Yum, tasty mutations...

mutation t@sting

QueryEngine

We offer automated MutationTaster analysis of variants from Next Generation Sequencing projects. Variants must be in VCF format and refer to GRCh37 / hg19. After your VCF file has been analysed, the link to download the results (archived as .zip) will be send via E-mail to you. For this reason, you have to provide a valid E-mail address. Look up more details in the documentation.

Data

VCF file     Please zip or gzip large files!   sample file
Format:
#CHROM   POS    ID  REF  ALT  QUAL  FILTER  INFO FORMAT SAMPLE
chr1     10199  .   A    C    4.77	.       .	 GT:DP  0/1:30
(tab delimited) The coordinates must refer to GRCh37 (also called hg19).
Project name
E-mail address    

Analysis settings

homozygous variants only yes analyse complete VCF
      ...but only exons with bases intron flanking
analyse variants on chr
      ...but only exons with bases intron flanking
analyse custom regions (select to enter)
exclude custom regions (select to enter)
combine neighbouring variants yes
filter polymorphisms
1000G ExAC
homozygous in >=
present (het or hom) in >=
number of individuals in 1000G or ExAC, set values to 0 to stop filtering
minimum coverage