Entering edit mode
5.6 years ago
cocchi.e89
▴
290
I am working with some variants and try to annotate them with VEP, I have noticed that some variants (as example 1-2866128-C-T on chr 1) are not annotated by VEP, my output (VCF format):
1 2866128 . C T . . .
my command:
./vep \
-i "$file_inputed" \
--cache --dir_cache /Volumes/enricoWD/vep/vep_cache/ \
--fasta /Volumes/enricoWD/vep/vep_fasta/homo_sapiens/96_GRCh37/Homo_sapiens.GRCh37.dna.primary_assembly.fa \
--dir_plugins /Volumes/enricoWD/vep/vep_plugins/ \
--hgvs \
--no_stats \
--offline \
--symbol \
--vcf \
--pick_allele_gene \
--no_intergenic \
--gencode_basic \
--sift b \
--polyphen b \
--plugin dbNSFP,/Volumes/enricoWD/dbNFSP/v4.0/dbNSFP_hg19.gz,LRT_score,LRT_pred,GERP++_RS \
--plugin dbscSNV,/Volumes/enricoWD/dbNFSP/dbsc/dbscSNV1.1_GRCh37.txt.gz \
--assembly GRCh37 \
-o "$file_outputed" 2>&1 >> "$log_file"
Does anybody got a clue? And in such case how could I retrieve the variant effect for those variants?
Thanks a lot in advance for any help!