Entering edit mode
2.8 years ago
zizigolu
★
4.3k
Hello
I have some vcf from a genome service company
I have annotated vcfs with annovar
perl table_annovar.pl /data//Downloads/vcf/snps.vcf humandb/ -buildver hg38 -out myanno -remove -protocol refGene,cytoBand,dbnsfp30a -operation g,r,f -nastring . -vcfinput
then by maftools I went to down stream analysis
At the first glance I see too many events with a median of > 1200 :(
> anno_maf
An object of class MAF
ID summary Mean Median
1: NCBI_Build NA NA NA
2: Center NA NA NA
3: Samples 8 NA NA
4: nGenes 572 NA NA
5: Frame_Shift_Del 1680 210.000 221.0
6: Frame_Shift_Ins 839 104.875 102.5
7: In_Frame_Del 124 15.500 16.0
8: In_Frame_Ins 59 7.375 5.0
9: Missense_Mutation 6839 854.875 852.5
10: Nonsense_Mutation 483 60.375 60.0
11: Nonstop_Mutation 12 1.500 0.5
12: Splice_Site 151 18.875 20.0
13: Translation_Start_Site 3 0.375 0.0
14: total 10190 1273.750 1274.5
How I know if I have a filtered vcf or the reason of this many events is because my vcfs are unfiltered
Company is not responding in this time frame
This is one of my vcf files
https://www.dropbox.com/s/rqvzaex4sg6ojwi/snp.vcf?dl=0
Please have a look a help me to know what is going wrong here
Have you examined the vcf header? It will often contain meta information lines to include information about filtering. The VCF format specification outlines a standard format for the description of filtering steps. In addition, many programs will self-document their application to the file (also true of SAM/BAM files). That is, when you apply some manipulation to the VCF file, the program will add how it was called to the end of the header, precisely for this purpose, so you can see what steps have been applied to file before you received it (or to remind yourself how you generated it). For example:
This is what I see in the headers
You think I still should do more filtering?