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Date: 2018.8.6-10
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Place: Academia Sinica
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Register URL: https://sites.google.com/gate.sinica.edu.tw/genomicepi
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Software download
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Raw data
- gatk.vcf (reference hg38)
- demo_sample.vcf.gz (Ogden Syndrome, reference hg19)
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Result
- HG00403.chr20.gatk.hg38_multianno.txt
- HG00403.chr20.gatk.hg38_multianno.xlsx
$ ./annovar_db_download.sh
$ convert2annovar.pl -format vcf4 gatk.vcf > HG00403.chr20.gatk.avinput
NOTICE: Finished reading 3481 lines from VCF file
NOTICE: A total of 3443 locus in VCF file passed QC threshold, representing 3105 SNPs (2069 transitions and 1036 transversions) and 338 indels/substitutions
NOTICE: Finished writing 3105 SNP genotypes (2069 transitions and 1036 transversions) and 338 indels/substitutions for 1 sample
- script
$ perl annovar.pl -i HG00403.chr20.gatk.avinput -r hg38 -o HG00403.chr20.gatk
- tab output
$ table_annovar.pl HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -buildver hg38 -out HG00403.chr20.gatk -remove -protocol refGene,ensGene,cytoBand,genomicSuperDups,gwasCatalog,avsnp150,esp6500siv2_all,1000g2015aug_all,1000g2015aug_afr,1000g2015aug_amr,1000g2015aug_eur,1000g2015aug_eas,1000g2015aug_sas,nci60,cosmic85_coding,clinvar_20180603,gnomad_genome,exac03,intervar_20180118,dbnsfp31a_interpro -operation g,g,r,r,r,f,f,f,f,f,f,f,f,f,f,f,f,f,f,f -otherinfo -nastring NA
- csv output
$ table_annovar.pl HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -buildver hg38 -out HG00403.chr20.gatk -remove -protocol refGene,ensGene,cytoBand,genomicSuperDups,gwasCatalog,avsnp150,esp6500siv2_all,1000g2015aug_all,1000g2015aug_afr,1000g2015aug_amr,1000g2015aug_eur,1000g2015aug_eas,1000g2015aug_sas,nci60,cosmic85_coding,clinvar_20180603,gnomad_genome,exac03,intervar_20180118,dbnsfp31a_interpro, -operation g,g,r,r,r,f,f,f,f,f,f,f,f,f,f,f,f,f,f,f -otherinfo -nastring . -csvout
$ perl annovar.pl -i demo_sample.avinput -r hg19 -o demo_sample
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Gene-based (g)
- refGene
- ensGene
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Region-based (r)
- cytoBand
- genomicSuperDups
- gwasCatalog
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Filter-based (f)
- avsnp150
- esp6500siv2_all
- 1000g2015aug_all
- 1000g2015aug_afr
- 1000g2015aug_amr
- 1000g2015aug_eur
- 1000g2015aug_eas
- 1000g2015aug_sas
- gnomAD genome
- nci60
- cosmic85
- clinvar_20180603
- exac03
- intervar_20180118
- dbnsfp31a_interpro
-----------------------------------------------------------------
NOTICE: Processing operation=g protocol=refGene
NOTICE: Running with system command <annotate_variation.pl -geneanno -buildver hg38 -dbtype refGene -outfile HG00403.chr20.gatk.refGene -exonsort HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4>
NOTICE: Output files were written to HG00403.chr20.gatk.refGene.variant_function, HG00403.chr20.gatk.refGene.exonic_variant_function
NOTICE: the queryfile contains 3443 lines
NOTICE: threading is disabled for gene-based annotation on file with less than 1000000 input lines
NOTICE: Reading gene annotation from /home/workshop/ngs_tools/annovar/humandb/hg38_refGene.txt ... Done with 71041 transcripts (including 17412 without coding sequence annotation) for 27813 unique genes
NOTICE: Processing next batch with 3443 unique variants in 3443 input lines
NOTICE: Reading FASTA sequences from /home/workshop/ngs_tools/annovar/humandb/hg38_refGeneMrna.fa ... Done with 7 sequences
WARNING: A total of 515 sequences will be ignored due to lack of correct ORF annotation
-----------------------------------------------------------------
NOTICE: Processing operation=g protocol=ensGene
NOTICE: Running with system command <annotate_variation.pl -geneanno -buildver hg38 -dbtype ensGene -outfile HG00403.chr20.gatk.ensGene -exonsort HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4>
NOTICE: Output files were written to HG00403.chr20.gatk.ensGene.variant_function, HG00403.chr20.gatk.ensGene.exonic_variant_function
NOTICE: the queryfile contains 3443 lines
NOTICE: threading is disabled for gene-based annotation on file with less than 1000000 input lines
NOTICE: Reading gene annotation from /home/workshop/ngs_tools/annovar/humandb/hg38_ensGene.txt ... Done with 89732 transcripts (including 28806 without coding sequence annotation) for 42087 unique genes
NOTICE: Processing next batch with 3443 unique variants in 3443 input lines
NOTICE: Reading FASTA sequences from /home/workshop/ngs_tools/annovar/humandb/hg38_ensGeneMrna.fa ... Done with 13 sequences
WARNING: A total of 361 sequences will be ignored due to lack of correct ORF annotation
-----------------------------------------------------------------
NOTICE: Processing operation=r protocol=cytoBand
NOTICE: Running with system command <annotate_variation.pl -regionanno -dbtype cytoBand -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4>
NOTICE: Output file is written to HG00403.chr20.gatk.hg38_cytoBand
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Reading annotation database /home/workshop/ngs_tools/annovar/humandb/hg38_cytoBand.txt ... Done with 1293 regions
NOTICE: Finished region-based annotation on 861 genetic variants
NOTICE: Reading annotation database /home/workshop/ngs_tools/annovar/humandb/hg38_cytoBand.txt ... Done with 1293 regions
NOTICE: Finished region-based annotation on 861 genetic variants
NOTICE: Reading annotation database /home/workshop/ngs_tools/annovar/humandb/hg38_cytoBand.txt ... Done with 1293 regions
NOTICE: Reading annotation database /home/workshop/ngs_tools/annovar/humandb/hg38_cytoBand.txt ... Done with 1293 regions
NOTICE: Finished region-based annotation on 860 genetic variants
NOTICE: Finished region-based annotation on 861 genetic variants
-----------------------------------------------------------------
NOTICE: Processing operation=r protocol=genomicSuperDups
NOTICE: Running with system command <annotate_variation.pl -regionanno -dbtype genomicSuperDups -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4>
NOTICE: Output file is written to HG00403.chr20.gatk.hg38_genomicSuperDups
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Reading annotation database /home/workshop/ngs_tools/annovar/humandb/hg38_genomicSuperDups.txt ... Done with 69894 regions
NOTICE: Reading annotation database /home/workshop/ngs_tools/annovar/humandb/hg38_genomicSuperDups.txt ... Done with 69894 regions
NOTICE: Reading annotation database /home/workshop/ngs_tools/annovar/humandb/hg38_genomicSuperDups.txt ... Done with 69894 regions
NOTICE: Finished region-based annotation on 861 genetic variants
NOTICE: Finished region-based annotation on 861 genetic variants
NOTICE: Finished region-based annotation on 861 genetic variants
NOTICE: Reading annotation database /home/workshop/ngs_tools/annovar/humandb/hg38_genomicSuperDups.txt ... Done with 69894 regions
NOTICE: Finished region-based annotation on 860 genetic variants
-----------------------------------------------------------------
NOTICE: Processing operation=r protocol=gwasCatalog
NOTICE: Running with system command <annotate_variation.pl -regionanno -dbtype gwasCatalog -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4>
NOTICE: Output file is written to HG00403.chr20.gatk.hg38_gwasCatalog
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Reading annotation database /home/workshop/ngs_tools/annovar/humandb/hg38_gwasCatalog.txt ... Done with 84414 regions
NOTICE: Reading annotation database /home/workshop/ngs_tools/annovar/humandb/hg38_gwasCatalog.txt ... Done with 84414 regions
NOTICE: Finished region-based annotation on 861 genetic variants
NOTICE: Finished region-based annotation on 861 genetic variants
NOTICE: Reading annotation database /home/workshop/ngs_tools/annovar/humandb/hg38_gwasCatalog.txt ... Done with 84414 regions
NOTICE: Reading annotation database /home/workshop/ngs_tools/annovar/humandb/hg38_gwasCatalog.txt ... Done with 84414 regions
NOTICE: Finished region-based annotation on 860 genetic variants
NOTICE: Finished region-based annotation on 861 genetic variants
-----------------------------------------------------------------
NOTICE: Processing operation=f protocol=avsnp150
NOTICE: Running system command <annotate_variation.pl -filter -dbtype avsnp150 -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4>
NOTICE: Variants matching filtering criteria are written to HG00403.chr20.gatk.hg38_avsnp150_dropped, other variants are written to HG00403.chr20.gatk.hg38_avsnp150_filtered
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 860 unique variants in 860 input lines
NOTICE: Database index loaded. Total number of bins is 28304406 and the number of bins to be scanned is 789
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_avsnp150.txt...Done
NOTICE: Database index loaded. Total number of bins is 28304406 and the number of bins to be scanned is 766
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_avsnp150.txt...Done
NOTICE: Database index loaded. Total number of bins is 28304406 and the number of bins to be scanned is 753
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_avsnp150.txt...Done
NOTICE: Database index loaded. Total number of bins is 28304406 and the number of bins to be scanned is 777
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_avsnp150.txt...Done
-----------------------------------------------------------------
NOTICE: Processing operation=f protocol=esp6500siv2_all
NOTICE: Running system command <annotate_variation.pl -filter -dbtype esp6500siv2_all -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4>
NOTICE: the --dbtype esp6500siv2_all is assumed to be in generic ANNOVAR database format
NOTICE: Variants matching filtering criteria are written to HG00403.chr20.gatk.hg38_esp6500siv2_all_dropped, other variants are written to HG00403.chr20.gatk.hg38_esp6500siv2_all_filtered
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 860 unique variants in 860 input lines
NOTICE: Database index loaded. Total number of bins is 683825 and the number of bins to be scanned is 1
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_esp6500siv2_all.txt...Done
NOTICE: Database index loaded. Total number of bins is 683825 and the number of bins to be scanned is 6
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_esp6500siv2_all.txt...Done
NOTICE: Database index loaded. Total number of bins is 683825 and the number of bins to be scanned is 19
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_esp6500siv2_all.txt...Done
NOTICE: Database index loaded. Total number of bins is 683825 and the number of bins to be scanned is 9
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_esp6500siv2_all.txt...Done
-----------------------------------------------------------------
NOTICE: Processing operation=f protocol=1000g2015aug_all
NOTICE: Running system command <annotate_variation.pl -filter -dbtype 1000g2015aug_all -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4>
NOTICE: Variants matching filtering criteria are written to HG00403.chr20.gatk.hg38_ALL.sites.2015_08_dropped, other variants are written to HG00403.chr20.gatk.hg38_ALL.sites.2015_08_filtered
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 860 unique variants in 860 input lines
NOTICE: Database index loaded. Total number of bins is 2821635 and the number of bins to be scanned is 498
NOTICE: Database index loaded. Total number of bins is 2821635 and the number of bins to be scanned is 492
NOTICE: Database index loaded. Total number of bins is 2821635 and the number of bins to be scanned is 503
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_ALL.sites.2015_08.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_ALL.sites.2015_08.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_ALL.sites.2015_08.txt...Done
NOTICE: Database index loaded. Total number of bins is 2821635 and the number of bins to be scanned is 516
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_ALL.sites.2015_08.txt...Done
-----------------------------------------------------------------
NOTICE: Processing operation=f protocol=1000g2015aug_afr
NOTICE: Running system command <annotate_variation.pl -filter -dbtype 1000g2015aug_afr -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4>
NOTICE: Variants matching filtering criteria are written to HG00403.chr20.gatk.hg38_AFR.sites.2015_08_dropped, other variants are written to HG00403.chr20.gatk.hg38_AFR.sites.2015_08_filtered
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 860 unique variants in 860 input lines
NOTICE: Database index loaded. Total number of bins is 2817370 and the number of bins to be scanned is 491
NOTICE: Database index loaded. Total number of bins is 2817370 and the number of bins to be scanned is 503
NOTICE: Database index loaded. Total number of bins is 2817370 and the number of bins to be scanned is 497
NOTICE: Database index loaded. Total number of bins is 2817370 and the number of bins to be scanned is 516
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_AFR.sites.2015_08.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_AFR.sites.2015_08.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_AFR.sites.2015_08.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_AFR.sites.2015_08.txt...Done
-----------------------------------------------------------------
NOTICE: Processing operation=f protocol=1000g2015aug_amr
NOTICE: Running system command <annotate_variation.pl -filter -dbtype 1000g2015aug_amr -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4>
NOTICE: Variants matching filtering criteria are written to HG00403.chr20.gatk.hg38_AMR.sites.2015_08_dropped, other variants are written to HG00403.chr20.gatk.hg38_AMR.sites.2015_08_filtered
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 860 unique variants in 860 input lines
NOTICE: Database index loaded. Total number of bins is 2812567 and the number of bins to be scanned is 497
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_AMR.sites.2015_08.txt...Done
NOTICE: Database index loaded. Total number of bins is 2812567 and the number of bins to be scanned is 503
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_AMR.sites.2015_08.txt...Done
NOTICE: Database index loaded. Total number of bins is 2812567 and the number of bins to be scanned is 490
NOTICE: Database index loaded. Total number of bins is 2812567 and the number of bins to be scanned is 516
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_AMR.sites.2015_08.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_AMR.sites.2015_08.txt...Done
-----------------------------------------------------------------
NOTICE: Processing operation=f protocol=1000g2015aug_eur
NOTICE: Running system command <annotate_variation.pl -filter -dbtype 1000g2015aug_eur -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4>
NOTICE: Variants matching filtering criteria are written to HG00403.chr20.gatk.hg38_EUR.sites.2015_08_dropped, other variants are written to HG00403.chr20.gatk.hg38_EUR.sites.2015_08_filtered
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 860 unique variants in 860 input lines
NOTICE: Database index loaded. Total number of bins is 2809469 and the number of bins to be scanned is 516
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_EUR.sites.2015_08.txt...Done
NOTICE: Database index loaded. Total number of bins is 2809469 and the number of bins to be scanned is 498
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_EUR.sites.2015_08.txt...Done
NOTICE: Database index loaded. Total number of bins is 2809469 and the number of bins to be scanned is 503
NOTICE: Database index loaded. Total number of bins is 2809469 and the number of bins to be scanned is 492
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_EUR.sites.2015_08.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_EUR.sites.2015_08.txt...Done
-----------------------------------------------------------------
NOTICE: Processing operation=f protocol=1000g2015aug_eas
NOTICE: Running system command <annotate_variation.pl -filter -dbtype 1000g2015aug_eas -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4>
NOTICE: Variants matching filtering criteria are written to HG00403.chr20.gatk.hg38_EAS.sites.2015_08_dropped, other variants are written to HG00403.chr20.gatk.hg38_EAS.sites.2015_08_filtered
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 860 unique variants in 860 input lines
NOTICE: Database index loaded. Total number of bins is 2810247 and the number of bins to be scanned is 516
NOTICE: Database index loaded. Total number of bins is 2810247 and the number of bins to be scanned is 503
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_EAS.sites.2015_08.txt...Done
NOTICE: Database index loaded. Total number of bins is 2810247 and the number of bins to be scanned is 497
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_EAS.sites.2015_08.txt...Done
NOTICE: Database index loaded. Total number of bins is 2810247 and the number of bins to be scanned is 491
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_EAS.sites.2015_08.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_EAS.sites.2015_08.txt...Done
-----------------------------------------------------------------
NOTICE: Processing operation=f protocol=1000g2015aug_sas
NOTICE: Running system command <annotate_variation.pl -filter -dbtype 1000g2015aug_sas -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4>
NOTICE: Variants matching filtering criteria are written to HG00403.chr20.gatk.hg38_SAS.sites.2015_08_dropped, other variants are written to HG00403.chr20.gatk.hg38_SAS.sites.2015_08_filtered
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 860 unique variants in 860 input lines
NOTICE: Database index loaded. Total number of bins is 2813352 and the number of bins to be scanned is 516
NOTICE: Database index loaded. Total number of bins is 2813352 and the number of bins to be scanned is 491
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_SAS.sites.2015_08.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_SAS.sites.2015_08.txt...Done
NOTICE: Database index loaded. Total number of bins is 2813352 and the number of bins to be scanned is 503
NOTICE: Database index loaded. Total number of bins is 2813352 and the number of bins to be scanned is 496
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_SAS.sites.2015_08.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_SAS.sites.2015_08.txt...Done
-----------------------------------------------------------------
NOTICE: Processing operation=f protocol=nci60
NOTICE: Running system command <annotate_variation.pl -filter -dbtype nci60 -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4>
NOTICE: the --dbtype nci60 is assumed to be in generic ANNOVAR database format
NOTICE: Variants matching filtering criteria are written to HG00403.chr20.gatk.hg38_nci60_dropped, other variants are written to HG00403.chr20.gatk.hg38_nci60_filtered
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 860 unique variants in 860 input lines
NOTICE: Database index loaded. Total number of bins is 81459 and the number of bins to be scanned is 24
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_nci60.txt...Done
NOTICE: Database index loaded. Total number of bins is 81459 and the number of bins to be scanned is 1
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_nci60.txt...Done
NOTICE: Database index loaded. Total number of bins is 81459 and the number of bins to be scanned is 14
NOTICE: Database index loaded. Total number of bins is 81459 and the number of bins to be scanned is 13
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_nci60.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_nci60.txt...Done
-----------------------------------------------------------------
NOTICE: Processing operation=f protocol=cosmic85_coding
NOTICE: Running system command <annotate_variation.pl -filter -dbtype cosmic85_coding -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4>
NOTICE: the --dbtype cosmic85_coding is assumed to be in generic ANNOVAR database format
NOTICE: Variants matching filtering criteria are written to HG00403.chr20.gatk.hg38_cosmic85_coding_dropped, other variants are written to HG00403.chr20.gatk.hg38_cosmic85_coding_filtered
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 860 unique variants in 860 input lines
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_cosmic85_coding.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_cosmic85_coding.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_cosmic85_coding.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_cosmic85_coding.txt...Done
-----------------------------------------------------------------
NOTICE: Processing operation=f protocol=clinvar_20180603
NOTICE: Finished reading 5 column headers for '-dbtype clinvar_20180603'
NOTICE: Running system command <annotate_variation.pl -filter -dbtype clinvar_20180603 -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4 -otherinfo>
NOTICE: the --dbtype clinvar_20180603 is assumed to be in generic ANNOVAR database format
NOTICE: Variants matching filtering criteria are written to HG00403.chr20.gatk.hg38_clinvar_20180603_dropped, other variants are written to HG00403.chr20.gatk.hg38_clinvar_20180603_filtered
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 860 unique variants in 860 input lines
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Database index loaded. Total number of bins is 44007 and the number of bins to be scanned is 12
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_clinvar_20180603.txt...Done
NOTICE: Database index loaded. Total number of bins is 44007 and the number of bins to be scanned is 2
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_clinvar_20180603.txt...Done
NOTICE: Database index loaded. Total number of bins is 44007 and the number of bins to be scanned is 15
NOTICE: Database index loaded. Total number of bins is 44007 and the number of bins to be scanned is 26
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_clinvar_20180603.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_clinvar_20180603.txt...Done
-----------------------------------------------------------------
NOTICE: Processing operation=f protocol=gnomad_genome
NOTICE: Finished reading 8 column headers for '-dbtype gnomad_genome'
NOTICE: Running system command <annotate_variation.pl -filter -dbtype gnomad_genome -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4 -otherinfo>
NOTICE: the --dbtype gnomad_genome is assumed to be in generic ANNOVAR database format
NOTICE: Variants matching filtering criteria are written to HG00403.chr20.gatk.hg38_gnomad_genome_dropped, other variants are written to HG00403.chr20.gatk.hg38_gnomad_genome_filtered
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 860 unique variants in 860 input lines
NOTICE: Database index loaded. Total number of bins is 28084439 and the number of bins to be scanned is 753
NOTICE: Database index loaded. Total number of bins is 28084439 and the number of bins to be scanned is 789
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_gnomad_genome.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_gnomad_genome.txt...Done
NOTICE: Database index loaded. Total number of bins is 28084439 and the number of bins to be scanned is 776
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_gnomad_genome.txt...Done
NOTICE: Database index loaded. Total number of bins is 28084439 and the number of bins to be scanned is 766
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_gnomad_genome.txt...Done
-----------------------------------------------------------------
NOTICE: Processing operation=f protocol=exac03
NOTICE: Finished reading 8 column headers for '-dbtype exac03'
NOTICE: Running system command <annotate_variation.pl -filter -dbtype exac03 -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4 -otherinfo>
NOTICE: the --dbtype exac03 is assumed to be in generic ANNOVAR database format
NOTICE: Variants matching filtering criteria are written to HG00403.chr20.gatk.hg38_exac03_dropped, other variants are written to HG00403.chr20.gatk.hg38_exac03_filtered
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 860 unique variants in 860 input lines
NOTICE: Database index loaded. Total number of bins is 749044 and the number of bins to be scanned is 0
NOTICE: Database index loaded. Total number of bins is 749044 and the number of bins to be scanned is 7
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_exac03.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_exac03.txt...Done
NOTICE: Database index loaded. Total number of bins is 749044 and the number of bins to be scanned is 8
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_exac03.txt...Done
NOTICE: Database index loaded. Total number of bins is 749044 and the number of bins to be scanned is 15
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_exac03.txt...Done
-----------------------------------------------------------------
NOTICE: Processing operation=f protocol=intervar_20180118
NOTICE: Finished reading 29 column headers for '-dbtype intervar_20180118'
NOTICE: Running system command <annotate_variation.pl -filter -dbtype intervar_20180118 -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4 -otherinfo>
NOTICE: the --dbtype intervar_20180118 is assumed to be in generic ANNOVAR database format
NOTICE: Variants matching filtering criteria are written to HG00403.chr20.gatk.hg38_intervar_20180118_dropped, other variants are written to HG00403.chr20.gatk.hg38_intervar_20180118_filtered
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 860 unique variants in 860 input lines
NOTICE: Database index loaded. Total number of bins is 535845 and the number of bins to be scanned is 8
NOTICE: Database index loaded. Total number of bins is 535845 and the number of bins to be scanned is 0
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_intervar_20180118.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_intervar_20180118.txt...Done
NOTICE: Database index loaded. Total number of bins is 535845 and the number of bins to be scanned is 6
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_intervar_20180118.txt...Done
NOTICE: Database index loaded. Total number of bins is 535845 and the number of bins to be scanned is 3
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_intervar_20180118.txt...Done
-----------------------------------------------------------------
NOTICE: Processing operation=f protocol=dbnsfp31a_interpro
NOTICE: Finished reading 1 column headers for '-dbtype dbnsfp31a_interpro'
NOTICE: Running system command <annotate_variation.pl -filter -dbtype dbnsfp31a_interpro -buildver hg38 -outfile HG00403.chr20.gatk HG00403.chr20.gatk.avinput /home/workshop/ngs_tools/annovar/humandb/ -thread 4 -otherinfo>
NOTICE: the --dbtype dbnsfp31a_interpro is assumed to be in generic ANNOVAR database format
NOTICE: Variants matching filtering criteria are written to HG00403.chr20.gatk.hg38_dbnsfp31a_interpro_dropped, other variants are written to HG00403.chr20.gatk.hg38_dbnsfp31a_interpro_filtered
NOTICE: the queryfile contains 3443 lines
NOTICE: Creating new threads for query line 1 to 861
NOTICE: Creating new threads for query line 862 to 1722
NOTICE: Creating new threads for query line 1723 to 2583
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Creating new threads for query line 2584 to 3443
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 861 unique variants in 861 input lines
NOTICE: Processing next batch with 860 unique variants in 860 input lines
NOTICE: Database index loaded. Total number of bins is 275396 and the number of bins to be scanned is 0
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_dbnsfp31a_interpro.txt...Done
NOTICE: Database index loaded. Total number of bins is 275396 and the number of bins to be scanned is 2
NOTICE: Database index loaded. Total number of bins is 275396 and the number of bins to be scanned is 2
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_dbnsfp31a_interpro.txt...Done
NOTICE: Database index loaded. Total number of bins is 275396 and the number of bins to be scanned is 4
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_dbnsfp31a_interpro.txt...Done
NOTICE: Scanning filter database /home/workshop/ngs_tools/annovar/humandb/hg38_dbnsfp31a_interpro.txt...Done
-----------------------------------------------------------------
NOTICE: Multianno output file is written to HG00403.chr20.gatk.hg38_multianno.txt
Finished
./annovar_db_download.sh
Create humandb folder done!
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_refGene.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_refGeneMrna.fa.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_refGeneVersion.txt.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg19 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_refGene.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_refGeneMrna.fa.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_refGeneVersion.txt.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg38 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_knownGene.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_kgXref.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_knownGeneMrna.fa.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg19 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_knownGene.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_kgXref.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_knownGeneMrna.fa.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg38 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_ensGene.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_ensGeneMrna.fa.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg19 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_ensGene.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_ensGeneMrna.fa.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg38 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://hgdownload.cse.ucsc.edu/goldenPath/hg19/database/cytoBand.txt.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg19 build version, with files saved at the '/home/philippe/humandb' directory
--2018-08-06 17:58:27-- http://hgdownload.cse.ucsc.edu/goldenpath/hg38/database/cytoBand.txt.gz
Resolving hgdownload.cse.ucsc.edu (hgdownload.cse.ucsc.edu)... 128.114.119.163
Connecting to hgdownload.cse.ucsc.edu (hgdownload.cse.ucsc.edu)|128.114.119.163|:80... connected.
HTTP request sent, awaiting response... 200 OK
Length: 9882 (9.7K) [application/x-gzip]
Saving to: ‘cytoBand.txt.gz’
cytoBand.txt.gz 100%[============================================================================================>] 9.65K --.-KB/s in 0s
2018-08-06 17:58:27 (204 MB/s) - ‘cytoBand.txt.gz’ saved [9882/9882]
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://hgdownload.cse.ucsc.edu/goldenPath/hg19/database/genomicSuperDups.txt.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg19 build version, with files saved at the '/home/philippe/humandb' directory
--2018-08-06 17:58:34-- http://hgdownload.cse.ucsc.edu/goldenpath/hg38/database/genomicSuperDups.txt.gz
Resolving hgdownload.cse.ucsc.edu (hgdownload.cse.ucsc.edu)... 128.114.119.163
Connecting to hgdownload.cse.ucsc.edu (hgdownload.cse.ucsc.edu)|128.114.119.163|:80... connected.
HTTP request sent, awaiting response... 200 OK
Length: 4202400 (4.0M) [application/x-gzip]
Saving to: ‘genomicSuperDups.txt.gz’
genomicSuperDups.txt.gz 100%[============================================================================================>] 4.01M 685KB/s in 7.0s
2018-08-06 17:58:41 (583 KB/s) - ‘genomicSuperDups.txt.gz’ saved [4202400/4202400]
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://hgdownload.cse.ucsc.edu/goldenPath/hg19/database/phastConsElements100way.txt.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg19 build version, with files saved at the '/home/philippe/humandb' directory
--2018-08-06 17:59:04-- http://hgdownload.cse.ucsc.edu/goldenpath/hg38/database/phastConsElements100way.txt.gz
Resolving hgdownload.cse.ucsc.edu (hgdownload.cse.ucsc.edu)... 128.114.119.163
Connecting to hgdownload.cse.ucsc.edu (hgdownload.cse.ucsc.edu)|128.114.119.163|:80... connected.
HTTP request sent, awaiting response... 200 OK
Length: 90172140 (86M) [application/x-gzip]
Saving to: ‘phastConsElements100way.txt.gz’
phastConsElements100way.txt.gz 100%[============================================================================================>] 85.99M 14.4MB/s in 18s
2018-08-06 17:59:22 (4.86 MB/s) - ‘phastConsElements100way.txt.gz’ saved [90172140/90172140]
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_1000g2015aug.zip ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg19 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_1000g2015aug.zip ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg38 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_avsnp150.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_avsnp150.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg19 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_avsnp150.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_avsnp150.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg38 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_nci60.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_nci60.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg19 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_nci60.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_nci60.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg38 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_clinvar_20180603.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_clinvar_20180603.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg19 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_clinvar_20180603.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_clinvar_20180603.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg38 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_gnomad_genome.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_gnomad_genome.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg19 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_gnomad_genome.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_gnomad_genome.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg38 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_gnomad_exome.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_gnomad_exome.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg19 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_gnomad_exome.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_gnomad_exome.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg38 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_exac03.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_exac03.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg19 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_exac03.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_exac03.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg38 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_esp6500siv2_all.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_esp6500siv2_all.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg19 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_esp6500siv2_all.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_esp6500siv2_all.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg38 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_intervar_20180118.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_intervar_20180118.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg19 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_intervar_20180118.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_intervar_20180118.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg38 build version, with files saved at the '/home/philippe/humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_dbnsfp31a_interpro.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg19_dbnsfp31a_interpro.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg19 build version, with files saved at the 'humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_dbnsfp31a_interpro.txt.gz ... OK
NOTICE: Downloading annotation database http://www.openbioinformatics.org/annovar/download/hg38_dbnsfp31a_interpro.txt.idx.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg38 build version, with files saved at the 'humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://hgdownload.cse.ucsc.edu/goldenPath/hg19/database/gwasCatalog.txt.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg19 build version, with files saved at the 'humandb' directory
NOTICE: Web-based checking to see whether ANNOVAR new version is available ... Done
NOTICE: Downloading annotation database http://hgdownload.cse.ucsc.edu/goldenPath/hg38/database/gwasCatalog.txt.gz ... OK
NOTICE: Uncompressing downloaded files
NOTICE: Finished downloading annotation files for hg38 build version, with files saved at the 'humandb' directory
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Reference by:
- ANNOVAR
- Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR
- NAA10 / rs387906701
- SNPedia
- NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment
- OMIM - Ogden Syndrome
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All Information 2018 Genomic Epidemiology Workshop Use
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Edit by Philippe