BWA Whole Genome Sequencing VCF Entries

The VCF files for BWA Whole Genome Sequencing can have the following entries in the FILTER, FORMAT, and INFO fields:

Table 2   VCF FILTER Entries
Entry Description
LowGQX Locus GQX is less than 30.0000 or not present
LowQD Locus QD is less than 2.0000
LowMQ Site MQ is less than 20.0000
SB Strand bias (SB) is greater than 10
IndelConflict Locus is in region with conflicting indel calls.
MaxDepth Site depth is greater than 3.0x the mean chromosome depth
SiteConflict Site genotype conflicts with proximal indel call. This conflict is typically a heterozygous SNV call made inside of a heterozygous deletion.
TruthSensitivityTranche99.00to99.90 Truth sensitivity tranche level at VSQ Lod: -2.213 <= x < -0.5954
TruthSensitivityTranche99.90to100.00+ Truth sensitivity tranche level at VQS Lod < -8291.1535
TruthSensitivityTranche99.90to100.00 Truth sensitivity tranche level at VSQ Lod: -8291.1535 <= x < -2.213
Table 3   VCF FORMAT Entries
Entry Description
GQX Minimum of {Genotype quality assuming variant position,Genotype quality assuming non-variant position}
AD Allelic depths for the ref and alt alleles in the order listed
DP Approximate read depth (reads with MQ=255 or with bad mates are filtered)
GQ Genotype Quality
GT Genotype
MQ RMS Mapping Quality
PL Normalized, Phred-scaled likelihoods for AA,AB,BB genotypes where A=ref and B=alt; not applicable if site is not biallelic
VF Variant Frequency, the ratio of the sum of the called variant depth to the total depth
Table 4   VCF INFO Entries
Entry Description
AC Allele count in genotypes, for each ALT allele, in the same order as listed
AF The allele frequency from all populations of 1000 genomes data
AN Total number of alleles in called genotypes
DP Approximate read depth; some reads may have been filtered
QD Variant Confidence/Quality by Depth
BLOCKAVG_min30p3a Non-variant site block. All sites in a block are constrained to be non-variant, have the same filter value, and have all sample values in range [x,y] , y <= max(x+3,(x*(1+0.3))). All printed site block sample values are the minimum observed in the region spanned by the block
BaseQRankSum Z-score from Wilcoxon rank sum test of Alt Vs. Ref base qualities
DS Were any of the samples downsampled?
Dels Fraction of Reads Containing Spanning Deletions
END End position of the region described in this record
FS Phred-scaled p-value using Fisher's exact test to detect strand bias
HRun Largest Contiguous Homopolymer Run of Variant Allele In Either Direction
HaplotypeScore Consistency of the site with at most two segregating haplotypes
MQ RMS Mapping Quality
MQ0 Total Mapping Quality Zero Reads
MQRankSum Z-score From Wilcoxon rank sum test of Alt vs. Ref read mapping qualities
ReadPosRankSum Z-score from Wilcoxon rank sum test of Alt vs. Ref read position bias
SB Strand Bias
VQSLOD Log odds ratio of being a true variant versus being false under the trained gaussian mixture model
culprit The annotation that was the worst performing in the Gaussian mixture model, likely the reason why the variant was filtered out
set Source VCF for the merged record in CombineVariants

 

 

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