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Output Files/VCF File Format/VCF File Annotations

VCF File Annotations

FILTER Heading Table

Annotation

Description

IndelConflict

The locus is in region with conflicting indel calls. In any region where overlapping deletion evidence cannot be reolved into two haplotypes in the Germline mode, all indels and set records in the region are marked with the IndelConflict filter.

SiteConflict

The site genotype conflicts with proximal indel call. For instance, a heterozygous SNV call made inside a heterozygous deletion.

LowGQX

The genotyping quality locus (GQX) is less than 30 or not present.

HighDPFRatio

The fraction of base calls filtered out at a site is greater than the value 0.4. If many bases at the site are filtered out, it suggests that the site or position is bad.

HighSNVSB

The SNV strand bias value (SNVSB) exceeds 10.

OffTarget

The variant is not on target.

FORMAT Heading Table

Annotation

Description

GQX

The minimum of genotype quality assuming variant position and genotype quality assuming nonvariant position.

GT

The genotype.

GQ

The genotype quality.

DP

The filtered base call depth for site genotyping.

DPF

The base calls from input that are filtered before site genotyping.

AD

The allelic depths for the reference and alternate alleles in the order that are listed.

For indels, the value includes reads that support each allele. The posterior probability value of 0.999 or higher read contains indicated allele versus all other intersecting indel alleles.

DPI

The read depth associated with indel, taken from the position preceding the indel.

 INFO Heading Table

Annotation

Description

SNVSB

The SNV site strand bias.

SNVHPOL

The SNV homopolymer length.

CIGAR

The CIGAR alignment for each alternate indel allele

RU

The smallest repeating sequence unit extended or contracted in the indel allele relative to the reference. RUs that are longer than 20 bases are not reported.

REFREP

The number of times RU is repeated in reference.

IDREP

Number of times RU is repeated in indel allele.

END

End position of the region described in this record

BLOCKAVG_min30p3a

The nonvariant site block. All sites in a block are nonvariant.

The sites have the same filter value and have sample values in range [x,y], y <= max(x+3,(x*1.3)).

All printed site block sample values are the minimum observed in the region spanned by the block.