VEP: “Given ref” field is empty when a ref. allele was in VCF input
Hi there,
I’m running VEP using the following command:
ref="GRCh38.primary_assembly.genome.fa"
vep="/opt/vep_ensembl/ensembl-vep/vep"
for ea in *Somatic.hc.vcf
do $vep -i $ea -o vep/"$(echo $ea | sed s/.vcf//)"_VEP.txt
--cache --dir_cache "/home/shared/vep_cache/" --assembly GRCh38
--merged --fasta $ref --hgvs --hgvsg --symbol --pick --tab --fork 1
--offline
done;
In some cases I get a blank entry for “given ref”, e.g.:
head(temp)
#Uploaded_variation Location Allele Gene Feature Feature_type Consequence cDNA_position CDS_position
1: chr2_11077037_C/T chr2:11077037 T - - - intergenic_variant - -
2: chr2_90272360_T/A chr2:90272360 A - - - intergenic_variant - -
3: chr2_90272610_C/A chr2:90272610 A - - - intergenic_variant - -
4: chr2_90281038_C/G chr2:90281038 G - - - intergenic_variant - -
5: chr2_91477060_T/A chr2:91477060 A - - - intergenic_variant - -
6: chr2_91544770_T/C chr2:91544770 C - - - intergenic_variant - -
Protein_position Amino_acids Codons Existing_variation IMPACT DISTANCE STRAND FLAGS SYMBOL SYMBOL_SOURCE HGNC_ID
1: - - - - MODIFIER - - - - - -
2: - - - - MODIFIER - - - - - -
3: - - - - MODIFIER - - - - - -
4: - - - - MODIFIER - - - - - -
5: - - - - MODIFIER - - - - - -
6: - - - - MODIFIER - - - - - -
REFSEQ_MATCH SOURCE REFSEQ_OFFSET GIVEN_REF USED_REF BAM_EDIT HGVSc HGVSp HGVS_OFFSET HGVSg
1: - - - - - - - - - chr2:g.11077037C>T
2: - - - - - - - - - chr2:g.90272360T>A
3: - - - - - - - - - chr2:g.90272610C>A
Based on the “uploaded variation” field, it is clear that I am providing a ref. allele. Why is VEP not using this as the reference?
Thanks in advance.
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