VCF version: 4.2
FILTER: ID=off-target (9x used) Description="Variant marked as 'off-target'."
INFO: ID=1000G_AF (135x used) Type=String Number=. Description="1000G global allele frequency (All populations)."
INFO: ID=AB (153x used) Type=Float Number=A Description="Allele balance at heterozygous sites: a number between 0 and 1 representing the ratio of reads showing the reference allele to all reads considering only reads from individuals called as heterozygous"
INFO: ID=ABP (153x used) Type=Float Number=A Description="Allele balance probability at heterozygous sites: Phred-scaled upper-bounds estimate of the probability of observing the deviation between ABR and ABA given E(ABR/ABA) ~ 0.5 derived using Hoeffding's inequality"
INFO: ID=AC (153x used) Type=Integer Number=A Description="Total number of alternate alleles in called genotypes"
INFO: ID=AF (153x used) Type=Float Number=A Description="Estimated allele frequency in the range (01]"
INFO: ID=AN (153x used) Type=Integer Number=1 Description="Total number of alleles in called genotypes"
INFO: ID=AO (153x used) Type=Integer Number=A Description="Alternate allele observations with partial observations recorded fractionally"
INFO: ID=CIGAR (153x used) Type=String Number=A Description="The extended CIGAR representation of each alternate allele per the spec) referred to by the CIGAR."
INFO: ID=CLINVAR_ACC (51x used) Type=String Number=. Description="ClinVar accession"
INFO: ID=CLINVAR_SIG (51x used) Type=String Number=. Description="ClinVar clinical significance"
INFO: ID=COSMIC_ID (73x used) Type=String Number=1 Description="COSMIC accession"
INFO: ID=CSQ (147x used) Type=String Number=. Description="Functional annotations: 'Allele|Consequence|IMPACT| Gene_Name | Gene_ID | Feature_Type | Feature_ID | Transcript_BioType | Rank | HGVS.c | HGVS.p | cDNA.pos / cDNA.length | CDS.pos / CDS.length | AA.pos / AA.length | Distance | ERRORS / WARNINGS / INFO' "
INFO: ID=DP (153x used) Type=Integer Number=1 Description="Total read depth at the locus"
INFO: ID=DPB (153x used) Type=Float Number=1 Description="Total read depth per bp at the locus; bases in reads overlapping / bases in haplotype"
INFO: ID=DPRA (153x used) Type=Float Number=A Description="Alternate allele depth ratio.  Ratio between depth in samples with each called alternate allele and those without."
INFO: ID=EPP (153x used) Type=Float Number=A Description="End Placement Probability: Phred-scaled upper-bounds estimate of the probability of observing the deviation between EL and ER given E(EL/ER) ~ 0.5 derived using Hoeffding's inequality"
INFO: ID=EPPR (153x used) Type=Float Number=1 Description="End Placement Probability for reference observations: Phred-scaled upper-bounds estimate of the probability of observing the deviation between EL and ER given E(EL/ER) ~ 0.5 derived using Hoeffding's inequality"
INFO: ID=ESP6500AA_AF (126x used) Type=String Number=1 Description="ESP6500 allele frequency (African American population)."
INFO: ID=ESP6500EA_AF (126x used) Type=String Number=1 Description="ESP6500 allele frequency (European American population)."
INFO: ID=EXAC_AF (144x used) Type=String Number=1 Description="ExAC global allele frequency (All populations)."
INFO: ID=GTI (153x used) Type=Integer Number=1 Description="Number of genotyping iterations required to reach convergence or bailout."
INFO: ID=HGMD_CLASS (35x used) Type=String Number=. Description="Mutation Category https://portal.biobase-international.com/hgmd/pro/global.php#cats "
INFO: ID=HGMD_GENE (35x used) Type=String Number=. Description="Gene symbol"
INFO: ID=HGMD_ID (35x used) Type=String Number=. Description="HGMD identifier(s)"
INFO: ID=HGMD_MUT (35x used) Type=String Number=. Description="HGMD mutant allele"
INFO: ID=HGMD_PHEN (35x used) Type=String Number=. Description="HGMD primary phenotype"
INFO: ID=LEN (153x used) Type=Integer Number=A Description="allele length"
INFO: ID=LOF (1x used) Type=String Number=. Description="Predicted loss of function effects for this variant. Format: 'Gene_Name | Gene_ID | Number_of_transcripts_in_gene | Percent_of_transcripts_affected' "
INFO: ID=MEANALT (153x used) Type=Float Number=A Description="Mean number of unique non-reference allele observations per sample with the corresponding alternate alleles."
INFO: ID=MQM (153x used) Type=Float Number=A Description="Mean mapping quality of observed alternate alleles"
INFO: ID=MQMR (153x used) Type=Float Number=1 Description="Mean mapping quality of observed reference alleles"
INFO: ID=NS (153x used) Type=Integer Number=1 Description="Number of samples with data"
INFO: ID=NUMALT (153x used) Type=Integer Number=1 Description="Number of unique non-reference alleles in called genotypes at this position."
INFO: ID=ODDS (153x used) Type=Float Number=1 Description="The log odds ratio of the best genotype combination to the second-best."
INFO: ID=OMIM (107x used) Type=String Number=. Description="Annotation from /mnt/share/data/dbs/OMIM/omim.bed delimited by ':'"
INFO: ID=PAIRED (153x used) Type=Float Number=A Description="Proportion of observed alternate alleles which are supported by properly paired read fragments"
INFO: ID=PAIREDR (153x used) Type=Float Number=1 Description="Proportion of observed reference alleles which are supported by properly paired read fragments"
INFO: ID=PAO (153x used) Type=Float Number=A Description="Alternate allele observations with partial observations recorded fractionally"
INFO: ID=PQA (153x used) Type=Float Number=A Description="Alternate allele quality sum in phred for partial observations"
INFO: ID=PQR (153x used) Type=Float Number=1 Description="Reference allele quality sum in phred for partial observations"
INFO: ID=PRO (153x used) Type=Float Number=1 Description="Reference allele observation count with partial observations recorded fractionally"
INFO: ID=QA (153x used) Type=Integer Number=A Description="Alternate allele quality sum in phred"
INFO: ID=QR (153x used) Type=Integer Number=1 Description="Reference allele quality sum in phred"
INFO: ID=REPEATMASKER (4x used) Type=String Number=1 Description="Annotation from /mnt/share/data/dbs/RepeatMasker/RepeatMasker.bed delimited by ':'"
INFO: ID=RO (153x used) Type=Integer Number=1 Description="Reference allele observation count with partial observations recorded fractionally"
INFO: ID=RPL (153x used) Type=Float Number=A Description="Reads Placed Left: number of reads supporting the alternate balanced to the left (5') of the alternate allele"
INFO: ID=RPP (153x used) Type=Float Number=A Description="Read Placement Probability: Phred-scaled upper-bounds estimate of the probability of observing the deviation between RPL and RPR given E(RPL/RPR) ~ 0.5 derived using Hoeffding's inequality"
INFO: ID=RPPR (153x used) Type=Float Number=1 Description="Read Placement Probability for reference observations: Phred-scaled upper-bounds estimate of the probability of observing the deviation between RPL and RPR given E(RPL/RPR) ~ 0.5 derived using Hoeffding's inequality"
INFO: ID=RPR (153x used) Type=Float Number=A Description="Reads Placed Right: number of reads supporting the alternate balanced to the right (3') of the alternate allele"
INFO: ID=RUN (153x used) Type=Integer Number=A Description="Run length: the number of consecutive repeats of the alternate allele in the reference genome"
INFO: ID=SAF (153x used) Type=Integer Number=A Description="Number of alternate observations on the forward strand"
INFO: ID=SAP (153x used) Type=Float Number=A Description="Strand balance probability for the alternate allele: Phred-scaled upper-bounds estimate of the probability of observing the deviation between SAF and SAR given E(SAF/SAR) ~ 0.5 derived using Hoeffding's inequality"
INFO: ID=SAR (153x used) Type=Integer Number=A Description="Number of alternate observations on the reverse strand"
INFO: ID=SOMATIC (0x used) Type=Flag Number=0 Description="If the variant is somatic."
INFO: ID=SRF (153x used) Type=Integer Number=1 Description="Number of reference observations on the forward strand"
INFO: ID=SRP (153x used) Type=Float Number=1 Description="Strand balance probability for the reference allele: Phred-scaled upper-bounds estimate of the probability of observing the deviation between SRF and SRR given E(SRF/SRR) ~ 0.5 derived using Hoeffding's inequality"
INFO: ID=SRR (153x used) Type=Integer Number=1 Description="Number of reference observations on the reverse strand"
INFO: ID=TYPE (153x used) Type=String Number=A Description="The type of allele either snp mnp ins del or complex."
INFO: ID=dbNSFP_MutationTaster_pred (59x used) Type=Character Number=. Description="Field 'MutationTaster_pred' from dbNSFP"
INFO: ID=dbNSFP_Polyphen2_HDIV_pred (54x used) Type=Character Number=. Description="Field 'Polyphen2_HDIV_pred' from dbNSFP"
INFO: ID=dbNSFP_Polyphen2_HVAR_pred (54x used) Type=Character Number=. Description="Field 'Polyphen2_HVAR_pred' from dbNSFP"
INFO: ID=dbNSFP_SIFT_pred (51x used) Type=Character Number=. Description="Field 'SIFT_pred' from dbNSFP"
INFO: ID=dbNSFP_phyloP100way_vertebrate (59x used) Type=Float Number=. Description="Field 'phyloP100way_vertebrate' from dbNSFP"
INFO: ID=technology.ILLUMINA (153x used) Type=Float Number=A Description="Fraction of observations supporting the alternate observed in reads from ILLUMINA"
FORMAT: ID=AO (156x used) Type=Integer Number=A Description="Alternate allele observation count"
FORMAT: ID=DP (156x used) Type=Integer Number=1 Description="Read Depth"
FORMAT: ID=GL (156x used) Type=Float Number=G Description="Genotype Likelihood log10-scaled likelihoods of the data given the called genotype for each possible genotype generated from the reference and alternate alleles given the sample ploidy"
FORMAT: ID=GT (156x used) Type=String Number=1 Description="Genotype"
FORMAT: ID=QA (156x used) Type=Integer Number=A Description="Sum of quality of the alternate observations"
FORMAT: ID=QR (156x used) Type=Integer Number=1 Description="Sum of quality of the reference observations"
FORMAT: ID=RO (156x used) Type=Integer Number=1 Description="Reference allele observation count"
SAMPLE: NA12878
Finished - checked 248 lines - 156 data lines.
