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Regul@tionSpotter - easy interpretation of extragenic DNA variants

We offer automated analysis of variants from Whole Genome Sequencing projects in either user-defined genomic regions or in candidate genes and the genomic elements interacting with these. Variants must be in VCF format and refer to GRCh37. Look up more details in the documentation. You can also follow the provided tutorial to become familiar with the software and the results.

Project name       VCF file     Please zip or gzip large files! sample file
#CHROM   POS    ID  REF  ALT  QUAL  FILTER  INFO                                                                  FORMAT       SAMPLE
chr1     10199  .   A    C    4.77  .       DP=2;AF1=0.5003;CI95=0.25,0.75;DP4=1,0,0,1;MQ=60;FQ=-3.1;PV4=1,1,1,1  GT:PL:DP:GQ  0/1:33,0,28:2:30
(tab delimited) The coordinates must refer to GRCh37.

Analysis settings

recessive trait homozygous variants only
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
analyse the following regions or genes... analyse complete VCF file
analyse custom regions (select to enter)
analyse custom genes (select to enter)