diff --git a/variants/annotvcf.sh b/variants/annotvcf.sh index 1ca2a785324c0a2969fc28c29e3f7e6432dd5517..21c869eaf20ee57a0dd36e93fc148a317c5e144a 100644 --- a/variants/annotvcf.sh +++ b/variants/annotvcf.sh @@ -35,7 +35,8 @@ then tabix ${unionvcf} bcftools annotate -Oz -a ${index_path}/gnomad.exomes.r2.0.2.HG38.vcf.gz -o ${pair_id}.gnomad.vcf.gz --columns CHROM,POS,AF,AF_raw,AF_POPMAX,POPMAX ${unionvcf} tabix ${pair_id}.gnomad.vcf.gz - java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config GRCh38.86 ${pair_id}.gnomad.vcf.gz | java -jar $SNPEFF_HOME/SnpSift.jar annotate -id ${index_path}/dbSnp.vcf.gz - | java -jar $SNPEFF_HOME/SnpSift.jar annotate -info CLNSIG,CLNDSDB,CLNDSDBID,CLNDBN,CLNREVSTAT,CLNACC ${index_path}/clinvar.vcf.gz - | java -jar $SNPEFF_HOME/SnpSift.jar annotate -info CNT ${index_path}/cosmic.vcf.gz - | java -Xmx10g -jar $SNPEFF_HOME/SnpSift.jar dbnsfp -v -db ${index_path}/dbNSFP.txt.gz - |bgzip > ${pair_id}.annot.vcf.gz + bcftools annotate -Oz -a ${index_path}/repeat_regions.bed.gz -o ${pair_id}.repeat.vcf.gz --columns CHROM,FROM,TO,RepeatType -h /project/shared/bicf_workflow_ref/RepeatType.header ${pair_id}.gnomad.vcf.gz + java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config GRCh38.86 ${pair_id}.repeat.vcf.gz | java -jar $SNPEFF_HOME/SnpSift.jar annotate -id ${index_path}/dbSnp.vcf.gz - | java -jar $SNPEFF_HOME/SnpSift.jar annotate -info CLNSIG,CLNDSDB,CLNDSDBID,CLNDBN,CLNREVSTAT,CLNACC ${index_path}/clinvar.vcf.gz - | java -jar $SNPEFF_HOME/SnpSift.jar annotate -info CNT ${index_path}/cosmic.vcf.gz - | java -Xmx10g -jar $SNPEFF_HOME/SnpSift.jar dbnsfp -v -db ${index_path}/dbNSFP.txt.gz - | bgzip > ${pair_id}.annot.vcf.gz tabix ${pair_id}.annot.vcf.gz else if [[ $index_path == '/project/shared/bicf_workflow_ref/GRCm38' ]]