-
## Describe the issue
Some BND variants are missing vep annotations, while the rest have them.
## Additional information
### System
- VEP version: 113
- VEP Cache version: 113
### Full VEP…
-
Hi,
I would like to report an issue with the variant annotation in VEP version 113. Specifically, variants that should be annotated as `frameshift_variant` are being incorrectly annotated as `infra…
-
## Describe the issue
I'm annotating a vcf coming from Manta. In the output, some of the variants are not annotated and I don't know why. In my vcf, all the variants have all fields information (incl…
-
Hi,
Annovar did not manage to pass the command (annotate_variation.pl) with this kind of variant :
chr5 176942300 176942373 ACTTTCTCAGAGCCCCAAAGCCTGTAAAACTGGCACTACCCCTACAAGTTGCAGATGATGAAACTGAGGC…
-
Hi,
I observed that for the variant **1:98348885_G>A**, the HGVSp annotation returned by VEP is **p.C29=**. However, the expected annotation should be **p.R29C**.
This discrepancy might lead to conf…
-
**Describe the bug**
Currently, mehari does not annotate tx on the MT chromosome.
```
curl 'http://mehari:8080/seqvars/csq?genome_release=grch37&chromosome=MT&position=73&reference=A&alternati…
-
Dear developers,
I wonder if it is possible to export SNPs for loci or regions based on annotations derived from the original VCF.
For example, exporting all SNPs with missense variants for gene…
-
## Describe the issue
VEP performed incorrect pHGVS annotation for the variant `NM_173660.5:c.1124_1127dup (rs606231128)` .
VEP annotated the variant as `NP_775931.3:p.Ala377ProfsTer31` when the cor…
-
I appreciate this valuable protocol, and it has been beneficial for me. I have some questions, and I would be very grateful if you could guide me:
- Some of the links you provided to download the …
-
**Is your feature request related to a problem? Please describe.**
Some variant calls might be incorrect or need to be adjusted to take multinucleotide variants into account. Currently the user might…