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. 2017 Dec 30;7(4):gix134. doi: 10.1093/gigascience/gix134

Table 2:

Flags and parameters used in INFO field of VCF files in various HapMap 3 versions

Parameter 3.1.1 3.2.1 unimp 3.2.1 imp Description
DP + + + Total read depth at the site
NZ + + + Number of taxa with called genotypes
AD + + + Allelic depths (reference, alternative in order listed in ALT field)
AC + + + Numbers of alternative alleles in order listed in ALT field
AQ + + + Average allele base qualities (reference, alternative in order listed in ALT field) computed in HapMap 3.1.1 from 916 taxa
GN + + + Numbers of genotypes (AA,AB,BB or AA,AB,AC,BB,BC,CC if 2 alt alleles present)
HT + + + Number of heterozygotes
EF + + + EF = het_frequency/(presence_frequency*minor_allele_frequency); computed in HapMap 3.1.1 from 916 taxa
PV + + + P-value from segregation test, computed in HapMap 3.1.1 from 916 taxa
MAF + + + Minor allele frequency (summed up over all alternative alleles)
MAF0 - - + Minor allele frequency in unimputed HapMap 3.2.1
FH + - - Fraction of heterozygous taxa among the 506 taxa with more than 50% nonmissing genotypes on chr 10
FH2 + Site with FH greater than 2%
IBD1 + + + Only 1 allele present in IBD contrasts—based on 916 taxa of HapMap 3.1.1
LLD + + + Site in local LD with GBS map—based on 916 taxa of HapMap 3.1.1
NI5 + + + Indel or site within 5 bp of a putative indel—from 916 taxa of HapMap 3.1.1
INHMP311 - + + Site present in HapMap 3.1.1
ImpHomoAccuracy - - + Fraction of homozygotes imputed back into homozygotes
ImpMinorAccuracy - - + Fraction of minor allele homozygotes imputed back into minor allele homozygotes
DUP - - + Site with heterozygote frequency >3%—based on unimputed HapMap 3.2.1 genotypes

“+” and “-” indicate presence or absence, respectively, of a parameter or flag in a given version of HapMap. For example, “-++” means the parameter is present in the VCF file of both unimputed and imputed HapMap 3.2.1, and absent from HapMap 3.1.1. VCF files: Unless indicated otherwise, all parameters are computed from depths and genotypes in the current VCF file.