Variation Pattern Finder

This is documentation about our Variation Pattern Finder tool

Input Data Formats
Finder Interface
Output Formats
Using the tool with other data
Additional Info
API Script


The variation data discovered by the 1000 genomes project are organized in VCF files. The Variation Pattern Finder allows one to look for patterns of shared variation between individuals in the same vcf file. To be more specific, in any user-specified chromosomal regions, different samples would have different combination of variations. The finder looks for distinct variation combinations within the region, as well as individuals associated with each variation combination pattern. The finder only focuses on variations that change protein coding sequences such as non-synonymous coding SNPs, splice site changes.

Input Data Formats

The finder requires two input files to function.

The first is a remotely accessible tabix indexed vcf file. The vcf format is a tab format for presenting variation sites and genotypes data and is described at This tool takes both vcf4.0 and vcf4.1 format files.

The second file, which must also be remotely accessible, described which samples belongs to which populations. Each 1000 genomes release should have such a file associated with it. This file allows to organize output samples by population.

The format is:

sample_name population_name

These lines should be tab separated.

An example can be found on the 1000 genomes ftp site 20100804.ALL.panel

Finder Interface

The interface for the Finder can be navigated to either from the tools link which should be in the top right hand corner of each page below the logo or on any view page via the “Manage your data” link in the left hand menu.

When you read the pattern finders interface you will be presented with a form in which to enter your data. The form itself has 3 input boxes

  • VCF File URL: This should be the http or ftp url for the location of the vcf file. The vcf file needs to have a tabix index in the same location. By default, the finder uses the most up-to-date 1000 genomes project data release as variation VCF input.
  • Sample Population Mapping URL: This again should be a http or ftp url to the location of the sample mapping file. This file should be in the text format as described above. By default, the finder uses the sample-population mapping associated with the latest data release as input.
  • Region: This should be the genomic location you wish to view. This works best with regions of less than 500bp as the number of variation patterns is more manageable.

Output Format

The Finder offers a collapsed view and an expanded view. The collapsed view does not distinguish sites of homozygous reference with those with no data, therefore the number of distinctive combinations of variations is minimized; it offers a simplified and clear variation landscape in the region. The expanded view treats homozygous reference sites and no genotype data sites differently; allows one to see the data with more accuracy. The two views have the same layout as explained below.

The picture shows a snapshot of a result page. The right shows the functional variations found in the region with individual genotypes; the variations are sorted by chromosomal coordinate and the functional consequences of them are annotated in the headers. The right panel shows individual samples carrying each combination of variations, organized by population. The panels can be scrolled to view more data. The results can be exported in either csv or Excel format. Sections annotated by red numbers are described in greater details below.

screen shot of variation pattern finder output

  1. Variation Header:
    • line 1, variation rs number and the reference allele for the site, separated by “:”. When rs number is not available, chromosomal position of the site is given.
    • line 2, chromosome and chromosomal position of the variation, separated by “:”
    • line 3 and more, functional consequences of the SNP on transcript specified, one transcript per line. When it is non-synonymous coding, the amino acid changes are also displayed.
  2. Freq column: it gives the frequency of the given variant genotype combination in the file
  3. Sample panel: it displays the first 2 samples for a particular population who have this pattern of variation and the heading shows which population that sample group is from
  4. Genotype Panel: this is the individual genotypes as given by the VCF file. Please note if the delimiter symbol is | this means the genotype is phased; otherwise un-phased. “./.” in the expanded view represents sites with no genotype data. “-“ in the collapsed view represent genotypes that are either homozygous reference or no data.
  5. View Switch: this allows you to switch between the collapsed view and expanded view.
  6. Export: results can be saved as Excel or CSV files.

Using the Variation Pattern Finder with other data

The Variation Pattern Finder will work with any publicly visible remove (over http or ftp) vcf file which also has a tabix index. For more information about creating tabix indexes please look at Tabix: fast retrieval of sequence features from generic TAB-delimited files for more information about creating these indexes.

Additional Info

In addition to use the Finder to mine the VCF file, you may look into a VCF file directly. Rather than download the entire VCF file for the whole genome, you may slice out the piece of VCF file that contains data in a user-specified chromosomal region using another tool called Data Slicer. Data Slicer can also slice BAM files. Please see more instruction here.

API Script

You can also find a perl script version of this tool on the ftp site and documentation here