A feature codec for the VCF 4 specification
VCF is a text file format (most likely stored in a compressed manner). It contains meta-information lines, a header line, and then data lines each containing information about a position in the genome.
One of the main uses of next-generation sequencing is to discover variation amongst large populations of related samples. Recently the format for storing next-generation read alignments has been standardised by the SAM/BAM file format specification. This has significantly improved the interoperability of next-generation tools for alignment, visualisation, and variant calling. We propose the Variant Call Format (VCF) as a standarised format for storing the most prevalent types of sequence variation, including SNPs, indels and larger structural variants, together with rich annotations. VCF is usually stored in a compressed manner and can be indexed for fast data retrieval of variants from a range of positions on the reference genome. The format was developed for the 1000 Genomes Project, and has also been adopted by other projects such as UK10K, dbSNP, or the NHLBI Exome Project. VCFtools is a software suite that implements various utilities for processing VCF files, including validation, merging and comparing, and also provides a general Perl and Python API. The VCF specification and VCFtools are available from http://vcftools.sourceforge.net.
##fileformat=VCFv4.0 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878 chr1 109 . A T 0 PASS AC=1 GT:AD:DP:GL:GQ 0/1:610,327:308:-316.30,-95.47,-803.03:99 chr1 147 . C A 0 PASS AC=1 GT:AD:DP:GL:GQ 0/1:294,49:118:-57.87,-34.96,-338.46:99
GATK version 2.3-9-ge5ebf34 built at 2013/01/11 22:47:55.