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_1600
Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Gaucher disease type I
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
Task1_train_1601
The following genetic variant occurs in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Gaucher disease type II
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
Task1_train_1602
A variant was discovered in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Gaucher disease type III
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
Task1_train_1603
This genomic variant is located on Chromosome 1, within the GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Lewy body dementia
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
Task1_train_1604
A change on Chromosome 1 affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Parkinson disease, late-onset
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
Task1_train_1605
Here is a variant affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Gaucher disease perinatal lethal
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
Task1_train_1606
This alteration occurs within gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; not specified
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
Task1_train_1607
Chromosome 1 houses a mutation in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Lewy body dementia
GGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCA
GGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGAGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCA
Task1_train_1608
A variant affecting Chromosome 1, within the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Gaucher disease type II
GGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCA
GGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGCGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCA
Task1_train_1609
A mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Gaucher disease
ATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTG
ATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAATCGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTG
Task1_train_1610
Here is a variant affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Gaucher disease type I
ATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGA
ATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGAGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGA
Task1_train_1611
Located on Chromosome 1, this mutation impacts GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Gaucher disease
CCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGA
CCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTTGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGA
Task1_train_1612
A variant was discovered in gene LOC106627981, GBA1 (GBA recombination region| glucosylceramidase beta 1), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Gaucher disease perinatal lethal
ATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGC
ATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGAAAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGC
Task1_train_1613
A mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Parkinson disease, late-onset
CTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGA
CTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCTATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGA
Task1_train_1614
This variant affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Gaucher disease perinatal lethal
TGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCA
TGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGAGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCA
Task1_train_1615
A genetic alteration is present in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Gaucher disease type I
CCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGA
CCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGACGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGA
Task1_train_1616
Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
Task1_train_1617
Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Gaucher disease type I
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
Task1_train_1618
This is a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1. Is this mutation a likely cause of disease or not?
Pathogenic; Gaucher disease type II
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
Task1_train_1619
This sequence variant lies in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Gaucher disease type III
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
Task1_train_1620
The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Gaucher disease perinatal lethal
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
Task1_train_1621
A variant affecting Chromosome 1, within the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
Task1_train_1622
A change on Chromosome 1 affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Gaucher disease type I
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
Task1_train_1623
Chromosome 1 houses a mutation in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Gaucher disease type II
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
Task1_train_1624
Here’s a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Gaucher disease type III
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
Task1_train_1625
Consider this mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this a benign change or a disease-causing variant?
Pathogenic; Gaucher disease type III
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCCCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
Task1_train_1626
Consider a variant on Chromosome 1 in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Determine its clinical classification and disease relevance.
Pathogenic; Gaucher disease type II
AGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCC
AGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACCGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCC
Task1_train_1627
The variant affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Gaucher disease type I
ATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTT
ATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTAACAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTT
Task1_train_1628
Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; not specified
CCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCC
CCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAACAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCC
Task1_train_1629
A mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Gaucher disease type I
TTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACG
TTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGAGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACG
Task1_train_1630
Here is a mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Gaucher disease
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
Task1_train_1631
A genetic alteration is present in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; GBA1-related disorder
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
Task1_train_1632
Located on Chromosome 1, this mutation impacts GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Gaucher disease type I
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
Task1_train_1633
This sequence change occurs on Chromosome 1, altering GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
Task1_train_1634
Consider a variant on Chromosome 1 in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Determine its clinical classification and disease relevance.
Pathogenic; Gaucher disease type I
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
Task1_train_1635
Assess the clinical impact of this variant on gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Gaucher disease type II
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
Task1_train_1636
A variant was discovered in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Gaucher disease type III
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
Task1_train_1637
The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
Task1_train_1638
A genetic alteration is present in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Gaucher disease type I
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
Task1_train_1639
Located on Chromosome 1, this mutation impacts GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Gaucher disease type II
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
Task1_train_1640
Given a variant located on Chromosome 1 and affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Gaucher disease type III
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
Task1_train_1641
This alteration occurs within gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; Lewy body dementia
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
Task1_train_1642
This sequence change occurs on Chromosome 1, altering GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Parkinson disease, late-onset
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
Task1_train_1643
A variant has been detected on Chromosome 1 in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Gaucher disease perinatal lethal
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
Task1_train_1644
Assess the clinical impact of this variant on gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Parkinson disease, late-onset
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
Task1_train_1645
This is a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1. Is this mutation a likely cause of disease or not?
Pathogenic; Gaucher disease perinatal lethal
CCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAAT
CCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTTAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAAT
Task1_train_1646
With a mutation on Chromosome 1 in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Gaucher disease type I
TGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAG
TGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGACCCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAG
Task1_train_1647
Mutation context: Chromosome 1, Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; not provided
CTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGA
CTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACTCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGA
Task1_train_1648
This genomic variant is located on Chromosome 1, within the GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Gaucher disease
GGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTG
GGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCCCCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTG
Task1_train_1649
Given a variant located on Chromosome 1 and affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Gaucher disease type I
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
Task1_train_1650
The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Gaucher disease type II
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
Task1_train_1651
Assess the clinical impact of this variant on gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
Task1_train_1652
This gene mutation involves GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
Pathogenic; Gaucher disease type I
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
Task1_train_1653
Consider this mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this a benign change or a disease-causing variant?
Pathogenic; Gaucher disease type II
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
Task1_train_1654
Here is a variant affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Gaucher disease type III
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
Task1_train_1655
A genetic alteration is present in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
Task1_train_1656
Assess the clinical impact of this variant on gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Gaucher disease type I
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
Task1_train_1657
The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Gaucher disease type II
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
Task1_train_1658
This variant affects the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Gaucher disease type III
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
Task1_train_1659
The variant affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Lewy body dementia
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
Task1_train_1660
A variant was discovered on Chromosome 1, affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Parkinson disease, late-onset
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
Task1_train_1661
Located on Chromosome 1, this mutation impacts GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Gaucher disease perinatal lethal
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
Task1_train_1662
Here’s a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Gaucher disease
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
Task1_train_1663
The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Gaucher disease type I
TGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACT
TGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTTTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACT
Task1_train_1664
The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Gaucher disease
GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCAGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
Task1_train_1665
A mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Gaucher disease type I
GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCAGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
Task1_train_1666
The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Gaucher disease type II
GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCAGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
Task1_train_1667
Consider this mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this a benign change or a disease-causing variant?
Pathogenic; Gaucher disease type III
GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCAGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
Task1_train_1668
A genomic change on Chromosome 1 affects GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCAGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
Task1_train_1669
A mutation found in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Gaucher disease type I
AGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGA
AGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGATACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGA
Task1_train_1670
Here’s a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Gaucher disease
TTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGC
TTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCAGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGC
Task1_train_1671
A mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Gaucher disease
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
Task1_train_1672
This variant lies on Chromosome 1 and affects the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Parkinson disease, late-onset
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
Task1_train_1673
A variant was discovered in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Gaucher disease type I
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
Task1_train_1674
A genomic change on Chromosome 1 affects GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; See cases
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
Task1_train_1675
This variant affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Lewy body dementia
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
Task1_train_1676
A sequence alteration has been identified in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Lewy body dementia
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
Task1_train_1677
This variant affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
Task1_train_1678
Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Parkinson disease, late-onset
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
Task1_train_1679
The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Gaucher disease perinatal lethal
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
Task1_train_1680
This alteration occurs within gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; Gaucher disease type I
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
Task1_train_1681
Located on Chromosome 1, this mutation impacts GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Gaucher disease type II
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
Task1_train_1682
Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Gaucher disease type III
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
Task1_train_1683
The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Gaucher disease
GAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTG
GAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCTCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTG
Task1_train_1684
This variant impacts the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
Pathogenic; Gaucher disease type I
ACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGGCCTCATGAACCACATCAAATGAGATTTAGCGGGAGTGGCACACACAGTCATGACCTGACTAATC
ACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACAACACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGGCCTCATGAACCACATCAAATGAGATTTAGCGGGAGTGGCACACACAGTCATGACCTGACTAATC
Task1_train_1685
Mutation context: Chromosome 1, Gene PKLR (pyruvate kinase L/R). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Pyruvate kinase deficiency of red cells
CCAGGACCCTAAGTCTCCTTTCCTTCTGGGTGGGGAGTTCTGGGGTTCTTGGTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAA
CCAGGACCCTAAGTCTCCTTTCCTTCTGGGTGGGGAGTTCTGGGGTTCTTGGTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCAGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAA
Task1_train_1686
This gene mutation involves PKLR (pyruvate kinase L/R) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
Pathogenic; PKLR-related disorder
CCAGGACCCTAAGTCTCCTTTCCTTCTGGGTGGGGAGTTCTGGGGTTCTTGGTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAA
CCAGGACCCTAAGTCTCCTTTCCTTCTGGGTGGGGAGTTCTGGGGTTCTTGGTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCAGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAA
Task1_train_1687
This gene mutation involves PKLR (pyruvate kinase L/R) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
Pathogenic; Pyruvate kinase deficiency of red cells
TTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGG
TTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTTGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGG
Task1_train_1688
A variant affecting Chromosome 1, within the gene PKLR (pyruvate kinase L/R), has been observed. Determine if it's benign or associated with disease.
Pathogenic; not provided
ACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCA
ACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAACAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCA
Task1_train_1689
This sequence variant lies in PKLR (pyruvate kinase L/R) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Pyruvate kinase deficiency of red cells
CATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTT
CATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACTGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTT
Task1_train_1690
This variant affects the gene PKLR (pyruvate kinase L/R) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Pyruvate kinase deficiency of red cells
AGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCAC
AGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTTCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCAC
Task1_train_1691
An alteration has been detected in PKLR (pyruvate kinase L/R) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Pathogenic; not provided
GGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAA
GGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCATTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAA
Task1_train_1692
This mutation is located in gene PKLR (pyruvate kinase L/R) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; not provided
AACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGG
AACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGTCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGG
Task1_train_1693
Assess the clinical impact of this variant on gene PKLR (pyruvate kinase L/R), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; not provided
CCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACA
CCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGTAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACA
Task1_train_1694
A variant affecting Chromosome 1, within the gene PKLR (pyruvate kinase L/R), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Pyruvate kinase deficiency of red cells
AGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTC
AGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGGCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTC
Task1_train_1695
A variant found in Chromosome 1 affects PKLR (pyruvate kinase L/R). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; not provided
CAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCA
CAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCTGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCA
Task1_train_1696
This variant affects the gene PKLR (pyruvate kinase L/R) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Pyruvate kinase deficiency of red cells
GTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTATCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGCTGGCCAGGTTGGTCTTGAACTCTTGACCTCAGGTGATCCATCCACCTCGCCCTCCCAAAATGCTGGGATTACAGGTGTGAGTCACCGTGCCCAGCCATGTTTTCCTTTTTTACTGGATCATCCCCATCCGCAGGTAAACCTACTGTTATTTCTTTCATCATTAAAAAAAAATTCTCTTAATCTCCTGGTTTCCCCTCAGTCCCAGTATTTGCTCTCACTTGCAGCAAAACTCATCGCAAGAGTTATCTGTACTTGCTACCTCTAGTTCCCCTCCCCCATTCTCCCTTGAACCCACCCCACTCAGGCGTTGGCCTCCATCTCTCCACTGCATCTGTTCTTGTCAAGGTCACCAAGAACCTCTGTGTTTTTGCTCCATGTAATGCTCAATGCTCAGTCCTCCTCTATTGGCCCATCAGCAGCCTGAACATACATCCTTCTTTGACACACTGTCTTCACCTGACCTCCAGGGCTGCACCCTCTCTTGGTTGACTCCTACCTCACTAGCTGCTCTTTCCCAGTCTCCTTTCCTTGTTCCTCCCCTTAACGTTAGATACCCTGTTCTCTTCTCCGTCATTTCACCTACACTCCTTTGGTGGTCTCAACTAGTCTCATGGCTTGAGATACCATCTATATGTAGCCAACTCCCAAATGTCTCTCCAATCCAGACCTTTCTCCCAAACCCAGAGTTGTGTACCTGACTGCCCCCTCTATCACATTTGGATGGCTAATAAGCATCTCAGACTCAACATGTCCCAAGCAAACTTCTGCTCTCCCCCCAACCCCTTCCACCACAGTCTTTCCTGCTCAGTGGCTAATGCATCGTTCCAGTTCCTTATGGCAAAAACCTCAGAGTCACCTGTCACCTTTGACTCCTTTCTTTCTCGCCCACACTCCATACCCCATATCCGATCAATTAGCAAATCCTGTCAGCTCTACCTGCAAAATACATTCAGAATCTGACCACTTCTCACCACCTCACTGCCGCCAACTGGTCTGAGCCAGAAATACTGCAGGGGCACCCTTCCCCCCACCCCCCATCTATTTTCAGTGCAGC
GTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGTACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTATCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGCTGGCCAGGTTGGTCTTGAACTCTTGACCTCAGGTGATCCATCCACCTCGCCCTCCCAAAATGCTGGGATTACAGGTGTGAGTCACCGTGCCCAGCCATGTTTTCCTTTTTTACTGGATCATCCCCATCCGCAGGTAAACCTACTGTTATTTCTTTCATCATTAAAAAAAAATTCTCTTAATCTCCTGGTTTCCCCTCAGTCCCAGTATTTGCTCTCACTTGCAGCAAAACTCATCGCAAGAGTTATCTGTACTTGCTACCTCTAGTTCCCCTCCCCCATTCTCCCTTGAACCCACCCCACTCAGGCGTTGGCCTCCATCTCTCCACTGCATCTGTTCTTGTCAAGGTCACCAAGAACCTCTGTGTTTTTGCTCCATGTAATGCTCAATGCTCAGTCCTCCTCTATTGGCCCATCAGCAGCCTGAACATACATCCTTCTTTGACACACTGTCTTCACCTGACCTCCAGGGCTGCACCCTCTCTTGGTTGACTCCTACCTCACTAGCTGCTCTTTCCCAGTCTCCTTTCCTTGTTCCTCCCCTTAACGTTAGATACCCTGTTCTCTTCTCCGTCATTTCACCTACACTCCTTTGGTGGTCTCAACTAGTCTCATGGCTTGAGATACCATCTATATGTAGCCAACTCCCAAATGTCTCTCCAATCCAGACCTTTCTCCCAAACCCAGAGTTGTGTACCTGACTGCCCCCTCTATCACATTTGGATGGCTAATAAGCATCTCAGACTCAACATGTCCCAAGCAAACTTCTGCTCTCCCCCCAACCCCTTCCACCACAGTCTTTCCTGCTCAGTGGCTAATGCATCGTTCCAGTTCCTTATGGCAAAAACCTCAGAGTCACCTGTCACCTTTGACTCCTTTCTTTCTCGCCCACACTCCATACCCCATATCCGATCAATTAGCAAATCCTGTCAGCTCTACCTGCAAAATACATTCAGAATCTGACCACTTCTCACCACCTCACTGCCGCCAACTGGTCTGAGCCAGAAATACTGCAGGGGCACCCTTCCCCCCACCCCCCATCTATTTTCAGTGCAGC
Task1_train_1697
A sequence alteration has been identified in PKLR (pyruvate kinase L/R) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Pyruvate kinase deficiency of red cells
TCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTATCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGCTGGCCAGGTTGGTCTTGAACTCTTGACCTCAGGTGATCCATCCACCTCGCCCTCCCAAAATGCTGGGATTACAGGTGTGAGTCACCGTGCCCAGCCATGTTTTCCTTTTTTACTGGATCATCCCCATCCGCAGGTAAACCTACTGTTATTTCTTTCATCATTAAAAAAAAATTCTCTTAATCTCCTGGTTTCCCCTCAGTCCCAGTATTTGCTCTCACTTGCAGCAAAACTCATCGCAAGAGTTATCTGTACTTGCTACCTCTAGTTCCCCTCCCCCATTCTCCCTTGAACCCACCCCACTCAGGCGTTGGCCTCCATCTCTCCACTGCATCTGTTCTTGTCAAGGTCACCAAGAACCTCTGTGTTTTTGCTCCATGTAATGCTCAATGCTCAGTCCTCCTCTATTGGCCCATCAGCAGCCTGAACATACATCCTTCTTTGACACACTGTCTTCACCTGACCTCCAGGGCTGCACCCTCTCTTGGTTGACTCCTACCTCACTAGCTGCTCTTTCCCAGTCTCCTTTCCTTGTTCCTCCCCTTAACGTTAGATACCCTGTTCTCTTCTCCGTCATTTCACCTACACTCCTTTGGTGGTCTCAACTAGTCTCATGGCTTGAGATACCATCTATATGTAGCCAACTCCCAAATGTCTCTCCAATCCAGACCTTTCTCCCAAACCCAGAGTTGTGTACCTGACTGCCCCCTCTATCACATTTGGATGGCTAATAAGCATCTCAGACTCAACATGTCCCAAGCAAACTTCTGCTCTCCCCCCAACCCCTTCCACCACAGTCTTTCCTGCTCAGTGGCTAATGCATCGTTCCAGTTCCTTATGGCAAAAACCTCAGAGTCACCTGTCACCTTTGACTCCTTTCTTTCTCGCCCACACTCCATACCCCATATCCGATCAATTAGCAAATCCTGTCAGCTCTACCTGCAAAATACATTCAGAATCTGACCACTTCTCACCACCTCACTGCCGCCAACTGGTCTGAGCCAGAAATACTGCAGGGGCACCCTTCCCCCCACCCCCCATCTATTTTCAGTGCAGCAGCAGGGGAGGGGAGGCTCTATTAAAACATAAATAAGAGCTTGTCATTCCCCTGCTCAAAACCCTGCAGCAGTTTCTCATTTCACTCGGAGGAAAACGCAACTCAAATTCTAAAAATGGCCTACAAAGCTGCACCTGATCTTCCTGTCCGTACA
TCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCTGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTATCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGCTGGCCAGGTTGGTCTTGAACTCTTGACCTCAGGTGATCCATCCACCTCGCCCTCCCAAAATGCTGGGATTACAGGTGTGAGTCACCGTGCCCAGCCATGTTTTCCTTTTTTACTGGATCATCCCCATCCGCAGGTAAACCTACTGTTATTTCTTTCATCATTAAAAAAAAATTCTCTTAATCTCCTGGTTTCCCCTCAGTCCCAGTATTTGCTCTCACTTGCAGCAAAACTCATCGCAAGAGTTATCTGTACTTGCTACCTCTAGTTCCCCTCCCCCATTCTCCCTTGAACCCACCCCACTCAGGCGTTGGCCTCCATCTCTCCACTGCATCTGTTCTTGTCAAGGTCACCAAGAACCTCTGTGTTTTTGCTCCATGTAATGCTCAATGCTCAGTCCTCCTCTATTGGCCCATCAGCAGCCTGAACATACATCCTTCTTTGACACACTGTCTTCACCTGACCTCCAGGGCTGCACCCTCTCTTGGTTGACTCCTACCTCACTAGCTGCTCTTTCCCAGTCTCCTTTCCTTGTTCCTCCCCTTAACGTTAGATACCCTGTTCTCTTCTCCGTCATTTCACCTACACTCCTTTGGTGGTCTCAACTAGTCTCATGGCTTGAGATACCATCTATATGTAGCCAACTCCCAAATGTCTCTCCAATCCAGACCTTTCTCCCAAACCCAGAGTTGTGTACCTGACTGCCCCCTCTATCACATTTGGATGGCTAATAAGCATCTCAGACTCAACATGTCCCAAGCAAACTTCTGCTCTCCCCCCAACCCCTTCCACCACAGTCTTTCCTGCTCAGTGGCTAATGCATCGTTCCAGTTCCTTATGGCAAAAACCTCAGAGTCACCTGTCACCTTTGACTCCTTTCTTTCTCGCCCACACTCCATACCCCATATCCGATCAATTAGCAAATCCTGTCAGCTCTACCTGCAAAATACATTCAGAATCTGACCACTTCTCACCACCTCACTGCCGCCAACTGGTCTGAGCCAGAAATACTGCAGGGGCACCCTTCCCCCCACCCCCCATCTATTTTCAGTGCAGCAGCAGGGGAGGGGAGGCTCTATTAAAACATAAATAAGAGCTTGTCATTCCCCTGCTCAAAACCCTGCAGCAGTTTCTCATTTCACTCGGAGGAAAACGCAACTCAAATTCTAAAAATGGCCTACAAAGCTGCACCTGATCTTCCTGTCCGTACA
Task1_train_1698
This variant affects the gene PKLR (pyruvate kinase L/R) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Pyruvate kinase hyperactivity
ACGGGGTTTCACCATGTTGGCCAGGATGGTATCGATCTCTTGACCTCGTGATCAGTCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAAACACCACGCCTGGCCTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGGGTGCAATGGCACGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCGGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTTTTTTTTCTTTTTTTAAAAACAAACAAACAAACAAACAGAGTTTCGCTCTTGTTGCCCAAACTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAATCTCTGTCTCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCACATGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACAGAGTTTCACCACATTAGCCAGGCTGGTCTCGGACCCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCAAGAGCCACCATGCCCGGCCAACTTTCACTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTCTTTCTTTCTTGCCTGCTTGCTTTCTTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCTTTCTCTCTCTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTCTCTTTCTCTCTAGGGTCTCGTCTGTCACCTAGGCTGGAGTACAGTGGCTCGATCATGACTCACTGCAGCCGTGACCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACCACCACACTCAACTAAGTTTTGTATTTTTTGTAGAGATGGGTTTTGCCATTTACCCAGACTGGTCTCAAACTCCTGGGCTCAAGCGATCTGCCAACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCAGCCCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGATGGAGTTTTTCTCCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCGGCTCACCACAGTCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGCAGGCACGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTGGGCCTCCCAACATGCTGCGATTACAGGCATGAGCCACCATGCCCGGCCTCACTTTCTAACGGAATAAATAATTTACTTATTTTAAATAATTTATTGTGCTTACTATTTATTGTCATACTCAGCTAGACTGTCAGCTCCCCAAGGGTAGGGATTTTTGTCTGTTTTTTTCACTGATCTACTCCCAGGGCCCAAAATCTTGTCTACTATATGCTCAACAAATTTTTGTTAAATGAATGACTGTGTCAAACATGGAGAAGTCTCAAAGGAGACAAAAGATGAAGAAGCACCTCAAGAAATACCAATAGGCCCTGTGTGGCTGCAGGGGGATGGGAGTGCTTACCGATGGTGGCAATGATGCTGGTACTGCGAGCAGCCACGGGCTCGGAGTCAATGTCCAGTAGGCAGAGGTGTTCCAGGAAGGTGTCTGCCATAGCAGCTGGCAGCTGCTGCTGCTGGAAGAAGGCAGTGCCCAGCTCCTGGGTCAGTTGGGCCACACTGGCCCGCCGCAGATACCCCGCTGGCCCTGTGGTAGAAGGGGGCTCAGGGACTGCATGTCACCTGCCCTTCCTCCCCATGCCTTCGTCTCTCAGCATACCCTCTGTTCCTTCCCTTCTTATGAGCTGGGCATCATGCATATATTATTTTATTATGTCACAAGGATCCTATAAAGCAGGTACTGTTAAATGTTCTATAATTATCCAATTTTATGGATAAAGAAACAGAGGCTGAGAAACAGGAAATAAATGGTCCAATATTATACAGCTTCTAAGTATGGATCAGCTAGGATTCAAATCTAGGTCTGACTAACTCTAGCCCAAGTTCTTGACCACTCAGTTATACTGACCCCGCACAACCCAGGACCCCCCGACCTGCAGCTACTGATGACCCTCAACCCCACCACCCCTTGATGTCTAGTCCCCAGCAGCCTCACCCTATGCAGACCCAGAATCACCCAGTTCCTGCTCCAAAGGTCTCTGTTTTCTCCCTTCCAACCCCTGGCTACTGGCTGGCTTCCCCACCCCATCCTCTGAGTCTCCCCAGGCTTCTCAAAGCTGCTACAGACACAGAGGTCCCTGTAGCTTGACCCATCCCAGTTCAGAGGAGCCCCCGATTCCAGCCGCACCTTCCATGCCACTGCACACCTCTCTGGGTCTCCCTCTCTGTGGGTCTGCTCCACACTGTTGGGTTGTCAGAGGCATGAGGCCCAGCTGGGCTGGGGATCAGTTCTGCAGACTGGTTAAAGTGTCACCACTGTCTCCTGTTCCATTGGAAGCCCTGTATGCCAGGGGCCAGAGTCCAGGAACCACGGGAGTGCCCCGTGGCTTACATGCTGTGGCTCTGGCCTGCCTATAGGGCCTGGAAAAGACCCAGGCCAGGGTCCATAATTTAACACACGGGAGGCTCTGAAGAACGTACGTTCCTCTCCAAAACCCACCTAGCCAGTGGCTGATGTGGATCATTTATGCCCTCCACCCTGGCTCCTAGTTTTCACCCTCATTTTCCTCCTATGTTCCATGGCTTCTGTCTCCCCTTCTTACCTCCTGGAGCCCCAATCAGGATGGACTTTGCTAAGTCTCTTTGGGACTTAGAGACCCATGACCGAAGCTGCAGGGATGATATGTTCTCCTGGATCGACATGCTTTCAGTGTGGGCCTGGGGCTGCGGGACCATGGAATGAGAGGGAGAGGATGACAAAACTGCTGGTCTTATCTAAGGGAGACAGAGAAGAGAAAAGGGGCACACCCAGTAGGCCACCCTGTCCCCACAGAATCCCTCCCCCAGAACGGCCTGCTCTCTGCCCTCATCTCCTGGCATTTCCTCTCATCCTTTTTTCCTGATAAATTTTCAATCCATTCATACTATCTGGTCATCCACGTGAATAGATATTTTTTTTTTGGCCAGTCATATGGCCCCATTTTCTTTGTACTTTACTGAAGTTAGCTCTAGTGAATCCAGGGAGCAGGGGCTGTAGGGTGGGGCTGGAGCCTGAAGAAAGACAAAAGGGATCACTGTGATAATATGGTGGGGGGAGGGTTACCCAGTTCTGACCACTTTTTTTCTCTGTCTCAACCAAGAAATGCAGAGTGCCTTCACCACTCTGTAACCTGGCCAGCTGCATGTTTTCGCCTACATGTTTGAACCCAAGATGGTACCTTGAACATTCTCAGACACTGATAAACTTGATTAGGTTGTTGCTGGAAACACTGAAAGATCGACTATTTTGCTAAACTTATAGACTCCTACCCCCAGGGAAATTTTCTTTCCTCCCTCCCTTCCTTCCTTTTTTCTTTTTCTTTTTTCTTTTTTTTCTTTTTTTTTTCACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGTTCATTGCAACCTCTGCGATCCTCCTGCCTCAGCCTACCGAGTAGCTGGGATTACAGACGTGCACCACCACACCCAGCTAATTTTGTTTTTCTTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGACTGAGTCTGACTCTGTTGCCCAGGTTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAC
ACGGGGTTTCACCATGTTGGCCAGGATGGTATCGATCTCTTGACCTCGTGATCAGTCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAAACACCACGCCTGGCCTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGGGTGCAATGGCACGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCGGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTTTTTTTTCTTTTTTTAAAAACAAACAAACAAACAAACAGAGTTTCGCTCTTGTTGCCCAAACTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAATCTCTGTCTCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCACATGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACAGAGTTTCACCACATTAGCCAGGCTGGTCTCGGACCCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCAAGAGCCACCATGCCCGGCCAACTTTCACTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTCTTTCTTTCTTGCCTGCTTGCTTTCTTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCTTTCTCTCTCTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTCTCTTTCTCTCTAGGGTCTCGTCTGTCACCTAGGCTGGAGTACAGTGGCTCGATCATGACTCACTGCAGCCGTGACCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACCACCACACTCAACTAAGTTTTGTATTTTTTGTAGAGATGGGTTTTGCCATTTACCCAGACTGGTCTCAAACTCCTGGGCTCAAGCGATCTGCCAACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCAGCCCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGATGGAGTTTTTCTCCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCGGCTCACCACAGTCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGCAGGCACGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTGGGCCTCCCAACATGCTGCGATTACAGGCATGAGCCACCATGCCCGGCCTCACTTTCTAACGGAATAAATAATTTACTTATTTTAAATAATTTATTGTGCTTACTATTTATTGTCATACTCAGCTAGACTGTCAGCTCCCCAAGGGTAGGGATTTTTGTCTGTTTTTTTCACTGATCTACTCCCAGGGCCCAAAATCTTGTCTACTATATGCTCAACAAATTTTTGTTAAATGAATGACTGTGTCAAACATGGAGAAGTCTCAAAGGAGACAAAAGATGAAGAAGCACCTCAAGAAATACCAATAGGCCCTGTGTGGCTGCAGGGGGATGGGAGTGCTTACCGATGGTGGCAATGATGCTGGTACTGCGAGCAGCCACGGGCTCGGAGTCAATGTCCAGTAGGCAGAGGTGTTCCAGGAAGGTGTCTGCCATAGCAGCTGGCAGCTGCTGCTGCTGGAAGAAGGCAGTGCCCAGCTCCTGGGTCAGTTGGGCCACACTGGCCCGCCGCAGATACTCCGCTGGCCCTGTGGTAGAAGGGGGCTCAGGGACTGCATGTCACCTGCCCTTCCTCCCCATGCCTTCGTCTCTCAGCATACCCTCTGTTCCTTCCCTTCTTATGAGCTGGGCATCATGCATATATTATTTTATTATGTCACAAGGATCCTATAAAGCAGGTACTGTTAAATGTTCTATAATTATCCAATTTTATGGATAAAGAAACAGAGGCTGAGAAACAGGAAATAAATGGTCCAATATTATACAGCTTCTAAGTATGGATCAGCTAGGATTCAAATCTAGGTCTGACTAACTCTAGCCCAAGTTCTTGACCACTCAGTTATACTGACCCCGCACAACCCAGGACCCCCCGACCTGCAGCTACTGATGACCCTCAACCCCACCACCCCTTGATGTCTAGTCCCCAGCAGCCTCACCCTATGCAGACCCAGAATCACCCAGTTCCTGCTCCAAAGGTCTCTGTTTTCTCCCTTCCAACCCCTGGCTACTGGCTGGCTTCCCCACCCCATCCTCTGAGTCTCCCCAGGCTTCTCAAAGCTGCTACAGACACAGAGGTCCCTGTAGCTTGACCCATCCCAGTTCAGAGGAGCCCCCGATTCCAGCCGCACCTTCCATGCCACTGCACACCTCTCTGGGTCTCCCTCTCTGTGGGTCTGCTCCACACTGTTGGGTTGTCAGAGGCATGAGGCCCAGCTGGGCTGGGGATCAGTTCTGCAGACTGGTTAAAGTGTCACCACTGTCTCCTGTTCCATTGGAAGCCCTGTATGCCAGGGGCCAGAGTCCAGGAACCACGGGAGTGCCCCGTGGCTTACATGCTGTGGCTCTGGCCTGCCTATAGGGCCTGGAAAAGACCCAGGCCAGGGTCCATAATTTAACACACGGGAGGCTCTGAAGAACGTACGTTCCTCTCCAAAACCCACCTAGCCAGTGGCTGATGTGGATCATTTATGCCCTCCACCCTGGCTCCTAGTTTTCACCCTCATTTTCCTCCTATGTTCCATGGCTTCTGTCTCCCCTTCTTACCTCCTGGAGCCCCAATCAGGATGGACTTTGCTAAGTCTCTTTGGGACTTAGAGACCCATGACCGAAGCTGCAGGGATGATATGTTCTCCTGGATCGACATGCTTTCAGTGTGGGCCTGGGGCTGCGGGACCATGGAATGAGAGGGAGAGGATGACAAAACTGCTGGTCTTATCTAAGGGAGACAGAGAAGAGAAAAGGGGCACACCCAGTAGGCCACCCTGTCCCCACAGAATCCCTCCCCCAGAACGGCCTGCTCTCTGCCCTCATCTCCTGGCATTTCCTCTCATCCTTTTTTCCTGATAAATTTTCAATCCATTCATACTATCTGGTCATCCACGTGAATAGATATTTTTTTTTTGGCCAGTCATATGGCCCCATTTTCTTTGTACTTTACTGAAGTTAGCTCTAGTGAATCCAGGGAGCAGGGGCTGTAGGGTGGGGCTGGAGCCTGAAGAAAGACAAAAGGGATCACTGTGATAATATGGTGGGGGGAGGGTTACCCAGTTCTGACCACTTTTTTTCTCTGTCTCAACCAAGAAATGCAGAGTGCCTTCACCACTCTGTAACCTGGCCAGCTGCATGTTTTCGCCTACATGTTTGAACCCAAGATGGTACCTTGAACATTCTCAGACACTGATAAACTTGATTAGGTTGTTGCTGGAAACACTGAAAGATCGACTATTTTGCTAAACTTATAGACTCCTACCCCCAGGGAAATTTTCTTTCCTCCCTCCCTTCCTTCCTTTTTTCTTTTTCTTTTTTCTTTTTTTTCTTTTTTTTTTCACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGTTCATTGCAACCTCTGCGATCCTCCTGCCTCAGCCTACCGAGTAGCTGGGATTACAGACGTGCACCACCACACCCAGCTAATTTTGTTTTTCTTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGACTGAGTCTGACTCTGTTGCCCAGGTTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAC
Task1_train_1699
Given a variant located on Chromosome 1 and affecting FDPS, RUSC1-AS1 (farnesyl diphosphate synthase| RUSC1 antisense RNA 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Porokeratosis 9, multiple types
AATAAAAATTAAAACCTGGGTATAGGGCCGGGTGCATTGGCTCACACTTAAAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGATCACGTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCTTGTCTCTACTAAAAACACAAAAATTAGCCGGGTGTGATGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAATGAGAGTGAAACTCCATCTCAAAAACAAAAACCTGGGTATGTATCTAGAAGTGGAAAAACAAAAAAAGGAAATAAGTTATGAAAATAAAAACCATGTCTTGAGCTGGGTGCGCTGGTGTGTGCCTATATCCCTAGATTCTCAAGAGTTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGTCCAACTTGGGCAACATGACAAGACCCTTGTCTCTTTAAAAAAGCAACCCAAACCATGTCTTGAAAAGCTATTTAATGGTCAGACACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTCTACTGAATGAAAATACAAAAATTAGCTGGCCTAGCAGTTGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATTTGGGAGGCGGAGGTTACAGTGAACCCACATGGCGCCACTGCACTCCAGCTTGGGTGATAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAGAAAAGCTATTTAAGGAACCAAAACATAGTTTGACTGACTGCAAGAAGTATCACAGGGAATGTTAGAGTGTTTTATTAATTTCTTTGTCAGACAAGTGTTTAGGAAACTCTCACTCCAGGCCTAATGCTGTGCTAGGCTCTGCAAATGCTAAGAGGGGGAAGTTACTGTCCCTGCTTCCAAGGAGATCATGGTCTAGTGGGAAACCCGACACGTTCAGGTACCTTCAGATGGGCACTCAGAAGAGTAAGCCCTTAGTTAATGTTTAAAGATGTTTAAAGATGTCTGAGACTCATAGGTCAAAGTCAGATTTCAGTTCCACCTTATTAGACCTGCACTGCTAAGGAGCTGCTTTAGGTAAGGCTGTGTTCCTAGTCACCAGGGTGTTCAAACACAGTGCTGGGGGCAATGTGGGAATAGCCTTCTTTTATTTAGGAAGTAATGTGAAGTCAGTTTCATGAATAGATCTTACTTTAAGCATTCATTGAGGTTTTTGGCAAGAATAGAGTACGGTATATGAAGGTGTTTCCTAATCTCCCTGACACCAGGAATAATCTAGGGCTCATTAGAGATGTCAAAGATCTGTTCTAGTTTCTTAACCTAAAACAAGAGTGTTTTAGTTCCATTTTATAGGCGGGGAGTCTGAGCCAAACATGTTATGTCACTTTCCAAGTCTCCATAGCACAGAAGTCTTCTGTCTCCCCATCCTGACTTTCCCAGCTCATAGGGACTGTCAAAGGCAGCAGCTCTGGCCGGCTGTGATGCCTCATGCCTGTAATCCCAGTAATTTGGGAGGCTGAGGCAGGAGGATCATTTGAACCCAGGGGTTCAAAACCAGCCTGAGCAACATAGTGGGACCCTGTCTCTACAAAAAATAAATTAAAAAAAAAAAATAGCCAGGCATGGGGTATGTGCCTATGGTCTCAGGAACTCAGGAAGCTGAAGTGGGAGGATCACTTGAGCCTGGGAGTTAGAGGCTACAGTGAGCTGTGACTGCACCACTGCACTGGATAATAGTGAGACTCTGTCCCCTACCAAAAAAAAGCAAAACTATATACAGATATAAAGTAGCAGCTCTGTTGCTGATAGAAGGAACAGTAATGAGGAGCCCTGCAGGTCTTATTCCACTCTTTCTAGCTGCAAGCTTTCTTCCTGGTGGCAGATGACATCATGGATTCATCCCTTACCCGCCGGGGACAGATCTGCTGGTATCAGAAGGTAATGTGGGCAGGAAAATAGCAGTGGGTATGGGGACAGGCCACAGGGAGGTGGTTATATATGGCCTGGTTGAGGTGTTGGGGTGATGGCTCTTAGTATGAACCGAGACTAGAGATTGATTGCTTGTTTTTCTGTCTGTCATGACAGCCGGGCGTGGGTTTGGATGCCATCAATGATGCTAACCTCCTGGAAGCATGTATCTACCGCCTGCTGAAGCTCTATTGCCGGGAGCAGCCCTATTACCTGAACCTGATCGAGCTCTTCCTGCAGGTGTATTGCAGACAGGGCCCGATGCCCAGAGGGTGCCCATGGTAGCCTTGGCCTCTATAGGACATGCTCATCTAGCTGGTTTCAGGGTACAGGATTGCAGCGTGCCTGGAAGGGAAAGAAAGCGAGGAAGGGTGTTGGGAAGTGGGGTTGTGGTAGTGGCAAGAAAGGGCTTCTCTGTCCTGTGTAATTGGAAGAAAGGGTGATAAAGGACTGTGTGTATGAATATGGGCCTTAAGTTTTGGGGCTTTCTCCCCTTCTGTTGCCTTTCTGATTCTGCCCAGTTGTCAGCTGGTATGGGATGTTGGGCTTGGGATACCAGGGTTTCGCATATCTGGAGAAAGCCTGGCTCATGGACCGTCTTTGTCTTGCTTAGAGTTCCTATCAGACTGAGATTGGGCAGACCCTGGACCTCCTCACAGCCCCCCAGGGCAATGTGGATCTTGTCAGATTCACTGAAAAGAGGTGAGGGGAGGTGAGGGACAGCGCGAACCATGTCTGGACAGCGAGGGAGGGCTCAGGATGTGCATTGCCCTCCTGAGGAGTTTCTCTTCTCCCCTTACTCAGGTACAAATCTATTGTCAAGTACAAGACAGCTTTCTACTCCTTCTACCTTCCTATAGCTGCAGCCATGTACATGGTGAGTGAGCCTCCTCACCCCTCTCTGCTCTGCTGATGGGGGCTTTTGGACAGCAAGGCATAGAGCAGAAAACGTGAACACTGCTACCCCTGGTGAAAAACTGTGTGACCTTGAGCAAGTCGGTCTCGCTCAGTCTCTTTCCTCAGCTGGGGATAAAATTCCTACTTCACAGGACTGTAAAGATTAAGCAAGGCAAGGGATATGAAAGTGCTTAGCACATAATAGGGGAACAATATATCCTGTATCTGAGTATGGATAGGAGTGTGGAGATCATCCAGGTTGAGAGGGAGAAGAGTGGATTAAAGACAGTCAGTGGGATTAAGTGTCTACCCTGACCTTGCTTCTCTACATTTCCTTTTCATCTTGAAAGAAGTTGGAGGTGGCAAAAATATTAGGAAGGTGGATCAGAATGACTTGGGGACTGACATTTGTGAGGGAAGAGACAGGCTGTGCACCTCTAGAATGGATTCATCTCTTTTATGACTCCCAGGAAGGCCTAGCCAAAAATAAGTGGGATTGAGGTTGGACCATCAGTCAGGACTGTCTAGGTCAGGGAAGCCAAGATGTCTGAAGAGAGAGGAAAGATTTGGGGCTGCAGTAGGGCAAGACCCCATGGGAGGAAGCAGCCAGGAAGATGCCGGCACCCCTGGGGTTTGGCTTATTAACCCCCCTTTCCCTGCAGGCAGGAATTGATGGCGAGAAGGAGCACGCCAATGCCAAGAAGATCCTGCTGGAGATGGGGGAGTTCTTTCAGATTCAGGTAAGAAGGCAGGAGGCAGTAGCAGAGAACAGGCACCAGCTTCACTCCTCCTCTGCCCAGGAACCTCATCCTTCCTCTTTTGCTGCCCTCCCCCTCCCTGCCCAGGATGATTACCTTGACCTCTTTGGGGACCCCAGTGTGACCGGCAAAATTGGCACTGACATCCAGGACAACAAATGCAGCTGGCTGGTGGTTCAGTGTCTGCAACGGGCCACTCCAGAACAGTACCAGATCCTGAAGGTGCCTGAGAGAGGGTGGTGGGTCCCTGAGTTGGTGGAAAGGGATAGAGCAGTGGTTCTCAACTAGAGGCAGTTTTCCTCCCGAGGGGACATTTGGCAATGTCAGCAGACATTTT
AATAAAAATTAAAACCTGGGTATAGGGCCGGGTGCATTGGCTCACACTTAAAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGATCACGTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCTTGTCTCTACTAAAAACACAAAAATTAGCCGGGTGTGATGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAATGAGAGTGAAACTCCATCTCAAAAACAAAAACCTGGGTATGTATCTAGAAGTGGAAAAACAAAAAAAGGAAATAAGTTATGAAAATAAAAACCATGTCTTGAGCTGGGTGCGCTGGTGTGTGCCTATATCCCTAGATTCTCAAGAGTTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGTCCAACTTGGGCAACATGACAAGACCCTTGTCTCTTTAAAAAAGCAACCCAAACCATGTCTTGAAAAGCTATTTAATGGTCAGACACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTCTACTGAATGAAAATACAAAAATTAGCTGGCCTAGCAGTTGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATTTGGGAGGCGGAGGTTACAGTGAACCCACATGGCGCCACTGCACTCCAGCTTGGGTGATAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAGAAAAGCTATTTAAGGAACCAAAACATAGTTTGACTGACTGCAAGAAGTATCACAGGGAATGTTAGAGTGTTTTATTAATTTCTTTGTCAGACAAGTGTTTAGGAAACTCTCACTCCAGGCCTAATGCTGTGCTAGGCTCTGCAAATGCTAAGAGGGGGAAGTTACTGTCCCTGCTTCCAAGGAGATCATGGTCTAGTGGGAAACCCGACACGTTCAGGTACCTTCAGATGGGCACTCAGAAGAGTAAGCCCTTAGTTAATGTTTAAAGATGTTTAAAGATGTCTGAGACTCATAGGTCAAAGTCAGATTTCAGTTCCACCTTATTAGACCTGCACTGCTAAGGAGCTGCTTTAGGTAAGGCTGTGTTCCTAGTCACCAGGGTGTTCAAACACAGTGCTGGGGGCAATGTGGGAATAGCCTTCTTTTATTTAGGAAGTAATGTGAAGTCAGTTTCATGAATAGATCTTACTTTAAGCATTCATTGAGGTTTTTGGCAAGAATAGAGTACGGTATATGAAGGTGTTTCCTAATCTCCCTGACACCAGGAATAATCTAGGGCTCATTAGAGATGTCAAAGATCTGTTCTAGTTTCTTAACCTAAAACAAGAGTGTTTTAGTTCCATTTTATAGGCGGGGAGTCTGAGCCAAACATGTTATGTCACTTTCCAAGTCTCCATAGCACAGAAGTCTTCTGTCTCCCCATCCTGACTTTCCCAGCTCATAGGGACTGTCAAAGGCAGCAGCTCTGGCCGGCTGTGATGCCTCATGCCTGTAATCCCAGTAATTTGGGAGGCTGAGGCAGGAGGATCATTTGAACCCAGGGGTTCAAAACCAGCCTGAGCAACATAGTGGGACCCTGTCTCTACAAAAAATAAATTAAAAAAAAAAAATAGCCAGGCATGGGGTATGTGCCTATGGTCTCAGGAACTCAGGAAGCTGAAGTGGGAGGATCACTTGAGCCTGGGAGTTAGAGGCTACAGTGAGCTGTGACTGCACCACTGCACTGGATAATAGTGAGACTCTGTCCCCTACCAAAAAAAAGCAAAACTATATACAGATATAAAGTAGCAGCTCTGTTGCTGATAGAAGGAACAGTAATGAGGAGCCCTGCAGGTCTTATTCCACTCTTTCTAGCTGCAAGCTTTCTTCCTGGTGGCAGATGACATCATGGATTCATCCCTTACCCGCCAGGGACAGATCTGCTGGTATCAGAAGGTAATGTGGGCAGGAAAATAGCAGTGGGTATGGGGACAGGCCACAGGGAGGTGGTTATATATGGCCTGGTTGAGGTGTTGGGGTGATGGCTCTTAGTATGAACCGAGACTAGAGATTGATTGCTTGTTTTTCTGTCTGTCATGACAGCCGGGCGTGGGTTTGGATGCCATCAATGATGCTAACCTCCTGGAAGCATGTATCTACCGCCTGCTGAAGCTCTATTGCCGGGAGCAGCCCTATTACCTGAACCTGATCGAGCTCTTCCTGCAGGTGTATTGCAGACAGGGCCCGATGCCCAGAGGGTGCCCATGGTAGCCTTGGCCTCTATAGGACATGCTCATCTAGCTGGTTTCAGGGTACAGGATTGCAGCGTGCCTGGAAGGGAAAGAAAGCGAGGAAGGGTGTTGGGAAGTGGGGTTGTGGTAGTGGCAAGAAAGGGCTTCTCTGTCCTGTGTAATTGGAAGAAAGGGTGATAAAGGACTGTGTGTATGAATATGGGCCTTAAGTTTTGGGGCTTTCTCCCCTTCTGTTGCCTTTCTGATTCTGCCCAGTTGTCAGCTGGTATGGGATGTTGGGCTTGGGATACCAGGGTTTCGCATATCTGGAGAAAGCCTGGCTCATGGACCGTCTTTGTCTTGCTTAGAGTTCCTATCAGACTGAGATTGGGCAGACCCTGGACCTCCTCACAGCCCCCCAGGGCAATGTGGATCTTGTCAGATTCACTGAAAAGAGGTGAGGGGAGGTGAGGGACAGCGCGAACCATGTCTGGACAGCGAGGGAGGGCTCAGGATGTGCATTGCCCTCCTGAGGAGTTTCTCTTCTCCCCTTACTCAGGTACAAATCTATTGTCAAGTACAAGACAGCTTTCTACTCCTTCTACCTTCCTATAGCTGCAGCCATGTACATGGTGAGTGAGCCTCCTCACCCCTCTCTGCTCTGCTGATGGGGGCTTTTGGACAGCAAGGCATAGAGCAGAAAACGTGAACACTGCTACCCCTGGTGAAAAACTGTGTGACCTTGAGCAAGTCGGTCTCGCTCAGTCTCTTTCCTCAGCTGGGGATAAAATTCCTACTTCACAGGACTGTAAAGATTAAGCAAGGCAAGGGATATGAAAGTGCTTAGCACATAATAGGGGAACAATATATCCTGTATCTGAGTATGGATAGGAGTGTGGAGATCATCCAGGTTGAGAGGGAGAAGAGTGGATTAAAGACAGTCAGTGGGATTAAGTGTCTACCCTGACCTTGCTTCTCTACATTTCCTTTTCATCTTGAAAGAAGTTGGAGGTGGCAAAAATATTAGGAAGGTGGATCAGAATGACTTGGGGACTGACATTTGTGAGGGAAGAGACAGGCTGTGCACCTCTAGAATGGATTCATCTCTTTTATGACTCCCAGGAAGGCCTAGCCAAAAATAAGTGGGATTGAGGTTGGACCATCAGTCAGGACTGTCTAGGTCAGGGAAGCCAAGATGTCTGAAGAGAGAGGAAAGATTTGGGGCTGCAGTAGGGCAAGACCCCATGGGAGGAAGCAGCCAGGAAGATGCCGGCACCCCTGGGGTTTGGCTTATTAACCCCCCTTTCCCTGCAGGCAGGAATTGATGGCGAGAAGGAGCACGCCAATGCCAAGAAGATCCTGCTGGAGATGGGGGAGTTCTTTCAGATTCAGGTAAGAAGGCAGGAGGCAGTAGCAGAGAACAGGCACCAGCTTCACTCCTCCTCTGCCCAGGAACCTCATCCTTCCTCTTTTGCTGCCCTCCCCCTCCCTGCCCAGGATGATTACCTTGACCTCTTTGGGGACCCCAGTGTGACCGGCAAAATTGGCACTGACATCCAGGACAACAAATGCAGCTGGCTGGTGGTTCAGTGTCTGCAACGGGCCACTCCAGAACAGTACCAGATCCTGAAGGTGCCTGAGAGAGGGTGGTGGGTCCCTGAGTTGGTGGAAAGGGATAGAGCAGTGGTTCTCAACTAGAGGCAGTTTTCCTCCCGAGGGGACATTTGGCAATGTCAGCAGACATTTT