Ensembl
VEP
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VEP run statistics

VEP version (API) 103 (103)
Annotation sourcesCache: /tmp/vep-ensembl-103.1/.vep/homo_sapiens/103_GRCh38; homo_sapiens_core_103_38 on ensembldb.ensembl.org; Custom: /tmp/dm1/annotationData/gnomad.genomes.r2.1.1.sites.liftover_grch38.vcf.bgz (exact); Custom: /tmp/dm1/annotationData/clinvar.hg38.vcf.gz (exact)
Specieshomo_sapiens
Command line options
--af --af_1kg --cache --canonical --custom /tmp/dm1/annotationData/gnomad.genomes.r2.1.1.sites.liftover_grch38.vcf.bgz,gnomADg,vcf,exact,0,AF --custom /tmp/dm1/annotationData/clinvar.hg38.vcf.gz,ClinVar,vcf,exact,0,CLINSIG,CLNREVSTAT,CLNDN --dir_cache /tmp/vep-ensembl-103.1/.vep --dir_plugins /tmp/vep-ensembl-103.1/.vep/Plugins --domains --force_overwrite --input_file /net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/M0234-case-Joubert-8056-3/M0234-case-Joubert-8056-3.guppy5012.minimap2.clair3.targetsOnly.vcf --max_af --numbers --output_file /net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/M0234-case-Joubert-8056-3/M0234-case-Joubert-8056-3.guppy5012.minimap2.clair3.targetsOnly.VEP.vcf --pick --plugin CADD,/tmp/dm1/annotationData/CADDv1.6_hg38_whole_genome_SNVs.tsv.gz --plugin SpliceAI,snv=/tmp/dm1/annotationData/spliceai_scores.raw.snv.hg38.vcf.gz,indel=/tmp/dm1/annotationData/spliceai_scores.raw.indel.hg38.vcf.gz --polyphen b --pubmed --regulatory --sift b --symbol --total_length --vcf
Start time2021-10-10 23:17:37
End time2021-10-11 00:23:07
Run time3930 seconds
Input file/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/M0234-case-Joubert-8056-3/M0234-case-Joubert-8056-3.guppy5012.minimap2.clair3.targetsOnly.vcf
Output file/net/eichler/vol27/projects/clinicalLongReadSeq/nobackups/alignments/M0234-case-Joubert-8056-3/M0234-case-Joubert-8056-3.guppy5012.minimap2.clair3.targetsOnly.VEP.vcf

General statistics

Lines of input read29160
Variants processed29160
Variants filtered out0
Novel / existing variants1881 (6.5) / 27279 (93.5)
Overlapped genes415
Overlapped transcripts469
Overlapped regulatory features255

Variant classes

 
 

Consequences (most severe)

 
 

Consequences (all)

 
 

Coding consequences

 
 

SIFT summary

 
 

PolyPhen summary

 
 

Variants by chromosome

 
 

Position in protein