=== snpEff === ==== Download data ==== {{{ java -jar /data/CCRBioinfo/biowulf/local/snpEff_3_0/snpEff.jar download -c /data/CCRBioinfo/biowulf/local/snpEff_3_0/snpEff.config GRCh37.66 }}} ==== Run effect prediction ==== {{{ java -jar /data/CCRBioinfo/biowulf/local/snpEff_3_0/snpEff.jar eff -c /data/CCRBioinfo/biowulf/local/snpEff_3_0/snpEff.config GRCh37.66 }}} === snpSift === ==== Annotate with dbSNP ==== {{{ java -Xmx8g -jar /data/CCRBioinfo/biowulf/local/SnpSift_latest.jar annotate data/CCRBioinfo/public/GATK/bundle/1.5/hg19/dbsnp_135.hg19.excluding_sites_after_129.vcf tmp2.vcf > tmp2.dbsnp.vcf }}} ==== annotate with dbNSFP ===== {{{ # Donload and uncompress database (you need to do this only once): # WARNING: The database is 3Gb when compressed and 30Gb uncompressed. wget http://sourceforge.net/projects/snpeff/files/databases/dbNSFP2.0b3.txt.gz gunzip dbNSFP2.0b3.txt.gz }}} # Annotate using dbNSFP {{{ java -jar SnpSift.jar dbnsfp /data/CCRBioinfo/public/snpEff/data/dbNSFP2.0b3.txt myFile.vcf > myFile.annotated.vcf }}} ==== FILTERING ==== {{{ java -Xmx8g -jar /data/CCRBioinfo/biowulf/local/SnpSift_latest.jar filter '(na ID) & (ID =~ 'COSM') & !( ID =~ 'rs')' -f }}}