAAAAAAAGAGGTTTGTAATCCATACATGGAGTTATTCCTTCATATGGCTTCTTTGTTTCTTGAAATGTCTTAAGAGTGTTGTTAGCACAGACTCATTTTAGAAAATTATTTTGCTTGAATGTCTTCCCCTGACAGATTAAGAGGGTGAGGACTTTGTCTTTCTATTCTGTATCTGTAGAATGTGGCAATTGCTTGATACAGAATGTGCTTAGTAAGTGGGTGGCTGGATGGGTAGGTGGCCGGTTGGATGTGTGGCCAGATGGGTGGGTTGGTGCTTAGATGGATGGCTGCATTGTTTTCCCATCAGTATTTTTCTGGCTTACACAGGCATCCTTGCCTCCTATTACACATTTTTACCTGACATAAATCAACTGCCACATTTTCCATTTTTTATTATTATTATTTTTGTTTAGAGGAATGGTCCCACTCTCTCCCCTAGGCTGGAGTCCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCAATCCTCCCACCTCAACCCCCCACGTAGCTCGGACTACAGGCATGTGCCATGCCCGGCCATTATTTTTTCTAAAGATACTTTCAGAGTTCCACTGTAGTTGTGTTGTTTTTTCAGTATCGTTGGAATTATGGCTCTTACCTTTAAGGACGATGGACACTTTTGGAAGCTAGCATCCCTTTCCTCAGAAACATGCTCCCCCACAGGCGCTTTTGCACACTCCGTCGTGCGGTCAGCGTGACAGGAGTGTGGACTGTACCCTCTGACAGCAGGGTCATGGCAGGAAAGGAGGCAGAGTCGGCTCACAGATGGCTGGTTGCACACTGCTGAGGAACCTGGAGTGCGGTTCCCTGGGCCGAGCTGTCCTCAGATACATAGGAAAAAGTTTAATCCTTTCTAATAAGTTTAGATTTTTCATTACTGGATTGTAGAAAATTAGACTGTTGGTATTTACATGTGATTTGTTGAAACAAATTAAAAATGACAAGCAGAAGTAAGTATTCCAGGCCAAGTGCAGTGGCTCACCTGTAATCCCAGCACTTTTGGAGGCCAAAGTGGGAGGATCACTTGGGACCAGGAGTTTGAGACCAGCCTGGGCAACATAGCGAGACCGTTTCTCTTTAAATTAAAAATTTGTAAAAGCCAGGTGTGGTGGTGCATGCCTGTAGTTCTAGCTACTTAAGAGGCTGAGGCAAGAGGATCACTTGAGCCTAGACGGTTGCTTGAGCCCAGGAATTTGAGACAGCAGTGAACTGTGATTGTGCCATTGCCCTTCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAATAATAATAATACTTTTTTTCATCTCTGTTTGTGTTTTTGTCATATGATGTCTGGGCATTTTAAAACAGTGGTTACCTTTATTTTCAATCGACAGATAATAAGTGTACATATTCATGGGATTTGTGATGTTTCCATGCATAATATATAGTGATCGGATCAGAGTAATTAGCATATCCATCATCTCAAACATTTCTTTGTGTTGGGAACGTTCAATATCCTCCTTGCTATTTGAAACTATATATGATTGTTAACTATAGTCATTCTACGGGGGTATAGAACACCAGAACCTATTCCTCCTATCTAGCTATAATTTTGTATCTTTTAACAAATCTCTCCCTATCCCCACTTTCTCCTATCCTCCCCAGCCTCTAGTATCCTCTGTCCTACATTATGCTTCTATGTGATCAATTTTTTTTTAGCTTTCACATATGAGTGAGAACATGGAGTGTTTAATTTGCTATTCCTGGCTTCTTTCACTTAATATAATGTTCTCTAGTTCCATTCTTGTAGCCACAAATGACAAGATTTCATTCTTTTTTATGGCTGGATAGTATCCCATTGTGTATAAATGCCACATTTTCTTTATGCATTCATCTGTTGTTGGACCTAGGTTGATTTCGTATGTTGGCTAGTGTGACTGTTGGTGTAGTAAACAAGGGAGTGCAGGTGTCTCTT
GTTGTCCACCCGCCTCAGGCCTCCCAAAGTGTTAGGACTACAGGCGTGAGCCACTGCACTGTCCTTAGACCCATTTCTTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTAAAGAGCAGATGCTTCAAAGAAATACATTTGAAGCCCCCTTTGTAAATTTCTCCAATCCTATGCCCCTTCTTCCTTCCTTAAAGATAAGTGCTATCCTCGCACTCTTGTGTATCCATGCATGTGTGTCTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGACCTCAGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGATGTGAGCTACTGCACCCGCCCCCACGCATGTCTTTAAGGTAGCATTTGACCGTGGTTCTCATTTTGCGTGTTTATATATTATCTCTCTCTATCTAAAAATAGTGAACAGTGAAGTGAAGTAGAACTAACTCTGTGCCAGGCAGCATTCTAAGTGCCGATAAACCTTACAACAATGTCGTGAGTTAGATATCACCATCCTCATTTTACAGTTGAAGAAACTGAGGCACAGAGACATAAATAATGTACCCACATCACGTAGTAAGTACAAAAGCCAGAACTCAGACCCAGGCAGCCTGGCCCCAGAGTCTGTTAACCCTATACTCCTCTGGTTCTCAGAAATGAAGATACATGTCGATTAAGTTTATCCACTTAAAATTGCTGCTTGGTGTTGCACTGAATGCCACAATCTACCCATTCCTCTAATTACAGCATTACAATTCTGTAATACGTATTCTTGTGTAGGTTTCTTTGTGCAAATGTGAGGAAATTTTTCCAGGTTATATATCTAAAAGTAGAATGACTAGGCCGAAGGATAGCCTGTAGTCAGCATGACTAGGTTTTGCCAAGTTGCTCTCCAGTGTCCCAGTTTGTAGTCCCACCAGCAGTGTAGGAAAATTCCCACTTTCCCAGTGCCAGCTCTTGGTATTGTTGACTTTAAAAATTTTTGAAAGATAAAGCAGTATTTCGTTGTTTGGACTTGCATTTCTATTTTACAAAAATACCATGAGGTTTAAATGGCAACAGTAAACTTGCAAGATGAGTTATTAATAGGATGATCATATAACTGGTCACCCAAACCAGAACATTTGTGGGAGAAAGGGTGTTCCAGTCCCACAGAGTACAGGGCAGCAGCTATAAGTAGGGTCTGTCCCGGGCAAACCAGGGTAGACCTAGTTATTAAATATATTTAGCCAGTGTATTAGCTTAAATTTGGTATAGTTGTGGTGCAGTATTTCCTGTCATGTTACTTTCAAACACAGGGCAGCTGTGTAAACGTTACTCTAGCTGGGTGTGGTGGCTCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGGATCATTTGAGCCCAGGAGCTGGAGGCTGCAGTAAGCTATGATTGTGTCACTGCCCTCTAGCCCAGGTGACAGGGTGAGACCCCATCTCTCTTTTTTCTTTTTTTTTAAAGACAGTGTTACTCTGAATTTATGTTTCAGTGTTCTTAAATATGATAACATCTTTCTCGTAGATTAAGGTCACCGTTGCAGGCCTGTCTGGAAAAGACCCAGTACAGTGTAGCCGTGATGTGGTCATTTGTCCTGATGCCAGCCTTGAAGATGCAAAAAAAGAGGTTTGTAATCCATACATGGAGTTATTCCTTCATATGGCTTCTTTGTTTCTTGAAATGTCTTAAGAGTGTTGTTAGCACAGACTCATTTTAGAAAATTATTTTGCTTGAATGTCTTCCCCTGACAGATTAAGAGGGTGAGGACTTTGTCTTTCTATTCTGTATCTGTAGAATGTGGCAATTGCTTGATACAGAATGTGCTTAGTAAGTGGGTGGCTGGATGGGTAGGTGGCCGGTTGGATGTGTGGCCAGATGGGTGGGTTGGTGCTTAGATGGATGGCTGCATTGTTTTCCCATCAGTATTTTTCTGGCTTACACAGGCATCCTTGCCTCCTATTACACATTTTTACCTGACATAAATCAACTGCCACATTTTCCATTTTTTATTATTATTATTTTTGTTTAGAGGAATGGTCCCACTCTCTCCCCTAGGCTGGAGTCCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCAATCCTCCCACCTCAACCCCCCACGTAGCTCGGACTACAGGCATGTGCCATGCCCGGCCATTATTTTTTCTAAAGATACTTTCAGAGTTCCACTGTAGTTGTGTTGTTTTTTCAGTATCGTTGGAATTATGGCTCTTACCTTTAAGGACGATGGACACTTTTGGAAGCTAGCATCCCTTTCCTCAGAAACATGCTCCCCCACAGGCGCTTTTGCACACTCCGTCGTGCGGTCAGCGTGACAGGAGTGTGGACTGTACCCTCTGACAGCAGGGTCATGGCAGGAAAGGAGGCAGAGTCGGCTCACAGATGGCTGGTTGCACACTGCTGAGGAACCTGGAGTGCGGTTCCCTGGGCCGAGCTGTCCTCAGATACATAGGAAAAAGTTTAATCCTTTCTAATAAGTTTAGATTTTTCATTACTGGATTGTAGAAAATTAGACTGTTGGTATTTACATGTGATTTGTTGAAACAAATTAAAAATGACAAGCAGAAGTAAGTATTCCAGGCCAAGTGCAGTGGCTCACCTGTAATCCCAGCACTTTTGGAGGCCAAAGTGGGAGGATCACTTGGGACCAGGAGTTTGAGACCAGCCTGGGCAACATAGCGAGACCGTTTCTCTTTAAATTAAAAATTTGTAAAAGCCAGGTGTGGTGGTGCATGCCTGTAGTTCTAGCTACTTAAGAGGCTGAGGCAAGAGGATCACTTGAGCCTAGACGGTTGCTTGAGCCCAGGAATTTGAGACAGCAGTGAACTGTGATTGTGCCATTGCCCTTCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAATAATAATAATACTTTTTTTCATCTCTGTTTGTGTTTTTGTCATATGATGTCTGGGCATTTTAAAACAGTGGTTACCTTTATTTTCAATCGACAGATAATAAGTGTACATATTCATGGGATTTGTGATGTTTCCATGCATAATATATAGTGATCGGATCAGAGTAATTAGCATATCCATCATCTCAAACATTTCTTTGTGTTGGGAACGTTCAATATCCTCCTTGCTATTTGAAACTATATATGATTGTTAACTATAGTCATTCTACGGGGGTATAGAACACCAGAACCTATTCCTCCTATCTAGCTATAATTTTGTATCTTTTAACAAATCTCTCCCTATCCCCACTTTCTCCTATCCTCCCCAGCCTCTAGTATCCTCTGTCCTACATTATGCTTCTATGTGATCAATTTTTTTTTAGCTTTCACATATGAGTGAGAACATGGAGTGTTTAATTTGCTATTCCTGGCTTCTTTCACTTAATATAATGTTCTCTAGTTCCATTCTTGTAGCCACAAATGACAAGATTTCATTCTTTTTTATGGCTGGATAGTATCCCATTGTGTATAAATGCCACATTTTCTTTATGCATTCATCTGTTGTTGGACCTAGGTTGATTTCGTATGTTGGCTAGTGTGACTGTTGGTGTAGTAAACAAGGGAGTGCAGGTGTCTCTT
Task1_train_86
This genomic variant is located on Chromosome 1, within the PARK7 (Parkinsonism associated deglycase) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Autosomal recessive early-onset Parkinson disease 7
TTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTAAAGAGCAGATGCTTCAAAGAAATACATTTGAAGCCCCCTTTGTAAATTTCTCCAATCCTATGCCCCTTCTTCCTTCCTTAAAGATAAGTGCTATCCTCGCACTCTTGTGTATCCATGCATGTGTGTCTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGACCTCAGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGATGTGAGCTACTGCACCCGCCCCCACGCATGTCTTTAAGGTAGCATTTGACCGTGGTTCTCATTTTGCGTGTTTATATATTATCTCTCTCTATCTAAAAATAGTGAACAGTGAAGTGAAGTAGAACTAACTCTGTGCCAGGCAGCATTCTAAGTGCCGATAAACCTTACAACAATGTCGTGAGTTAGATATCACCATCCTCATTTTACAGTTGAAGAAACTGAGGCACAGAGACATAAATAATGTACCCACATCACGTAGTAAGTACAAAAGCCAGAACTCAGACCCAGGCAGCCTGGCCCCAGAGTCTGTTAACCCTATACTCCTCTGGTTCTCAGAAATGAAGATACATGTCGATTAAGTTTATCCACTTAAAATTGCTGCTTGGTGTTGCACTGAATGCCACAATCTACCCATTCCTCTAATTACAGCATTACAATTCTGTAATACGTATTCTTGTGTAGGTTTCTTTGTGCAAATGTGAGGAAATTTTTCCAGGTTATATATCTAAAAGTAGAATGACTAGGCCGAAGGATAGCCTGTAGTCAGCATGACTAGGTTTTGCCAAGTTGCTCTCCAGTGTCCCAGTTTGTAGTCCCACCAGCAGTGTAGGAAAATTCCCACTTTCCCAGTGCCAGCTCTTGGTATTGTTGACTTTAAAAATTTTTGAAAGATAAAGCAGTATTTCGTTGTTTGGACTTGCATTTCTATTTTACAAAAATACCATGAGGTTTAAATGGCAACAGTAAACTTGCAAGATGAGTTATTAATAGGATGATCATATAACTGGTCACCCAAACCAGAACATTTGTGGGAGAAAGGGTGTTCCAGTCCCACAGAGTACAGGGCAGCAGCTATAAGTAGGGTCTGTCCCGGGCAAACCAGGGTAGACCTAGTTATTAAATATATTTAGCCAGTGTATTAGCTTAAATTTGGTATAGTTGTGGTGCAGTATTTCCTGTCATGTTACTTTCAAACACAGGGCAGCTGTGTAAACGTTACTCTAGCTGGGTGTGGTGGCTCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGGATCATTTGAGCCCAGGAGCTGGAGGCTGCAGTAAGCTATGATTGTGTCACTGCCCTCTAGCCCAGGTGACAGGGTGAGACCCCATCTCTCTTTTTTCTTTTTTTTTAAAGACAGTGTTACTCTGAATTTATGTTTCAGTGTTCTTAAATATGATAACATCTTTCTCGTAGATTAAGGTCACCGTTGCAGGCCTGGCTGGAAAAGACCCAGTACAGTGTAGCCGTGATGTGGTCATTTGTCCTGATGCCAGCCTTGAAGATGCAAAAAAAGAGGTTTGTAATCCATACATGGAGTTATTCCTTCATATGGCTTCTTTGTTTCTTGAAATGTCTTAAGAGTGTTGTTAGCACAGACTCATTTTAGAAAATTATTTTGCTTGAATGTCTTCCCCTGACAGATTAAGAGGGTGAGGACTTTGTCTTTCTATTCTGTATCTGTAGAATGTGGCAATTGCTTGATACAGAATGTGCTTAGTAAGTGGGTGGCTGGATGGGTAGGTGGCCGGTTGGATGTGTGGCCAGATGGGTGGGTTGGTGCTTAGATGGATGGCTGCATTGTTTTCCCATCAGTATTTTTCTGGCTTACACAGGCATCCTTGCCTCCTATTACACATTTTTACCTGACATAAATCAACTGCCACATTTTCCATTTTTTATTATTATTATTTTTGTTTAGAGGAATGGTCCCACTCTCTCCCCTAGGCTGGAGTCCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCAATCCTCCCACCTCAACCCCCCACGTAGCTCGGACTACAGGCATGTGCCATGCCCGGCCATTATTTTTTCTAAAGATACTTTCAGAGTTCCACTGTAGTTGTGTTGTTTTTTCAGTATCGTTGGAATTATGGCTCTTACCTTTAAGGACGATGGACACTTTTGGAAGCTAGCATCCCTTTCCTCAGAAACATGCTCCCCCACAGGCGCTTTTGCACACTCCGTCGTGCGGTCAGCGTGACAGGAGTGTGGACTGTACCCTCTGACAGCAGGGTCATGGCAGGAAAGGAGGCAGAGTCGGCTCACAGATGGCTGGTTGCACACTGCTGAGGAACCTGGAGTGCGGTTCCCTGGGCCGAGCTGTCCTCAGATACATAGGAAAAAGTTTAATCCTTTCTAATAAGTTTAGATTTTTCATTACTGGATTGTAGAAAATTAGACTGTTGGTATTTACATGTGATTTGTTGAAACAAATTAAAAATGACAAGCAGAAGTAAGTATTCCAGGCCAAGTGCAGTGGCTCACCTGTAATCCCAGCACTTTTGGAGGCCAAAGTGGGAGGATCACTTGGGACCAGGAGTTTGAGACCAGCCTGGGCAACATAGCGAGACCGTTTCTCTTTAAATTAAAAATTTGTAAAAGCCAGGTGTGGTGGTGCATGCCTGTAGTTCTAGCTACTTAAGAGGCTGAGGCAAGAGGATCACTTGAGCCTAGACGGTTGCTTGAGCCCAGGAATTTGAGACAGCAGTGAACTGTGATTGTGCCATTGCCCTTCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAATAATAATAATACTTTTTTTCATCTCTGTTTGTGTTTTTGTCATATGATGTCTGGGCATTTTAAAACAGTGGTTACCTTTATTTTCAATCGACAGATAATAAGTGTACATATTCATGGGATTTGTGATGTTTCCATGCATAATATATAGTGATCGGATCAGAGTAATTAGCATATCCATCATCTCAAACATTTCTTTGTGTTGGGAACGTTCAATATCCTCCTTGCTATTTGAAACTATATATGATTGTTAACTATAGTCATTCTACGGGGGTATAGAACACCAGAACCTATTCCTCCTATCTAGCTATAATTTTGTATCTTTTAACAAATCTCTCCCTATCCCCACTTTCTCCTATCCTCCCCAGCCTCTAGTATCCTCTGTCCTACATTATGCTTCTATGTGATCAATTTTTTTTTAGCTTTCACATATGAGTGAGAACATGGAGTGTTTAATTTGCTATTCCTGGCTTCTTTCACTTAATATAATGTTCTCTAGTTCCATTCTTGTAGCCACAAATGACAAGATTTCATTCTTTTTTATGGCTGGATAGTATCCCATTGTGTATAAATGCCACATTTTCTTTATGCATTCATCTGTTGTTGGACCTAGGTTGATTTCGTATGTTGGCTAGTGTGACTGTTGGTGTAGTAAACAAGGGAGTGCAGGTGTCTCTTCAGTATACTGATTTCCTTTCCATTGGATACATGCCAAGTAGTGGGATTGCTGGACCATATGGTAGTTCCATTTACTG
TTTTTTCTTCTTTTTTTTTTTTTTTGAGATGGTGTCTCTCTGTGTCGCTCAGCCTGGAACGCAGTGGTGTGATCTCTGCTCGCTGCAACCTCTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCACCCTCAGCTGGGATTACAGGTGTCCGCCACCACGCCCGGCTAATTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCTTCAAGTGACCCGCCCGCCTTAGCCTTTTACAGTGCTGGGATTACAGGCAGGAGCCACCATGCCCGGCCCCTCAGACTCGTTTCTTAAAGAGCAGATGCTTCAAAGAAATACATTTGAAGCCCCCTTTGTAAATTTCTCCAATCCTATGCCCCTTCTTCCTTCCTTAAAGATAAGTGCTATCCTCGCACTCTTGTGTATCCATGCATGTGTGTCTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGACCTCAGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAGTTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGATGTGAGCTACTGCACCCGCCCCCACGCATGTCTTTAAGGTAGCATTTGACCGTGGTTCTCATTTTGCGTGTTTATATATTATCTCTCTCTATCTAAAAATAGTGAACAGTGAAGTGAAGTAGAACTAACTCTGTGCCAGGCAGCATTCTAAGTGCCGATAAACCTTACAACAATGTCGTGAGTTAGATATCACCATCCTCATTTTACAGTTGAAGAAACTGAGGCACAGAGACATAAATAATGTACCCACATCACGTAGTAAGTACAAAAGCCAGAACTCAGACCCAGGCAGCCTGGCCCCAGAGTCTGTTAACCCTATACTCCTCTGGTTCTCAGAAATGAAGATACATGTCGATTAAGTTTATCCACTTAAAATTGCTGCTTGGTGTTGCACTGAATGCCACAATCTACCCATTCCTCTAATTACAGCATTACAATTCTGTAATACGTATTCTTGTGTAGGTTTCTTTGTGCAAATGTGAGGAAATTTTTCCAGGTTATATATCTAAAAGTAGAATGACTAGGCCGAAGGATAGCCTGTAGTCAGCATGACTAGGTTTTGCCAAGTTGCTCTCCAGTGTCCCAGTTTGTAGTCCCACCAGCAGTGTAGGAAAATTCCCACTTTCCCAGTGCCAGCTCTTGGTATTGTTGACTTTAAAAATTTTTGAAAGATAAAGCAGTATTTCGTTGTTTGGACTTGCATTTCTATTTTACAAAAATACCATGAGGTTTAAATGGCAACAGTAAACTTGCAAGATGAGTTATTAATAGGATGATCATATAACTGGTCACCCAAACCAGAACATTTGTGGGAGAAAGGGTGTTCCAGTCCCACAGAGTACAGGGCAGCAGCTATAAGTAGGGTCTGTCCCGGGCAAACCAGGGTAGACCTAGTTATTAAATATATTTAGCCAGTGTATTAGCTTAAATTTGGTATAGTTGTGGTGCAGTATTTCCTGTCATGTTACTTTCAAACACAGGGCAGCTGTGTAAACGTTACTCTAGCTGGGTGTGGTGGCTCATGTCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGGATCATTTGAGCCCAGGAGCTGGAGGCTGCAGTAAGCTATGATTGTGTCACTGCCCTCTAGCCCAGGTGACAGGGTGAGACCCCATCTCTCTTTTTTCTTTTTTTTTAAAGACAGTGTTACTCTGAATTTATGTTTCAGTGTTCTTAAATATGATAACATCTTTCTCGTAGATTAAGGTCACCGTTGCAGGCCTGGCTGGAAAAGACCCAGTACAGTGTAGCCGTGATGTGGTCATTTGTCCTGATGCCAGCCTTGAAGATGCAAAAAAAGACGTTTGTAATCCATACATGGAGTTATTCCTTCATATGGCTTCTTTGTTTCTTGAAATGTCTTAAGAGTGTTGTTAGCACAGACTCATTTTAGAAAATTATTTTGCTTGAATGTCTTCCCCTGACAGATTAAGAGGGTGAGGACTTTGTCTTTCTATTCTGTATCTGTAGAATGTGGCAATTGCTTGATACAGAATGTGCTTAGTAAGTGGGTGGCTGGATGGGTAGGTGGCCGGTTGGATGTGTGGCCAGATGGGTGGGTTGGTGCTTAGATGGATGGCTGCATTGTTTTCCCATCAGTATTTTTCTGGCTTACACAGGCATCCTTGCCTCCTATTACACATTTTTACCTGACATAAATCAACTGCCACATTTTCCATTTTTTATTATTATTATTTTTGTTTAGAGGAATGGTCCCACTCTCTCCCCTAGGCTGGAGTCCAGTGGTGCAGTCACAGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCAATCCTCCCACCTCAACCCCCCACGTAGCTCGGACTACAGGCATGTGCCATGCCCGGCCATTATTTTTTCTAAAGATACTTTCAGAGTTCCACTGTAGTTGTGTTGTTTTTTCAGTATCGTTGGAATTATGGCTCTTACCTTTAAGGACGATGGACACTTTTGGAAGCTAGCATCCCTTTCCTCAGAAACATGCTCCCCCACAGGCGCTTTTGCACACTCCGTCGTGCGGTCAGCGTGACAGGAGTGTGGACTGTACCCTCTGACAGCAGGGTCATGGCAGGAAAGGAGGCAGAGTCGGCTCACAGATGGCTGGTTGCACACTGCTGAGGAACCTGGAGTGCGGTTCCCTGGGCCGAGCTGTCCTCAGATACATAGGAAAAAGTTTAATCCTTTCTAATAAGTTTAGATTTTTCATTACTGGATTGTAGAAAATTAGACTGTTGGTATTTACATGTGATTTGTTGAAACAAATTAAAAATGACAAGCAGAAGTAAGTATTCCAGGCCAAGTGCAGTGGCTCACCTGTAATCCCAGCACTTTTGGAGGCCAAAGTGGGAGGATCACTTGGGACCAGGAGTTTGAGACCAGCCTGGGCAACATAGCGAGACCGTTTCTCTTTAAATTAAAAATTTGTAAAAGCCAGGTGTGGTGGTGCATGCCTGTAGTTCTAGCTACTTAAGAGGCTGAGGCAAGAGGATCACTTGAGCCTAGACGGTTGCTTGAGCCCAGGAATTTGAGACAGCAGTGAACTGTGATTGTGCCATTGCCCTTCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAATAATAATAATACTTTTTTTCATCTCTGTTTGTGTTTTTGTCATATGATGTCTGGGCATTTTAAAACAGTGGTTACCTTTATTTTCAATCGACAGATAATAAGTGTACATATTCATGGGATTTGTGATGTTTCCATGCATAATATATAGTGATCGGATCAGAGTAATTAGCATATCCATCATCTCAAACATTTCTTTGTGTTGGGAACGTTCAATATCCTCCTTGCTATTTGAAACTATATATGATTGTTAACTATAGTCATTCTACGGGGGTATAGAACACCAGAACCTATTCCTCCTATCTAGCTATAATTTTGTATCTTTTAACAAATCTCTCCCTATCCCCACTTTCTCCTATCCTCCCCAGCCTCTAGTATCCTCTGTCCTACATTATGCTTCTATGTGATCAATTTTTTTTTAGCTTTCACATATGAGTGAGAACATGGAGTGTTTAATTTGCTATTCCTGGCTTCTTTCACTTAATATAATGTTCTCTAGTTCCATTCTTGTAGCCACAAATGACAAGATTTCATTCTTTTTTATGGCTGGATAGTATCCCATTGTGTATAAATGCCACATTTTCTTTATGCATTCATCTGTTGTTGGACCTAGGTTGATTTCGTATGTTGGCTAGTGTGACTGTTGGTGTAGTAAACAAGGGAGTGCAGGTGTCTCTTCAGTATACTGATTTCCTTTCCATTGGATACATGCCAAGTAGTGGGATTGCTGGACCATATGGTAGTTCCATTTACTG
Task1_train_87
A genetic alteration is present in PARK7 (Parkinsonism associated deglycase) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Autosomal recessive early-onset Parkinson disease 7
GTTCTCATTCTCCCTCTGCCCCATCCCACACTACTCCCATTAGCAACTAGAGTGTCTTCCTTTGTCTGTGACTACCTGTATACAGAATATGTGGGGTGGGGTGCTTGTGGTGATTGTACACATACACGCATACATCTACACACAAATACATATATCCTTGTCTTTTACAGGAAGGAGATTATACTACCCCTGCTACTCTGCAGCGTGGACATCCTTGCATGTCACTACATACAGGTTTTCTGCATTTTTTGCTAGTTAAAACACCATTCCGTCATGTGGATACACCTTAATTTATTTAACTGTTCTATTGGCAGATAGGCTATCTCCTGTACTTCCCACATTTAAAATAGGAAAGTATTATTGGACTGTCAATTTAATGCACAGTTGAAATGAAATGTTTTTGTTTTCTTTATGTTTTAAACTGTTACAGGGACCATATGATGTGGTGGTTCTACCAGGAGGTAATCTGGGCGCACAGAATTTATCTGAGGTAAAAAATTCTACTCAATTATACCTCAATAAAGCTGGGGGGGGGGAAAAACTAAAGAATTTCAGCATCTGCTTATGTTCTGTTAATTTTGTTATTATTCAAATATTTCGGGAGGAGGCTGTGAAAAAAAAATAGAAACAACTAAAATTAACAAAATGGTGTTATAGCATTAACTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCTGAGTAGCTGGGATTGCAGGCATGCACCCCCATGCCCTGCTAATTTTTATATTTTTATTAGAGACGGGGTTTCACCATGTTGGCCAGTCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCACTCCCGACCTCAAGAAAACATTTTTAATATTTTCTATGGAGGTCAGGTGCAGTGGCTCAACGTCTATAATCCCAGTGGTTTGGGAGGCTGAGACAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTAAGTAACACATCGAGACGCCATCTCTACAAAAAATTTTCTTTTAATTAGCTGGGCACGGTGGTGCACACTTGTAGTCCCAGCTACTCGGGAGGCTATGGTGGGAGGATGACTTGAGGCCAGGGATTTGAGGCTGCAGTGAGCTGTGAATGCACCACTGCATTCTAGCCTGGGCAACAAAGCAAGAACCTGTCTTATCAGAAAAAAAAAATGTTGCCATGGAAGTAAGCTGAATTGGTGGGACCGTTATGAACAGATGTCGATGAATACAGTCCAAAGTAAGATGATTTGGTTTTTTTCCACCAGCAGAAGAATGATCAGATTTTGTGTTTTGAGAAGGGCAAATTGTCTACTCAAAGTCTTAACTGGGGGAAGCTGTGGGGCTAGGGCTGCCAGCAGGAATGGCAAATGCCATCAGCAGAGACCATTGTTCCTCATTTTAAGTCGTATGTGAGGAGTCAGAGGCCAGGGTGAGGGGCACACCTGCAGGCAGAGTTGGGGCTGCCAGAAGTAAGAAGTGGGTTGTGTCAGACACAAGGGATCTTTTCCTGCTAGATTCTGTTCCTCTCTCTGCCATCTGAAAACACCCAAAACACCACATTCCCTCCCATTTCTTTCTCCCTGGAGTACAAAATGGCAAGGGTCAAATTGCTTCTTCTGATCTTTAAATGTGGAAGAGTGCGTTTCTCTTATGAGAAATGCCTTGCTTGGGTTTAAGAATATAATATAGACACATTTTGATCATTTTTATACCAATGATTTAGAAATATTGTTGGAAAATAGGTCAGAGAGCTTGTGGTTTAAACTAAAATTAAATTCTTCCAAAGTTTCCTAGTGAGTGATTGGTTAGTGGCTTAATGATAACTTTATGTATTTTTGGTTTTCTTTTCACTAGTCTGCTGCTGTGAAGGAGATACTGAAGGAGCAGGAAAACCGGAAGGGCCTGATAGCCGCCATCTGTGCAGGTGACGTGCAGGGGCAGCCTGTGTTGCAGCGTCATTGGTGGGTGGGGTAGCCTTTCATTCGATGGTTTGATTCCAAATAGCTCTTCCCCTTCATAAAGCATGCAGGGCATCTGTGTTGGTGTATTTAGTTTGGGTGGCATGAAGTTGGTGTCATTTCAGAGATGAGGACAATTGTTCTGTTTTCTGCCTCTCCATGCCTTTGGTCTACATGCTGTGAAACTTAGTGTTTTCCGTGTTTGGTTGACCTCGGAGGAAAATAAGGCCCTCTGGAATTCAGTAAACAGCTTGTTACAGCAAGTCTCTGTGCCAGAAAGTCTTTGTGCCAGCACACAATCAGCAAAATCCATCAAACATCAACACAGCAGCTCTGTCCTGTGCTTGCCCTGCAAATTCAGAAGCCCCCATGGTGCTTTCCGCTGGCTTCTCGGGCGTTTCTGATTGTCTCAGTACCGAGTGATCTTGGGCACCGCATTATCTGCCACATAATTTAGAACAAGGACATTTGGTGCTTCGCAGATGTCCTCTTCTCTTTGTACCTTAGTAATATTTTATTTTCTCATAACCATTTTAAGATCCATTCTTGTTGCTTTCCTATCAGATGATGTTCTGCCATTTTGGTTTTTTCCCATGCTGTAATTTTTGCCAGCACCTTCCTTGTTGTATAGGTCTTCATTAAATATTTGTCAGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCACCATGGTGAAACCCCATCTCTACTAAAAATACAGAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCGTTGCACTCCAGCCTGGGGGACACGAGCGAGACTTCGTCTCAAAAAAAAAATAAAATAAAATAAAATAAATATTTGTCAGAAGAGTGAATGAATAAACGAATGAATGAGTGGATGGTTTGGTAAACATCAACATCAAAACATGTTGCTGTTGCTATTTTGTTCAATACAGTAGGCTTTTCAAAAGAAGTTATGGGCCAGAGGTCCTGGGGACTTGATACATTCGAGTATCAGTGGTTCTCAATGTTCTTTTGGTGCACTTGCAAGGTCAAAGCAGATGCTACTGAGGGGCCAGGTGTGGTGGCTCATGCCTGTAATCTCAGCATTTTGGGAGGCCAAGGCAGAAGGATCTCTTGAAAGCCAGGAGTTTGAGACTAACCTTGGCAACATAGCCAGACCCCCATCTCAACAAACAAACAAACAAAAAATTAGCCAAGCACAGTACTGCATGCATGTAGTCCCAGCTACTCAGGAGGCTGAGATGGGAGGATCGCTTGAAGGCAAGAGTTAGAGGCTGCAGTGAGCTATGATTGCACTCCAGCCTGGGCAGCAGAGTGACACCATGTCTTTCAAACAAAATGTTATTCGCCTTTTTTCTTCTCAGTCTTTCAGGAGTGACATCAGAGTAGGATGATACCATCATCTGAGAATTTATTATTGTGTTTTAAAAATTTCCCAGTTTTATTAGGTTGATGTAAAAGTAATTGTGGTTTTTGCCATTAAAAGTAATTGGCGTGGCACAGTGGCGCATGCCTGTAATCTCAGCACTTTGGGAAGCTGAGGTGGGCAGATCGTTTGAGGTCAGGAGTTCAAAACCAGCCTGGCAAACGTGGTGAAATCCCGTTTCTACTAAAAATACAAAAGTTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAGTTAGCTGGGCAGTTAGCTGGGTATGGTGATGCATTCCTGTAATCCCAGCTATCAGGAGGCTGAGGCAGGAGAATCTATTGAACCCGGGCGGCGGAGGTTGCAGTGAGCCGCGATTACGCCA
GTTCTCATTCTCCCTCTGCCCCATCCCACACTACTCCCATTAGCAACTAGAGTGTCTTCCTTTGTCTGTGACTACCTGTATACAGAATATGTGGGGTGGGGTGCTTGTGGTGATTGTACACATACACGCATACATCTACACACAAATACATATATCCTTGTCTTTTACAGGAAGGAGATTATACTACCCCTGCTACTCTGCAGCGTGGACATCCTTGCATGTCACTACATACAGGTTTTCTGCATTTTTTGCTAGTTAAAACACCATTCCGTCATGTGGATACACCTTAATTTATTTAACTGTTCTATTGGCAGATAGGCTATCTCCTGTACTTCCCACATTTAAAATAGGAAAGTATTATTGGACTGTCAATTTAATGCACAGTTGAAATGAAATGTTTTTGTTTTCTTTATGTTTTAAACTGTTACAGGGACCATATGATGTGGTGGTTCTACCAGGAGGTAATCTGGGCGCACAGAATTTATCTGAGGTAAAAAATTCTACTCAATTATACCTCAATAAAGCTGGGGGGGGGGAAAAACTAAAGAATTTCAGCATCTGCTTATGTTCTGTTAATTTTGTTATTATTCAAATATTTCGGGAGGAGGCTGTGAAAAAAAAATAGAAACAACTAAAATTAACAAAATGGTGTTATAGCATTAACTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCTGAGTAGCTGGGATTGCAGGCATGCACCCCCATGCCCTGCTAATTTTTATATTTTTATTAGAGACGGGGTTTCACCATGTTGGCCAGTCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTATAGGCGTGAGCCACCACTCCCGACCTCAAGAAAACATTTTTAATATTTTCTATGGAGGTCAGGTGCAGTGGCTCAACGTCTATAATCCCAGTGGTTTGGGAGGCTGAGACAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTAAGTAACACATCGAGACGCCATCTCTACAAAAAATTTTCTTTTAATTAGCTGGGCACGGTGGTGCACACTTGTAGTCCCAGCTACTCGGGAGGCTATGGTGGGAGGATGACTTGAGGCCAGGGATTTGAGGCTGCAGTGAGCTGTGAATGCACCACTGCATTCTAGCCTGGGCAACAAAGCAAGAACCTGTCTTATCAGAAAAAAAAAATGTTGCCATGGAAGTAAGCTGAATTGGTGGGACCGTTATGAACAGATGTCGATGAATACAGTCCAAAGTAAGATGATTTGGTTTTTTTCCACCAGCAGAAGAATGATCAGATTTTGTGTTTTGAGAAGGGCAAATTGTCTACTCAAAGTCTTAACTGGGGGAAGCTGTGGGGCTAGGGCTGCCAGCAGGAATGGCAAATGCCATCAGCAGAGACCATTGTTCCTCATTTTAAGTCGTATGTGAGGAGTCAGAGGCCAGGGTGAGGGGCACACCTGCAGGCAGAGTTGGGGCTGCCAGAAGTAAGAAGTGGGTTGTGTCAGACACAAGGGATCTTTTCCTGCTAGATTCTGTTCCTCTCTCTGCCATCTGAAAACACCCAAAACACCACATTCCCTCCCATTTCTTTCTCCCTGGAGTACAAAATGGCAAGGGTCAAATTGCTTCTTCTGATCTTTAAATGTGGAAGAGTGCGTTTCTCTTATGAGAAATGCCTTGCTTGGGTTTAAGAATATAATATAGACACATTTTGATCATTTTTATACCAATGATTTAGAAATATTGTTGGAAAATAGGTCAGAGAGCTTGTGGTTTAAACTAAAATTAAATTCTTCCAAAGTTTCCTAGTGAGTGATTGGTTAGTGGCTTAATGATAACTTTATGTATTTTTGGTTTTCTTTTCACTAGTCTGCTGCTGTGAAGGAGATACTGAAGGAGCAGGAAAACCGGAAGGGCCTGATAGCCGCCATCTGTGCAAGTGACGTGCAGGGGCAGCCTGTGTTGCAGCGTCATTGGTGGGTGGGGTAGCCTTTCATTCGATGGTTTGATTCCAAATAGCTCTTCCCCTTCATAAAGCATGCAGGGCATCTGTGTTGGTGTATTTAGTTTGGGTGGCATGAAGTTGGTGTCATTTCAGAGATGAGGACAATTGTTCTGTTTTCTGCCTCTCCATGCCTTTGGTCTACATGCTGTGAAACTTAGTGTTTTCCGTGTTTGGTTGACCTCGGAGGAAAATAAGGCCCTCTGGAATTCAGTAAACAGCTTGTTACAGCAAGTCTCTGTGCCAGAAAGTCTTTGTGCCAGCACACAATCAGCAAAATCCATCAAACATCAACACAGCAGCTCTGTCCTGTGCTTGCCCTGCAAATTCAGAAGCCCCCATGGTGCTTTCCGCTGGCTTCTCGGGCGTTTCTGATTGTCTCAGTACCGAGTGATCTTGGGCACCGCATTATCTGCCACATAATTTAGAACAAGGACATTTGGTGCTTCGCAGATGTCCTCTTCTCTTTGTACCTTAGTAATATTTTATTTTCTCATAACCATTTTAAGATCCATTCTTGTTGCTTTCCTATCAGATGATGTTCTGCCATTTTGGTTTTTTCCCATGCTGTAATTTTTGCCAGCACCTTCCTTGTTGTATAGGTCTTCATTAAATATTTGTCAGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCACCATGGTGAAACCCCATCTCTACTAAAAATACAGAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCGTTGCACTCCAGCCTGGGGGACACGAGCGAGACTTCGTCTCAAAAAAAAAATAAAATAAAATAAAATAAATATTTGTCAGAAGAGTGAATGAATAAACGAATGAATGAGTGGATGGTTTGGTAAACATCAACATCAAAACATGTTGCTGTTGCTATTTTGTTCAATACAGTAGGCTTTTCAAAAGAAGTTATGGGCCAGAGGTCCTGGGGACTTGATACATTCGAGTATCAGTGGTTCTCAATGTTCTTTTGGTGCACTTGCAAGGTCAAAGCAGATGCTACTGAGGGGCCAGGTGTGGTGGCTCATGCCTGTAATCTCAGCATTTTGGGAGGCCAAGGCAGAAGGATCTCTTGAAAGCCAGGAGTTTGAGACTAACCTTGGCAACATAGCCAGACCCCCATCTCAACAAACAAACAAACAAAAAATTAGCCAAGCACAGTACTGCATGCATGTAGTCCCAGCTACTCAGGAGGCTGAGATGGGAGGATCGCTTGAAGGCAAGAGTTAGAGGCTGCAGTGAGCTATGATTGCACTCCAGCCTGGGCAGCAGAGTGACACCATGTCTTTCAAACAAAATGTTATTCGCCTTTTTTCTTCTCAGTCTTTCAGGAGTGACATCAGAGTAGGATGATACCATCATCTGAGAATTTATTATTGTGTTTTAAAAATTTCCCAGTTTTATTAGGTTGATGTAAAAGTAATTGTGGTTTTTGCCATTAAAAGTAATTGGCGTGGCACAGTGGCGCATGCCTGTAATCTCAGCACTTTGGGAAGCTGAGGTGGGCAGATCGTTTGAGGTCAGGAGTTCAAAACCAGCCTGGCAAACGTGGTGAAATCCCGTTTCTACTAAAAATACAAAAGTTAGCTGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAGTTAGCTGGGCAGTTAGCTGGGTATGGTGATGCATTCCTGTAATCCCAGCTATCAGGAGGCTGAGGCAGGAGAATCTATTGAACCCGGGCGGCGGAGGTTGCAGTGAGCCGCGATTACGCCA
Task1_train_88
Consider a variant on Chromosome 1 in gene PARK7 (Parkinsonism associated deglycase). Determine its clinical classification and disease relevance.
Pathogenic; Autosomal recessive early-onset Parkinson disease 7
GTAACTGCCTGTGAACGATCAATTGAGATAACTCACTGCCTTCGACCAGCAGTGGCTTGGTTTCTAATGACAGTAAGACAAGTTCCTATAGCCATTGTTAATCTCCTTGGAAAAGAAATGAACACTGTGTGGTTTCAGAAGCTCATTAATATAGCAGAAGCACTCTGCTTCTGTTTGAAGGGAGGTTTTCAGATGAATTTTTCTGCGTGTTCATTGAACAGACGTTTCCTAAGCTCCTCCTTAGTGCCTGGCACTGGGAACAGAAGAAGGAAGAAGAGAAAGCTGTGCCCTCAGGGTGTTCTCAGGTCCGCACTGAGCGGTGGTGACCAGAGCCACCCGCCTGCCTGCGTGGCCGGTGCATCAGGATAGAGCAGGAGTTCACAGAGGAGCTTTGTCACTTCCCCCTCCGCTAAATCTGTTCTGTGGCCCCACATCACTGAGTGGTGTCACCATCATCCAGTCACCTGGGACAGGCAGCTGGGAGTCATCCTTGAAGCCTCCTCACCTAGGCCTTCATTGCAAACCTCCATTTCCTCTGGATCACTGTCACCAGCCTAGTGCAGGCACCACCAGCTTCTACCCAGAGAGCAGGTTCCTTTCCATCTCCTTCTGGTCCCAGCCCAGTCTCTGTGCGAAGGCCAGACCGCAGAGGGCTCCAGGCCCCGTGACATGGAGTTCAGCGTGACCTTCAGGTGCTGGAGAGAGTTGGCAAGGGCTTTCCATGGGGAACTGGCTATGCCCTGCTTTGCACTCTGGACAGTTAGCTTTTGGGTGCTGGGCATGGATCGAAGGGGCGCACAGCCGGAAGGGAGAGCTGTAATCATGCAGAGATCCTTCCCCTTTAAAGCAGGGGACAGGCGAGAAAGGAGATCGAGTCAAGAATGGTGTTTGGTGCCTTTGACCTCACACTTCAGGGGTGCCTCCTGTGTGCCATGGATATCATTGGCCAGACAGGGACTGATGAAGACCCAGCCTTTTTAAAGAGTAAACAATAAACAAGGAAATGAAATGTTCATAGATTGTGATAGATTGTATCAATGCTGCGAGGGCAGTAAATAGAATGCGGTGATAGAGTCAATAGAGGTACCTAATTTGGGGAGGTGGGGGTGGTCACAGATACCCTCTCTGAGGGGTTTTTGTTGATGCTGAAACTGAAGGAGCAAGGAACTGGAAAGAGCTGGTCTCTGGGTGGAGGGAGCAGCCCTTGAGCTCTTCCTGGAGCAGGAGAGAACGTGTTGTATACAGTAAGGGAAGCTCCAGGTGGGAGAGTGATAGGGATGGGTGTGGGGAGGGAGGTTAGGCTCTGTGTGCAGTGGAGAGGCTGGTGACTACCTGCTGTGGAGGGGCAGAGCTCAGGGCATCCATGCTTAAGAGTCCCAGTTTTGGTATTATATTTGCCAAGAAATAGCCAACCGGCGGGCCTGGAGGTGCGGGGATGCGGAAGGAAAGTAGTCCTTGAGAGGGAATGTGGTTTCTACCTGCACACGCACACTCACATGCATACCCGCCTCCATTACGTTGTGCTGTGGTTGTTTTTGAGGCATCAGAGGGTGTGCGTGCCGCCACATGTTGATTGGGGTGGCTTCTGCGTTCAGCGCTGCCGCATCCCTTCACCCTTCCCCGGCACTTCAGAATTGACACTTGAGCTTTGTTGTAAATAGTGATGTGAGTAACTGTCATTCACCGACATCTCCCCCAACACTTAAAGTCTTAGCAGCTGCATTTAACTCACGCATATTTGTTTCATTCTAACAGTGGTTTCTGTCACCCTTTGCTCTGCACAGTTTTAAAAATACCTTTGTAGGGGGCTTCTAAGAGCTTGGAGTGCCTAGTAAATGTTTTTGAATGGTTAGCTACAGTGTTGGGTTTATATGCTGTAATAGTGAATTTAATTGGTAAGTAATCGTCTTTCTCGTCACATAGCCCATTAGGATGTCACCTTTTCTGTTTCTACTTTGCAGGTCATTACACCTACTCTGAGAATCGTGTGGAAAAAGACGGCCTGATTCTTACAAGCCGGGGGCCTGGGACCAGCTTCGAGTTTGCGCTTGCAATTGTTGAAGCCCTGAATGGCAAGGAGGTGGCGGCTCAAGTGAAGGCTCCACTTGTTCTTAAAGACTAGAGCAGCGAACTGCGACGATCACTTAGAGAAACAGGCCGTTAGGAATCCATTCTCACTGTGTTCGCTCTAAACAAAACAGTGGTAGGTTAATGTGTTCAGAAGTCGCTGTCCTTACTACTTTTGCGGAAGTATGGAAGTCACAACTACACAGAGATTTCTCAGCCTACAAATTGTGTCTATACATTTCTAAGCCTTGTTTGCAGAATAAACAGGGCATTTAGCAAACTACTGATTGTTTCTTGTTTTGTCTCTCATTTCTTTTGTGAAATTAAATTCCGTATCACCTTCATTTGCAGCTCTTAACTGTCCATATGGCACTGAAATAAAAGAACAGTGACCACATTTTACACAGCAAGGAGGAAAGGCATACAAACAGAATTTAAGAGGCTTGTGATTTTCTCTGCTTATTAGCTGTGTGTTTTTAATGTGCTATTAAAAAATACCAATGAGGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAAACCGAGCCAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGTCTCCATCTCTACAAAAAAATACAAAAACTAGCCAGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTTAGGAGCCTGAGGTGAGAGGATCACTTGAGCCCCAGGGGGTCAAGGCTACAATGAGCTGTGATCACACCACCGCACCCCAGCCTGGGTGTCACAGCGAGACCCTGTCTCCAAAAAAAAAAAAAAGAAAAAAAGTTGGCTGTACTGGTGAATTTTTATACACCAGTTCCTTTTTCCATTATGGAAAGAGTACTTGGATAAAAACTTTTCAAGGTTGGCCCAACATCTCTTTTCCCTTCCCCAGGTAATAGCACCCAGCATTCCTTGTGAACCACCCAGTTCCTCCTGGGCGGGCACATGATCCAGACCCAGCCAATCCGAGCCCTGTTTACCACTGGCCGTGTGACCCAGGTGAGCTCAGTCAGTCCACGAGACTCCATCCGAGGGTCTCATAGCTGCTGGAGTGGCCAAGAGGATATGCTGGCAACCCAGAGCACTGGCAGCCGTCTCGTCACTGCCAGCGAAAGACCTGCTTGGGACGGCTCTCACGCTGTGGGTGGCTGACCCTAGTCCAGAAGGCTGGGCAGATGTTAACTTTTACAATGCAAACACATGTGTAATTGTCTATTTTAGTAAGTGCTTTAACAGATGATAATGCTAAGGGAGAGACGATTTCCATGGTGGGGAGTGGGGAGGGAGGCTTCTGAGGAAGTGACATTTCAGGTGTGAAGTAGGAGCAGTGCTTAGGCTTTCATTCCTTCCCCAGCTGTGTGCTCAGTCAGTACCTACTGTGTGCCAAGTGCTGTTCCTGCTGCTGGGAATACGCCAGGGAGAAACACAGCCTTTGTCCTTGGGGAGCTTATGTTGTGGGTGCCGGGGAGAGATGAAAGCAAATACGAAAATACCCACATTCTATGAAGAAAATTAAGGAGGGTAAGGAGGCAGTGACAGGGGAATTGCATGATGGGAAGTGAAGGCCTCTCCGAAAAGAGATCTTAGTGGGAATCTGAGGACTTTTGGGTGTGAAAGAGACAAGTAGGTGTCTGTTCAGAGCATACCAGGCAGCAGGAGCAGGGAGTGTAGAGGCCCTGCCGCAGGAGCATTGAGAGGCGGGTTAGAGAAACATGGTAGGAGGTGAAGTTGGAGAGGTAGCCAGGGCCATGGTGAGGTGTCAAGACAGAGACAGAACCACCAGAGAGAGACCTGACCCACCTCGTTCAAAGACTGGCCCTGCAGAGAAGAGACCCTTCTGGAGCAGGCACGCAGGCAGGCGGGATGCTGGGGCCAGTCAGGTGGCAGCATTGGGCACCCACTCAGGGTGTGAGAGGAAGGGCGTCCGGGACAACCCCCACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAGT
GTAACTGCCTGTGAACGATCAATTGAGATAACTCACTGCCTTCGACCAGCAGTGGCTTGGTTTCTAATGACAGTAAGACAAGTTCCTATAGCCATTGTTAATCTCCTTGGAAAAGAAATGAACACTGTGTGGTTTCAGAAGCTCATTAATATAGCAGAAGCACTCTGCTTCTGTTTGAAGGGAGGTTTTCAGATGAATTTTTCTGCGTGTTCATTGAACAGACGTTTCCTAAGCTCCTCCTTAGTGCCTGGCACTGGGAACAGAAGAAGGAAGAAGAGAAAGCTGTGCCCTCAGGGTGTTCTCAGGTCCGCACTGAGCGGTGGTGACCAGAGCCACCCGCCTGCCTGCGTGGCCGGTGCATCAGGATAGAGCAGGAGTTCACAGAGGAGCTTTGTCACTTCCCCCTCCGCTAAATCTGTTCTGTGGCCCCACATCACTGAGTGGTGTCACCATCATCCAGTCACCTGGGACAGGCAGCTGGGAGTCATCCTTGAAGCCTCCTCACCTAGGCCTTCATTGCAAACCTCCATTTCCTCTGGATCACTGTCACCAGCCTAGTGCAGGCACCACCAGCTTCTACCCAGAGAGCAGGTTCCTTTCCATCTCCTTCTGGTCCCAGCCCAGTCTCTGTGCGAAGGCCAGACCGCAGAGGGCTCCAGGCCCCGTGACATGGAGTTCAGCGTGACCTTCAGGTGCTGGAGAGAGTTGGCAAGGGCTTTCCATGGGGAACTGGCTATGCCCTGCTTTGCACTCTGGACAGTTAGCTTTTGGGTGCTGGGCATGGATCGAAGGGGCGCACAGCCGGAAGGGAGAGCTGTAATCATGCAGAGATCCTTCCCCTTTAAAGCAGGGGACAGGCGAGAAAGGAGATCGAGTCAAGAATGGTGTTTGGTGCCTTTGACCTCACACTTCAGGGGTGCCTCCTGTGTGCCATGGATATCATTGGCCAGACAGGGACTGATGAAGACCCAGCCTTTTTAAAGAGTAAACAATAAACAAGGAAATGAAATGTTCATAGATTGTGATAGATTGTATCAATGCTGCGAGGGCAGTAAATAGAATGCGGTGATAGAGTCAATAGAGGTACCTAATTTGGGGAGGTGGGGGTGGTCACAGATACCCTCTCTGAGGGGTTTTTGTTGATGCTGAAACTGAAGGAGCAAGGAACTGGAAAGAGCTGGTCTCTGGGTGGAGGGAGCAGCCCTTGAGCTCTTCCTGGAGCAGGAGAGAACGTGTTGTATACAGTAAGGGAAGCTCCAGGTGGGAGAGTGATAGGGATGGGTGTGGGGAGGGAGGTTAGGCTCTGTGTGCAGTGGAGAGGCTGGTGACTACCTGCTGTGGAGGGGCAGAGCTCAGGGCATCCATGCTTAAGAGTCCCAGTTTTGGTATTATATTTGCCAAGAAATAGCCAACCGGCGGGCCTGGAGGTGCGGGGATGCGGAAGGAAAGTAGTCCTTGAGAGGGAATGTGGTTTCTACCTGCACACGCACACTCACATGCATACCCGCCTCCATTACGTTGTGCTGTGGTTGTTTTTGAGGCATCAGAGGGTGTGCGTGCCGCCACATGTTGATTGGGGTGGCTTCTGCGTTCAGCGCTGCCGCATCCCTTCACCCTTCCCCGGCACTTCAGAATTGACACTTGAGCTTTGTTGTAAATAGTGATGTGAGTAACTGTCATTCACCGACATCTCCCCCAACACTTAAAGTCTTAGCAGCTGCATTTAACTCACGCATATTTGTTTCATTCTAACAGTGGTTTCTGTCACCCTTTGCTCTGCACAGTTTTAAAAATACCTTTGTAGGGGGCTTCTAAGAGCTTGGAGTGCCTAGTAAATGTTTTTGAATGGTTAGCTACAGTGTTGGGTTTATATGCTGTAATAGTGAATTTAATTGGTAAGTAATCGTCTTTCTCGTCACATAGCCCATTAGGATGTCACCTTTTCTGTTTCTACTTTGCAGGTCATTACACCTACTCTGAGAATCGTGTGGAAAAAGACGGCCTGATTCTTACAAGCCGGGGGCCTGGGACCAGCTTCGAGTTTGCGCCTGCAATTGTTGAAGCCCTGAATGGCAAGGAGGTGGCGGCTCAAGTGAAGGCTCCACTTGTTCTTAAAGACTAGAGCAGCGAACTGCGACGATCACTTAGAGAAACAGGCCGTTAGGAATCCATTCTCACTGTGTTCGCTCTAAACAAAACAGTGGTAGGTTAATGTGTTCAGAAGTCGCTGTCCTTACTACTTTTGCGGAAGTATGGAAGTCACAACTACACAGAGATTTCTCAGCCTACAAATTGTGTCTATACATTTCTAAGCCTTGTTTGCAGAATAAACAGGGCATTTAGCAAACTACTGATTGTTTCTTGTTTTGTCTCTCATTTCTTTTGTGAAATTAAATTCCGTATCACCTTCATTTGCAGCTCTTAACTGTCCATATGGCACTGAAATAAAAGAACAGTGACCACATTTTACACAGCAAGGAGGAAAGGCATACAAACAGAATTTAAGAGGCTTGTGATTTTCTCTGCTTATTAGCTGTGTGTTTTTAATGTGCTATTAAAAAATACCAATGAGGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAAACCGAGCCAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGTCTCCATCTCTACAAAAAAATACAAAAACTAGCCAGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTTAGGAGCCTGAGGTGAGAGGATCACTTGAGCCCCAGGGGGTCAAGGCTACAATGAGCTGTGATCACACCACCGCACCCCAGCCTGGGTGTCACAGCGAGACCCTGTCTCCAAAAAAAAAAAAAAGAAAAAAAGTTGGCTGTACTGGTGAATTTTTATACACCAGTTCCTTTTTCCATTATGGAAAGAGTACTTGGATAAAAACTTTTCAAGGTTGGCCCAACATCTCTTTTCCCTTCCCCAGGTAATAGCACCCAGCATTCCTTGTGAACCACCCAGTTCCTCCTGGGCGGGCACATGATCCAGACCCAGCCAATCCGAGCCCTGTTTACCACTGGCCGTGTGACCCAGGTGAGCTCAGTCAGTCCACGAGACTCCATCCGAGGGTCTCATAGCTGCTGGAGTGGCCAAGAGGATATGCTGGCAACCCAGAGCACTGGCAGCCGTCTCGTCACTGCCAGCGAAAGACCTGCTTGGGACGGCTCTCACGCTGTGGGTGGCTGACCCTAGTCCAGAAGGCTGGGCAGATGTTAACTTTTACAATGCAAACACATGTGTAATTGTCTATTTTAGTAAGTGCTTTAACAGATGATAATGCTAAGGGAGAGACGATTTCCATGGTGGGGAGTGGGGAGGGAGGCTTCTGAGGAAGTGACATTTCAGGTGTGAAGTAGGAGCAGTGCTTAGGCTTTCATTCCTTCCCCAGCTGTGTGCTCAGTCAGTACCTACTGTGTGCCAAGTGCTGTTCCTGCTGCTGGGAATACGCCAGGGAGAAACACAGCCTTTGTCCTTGGGGAGCTTATGTTGTGGGTGCCGGGGAGAGATGAAAGCAAATACGAAAATACCCACATTCTATGAAGAAAATTAAGGAGGGTAAGGAGGCAGTGACAGGGGAATTGCATGATGGGAAGTGAAGGCCTCTCCGAAAAGAGATCTTAGTGGGAATCTGAGGACTTTTGGGTGTGAAAGAGACAAGTAGGTGTCTGTTCAGAGCATACCAGGCAGCAGGAGCAGGGAGTGTAGAGGCCCTGCCGCAGGAGCATTGAGAGGCGGGTTAGAGAAACATGGTAGGAGGTGAAGTTGGAGAGGTAGCCAGGGCCATGGTGAGGTGTCAAGACAGAGACAGAACCACCAGAGAGAGACCTGACCCACCTCGTTCAAAGACTGGCCCTGCAGAGAAGAGACCCTTCTGGAGCAGGCACGCAGGCAGGCGGGATGCTGGGGCCAGTCAGGTGGCAGCATTGGGCACCCACTCAGGGTGTGAGAGGAAGGGCGTCCGGGACAACCCCCACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAGT
Task1_train_89
Mutation context: Chromosome 1, Gene RERE (arginine-glutamic acid dipeptide repeats). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
AATGGACACAGGCCCATGCGCTTTCCATCCCGTGGAAACAGAACAGTGACACTGGAGAACAGAAAGTGAACATTCACCTCCTGCACTCCCTGTGCAAAATGGAAGAGGTCTGATGGAGCAGATGTCTGTGCTGCTGGCAGAGCACAGGCTAGGAGCAGACACAAGTGAAACGCCAGGCAGAAAACAGAGTCTGTAACATCGTCCCTGCAAACCCTGGATGCTCGCTGCTGTGACCAGGCCTCGGTCCAAGCCTCTGTCCATGTGGAACGCCCCTTTGCTCCCTTTAATTAAAGGGATAATTATATATAACTTTTTATTAAAAAATCAACTCTGTATTCTGTCAATAGTTGGTAGGAATTCACAATTAGTGACATGGCTGGAAAAAATAGATCACAATAGTAGTTTATGGAAGAAAAAAAGGCTGTTCTAAAATTATTTATTTACAGACGTAAAAAGCCATGCTGCAGAACTTTCTCCAATTATGAAGATTTCCTACAATGTATTAAAATAAAAGATTTTTTTTTTTAAAAATTATAGCTCTTGGATTCCAAATTCCTATGCCCCCGATCTGCAAGCCTCGTGGGCTCTGGAGCACTCGTGGCGGAGTGTGTCAGTGTGTCTGCACGCACAGTGAAGGGTGTGAACTGGATTCTAGCACCTACTGAGAAATCAAGGAAAAGAAAACTAAAGCCAAACCCCAAGATTGCAGGGAAGCTTTCTGGATGTTCAGTCCAGTCCAGGACTCACTAAGTTTCTGGGGGACTGTCATGCAGGGAGATCCAAACCAGTCTCAGGAAATCCTCTCGACAAACGAACACTACTATGTGGATACATTTTTAGTTGTGGGTTTTTAAATATATAAAGAAATCTTTAGAAGATATTCTTTTTGCTTTTGCAGCTCCTATTTTATGTAAAAAGTCCTGTTTCTCCCCCCAAGAACTGGGGTTTCCACAGCCAGCGTTAACAAATAAATAACTTATAACTGCTTGTCACCTTCTTTCTTCAGTCGACTGGAAAGACAAAACAGGAAAGCGTATTTAGTCTCAGGCCTAGGCAGGCAGTCACGCAGGCTGGAGGCAACCCCAAAGACAACAGCCAGGCAATCCAACCCCAAGCCCGCAGCCTCCTGTGTAGCTGACCTACCCTCCCAACACCTCCCTTCCTCTGTTTCTCCCATCACCATGGTTCCACAATGTCCCCTCCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTGGGCACACGGGGAGGTTGGGAGCCTGGGCTCAGATAACCCCTCCACTCCCTCCCAGCACCCCACCTCACCTGTAATAATCTTCCTGACTTGGTAGGTGGCCACCATGCATGTGGGGGTGTCCATGCAGCCACTGCTGCTCCATGGCCAGTCTCTGCAGCTCGGCCGACTGGGCATGCATGGCCTGCAGCTGGTGGGCTGCTGACATGGGGGGTGGGATGGCCCCAGGCAGGTCACGGGGGTAGGGGGTGCCTGCCGAACACAAAACAACCTGCGCTACAGAAATAGCCAGAGGACTGGCCAAGACCAGGGCGGCACAGGCACAGCAAACGGCAAAGAGCACAGGAGAGGTGCCAGTTCGGACACAGGAGCCAGCCCCTCCCAGACTCTGCAGACAGCCAGAGGGCAGAGCCTCTGGGGAGGCAGGAGGTGCCCTTGGGTGCCTCTGCCTGGACCTGCCTGGCCCCTCCTCCAAGGCCTCAGCCCAAGTGCTTCTCCTTCAGAGACCTGCCGTGAGTCCCCTCTGCTACTTTCACCGGCTCTTAGCAAGGCTGATGCATTTATGACCCCTACCCCAGACAGCCCCCAGAGGGCAGGAGGCTTGTTCCCCCACGGACCCCCTGCATGCAGGGGGAGCGAACCCACCTGCTCAATGCATGAATGAATGAATGAGTAATGAATGAAGACAGCAGACCAGACCCCAACCCAACCCTCACACGGCCTCCCCGCCCCTCCTGGAGGGGAAGTCTTACCGAAAACTGGGTGGCGAAGCATCTCGTGCTCGTGTGGGGGCTGTCCAAGCAGAGGGTTGGGGAGAGTGCCAGGCGGGTAGGGGAAGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGG
AATGGACACAGGCCCATGCGCTTTCCATCCCGTGGAAACAGAACAGTGACACTGGAGAACAGAAAGTGAACATTCACCTCCTGCACTCCCTGTGCAAAATGGAAGAGGTCTGATGGAGCAGATGTCTGTGCTGCTGGCAGAGCACAGGCTAGGAGCAGACACAAGTGAAACGCCAGGCAGAAAACAGAGTCTGTAACATCGTCCCTGCAAACCCTGGATGCTCGCTGCTGTGACCAGGCCTCGGTCCAAGCCTCTGTCCATGTGGAACGCCCCTTTGCTCCCTTTAATTAAAGGGATAATTATATATAACTTTTTATTAAAAAATCAACTCTGTATTCTGTCAATAGTTGGTAGGAATTCACAATTAGTGACATGGCTGGAAAAAATAGATCACAATAGTAGTTTATGGAAGAAAAAAAGGCTGTTCTAAAATTATTTATTTACAGACGTAAAAAGCCATGCTGCAGAACTTTCTCCAATTATGAAGATTTCCTACAATGTATTAAAATAAAAGATTTTTTTTTTTAAAAATTATAGCTCTTGGATTCCAAATTCCTATGCCCCCGATCTGCAAGCCTCGTGGGCTCTGGAGCACTCGTGGCGGAGTGTGTCAGTGTGTCTGCACGCACAGTGAAGGGTGTGAACTGGATTCTAGCACCTACTGAGAAATCAAGGAAAAGAAAACTAAAGCCAAACCCCAAGATTGCAGGGAAGCTTTCTGGATGTTCAGTCCAGTCCAGGACTCACTAAGTTTCTGGGGGACTGTCATGCAGGGAGATCCAAACCAGTCTCAGGAAATCCTCTCGACAAACGAACACTACTATGTGGATACATTTTTAGTTGTGGGTTTTTAAATATATAAAGAAATCTTTAGAAGATATTCTTTTTGCTTTTGCAGCTCCTATTTTATGTAAAAAGTCCTGTTTCTCCCCCCAAGAACTGGGGTTTCCACAGCCAGCGTTAACAAATAAATAACTTATAACTGCTTGTCACCTTCTTTCTTCAGTCGACTGGAAAGACAAAACAGGAAAGCGTATTTAGTCTCAGGCCTAGGCAGGCAGTCACGCAGGCTGGAGGCAACCCCAAAGACAACAGCCAGGCAATCCAACCCCAAGCCCGCAGCCTCCTGTGTAGCTGACCTACCCTCCCAACACCTCCCTTCCTCTGTTTCTCCCATCACCATGGTTCCACAATGTCCCCTCCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTGGGCACACGGGGAGGTTGGGAGCCTGGGCTCAGATAACCCCTCCACTCCCTCCCAGCACCCCACCTCACCTGTAATAATCTTCCTGACTTGGTAGGTGGCCACCATGCATGTGGGGGTGTCCATGCAGCCACTGCTGCTCCATGGCCAGTCTCTGCAGCTCGGCCGACTGGGCATGCATGGCCTGCAGCTGGTGGGCTGCTGACATGGGGGGTGGGATGGCCCCAGGCAGGTCACGGGGGTAGGGGGTGCCTGCCGAACACAAAACAACCTGCGCTACAGAAATAGCCAGAGGACTGGCCAAGACCAGGGCGGCACAGGCACAGCAAACGGCAAAGAGCACAGGAGAGGTGCCAGTTCGGACACAGGAGCCAGCCCCTCCCAGACTCTGCAGACAGCCAGAGGGCAGAGCCTCTGGGGAGGCAGGAGGTGCCCTTGGGTGCCTCTGCCTGGACCTGCCTGGCCCCTCCTCCAAGGCCTCAGCCCAAGTGCTTCTCCTTCAGAGACCTGCCGTGAGTCCCCTCTGCTACTTTCACCGGCTCTTAGCAAGGCTGATGCATTTATGACCCCTACCCCAGACAGCCCCCAGAGGGCAGGAGGCTTGTTCCCCCACGGACCCCCTGCATGCAGGGGGAGCGAACCCACCTGCTCAATGCATGAATGAATGAATGAGTAATGAATGAAGACAGCAGACCAGACCCCAACCCAACCCTCACACGGCCTCCCCGCCCCTCCTGGAGGGGAAGTCTTACCGAAAACTGGGTGGCGAAGCATCTCGTGCTCGTGTGGGGGCTGTCCAAGCAGAGGGTTGAGGAGAGTGCCAGGCGGGTAGGGGAAGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGG
Task1_train_90
Located on Chromosome 1, this mutation impacts RERE (arginine-glutamic acid dipeptide repeats). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
CCAGGCGGGTAGGGGAAGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCC
CCAGGCGGGTAGGGGAAGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCCGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCC
Task1_train_91
A variant affecting Chromosome 1, within the gene RERE (arginine-glutamic acid dipeptide repeats), has been observed. Determine if it's benign or associated with disease.
Pathogenic; not provided
GAAGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTC
GAAGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGCTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTC
Task1_train_92
With a mutation on Chromosome 1 in gene RERE (arginine-glutamic acid dipeptide repeats), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
AGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCT
AGCGAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTAGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCT
Task1_train_93
Gene RERE (arginine-glutamic acid dipeptide repeats) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAA
GAGCCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGGGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAA
Task1_train_94
Here’s a variant in RERE (arginine-glutamic acid dipeptide repeats) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; not provided
CCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCC
CCAGGTGGGGACCGGCAGTCAGGGGGTCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTAAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCC
Task1_train_95
A genomic change on Chromosome 1 affects RERE (arginine-glutamic acid dipeptide repeats). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Inborn genetic diseases
TCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGC
TCGACCAGCGGGTGAACGGGGCCTGCTGAACCTAAGGAAAGGACAAAACGCCAGATGGAGGCGGTGTGCAGCTCTTCAATGTTTGTCCCCCTTGGCTGGAATGACCGATGACTTCCTCCTCACCCAGGATGGCTCCTGGTCACCAGGGCTGGATGCACCACCTGGCTACAGGTGGCCCTGCCCCAAAGTGGCTGCCTCCACCTTCAGCAAGAGCTCCAGAGGCCGAGAGAAGTGACGAGCCCACCGCTGATGCAGGCACTCCCTCGTCCGCTTGTGGAGTGCCCCTAACAGGCAATCCCAGGCCAGTTTTGTCGAGGACCCGGGATCAGCAGGGTCCCTCTCGCCGGCCACCTGGGCCTGCCCTCTGCCTGTCAGGTCACAGGAACACACAGCCTTGCGCCAGTGGGTGTTGGGCTGGCACCCCCTGCCCAGGGCTGTCTCCCTGCTCTTCACTCGCAGAACCTAAAGGAGGCCAGCAGAGTGGGTGGCGCAGAATGGGGACCTGGCACAGCACTGCCCTCTCCTCTCTGCTGGCACAAATCTTGCGTCTCTCCCTTCAGAACGTTGCCTTGATCTGACCTCACTGCACCACCTCCTGCCCTCACCTCCTATCTCCCAGCTCCAGCCAACACAGGCGCTGGCAGGGATTTCAGGGTTGCCACCTCCAGCCATGCTGCCCTGGGGTCCCTGGAAGATTGGGAGCCCCCGCTCTGCCTCTGTGGCTGCTCTTGCCCCGATTTCCCACAGCTTGCCCTTTCATCTCCTCCATGTTTCTGCTACCTCCTCAGCGGACCTCTCCTGACGGCCTTCTCGAAACCGCCATACTGCCCCTGCGCCCAGCTCTCCTGATCCCCTCTTCTGGATTTATTTTTTTCCAGAACATATACTTTCTGCCTCTCACAACGTGGCACACGTCTTTCAACTATCTCCCCAAACTGGAAGGTAAATGTGGACAGGGGTTCTGCCAGCACCTACAACTGTGCCTGGCACATTCCAGGGGTTCAGTAAACACTTGCTGAATGAATGATGCATGAATGAACAAATGACTACCTGTCCTCAACACTGCTCATACTGAGGCTTGTAAGGTCTACACCAGGTGCCAACAGAGCTTCAGATATGAGGACGGCAATGGTGAGTGCTCTCCCATGTCAGGACTGGGTACAGGGGCAGGGGAGGCGCCTGGTGCCTCCAAGCAAGGTGGCTCCCCGCCCTCCCTCTGGGCCCTGCTCTATCAGTCATCCTGCCCCACACTGGAGGGTGGCCAGTGAGGAAGCCCTGCACGTAGGCTGTCCCACAGGACCTGTACTCCAAGTCCCATGGAGCAGGTGAACCTGCCTCCTCGTAAGCACAGTAGCCACCCCCTGCGCCATCTCACCAGGCTGCAGAGGGAGTGAGGATGCCAGCTGGGCCTGCCTCTGCCTCAGAGCAGCCTCTCCACAGCTGGTCAATGAGTGGCCTTAAGGAGCTCCTACTTCCAGGGTGGACAGGACTGAGCAGCCCTGGCCAGGTGGGTCAGCTCGGAAAACTCAGCCAAAGCCAGCAGGAGGCCTGCCCAGCCTCGCTCCTCAAGGGAAGAGGACTGTGCTTTTCATTCTCCCTCAGCCACCCTTGAGTAGCCCAGTGCCTTATCTGTACGTTCCTTGGCTCCAAAGGCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCAGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGC
Task1_train_96
This sequence change occurs on Chromosome 1, altering RERE (arginine-glutamic acid dipeptide repeats). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCCGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTACTCTTAAGAGGGGAAGAGGCTTCCTCCTTCACCTTCTGCAGGGGAAAAGCCCACAAGGAGCAATCAGGCCAAGGGAGACCATCCCATCAGCCTCAGCAAGGAAATGACGGTTTGCAGACACT
GCCACATGACACTGCTCTGCTGCCCTTACCCTGCCCTGTGGGCCTAGGCCACTTCCCTCCATCCCAGGCACAGGGCCAAGAACCCAGGCTTCACCCGTGTGCTGCAGCTGTCTGAGGCCTTGCAGTTCTGGAGAGCTGCGGGGCCGAGGAGAGACTGCGATACAGCAAAACCATGACGGTAGTGGATGCTGAGCTCTTCTAAGATCTGCCAGGGATGAGGGATCTGTTCAGAAAAGAACAGTTTCCGCTCCTGGATGGTGACTGTCACTCATCAGGCTCTGCACCCCTCCCCGTGCCTCTGTCCCACCTGCCACGCTGGGGCACGCACCTTGGTGGAGGGGGTCCTGCTGGTGGAGGTGGAGGTGGGAGTGAATGTGAGAGTGCTGGTGATGGTGCGGAGTCACGTTGAACATCTGCAGTCGGGCCAGGGGATCGCTGGTCAGCGATGCCATGCGCTCTGCGTGGATACGCTCGGCTGCCAGTCTGTCAGGGTAGCTCATCTCGGGCCGCAGCTGGGGGCCCGCCAGGGCCAGTCTCTCCCTCTCCAAGGGGTTCAGGCCCGGGTGGAAAGAAGCAAAAGGGTGGGGCCCGGCGGTCGGGGGGATGGTGAGGGCGCTGTGCCGGGCAAAGTGCTCCATGGGGTTGGCGGCTGGGTGCAGGGGGTCCAGCTCTGGGGGCTTCACCTCGAAGCCCGGCTTCATCCTCTCCCGCAGCTCCCGCTCTCGGATCTCCCGCTCTCGGATCTCCCGCTCCCGGAGCTCCCGCTCGCGGATGGTGGGGTCGACGTTGTAGAGGCCAGGCATGTGGTAGGCCAGCAGGGGGTCCGTGGGGTTAAGGGGCATGTAGAAGGGGTGGTTGCGGTTGGTGGGCGACATGACGTGGGGCCGGGCGTACTCGCTCAGAGTCCGAAGGGCAGGTGTGTCGGGCCCGATGTAGGGGGGCACAGCAGCAATGGTGGTTGGTGGTGGCTCGAAGGATGGCCGCATGTGGCCAGGACCACTGAGCTGTGGGTCACTGAGGCGACCTTCATGCGCTGAGCTGGACGCCTTCTGCAGAAGGAAAAGAAAGCGTGAGGGGTCCCCCGAGCGCCTGGGGTCTCCGCTTGGTCCACACTGCGGAGGTGGGCCTGGTCCTGCTCCTGGCCTGCTCTGACAGGCCAACCTGGTCCCTCCACGGAGACCCGGCCCTGCCTTGGCCTGACACCAGGATGCAGTCCAGGCCCCACAGGGTCGGGCTCACCTGTGCCCGCAGCTCCCCTCAGGCCCAGATGGGAATGTGTCCCTGTGAGACTAAGCTCATGCATGGGTTGTCTACGTGTGAGGGTTGTGTCTGGGAGTGACAGCTGGGGGGCATGGGTGAGTGAGCCCAGCAGGCCAGGAACCTCACTGGCAGTCCCTCATGCCACTTCCTGGGTTGGCTGCCCTTTCCTCCCCGCGACAGCAGAGAGCTGGCCACCACCACAGCACCCAGCCCACGAGGGGGCCACAAAGGCAGGGCAGCTGGAGAGGCCCCTCGCAGCCTGCTTATCGCCTGAGTGCTCAGGTCTTCTCTCAAGGCGCCCCCTTGTGCTTCTCCCCGACTCCTTCAAATTACTTAGAAGTTATGAACCCAAAGGCTGCAGGAGAAGGACAGGCCCTTTCCTCGAAGGCCCTCCGGTAGGAGGACGCACAGTCACTGCTGGGAGTCAGCCTAGACCTGCCATGCGCAGTTACCCCGGCAGCTTCGGATGTGCAGCACCCGTCAGAGGTGTGGAGACAGGGTGTAAATAGCACCCAACCCTCTAGCTGCCAGGAGGCCGAGTCAGGCAGCCAAGGGCAGAGCTCGGTGGCCCAGCGTGGCTCCCAGGCGCAGGATGGACCAGCGCCCCCCGTCACACCTCGCCAACCCTGGACTCACAGCCGCCCGCTCTGCCTCGCGCTCCCGCTCTCGCTCCCGCTCCCGCTCCTTCTCCTTCTCCTTCTCCCGCTCTCGCTCCTCTCGGGCTTTCTGCTCAGCCTCGCGCTTGGCCTTCTCAATGGCCTCCTCCCTCTTCTTGGCCAGCTTGGACCTGGCCAGAGGCATGAAGTACAGGTCTGTCCGGGCACACGAGTTGTAGCCCCGGTCCAGGTGTTTGTAGAACCTGAGAAAAGCCACAGATCTTGCTGGGAGCTCCTGCCGAGACCCACCCCGGCCCTCCCTCCCACCAGAACTTGCCCCCACCAGCCCACCTGTGCCTGACCCGTCCTGGAGCCCTAGGAAGCGTACCTAGCTGACTGGCTGGCGTGACTGGGGGTGTCCACCACAGTGGGCTCCGGGGACGGGCTCCTTGGTGGGGGAGGGGGGCTCTCAGGCTCCTCAGCGTCGTCCAGAGCCTCCTCCTTGATCTGGACGGTGGGGAGTGGGCAGGACGACCCCCCCGCTATGCTGCCTCCTGAAGCCGCCGCACCAGAGCAGGGTGGCTGGGCCGAGGTGCCAGGTCCCGCCGGTGGGGTAGAGGTGGAGGGGCAGGTCGGAGGGGTGATGGGAGGAGGGCCTCCAGGGACAAAGGGGTGCTGAGCAAACGGGGGTTGGGGGGCCACCTGGTGGAGGCCTGTAGGGGGGTGGGAGGCAGGGGGCGGGGGCAGGTTCTGGCTCTGGGTCAGCCCGGGGGGCTGGGCGGGCGAGGAGGGCAATGGCTGGCTCTGAGGCATGAGTTGCAGGGGTGGGGGGTGAGCCGACGGGGGGTGATGTGTGGACAGGGAGCTCAGGGGCTTCAGGGCTGGAGGGGGAGGCAGGTTGGCATTCATGGAGAAGGGTGAGGGCCCCGAGAGGTGGGGAGGGTGCTTGTGGGCCTGTGGCGCCGGCAGCTGGGGGATGGGAGTGGTAGGCGGGGGCTTGATGTGGGGCATGGCCAAGGGCGCTGGTGGCAGGGGCTGCTCCCGTGGAGGCTGTTGGGACTGCAGCGCTGACTGAGAGGCTGGCAGCTGCAGGGAGGTGTGAGGGTACGCTGCTGCTGGGGAGGTCCCCAGAGGGGCCTGGCCTTGGGAGGCCTGGGGAGGGAGGCCAAAGGGCTGTGGGGGGCCTGGGTGCTGCAGCAGGGGCCCAGCCTGCAGGCTGTGAGGGCCGGGTGGGCCCTGACCGTGCAGTGGGGGCTGGGCATGAGAGGGTGCAGAAGGCTGGCCCGCCGACCCAGTCAGAGGCTGCAGCGGGGGATGTGGCGAGGGATGCGGCGGGGGATGCGGTGAGGGCGGCCGCTGGGGGTGCAAGGCCGGTGCCTGTTGGATGTGGGTGTGGGGAACAGGCGCTGTGGGAGCCTGTGGCTGGTTAGGGGCCTGGGAGGCCGTGGGGGAGCCCTGTGGGGGAACTGCAGTGGCAGAGGGCGTGGGCCCTGGCGTGGGCAGCTGAGGGGTCCCTGGAGGAGCTGAGGAGGGAGCTGGGGTGACCCCAGTGGGAGCCTGCAAGGCTGGGGGCTGGGCCTGCAGCATCTGCTGCTGGGCTGACGAGTCCGAGTCACTCTCATTGTCCTGGGGGCTGGGGATGCTCGGGGACGTGCTGCGATTGTCCTGGTCGATGTCTTTGGGGTCACTGCTACCCTCATCGTTGACGCTGCGACTGTCTGAACTCTCTCCCTCACCTTCAGATGGCGAGTTGGGCCTGCTGATCTCCTGGAGTCAGAGAAGGGAAGGATGGAAGTCCCAGGAGGGCAGAGCCCTGTCTGCTCTGCACCACCAGTGCCGGACACACAGTAATGTTTGTGCAGATGAAGCAGCAAGCTTGGCTCCGGGACCACAGGTCGTGCCCTGACCCAGCCAGTGTCAAAGGCCACTCCAGCCCCACCCTAGGAGACAGGGCACGGCCACCAACTAGGGAGAACCCCGGCTGGGGGCTTCTGAAGAAGCATTAGCTTTACTCAGCAAGGCTCAGCAGCAAACCTCACCTGCGTTTTTGTCTTCTTGGAGCTGGTCCTGTCAGCCTCCTCCGTATCAGAGGCCACCTTCTCCCGCTGGCGTTTGTTACTCTTAAGAGGGGAAGAGGCTTCCTCCTTCACCTTCTGCAGGGGAAAAGCCCACAAGGAGCAATCAGGCCAAGGGAGACCATCCCATCAGCCTCAGCAAGGAAATGACGGTTTGCAGACACT
Task1_train_97
The gene H6PD (hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Cortisone reductase deficiency 1
CTCCCCTGCACATTGCCTGGCACAGGTGTGCGCCCGGTAGTGAGGTGGCACTTGTTAGTCTCATCCAAGGGCAGGATGCAGGAACAAAAGTCAAGTAACTTACCCAAGATCACATGCTAGTAAGTGGCAGTCATACTCTGGGGTGCTGCAGCCCCCGCCATGGTGCCATAGCCCCCACAGTGCCGAGCCTCCTACTGGCAGTGGCCAGGCAGGGCGGGGCGAGGGGCTGGCCAGTATCTACAGAGGCAATCTGGCCTTTGCTGGGAATAGAGCTTTCTTCATGTGGATTTCTGTAGAGGCTCACGGATTTGACGCCTTCTCTTACAGTAGTTCTCATTGACAGAGGTGGCTTCAAGACTTCCTCCCTCCCTTCTCGTGGTGAGGTTGGCTTTGGTGTGCACCATTTTTATAGGCCCTGTGGACTGGGGGAAGAGGATGCAGGATGAATGTGCGGGCTGGGGTTTTGGTGCACCTCGGGGAGATCTGATGTTCTGGCCTCTCTTTAGATCCTCCCCACTTCTCCACCTCCCTCCACCAGGCCGCACCAGCTTCTATGAGGAGTACGGTGTCATTCGCGACGTCCTCCAGAACCATCTGACGGAGGTCCTCACCCTCGTGGCCATGGAGCTGCCCCACAATGTCAGCAGTGCGGAGGCTGTGCTGCGGCACAAGCTTCAGGTCTTCCAGGCGCTGCGGGGCCTGCAGAGGGGCAGTGCCGTCGTGGGCCAGTACCAGTCTTACAGTGAGCAGGTGCGCAGAGAGCTGCAGAAGCCAGACAGCTTCCACAGCCTGACGCCGACCTTCGCAGGTGGGCCCTGGGGCTGGGCATGGGGCACTGGGCTGCCCACTTCGCCGGGAGCAGCTTTCCAAATGCAGACGCCCTTGGGTGGAGTGGAGGGGACTTGAGGTGGGATTTCCCCCAGGGTGCTCGGAGGCAAGGATGGCATTCCCCTGTCTCCCTGGCCTCCTACCAGCCTAAAGTGGCAGGCCAGCTGGTGGTGCCCTCAGGGCGAAGGACATCCCAATGGCCATGGCCTCGTGTCAGCCCCAGTTCAGTCCCAGATGCTTCCCAAGGGTTTGTCGTGCGAGGCTCAGACAGACCTGGTTCCTGCCTCATAGGGTCTCCCCAGTGAGGCCGCAAGCCTTTTGCCTGGCCACAGCTGGAGACACTTCCAGCGGCCAAGTGCCATGCCAGGGCTGTCCTCTGGGCAGTTCCAGAGACCCAGGGCTTTCTGGGAGAGGCTGGCTCCTCACCAGGTAGCAGCCAGGCAGTAAGAGCCACAGCTGCCTGTTGAGCACGCGCCGTATGCCAGGTGCTTTATAGATGCCTCTCATACAAGCCTCACGCACCAACCACGAGGCAGGGGCCATTAGCCCCGTTTTACAGGTGAGGAAACGTAAGGCTCGGTGAAGTCGTCAGAATGAACCAGGCTTGGAACTTGGGCATGGAATACTGTCAGCCCCTGGCTCTTGCCACCAGGCCTTGTCCCTCCTTGCCAACACCCCACCCACGGGCCTCTGCTTGGTGACTCTCTCCTCACCCCGCACCTCTGACCCTGCGTCGGGTGCATCCTGAATGCTTCACAAGCAGGAGGGAAGCACGTTTCTCTGTAGGACCCCCTGACCCCTCAAATACCTAAGAGTCAGGGTCCCCCACCCCACTTGCCCCCACTGTGGGGCGTCCTTTAGAGTCTCCAGGTTGGATGCTCTCAGCCCGGTTCTCCTTTCCTGGGGGACCATAACTCTAAGAGGGGCCTCAATGAAGGCAGGTGTCAAAGCCATAGAGATAGCCCCAGAGGCCGGTTTTCAAGCATGGACTGGGAAGAGAAGGTCATGGAAGAGATGCCAGGCGAGGGGTGAGCATGGCAAGGCGAGGGGCTTCCCTGAGGCAGGGGGACGCCCAGAGGAGCCGGCAAGGAGAGGAGAGGGCTGGCCGGAGAGTCCTGGTCTGTGCCAGAGAGTCACCCTCTGCTGTTCCCTCACCCCAGCCGTCCTAGTGCACATTGACAACCTTCGCTGGGAGGGCGTGCCTTTCATCCTGATGTCTGGCAAAGCCTTGGACGAGAGAGTGGGCTACGCTCGGATCTTGTTCAAGAACCAGGCCTGCTGTGTGCAGAGCGAAAAGCACTGGGCCGCGGCGCAGAGCCAGTGCCTGCCCCGGCAGCTCGTCTTCCACATCGGCCATGGCGACCTGGGCAGCCCTGCCGTGCTGGTCAGCAGGAACCTGTTCAGGCCCTCCCTGCCCTCCAGCTGGAAGGAAATGGAGGGACCACCTGGGCTCCGCCTTTTCGGCAGCCCTCTGTCCGATTACTACGCCTACAGCCCTGTGCGGGAGCGGGACGCCCACTCCGTCCTCTTATCCCATATCTTCCATGGCCGGAAGAATTTCTTCATCACCACAGAGAACTTGCTGGCCTCCTGGAACTTCTGGACCCCTCTGCTGGAGAGCCTGGCCCATAAGGCCCCACGCCTCTACCCTGGAGGAGCTGAGAATGGCCGTCTGTTGGACTTTGAGTTCAGTAGCGGCCGGTTGTTCTTTTCCCAGCAGCAGCCGGAGCAGCTGGTGCCAGGGCCAGGGCCGGCCCCAATGCCCAGTGACTTCCAGGTCCTCAGGGCCAAGTACCGAGAGAGCCCGCTGGTCTCCGCCTGGTCCGAGGAGCTGATCTCTAAGCTGGCTAATGACATCGAGGCCACCGCTGTGCGAGCCGTGCGGCGCTTTGGCCAGTTCCACCTGGCACTGTCGGGGGGCTCGAGCCCCGTGGCCCTGTTCCAGCAGCTGGCCACGGCGCACTATGGCTTCCCCTGGGCCCACACGCACCTGTGGCTGGTTGACGAGCGCTGCGTCCCACTCTCAGACCCGGAGTCCAACTTCCAGGGCCTGCAGGCCCACCTGCTGCAGCACGTCCGGATCCCCTACTACAACATCCACCCCATGCCTGTGCACCTGCAGCAGCGGCTCTGCGCCGAGGAGGACCAGGGCGCCCAGATCTATGCCAGGGAGATCTCAGCCCTGGTGGCCAACAGCAGCTTCGACCTGGTGCTGCTGGGCATGGGTGCCGACGGGCACACAGCCTCCCTCTTCCCACAGTCACCCACTGGCCTGGATGGCGAGCAGCTGGTCGTGCTGACCACGAGCCCCTCCCAGCCACACCGCCGCATGAGCCTTAGCCTGCCTCTCATCAACCGCGCCAAGAAGGTGGCAGTCCTGGTCATGGGCAGGATGAAGCGTGAGATCACCACGCTGGTGAGCCGGGTGGGCCATGAGCCCAAGAAGTGGCCCATCTCGGGTGTCCTGCCGCACTCCGGCCAGCTGGTGTGGTACATGGACTACGACGCCTTCCTGGGATGAGGGCGCCTGTGCCCCTTGCCCGCTTCGCTCCTGTGCTTTCCTTCGCCCGTGTCTTCCCTCCCTTCTCGGCCCCGCCACCTGCCCAGCGTGCCCTGGCTCTCCAGAACCTTCTATCCCACAGTCAGGCCCCAGAGAGGGCAGGACAAGCCTTGTCCCGATGCCTTTGACCGGCAGCTCTGTGTATTGGTGGATAGATGCAGAAACAAGGAAGAAATGGAGTCTGCTCCTGAGAAGCTTCAAATTCAGGCCAGGAGAGAAGTCTTAAGAAAAGACCTCCAGCAGTTACACATTCATATCAACCAGCACAACACGGGATGGCGCCCAAACTCCGGCGTTCACAAGAGGAGACGTGACGTGGTGGGCTGAGGTTAATCAGGGAAGGTTTCCTGGGGGAGGTGATCCTTGAACTGGCTCCCGGGGAACATTCAGAGCATGATTGGTAGACAGAAGGGTGCAGAGGCGCCCAGGGGAGTACATTGCCCCGTGCAAAGCAGGGGCATTGGGGACTGTCTTGAGACCCTGAGGGGGTCAAGCCCCTCCTTCCCCAGCTGCCCCTCCTTCTAGAACCTCTGCACATCTAGCCTCTGGCCCTCCTCTTCACTGCCTCCACCTGCTCCCGCTTGCCATCCCTGTCTCCTCCATCCTGGCTGTGCAGTAGGAATTCCAGGCTCCTCCCTGTGTCTTTGCTGTTCTTCAGACTCCATTTATAGAGAATGAGGGCTGATAACAGGAATACAGTGGCAAAGA
CTCCCCTGCACATTGCCTGGCACAGGTGTGCGCCCGGTAGTGAGGTGGCACTTGTTAGTCTCATCCAAGGGCAGGATGCAGGAACAAAAGTCAAGTAACTTACCCAAGATCACATGCTAGTAAGTGGCAGTCATACTCTGGGGTGCTGCAGCCCCCGCCATGGTGCCATAGCCCCCACAGTGCCGAGCCTCCTACTGGCAGTGGCCAGGCAGGGCGGGGCGAGGGGCTGGCCAGTATCTACAGAGGCAATCTGGCCTTTGCTGGGAATAGAGCTTTCTTCATGTGGATTTCTGTAGAGGCTCACGGATTTGACGCCTTCTCTTACAGTAGTTCTCATTGACAGAGGTGGCTTCAAGACTTCCTCCCTCCCTTCTCGTGGTGAGGTTGGCTTTGGTGTGCACCATTTTTATAGGCCCTGTGGACTGGGGGAAGAGGATGCAGGATGAATGTGCGGGCTGGGGTTTTGGTGCACCTCGGGGAGATCTGATGTTCTGGCCTCTCTTTAGATCCTCCCCACTTCTCCACCTCCCTCCACCAGGCCGCACCAGCTTCTATGAGGAGTACGGTGTCATTCGCGACGTCCTCCAGAACCATCTGACGGAGGTCCTCACCCTCGTGGCCATGGAGCTGCCCCACAATGTCAGCAGTGCGGAGGCTGTGCTGCGGCACAAGCTTCAGGTCTTCCAGGCGCTGCGGGGCCTGCAGAGGGGCAGTGCCGTCGTGGGCCAGTACCAGTCTTACAGTGAGCAGGTGCGCAGAGAGCTGCAGAAGCCAGACAGCTTCCACAGCCTGACGCCGACCTTCGCAGGTGGGCCCTGGGGCTGGGCATGGGGCACTGGGCTGCCCACTTCGCCGGGAGCAGCTTTCCAAATGCAGACGCCCTTGGGTGGAGTGGAGGGGACTTGAGGTGGGATTTCCCCCAGGGTGCTCGGAGGCAAGGATGGCATTCCCCTGTCTCCCTGGCCTCCTACCAGCCTAAAGTGGCAGGCCAGCTGGTGGTGCCCTCAGGGCGAAGGACATCCCAATGGCCATGGCCTCGTGTCAGCCCCAGTTCAGTCCCAGATGCTTCCCAAGGGTTTGTCGTGCGAGGCTCAGACAGACCTGGTTCCTGCCTCATAGGGTCTCCCCAGTGAGGCCGCAAGCCTTTTGCCTGGCCACAGCTGGAGACACTTCCAGCGGCCAAGTGCCATGCCAGGGCTGTCCTCTGGGCAGTTCCAGAGACCCAGGGCTTTCTGGGAGAGGCTGGCTCCTCACCAGGTAGCAGCCAGGCAGTAAGAGCCACAGCTGCCTGTTGAGCACGCGCCGTATGCCAGGTGCTTTATAGATGCCTCTCATACAAGCCTCACGCACCAACCACGAGGCAGGGGCCATTAGCCCCGTTTTACAGGTGAGGAAACGTAAGGCTCGGTGAAGTCGTCAGAATGAACCAGGCTTGGAACTTGGGCATGGAATACTGTCAGCCCCTGGCTCTTGCCACCAGGCCTTGTCCCTCCTTGCCAACACCCCACCCACGGGCCTCTGCTTGGTGACTCTCTCCTCACCCCGCACCTCTGACCCTGCGTCGGGTGCATCCTGAATGCTTCACAAGCAGGAGGGAAGCACGTTTCTCTGTAGGACCCCCTGACCCCTCAAATACCTAAGAGTCAGGGTCCCCCACCCCACTTGCCCCCACTGTGGGGCGTCCTTTAGAGTCTCCAGGTTGGATGCTCTCAGCCCGGTTCTCCTTTCCTGGGGGACCATAACTCTAAGAGGGGCCTCAATGAAGGCAGGTGTCAAAGCCATAGAGATAGCCCCAGAGGCCGGTTTTCAAGCATGGACTGGGAAGAGAAGGTCATGGAAGAGATGCCAGGCGAGGGGTGAGCATGGCAAGGCGAGGGGCTTCCCTGAGGCAGGGGGACGCCCAGAGGAGCCGGCAAGGAGAGGAGAGGGCTGGCCGGAGAGTCCTGGTCTGTGCCAGAGAGTCACCCTCTGCTGTTCCCTCACCCCAGCCGTCCTAGTGCACATTGACAACCTTCGCTGGGAGGGCGTGCCTTTCATCCTGATGTCTGACAAAGCCTTGGACGAGAGAGTGGGCTACGCTCGGATCTTGTTCAAGAACCAGGCCTGCTGTGTGCAGAGCGAAAAGCACTGGGCCGCGGCGCAGAGCCAGTGCCTGCCCCGGCAGCTCGTCTTCCACATCGGCCATGGCGACCTGGGCAGCCCTGCCGTGCTGGTCAGCAGGAACCTGTTCAGGCCCTCCCTGCCCTCCAGCTGGAAGGAAATGGAGGGACCACCTGGGCTCCGCCTTTTCGGCAGCCCTCTGTCCGATTACTACGCCTACAGCCCTGTGCGGGAGCGGGACGCCCACTCCGTCCTCTTATCCCATATCTTCCATGGCCGGAAGAATTTCTTCATCACCACAGAGAACTTGCTGGCCTCCTGGAACTTCTGGACCCCTCTGCTGGAGAGCCTGGCCCATAAGGCCCCACGCCTCTACCCTGGAGGAGCTGAGAATGGCCGTCTGTTGGACTTTGAGTTCAGTAGCGGCCGGTTGTTCTTTTCCCAGCAGCAGCCGGAGCAGCTGGTGCCAGGGCCAGGGCCGGCCCCAATGCCCAGTGACTTCCAGGTCCTCAGGGCCAAGTACCGAGAGAGCCCGCTGGTCTCCGCCTGGTCCGAGGAGCTGATCTCTAAGCTGGCTAATGACATCGAGGCCACCGCTGTGCGAGCCGTGCGGCGCTTTGGCCAGTTCCACCTGGCACTGTCGGGGGGCTCGAGCCCCGTGGCCCTGTTCCAGCAGCTGGCCACGGCGCACTATGGCTTCCCCTGGGCCCACACGCACCTGTGGCTGGTTGACGAGCGCTGCGTCCCACTCTCAGACCCGGAGTCCAACTTCCAGGGCCTGCAGGCCCACCTGCTGCAGCACGTCCGGATCCCCTACTACAACATCCACCCCATGCCTGTGCACCTGCAGCAGCGGCTCTGCGCCGAGGAGGACCAGGGCGCCCAGATCTATGCCAGGGAGATCTCAGCCCTGGTGGCCAACAGCAGCTTCGACCTGGTGCTGCTGGGCATGGGTGCCGACGGGCACACAGCCTCCCTCTTCCCACAGTCACCCACTGGCCTGGATGGCGAGCAGCTGGTCGTGCTGACCACGAGCCCCTCCCAGCCACACCGCCGCATGAGCCTTAGCCTGCCTCTCATCAACCGCGCCAAGAAGGTGGCAGTCCTGGTCATGGGCAGGATGAAGCGTGAGATCACCACGCTGGTGAGCCGGGTGGGCCATGAGCCCAAGAAGTGGCCCATCTCGGGTGTCCTGCCGCACTCCGGCCAGCTGGTGTGGTACATGGACTACGACGCCTTCCTGGGATGAGGGCGCCTGTGCCCCTTGCCCGCTTCGCTCCTGTGCTTTCCTTCGCCCGTGTCTTCCCTCCCTTCTCGGCCCCGCCACCTGCCCAGCGTGCCCTGGCTCTCCAGAACCTTCTATCCCACAGTCAGGCCCCAGAGAGGGCAGGACAAGCCTTGTCCCGATGCCTTTGACCGGCAGCTCTGTGTATTGGTGGATAGATGCAGAAACAAGGAAGAAATGGAGTCTGCTCCTGAGAAGCTTCAAATTCAGGCCAGGAGAGAAGTCTTAAGAAAAGACCTCCAGCAGTTACACATTCATATCAACCAGCACAACACGGGATGGCGCCCAAACTCCGGCGTTCACAAGAGGAGACGTGACGTGGTGGGCTGAGGTTAATCAGGGAAGGTTTCCTGGGGGAGGTGATCCTTGAACTGGCTCCCGGGGAACATTCAGAGCATGATTGGTAGACAGAAGGGTGCAGAGGCGCCCAGGGGAGTACATTGCCCCGTGCAAAGCAGGGGCATTGGGGACTGTCTTGAGACCCTGAGGGGGTCAAGCCCCTCCTTCCCCAGCTGCCCCTCCTTCTAGAACCTCTGCACATCTAGCCTCTGGCCCTCCTCTTCACTGCCTCCACCTGCTCCCGCTTGCCATCCCTGTCTCCTCCATCCTGGCTGTGCAGTAGGAATTCCAGGCTCCTCCCTGTGTCTTTGCTGTTCTTCAGACTCCATTTATAGAGAATGAGGGCTGATAACAGGAATACAGTGGCAAAGA
Task1_train_98
Assess the clinical impact of this variant on gene LOC126805612, PIK3CD (MED14-independent group 3 enhancer GRCh37_chr1:9778914-9780113| phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Immunodeficiency 14
GAGGTTATGGGGCCAGGTTCAGCCCAGGGATCCGGGACCGCAGAGCTGGGGGAAGGGCCGGGCATGGAAGAGGGGCTGGGTCCAGCTGGGCTGGGGGCTGTGGTGCTCCCTGGAGGCACCAGGGCGGTGCCTGCAGCCTGTGAGGGCTGCACCTGCCTCAACCTCTAGGGGCTGAGCCCACCTCCCTGTTGTCTCTTAACACTTTCACACGCTCCATCGCAACAGCCTGCAGTCATGGGCTTTATTGTCCTGTTTGCTGGACATGATACCTGAGTCCTCAGAGGTTGGCCCTCCTGCCTGGAGTGTGTTTCACTGGGGAAATCGTATAAGCAGGGCAGGTCTGGGTTCCACTGGCAGGAATCGAGGGGGACTGGATCAGAGGGACTTCCAGGGTGGTGGTGTCAGGTGGAATTGGAAGGGGCCGGACATCAGGTGGCAGGAAAAGTCCTTCCCCACCCACATGGGCTCATAGGAATCTGAGAAGTCCAGGGAGCCCTAGGATGTTAGAGCAAGGGTCCCTGAAGTTCTTGATCCCTGATGGGGAAACTGAGGCCTGGAGTGGGGAATGGACATGCCCCGAGGTCCCCAGAGTTGGGGTAGCTGAGACAGGGCACCCATGCACAGCCCGTGGTACCCTCCCTCACCCCAGGGCCGCTCATGCCCCTCAGGCCTTCCCTGTGCTGCACCACCTTCCTTCGTGTGGGAAGTAGAGTTCAGACCCACCTGAGGACATTCAAGGGGGAGACTGACACCTTAAGGGGGAGGGGAGAGGGGCTGGGCCTCTGCCTCCTCACCCATCATCCCGGCACCTTCTACAGCTGGTGGTGCAGGCCGGGCTTTTCCACGGCAACGAGATGCTGTGCAAGACGGTGTCCAGCTCGGAGGTGAGCGTGTGCTCGGAGCCCGTGTGGAAGCAGCGGCTGGAGTTCGACATCAACATCTGCGACCTGCCCCGCATGGCCCGTCTCTGCTTTGCGCTGTACGCCGTGATCGAGAAAGCCAAGAAGGCTCGCTCCACCAAGAAGAAGTCCAAGAAGGCGGTGGGTCCCAGGGCCGGCTGGGAGGGGTGCAGACCCCGGAGAGCCAGTACAGCCCCTTGCTGGGCCACTCACCACTCTCCTCCCGGCAAGCACGCAGCCTGGGGATGGGGGTCCTGGGATTGCTTGTGGACCCCAGCCTCCTCACCCACCCTAGTCTGGCCACCAGCCCTGCTCGAGGGACACTCTGGGCTCCTGGGCTCCTGTGCATGCGGCCTCAGAATATCTGGCCTGGGCTGTGGTCCTGCAGGAACCTGCAGGTAGTGCCCTGGGATGGAAGGACAAGCACAGTGTCATCCCTGGAGCAGAAAAGCCTGAGTCAGCGGCTGGCCGGGAGGCGTAGTGGCTGGGTGCTGAGTCACGGTCCCAGGATATGGCTCCCCTCGGAGCTGACTCACTCCGAGCTGAGCTGGGCTGGCCTCTGGGGCTGGGCTGTCTGTTTGGGGATTTCTCAAGAAGCCAGGAGGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGTCGGCTTACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAATTAGCCGGGCGTGGAGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGATAATTGCTTGAACCAAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAGCCTGAGTAGGGGTGAGGTGGGAACAGGAGGGTGCAGCAGGTGTCAGCTGGCTTCACCACTGGAGCCCTCAGAGGAAAGAGGAAAAAGCGGCTCCTCTCCTTCCCCAAGCAGGGTCTCCCAGGGGTCTGGTTGGGAGATGTTAGCTGGGCTCTGGGTCTTCTCGGGTGGGGTGCCTGGGGGAGGGCAGGGAAGCTGGGTCTGGAGGCCCCTGAGTGGCTGTCCTCACCTGCCCTGTCCTTCTGCAGGACTGCCCCATTGCCTGGGCCAACCTCATGCTGTTTGACTACAAGGACCAGCTTAAGACCGGGGAACGCTGCCTCTACATGTGGCCCTCCGTCCCAGGTCGGCCCAGGCCCAGGAGGGAGAGGCGTTGGGAGTGTGAGGGTCCCAGAGATGCTGGTCACCCCTCTACAACTTCATCTGCCCCTGTGTTCAGATGAGAAGGGCGAGCTGCTGAACCCCACGGGCACTGTGCGCAGTAACCCCAACACGGATAGCGCCGCTGCCCTGCTCATCTGCCTGCCCGAGGTGGCCCCGCACCCCGTGTACTACCCCGCCCTGGAGAAGGTCAGTGGGGGCCCCGCCGCGTGAGGCTGAGGGGCTGGCGCGGAGCTCTCCTGGCCCTGCTCCTGGAGCTCTTCAGAGGGTGCTCCCTGGCCACGTCGGGGCTGGGCTACCAGGCATATCTGGGGCCTTCCCAGGGGCCATTTTGCCTGCAGGGATGCTGCGCAGTCTGATGACATTTTCGGTTGTCACAGCTGCCAGGAGGGATGCTCTTGGCATCTCGTGAGTGGAGGCCAGAGCTGCTGTGGATGCGCCTCCATGCAGAGGACAGCGCCCCCTCAAGGATGATTGGGGTGGCAATGCCCGGCCTGGGGGTCCTGCCCGGGCTGGTCCAGGCCCCTGGGGACGCTGAGTGCAGCCGTTTGTTGCAGATCTTGGAGCTGGGGCGACACAGCGAGTGTGTGCATGTCACCGAGGAGGAGGTGAGTGGGGTGGGGGTGTGGGGTGGGGGGCATGGAGCCGGCGTGGAACCAGAGCCCTCACTCCTGCCCACACCCCTCAGCAGCTGCAGCTGCGGGAAATCCTGGAGCGGCGGGGGTCTGGGGAGCTGTATGAGCACGAGAAGGACCTGGTGTGGAAGCTGCGGCATGAAGTCCAGGAGCACTTCCCGGAGGCGCTAGCCCGGCTGCTGCTGGTCACCAAGTGGAACAAGCATGAGGATGTGGCCCAGGTGGGTGGGGAGGCGCACCTGGGGGCGGAGCTGGGGGCAGACCACAGCCTCTGGCTACCCACCACCCTGACCCCGGCCAACCCCCACCCTCACCCTGGCCAACCTTCACCCTGACCCTGGCCACCCACCACCCTGACCCTGGCTGGCCATCACCCTTACCCTGACCACCTCCACCCTGACCCCGGCCGCCCCCAAGCCTGACCTCGGCTCCCCCCAGATGCTCTACCTGCTGTGCTCCTGGCCGGAGCTGCCCGTCCTGAGCGCCCTGGAGCTGCTAGACTTCAGCTTCCCCGATTGCCACGTAGGCTCCTTCGCCATCAAGTCGCTGCGGAAACTGACGTGAGTCCCAGCTGGGCGCTCCCCACTTCTCCAGAGGGCAGCTGTGTCCTGGCTGCCAGGACGTGGGCTCTGGGTGGGGCCTGAACCTTCCCGTGGGCTTGCTCCCTCCTGCCTGGCCTCCCTCTGGCTGCCGAGGGAGCTCCCTCCTGTCCTGAGTCGGGGAGCTCCAGGCCCCAGCGCCTTCCTTCCCTGCAGGGACGATGAGCTGTTCCAGTACCTGCTGCAGCTGGTGCAGGTGCTCAAGTACGAGTCCTACCTGGACTGCGAGCTGACCAAATTCCTGCTGGACCGGGCCCTGGCCAACCGCAAGATCGGCCACTTCCTTTTCTGGCACCTCCGGTAGCGGGACTTGCCCCAGCCGTTCTGTGGGAATCCCAGCCCCTGAGTCTCCCTGGAAGGCCACTGGGGACGTTTCCAGCAGGCCTGGGTGTCCTGGCCTCGCTAGGTCCTGCTGGGCGGGAGGGGCTGCGTGGTGCTGCCTGGTGAGGCTCAGCCCTCCCTTCACCTTCCAGCTCCGAGATGCACGTGCCGTCGGTGGCCCTGCGCTTCGGCCTCATCCTGGAGGCCTACTGCAGGGGCAGCACCCACCACATGAAGGTGCTGATGAAGCAGGTGAGGCCCAAGGCCCTGGGGGGCGGGCAGGGGGCGGCCCTGAGCGTCTGGGAATCCCCAGGGCTGGGTCGAGGCTGGGACCTGCCCACCGCCGCCCTCCCATCTGCCCAC
GAGGTTATGGGGCCAGGTTCAGCCCAGGGATCCGGGACCGCAGAGCTGGGGGAAGGGCCGGGCATGGAAGAGGGGCTGGGTCCAGCTGGGCTGGGGGCTGTGGTGCTCCCTGGAGGCACCAGGGCGGTGCCTGCAGCCTGTGAGGGCTGCACCTGCCTCAACCTCTAGGGGCTGAGCCCACCTCCCTGTTGTCTCTTAACACTTTCACACGCTCCATCGCAACAGCCTGCAGTCATGGGCTTTATTGTCCTGTTTGCTGGACATGATACCTGAGTCCTCAGAGGTTGGCCCTCCTGCCTGGAGTGTGTTTCACTGGGGAAATCGTATAAGCAGGGCAGGTCTGGGTTCCACTGGCAGGAATCGAGGGGGACTGGATCAGAGGGACTTCCAGGGTGGTGGTGTCAGGTGGAATTGGAAGGGGCCGGACATCAGGTGGCAGGAAAAGTCCTTCCCCACCCACATGGGCTCATAGGAATCTGAGAAGTCCAGGGAGCCCTAGGATGTTAGAGCAAGGGTCCCTGAAGTTCTTGATCCCTGATGGGGAAACTGAGGCCTGGAGTGGGGAATGGACATGCCCCGAGGTCCCCAGAGTTGGGGTAGCTGAGACAGGGCACCCATGCACAGCCCGTGGTACCCTCCCTCACCCCAGGGCCGCTCATGCCCCTCAGGCCTTCCCTGTGCTGCACCACCTTCCTTCGTGTGGGAAGTAGAGTTCAGACCCACCTGAGGACATTCAAGGGGGAGACTGACACCTTAAGGGGGAGGGGAGAGGGGCTGGGCCTCTGCCTCCTCACCCATCATCCCGGCACCTTCTACAGCTGGTGGTGCAGGCCGGGCTTTTCCACGGCAACGAGATGCTGTGCAAGACGGTGTCCAGCTCGGAGGTGAGCGTGTGCTCGGAGCCCGTGTGGAAGCAGCGGCTGGAGTTCGACATCAACATCTGCGACCTGCCCCGCATGGCCCGTCTCTGCTTTGCGCTGTACGCCGTGATCGAGAAAGCCAAGAAGGCTCGCTCCACCAAGAAGAAGTCCAAGAAGGCGGTGGGTCCCAGGGCCGGCTGGGAGGGGTGCAGACCCCGGAGAGCCAGTACAGCCCCTTGCTGGGCCACTCACCACTCTCCTCCCGGCAAGCACGCAGCCTGGGGATGGGGGTCCTGGGATTGCTTGTGGACCCCAGCCTCCTCACCCACCCTAGTCTGGCCACCAGCCCTGCTCGAGGGACACTCTGGGCTCCTGGGCTCCTGTGCATGCGGCCTCAGAATATCTGGCCTGGGCTGTGGTCCTGCAGGAACCTGCAGGTAGTGCCCTGGGATGGAAGGACAAGCACAGTGTCATCCCTGGAGCAGAAAAGCCTGAGTCAGCGGCTGGCCGGGAGGCGTAGTGGCTGGGTGCTGAGTCACGGTCCCAGGATATGGCTCCCCTCGGAGCTGACTCACTCCGAGCTGAGCTGGGCTGGCCTCTGGGGCTGGGCTGTCTGTTTGGGGATTTCTCAAGAAGCCAGGAGGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGTCGGCTTACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAATTAGCCGGGCGTGGAGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGATAATTGCTTGAACCAAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAGCCTGAGTAGGGGTGAGGTGGGAACAGGAGGGTGCAGCAGGTGTCAGCTGGCTTCACCACTGGAGCCCTCAGAGGAAAGAGGAAAAAGCGGCTCCTCTCCTTCCCCAAGCAGGGTCTCCCAGGGGTCTGGTTGGGAGATGTTAGCTGGGCTCTGGGTCTTCTCGGGTGGGGTGCCTGGGGGAGGGCAGGGAAGCTGGGTCTGGAGGCCCCTGAGTGGCTGTCCTCACCTGCCCTGTCCTTCTGCAGGACCGCCCCATTGCCTGGGCCAACCTCATGCTGTTTGACTACAAGGACCAGCTTAAGACCGGGGAACGCTGCCTCTACATGTGGCCCTCCGTCCCAGGTCGGCCCAGGCCCAGGAGGGAGAGGCGTTGGGAGTGTGAGGGTCCCAGAGATGCTGGTCACCCCTCTACAACTTCATCTGCCCCTGTGTTCAGATGAGAAGGGCGAGCTGCTGAACCCCACGGGCACTGTGCGCAGTAACCCCAACACGGATAGCGCCGCTGCCCTGCTCATCTGCCTGCCCGAGGTGGCCCCGCACCCCGTGTACTACCCCGCCCTGGAGAAGGTCAGTGGGGGCCCCGCCGCGTGAGGCTGAGGGGCTGGCGCGGAGCTCTCCTGGCCCTGCTCCTGGAGCTCTTCAGAGGGTGCTCCCTGGCCACGTCGGGGCTGGGCTACCAGGCATATCTGGGGCCTTCCCAGGGGCCATTTTGCCTGCAGGGATGCTGCGCAGTCTGATGACATTTTCGGTTGTCACAGCTGCCAGGAGGGATGCTCTTGGCATCTCGTGAGTGGAGGCCAGAGCTGCTGTGGATGCGCCTCCATGCAGAGGACAGCGCCCCCTCAAGGATGATTGGGGTGGCAATGCCCGGCCTGGGGGTCCTGCCCGGGCTGGTCCAGGCCCCTGGGGACGCTGAGTGCAGCCGTTTGTTGCAGATCTTGGAGCTGGGGCGACACAGCGAGTGTGTGCATGTCACCGAGGAGGAGGTGAGTGGGGTGGGGGTGTGGGGTGGGGGGCATGGAGCCGGCGTGGAACCAGAGCCCTCACTCCTGCCCACACCCCTCAGCAGCTGCAGCTGCGGGAAATCCTGGAGCGGCGGGGGTCTGGGGAGCTGTATGAGCACGAGAAGGACCTGGTGTGGAAGCTGCGGCATGAAGTCCAGGAGCACTTCCCGGAGGCGCTAGCCCGGCTGCTGCTGGTCACCAAGTGGAACAAGCATGAGGATGTGGCCCAGGTGGGTGGGGAGGCGCACCTGGGGGCGGAGCTGGGGGCAGACCACAGCCTCTGGCTACCCACCACCCTGACCCCGGCCAACCCCCACCCTCACCCTGGCCAACCTTCACCCTGACCCTGGCCACCCACCACCCTGACCCTGGCTGGCCATCACCCTTACCCTGACCACCTCCACCCTGACCCCGGCCGCCCCCAAGCCTGACCTCGGCTCCCCCCAGATGCTCTACCTGCTGTGCTCCTGGCCGGAGCTGCCCGTCCTGAGCGCCCTGGAGCTGCTAGACTTCAGCTTCCCCGATTGCCACGTAGGCTCCTTCGCCATCAAGTCGCTGCGGAAACTGACGTGAGTCCCAGCTGGGCGCTCCCCACTTCTCCAGAGGGCAGCTGTGTCCTGGCTGCCAGGACGTGGGCTCTGGGTGGGGCCTGAACCTTCCCGTGGGCTTGCTCCCTCCTGCCTGGCCTCCCTCTGGCTGCCGAGGGAGCTCCCTCCTGTCCTGAGTCGGGGAGCTCCAGGCCCCAGCGCCTTCCTTCCCTGCAGGGACGATGAGCTGTTCCAGTACCTGCTGCAGCTGGTGCAGGTGCTCAAGTACGAGTCCTACCTGGACTGCGAGCTGACCAAATTCCTGCTGGACCGGGCCCTGGCCAACCGCAAGATCGGCCACTTCCTTTTCTGGCACCTCCGGTAGCGGGACTTGCCCCAGCCGTTCTGTGGGAATCCCAGCCCCTGAGTCTCCCTGGAAGGCCACTGGGGACGTTTCCAGCAGGCCTGGGTGTCCTGGCCTCGCTAGGTCCTGCTGGGCGGGAGGGGCTGCGTGGTGCTGCCTGGTGAGGCTCAGCCCTCCCTTCACCTTCCAGCTCCGAGATGCACGTGCCGTCGGTGGCCCTGCGCTTCGGCCTCATCCTGGAGGCCTACTGCAGGGGCAGCACCCACCACATGAAGGTGCTGATGAAGCAGGTGAGGCCCAAGGCCCTGGGGGGCGGGCAGGGGGCGGCCCTGAGCGTCTGGGAATCCCCAGGGCTGGGTCGAGGCTGGGACCTGCCCACCGCCGCCCTCCCATCTGCCCAC
Task1_train_99
Given this context: Chromosome 1, gene PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Immunodeficiency 14
ACGGTGTCCAGCTCGGAGGTGAGCGTGTGCTCGGAGCCCGTGTGGAAGCAGCGGCTGGAGTTCGACATCAACATCTGCGACCTGCCCCGCATGGCCCGTCTCTGCTTTGCGCTGTACGCCGTGATCGAGAAAGCCAAGAAGGCTCGCTCCACCAAGAAGAAGTCCAAGAAGGCGGTGGGTCCCAGGGCCGGCTGGGAGGGGTGCAGACCCCGGAGAGCCAGTACAGCCCCTTGCTGGGCCACTCACCACTCTCCTCCCGGCAAGCACGCAGCCTGGGGATGGGGGTCCTGGGATTGCTTGTGGACCCCAGCCTCCTCACCCACCCTAGTCTGGCCACCAGCCCTGCTCGAGGGACACTCTGGGCTCCTGGGCTCCTGTGCATGCGGCCTCAGAATATCTGGCCTGGGCTGTGGTCCTGCAGGAACCTGCAGGTAGTGCCCTGGGATGGAAGGACAAGCACAGTGTCATCCCTGGAGCAGAAAAGCCTGAGTCAGCGGCTGGCCGGGAGGCGTAGTGGCTGGGTGCTGAGTCACGGTCCCAGGATATGGCTCCCCTCGGAGCTGACTCACTCCGAGCTGAGCTGGGCTGGCCTCTGGGGCTGGGCTGTCTGTTTGGGGATTTCTCAAGAAGCCAGGAGGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGTCGGCTTACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAATTAGCCGGGCGTGGAGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGATAATTGCTTGAACCAAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAGCCTGAGTAGGGGTGAGGTGGGAACAGGAGGGTGCAGCAGGTGTCAGCTGGCTTCACCACTGGAGCCCTCAGAGGAAAGAGGAAAAAGCGGCTCCTCTCCTTCCCCAAGCAGGGTCTCCCAGGGGTCTGGTTGGGAGATGTTAGCTGGGCTCTGGGTCTTCTCGGGTGGGGTGCCTGGGGGAGGGCAGGGAAGCTGGGTCTGGAGGCCCCTGAGTGGCTGTCCTCACCTGCCCTGTCCTTCTGCAGGACTGCCCCATTGCCTGGGCCAACCTCATGCTGTTTGACTACAAGGACCAGCTTAAGACCGGGGAACGCTGCCTCTACATGTGGCCCTCCGTCCCAGGTCGGCCCAGGCCCAGGAGGGAGAGGCGTTGGGAGTGTGAGGGTCCCAGAGATGCTGGTCACCCCTCTACAACTTCATCTGCCCCTGTGTTCAGATGAGAAGGGCGAGCTGCTGAACCCCACGGGCACTGTGCGCAGTAACCCCAACACGGATAGCGCCGCTGCCCTGCTCATCTGCCTGCCCGAGGTGGCCCCGCACCCCGTGTACTACCCCGCCCTGGAGAAGGTCAGTGGGGGCCCCGCCGCGTGAGGCTGAGGGGCTGGCGCGGAGCTCTCCTGGCCCTGCTCCTGGAGCTCTTCAGAGGGTGCTCCCTGGCCACGTCGGGGCTGGGCTACCAGGCATATCTGGGGCCTTCCCAGGGGCCATTTTGCCTGCAGGGATGCTGCGCAGTCTGATGACATTTTCGGTTGTCACAGCTGCCAGGAGGGATGCTCTTGGCATCTCGTGAGTGGAGGCCAGAGCTGCTGTGGATGCGCCTCCATGCAGAGGACAGCGCCCCCTCAAGGATGATTGGGGTGGCAATGCCCGGCCTGGGGGTCCTGCCCGGGCTGGTCCAGGCCCCTGGGGACGCTGAGTGCAGCCGTTTGTTGCAGATCTTGGAGCTGGGGCGACACAGCGAGTGTGTGCATGTCACCGAGGAGGAGGTGAGTGGGGTGGGGGTGTGGGGTGGGGGGCATGGAGCCGGCGTGGAACCAGAGCCCTCACTCCTGCCCACACCCCTCAGCAGCTGCAGCTGCGGGAAATCCTGGAGCGGCGGGGGTCTGGGGAGCTGTATGAGCACGAGAAGGACCTGGTGTGGAAGCTGCGGCATGAAGTCCAGGAGCACTTCCCGGAGGCGCTAGCCCGGCTGCTGCTGGTCACCAAGTGGAACAAGCATGAGGATGTGGCCCAGGTGGGTGGGGAGGCGCACCTGGGGGCGGAGCTGGGGGCAGACCACAGCCTCTGGCTACCCACCACCCTGACCCCGGCCAACCCCCACCCTCACCCTGGCCAACCTTCACCCTGACCCTGGCCACCCACCACCCTGACCCTGGCTGGCCATCACCCTTACCCTGACCACCTCCACCCTGACCCCGGCCGCCCCCAAGCCTGACCTCGGCTCCCCCCAGATGCTCTACCTGCTGTGCTCCTGGCCGGAGCTGCCCGTCCTGAGCGCCCTGGAGCTGCTAGACTTCAGCTTCCCCGATTGCCACGTAGGCTCCTTCGCCATCAAGTCGCTGCGGAAACTGACGTGAGTCCCAGCTGGGCGCTCCCCACTTCTCCAGAGGGCAGCTGTGTCCTGGCTGCCAGGACGTGGGCTCTGGGTGGGGCCTGAACCTTCCCGTGGGCTTGCTCCCTCCTGCCTGGCCTCCCTCTGGCTGCCGAGGGAGCTCCCTCCTGTCCTGAGTCGGGGAGCTCCAGGCCCCAGCGCCTTCCTTCCCTGCAGGGACGATGAGCTGTTCCAGTACCTGCTGCAGCTGGTGCAGGTGCTCAAGTACGAGTCCTACCTGGACTGCGAGCTGACCAAATTCCTGCTGGACCGGGCCCTGGCCAACCGCAAGATCGGCCACTTCCTTTTCTGGCACCTCCGGTAGCGGGACTTGCCCCAGCCGTTCTGTGGGAATCCCAGCCCCTGAGTCTCCCTGGAAGGCCACTGGGGACGTTTCCAGCAGGCCTGGGTGTCCTGGCCTCGCTAGGTCCTGCTGGGCGGGAGGGGCTGCGTGGTGCTGCCTGGTGAGGCTCAGCCCTCCCTTCACCTTCCAGCTCCGAGATGCACGTGCCGTCGGTGGCCCTGCGCTTCGGCCTCATCCTGGAGGCCTACTGCAGGGGCAGCACCCACCACATGAAGGTGCTGATGAAGCAGGTGAGGCCCAAGGCCCTGGGGGGCGGGCAGGGGGCGGCCCTGAGCGTCTGGGAATCCCCAGGGCTGGGTCGAGGCTGGGACCTGCCCACCGCCGCCCTCCCATCTGCCCACCAGGGGGAAGCACTGAGCAAACTGAAGGCCCTGAATGACTTCGTCAAGCTGAGCTCTCAGAAGACCCCCAAGCCCCAGACCAAGGAGCTGATGCACTTGTGCATGCGGCAGGAGGCCTACCTAGAGGCCCTCTCCCACCTGCAGTCCCCACTCGACCCCAGCACCCTGCTGGCTGAAGTCTGGTGAGCCCAAGCCCCGCCACAAGGGTTCCTCCCACCCCTGGGAGGCCGGTAGAGGAGCCCCTGCTGACTGCCCGCTCTCTGGCCTGGCAGCGTGGAGCAGTGCACCTTCATGGACTCCAAGATGAAGCCCCTGTGGATCATGTACAGCAACGAGGAGGCAGGCAGCGGCGGCAGCGTGGGCATCATCTTTAAGAACGGGGATGGTGAGGGCCTGGCCTCCCCACACCCCGCCTGTACTGCCCTGGGGGGTCCTGGGGTGCTCCTAGAGTGGGGGTGGAGAAGACAGAATCCTGGGACTTAAGGGCTTGGGTGTAGCTGGAAGCAGAGAACCTACCAGAAACTCACGCTTCTCCTCCCACCGGCCGGTGGCACAGACCTCCGGCAGGACATGCTGACCCTGCAGATGATCCAGCTCATGGACGTCCTGTGGAAGCAGGAGGGGCTGGACCTGAGGTGAGGACCCCCACCCCACATCGTCCCTTGGTGTCTGTGCCCAGCCTGGGAGTCTGTGCCCCTGGAGGGGTCCTTGTTGAAGGTGGCATGACCATCTCAGCCGGGGAAAGGGCTTTCCTAGGAAGACCCGGAGGCGGTTTAACTCTAGGCCAGGAGGCGGCGGGCAGCAGGATGCGTGAAGGCTGCTCCTGAGGCTTAGTGTGTACCCTGCTCTGTTGCTTTAGTTGCCCA
ACGGTGTCCAGCTCGGAGGTGAGCGTGTGCTCGGAGCCCGTGTGGAAGCAGCGGCTGGAGTTCGACATCAACATCTGCGACCTGCCCCGCATGGCCCGTCTCTGCTTTGCGCTGTACGCCGTGATCGAGAAAGCCAAGAAGGCTCGCTCCACCAAGAAGAAGTCCAAGAAGGCGGTGGGTCCCAGGGCCGGCTGGGAGGGGTGCAGACCCCGGAGAGCCAGTACAGCCCCTTGCTGGGCCACTCACCACTCTCCTCCCGGCAAGCACGCAGCCTGGGGATGGGGGTCCTGGGATTGCTTGTGGACCCCAGCCTCCTCACCCACCCTAGTCTGGCCACCAGCCCTGCTCGAGGGACACTCTGGGCTCCTGGGCTCCTGTGCATGCGGCCTCAGAATATCTGGCCTGGGCTGTGGTCCTGCAGGAACCTGCAGGTAGTGCCCTGGGATGGAAGGACAAGCACAGTGTCATCCCTGGAGCAGAAAAGCCTGAGTCAGCGGCTGGCCGGGAGGCGTAGTGGCTGGGTGCTGAGTCACGGTCCCAGGATATGGCTCCCCTCGGAGCTGACTCACTCCGAGCTGAGCTGGGCTGGCCTCTGGGGCTGGGCTGTCTGTTTGGGGATTTCTCAAGAAGCCAGGAGGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGTCGGCTTACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAAATTAGCCGGGCGTGGAGGCACATGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGATAATTGCTTGAACCAAGGAGGCAGAGGTTGCAATGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAGCCTGAGTAGGGGTGAGGTGGGAACAGGAGGGTGCAGCAGGTGTCAGCTGGCTTCACCACTGGAGCCCTCAGAGGAAAGAGGAAAAAGCGGCTCCTCTCCTTCCCCAAGCAGGGTCTCCCAGGGGTCTGGTTGGGAGATGTTAGCTGGGCTCTGGGTCTTCTCGGGTGGGGTGCCTGGGGGAGGGCAGGGAAGCTGGGTCTGGAGGCCCCTGAGTGGCTGTCCTCACCTGCCCTGTCCTTCTGCAGGACTGCCCCATTGCCTGGGCCAACCTCATGCTGTTTGACTACAAGGACCAGCTTAAGACCGGGGAACGCTGCCTCTACATGTGGCCCTCCGTCCCAGGTCGGCCCAGGCCCAGGAGGGAGAGGCGTTGGGAGTGTGAGGGTCCCAGAGATGCTGGTCACCCCTCTACAACTTCATCTGCCCCTGTGTTCAGATGAGAAGGGCGAGCTGCTGAACCCCACGGGCACTGTGCGCAGTAACCCCAACACGGATAGCGCCGCTGCCCTGCTCATCTGCCTGCCCGAGGTGGCCCCGCACCCCGTGTACTACCCCGCCCTGGAGAAGGTCAGTGGGGGCCCCGCCGCGTGAGGCTGAGGGGCTGGCGCGGAGCTCTCCTGGCCCTGCTCCTGGAGCTCTTCAGAGGGTGCTCCCTGGCCACGTCGGGGCTGGGCTACCAGGCATATCTGGGGCCTTCCCAGGGGCCATTTTGCCTGCAGGGATGCTGCGCAGTCTGATGACATTTTCGGTTGTCACAGCTGCCAGGAGGGATGCTCTTGGCATCTCGTGAGTGGAGGCCAGAGCTGCTGTGGATGCGCCTCCATGCAGAGGACAGCGCCCCCTCAAGGATGATTGGGGTGGCAATGCCCGGCCTGGGGGTCCTGCCCGGGCTGGTCCAGGCCCCTGGGGACGCTGAGTGCAGCCGTTTGTTGCAGATCTTGGAGCTGGGGCGACACAGCGAGTGTGTGCATGTCACCGAGGAGGAGGTGAGTGGGGTGGGGGTGTGGGGTGGGGGGCATGGAGCCGGCGTGGAACCAGAGCCCTCACTCCTGCCCACACCCCTCAGCAGCTGCAGCTGCGGGAAATCCTGGAGCGGCGGGGGTCTGGGGAGCTGAATGAGCACGAGAAGGACCTGGTGTGGAAGCTGCGGCATGAAGTCCAGGAGCACTTCCCGGAGGCGCTAGCCCGGCTGCTGCTGGTCACCAAGTGGAACAAGCATGAGGATGTGGCCCAGGTGGGTGGGGAGGCGCACCTGGGGGCGGAGCTGGGGGCAGACCACAGCCTCTGGCTACCCACCACCCTGACCCCGGCCAACCCCCACCCTCACCCTGGCCAACCTTCACCCTGACCCTGGCCACCCACCACCCTGACCCTGGCTGGCCATCACCCTTACCCTGACCACCTCCACCCTGACCCCGGCCGCCCCCAAGCCTGACCTCGGCTCCCCCCAGATGCTCTACCTGCTGTGCTCCTGGCCGGAGCTGCCCGTCCTGAGCGCCCTGGAGCTGCTAGACTTCAGCTTCCCCGATTGCCACGTAGGCTCCTTCGCCATCAAGTCGCTGCGGAAACTGACGTGAGTCCCAGCTGGGCGCTCCCCACTTCTCCAGAGGGCAGCTGTGTCCTGGCTGCCAGGACGTGGGCTCTGGGTGGGGCCTGAACCTTCCCGTGGGCTTGCTCCCTCCTGCCTGGCCTCCCTCTGGCTGCCGAGGGAGCTCCCTCCTGTCCTGAGTCGGGGAGCTCCAGGCCCCAGCGCCTTCCTTCCCTGCAGGGACGATGAGCTGTTCCAGTACCTGCTGCAGCTGGTGCAGGTGCTCAAGTACGAGTCCTACCTGGACTGCGAGCTGACCAAATTCCTGCTGGACCGGGCCCTGGCCAACCGCAAGATCGGCCACTTCCTTTTCTGGCACCTCCGGTAGCGGGACTTGCCCCAGCCGTTCTGTGGGAATCCCAGCCCCTGAGTCTCCCTGGAAGGCCACTGGGGACGTTTCCAGCAGGCCTGGGTGTCCTGGCCTCGCTAGGTCCTGCTGGGCGGGAGGGGCTGCGTGGTGCTGCCTGGTGAGGCTCAGCCCTCCCTTCACCTTCCAGCTCCGAGATGCACGTGCCGTCGGTGGCCCTGCGCTTCGGCCTCATCCTGGAGGCCTACTGCAGGGGCAGCACCCACCACATGAAGGTGCTGATGAAGCAGGTGAGGCCCAAGGCCCTGGGGGGCGGGCAGGGGGCGGCCCTGAGCGTCTGGGAATCCCCAGGGCTGGGTCGAGGCTGGGACCTGCCCACCGCCGCCCTCCCATCTGCCCACCAGGGGGAAGCACTGAGCAAACTGAAGGCCCTGAATGACTTCGTCAAGCTGAGCTCTCAGAAGACCCCCAAGCCCCAGACCAAGGAGCTGATGCACTTGTGCATGCGGCAGGAGGCCTACCTAGAGGCCCTCTCCCACCTGCAGTCCCCACTCGACCCCAGCACCCTGCTGGCTGAAGTCTGGTGAGCCCAAGCCCCGCCACAAGGGTTCCTCCCACCCCTGGGAGGCCGGTAGAGGAGCCCCTGCTGACTGCCCGCTCTCTGGCCTGGCAGCGTGGAGCAGTGCACCTTCATGGACTCCAAGATGAAGCCCCTGTGGATCATGTACAGCAACGAGGAGGCAGGCAGCGGCGGCAGCGTGGGCATCATCTTTAAGAACGGGGATGGTGAGGGCCTGGCCTCCCCACACCCCGCCTGTACTGCCCTGGGGGGTCCTGGGGTGCTCCTAGAGTGGGGGTGGAGAAGACAGAATCCTGGGACTTAAGGGCTTGGGTGTAGCTGGAAGCAGAGAACCTACCAGAAACTCACGCTTCTCCTCCCACCGGCCGGTGGCACAGACCTCCGGCAGGACATGCTGACCCTGCAGATGATCCAGCTCATGGACGTCCTGTGGAAGCAGGAGGGGCTGGACCTGAGGTGAGGACCCCCACCCCACATCGTCCCTTGGTGTCTGTGCCCAGCCTGGGAGTCTGTGCCCCTGGAGGGGTCCTTGTTGAAGGTGGCATGACCATCTCAGCCGGGGAAAGGGCTTTCCTAGGAAGACCCGGAGGCGGTTTAACTCTAGGCCAGGAGGCGGCGGGCAGCAGGATGCGTGAAGGCTGCTCCTGAGGCTTAGTGTGTACCCTGCTCTGTTGCTTTAGTTGCCCA