Mercurial > repos > youngkim > ezbamqc
diff ezBAMQC/src/htslib/vcf.5 @ 0:dfa3745e5fd8
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author | youngkim |
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date | Thu, 24 Mar 2016 17:12:52 -0400 |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/ezBAMQC/src/htslib/vcf.5 Thu Mar 24 17:12:52 2016 -0400 @@ -0,0 +1,120 @@ +'\" t +.TH vcf 5 "August 2013" "htslib" "Bioinformatics formats" +.SH NAME +vcf \- Variant Call Format +.\" +.\" Copyright (C) 2011 Broad Institute. +.\" Copyright (C) 2013 Genome Research Ltd. +.\" +.\" Author: Heng Li <lh3@sanger.ac.uk> +.\" +.\" Permission is hereby granted, free of charge, to any person obtaining a +.\" copy of this software and associated documentation files (the "Software"), +.\" to deal in the Software without restriction, including without limitation +.\" the rights to use, copy, modify, merge, publish, distribute, sublicense, +.\" and/or sell copies of the Software, and to permit persons to whom the +.\" Software is furnished to do so, subject to the following conditions: +.\" +.\" The above copyright notice and this permission notice shall be included in +.\" all copies or substantial portions of the Software. +.\" +.\" THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, EXPRESS OR +.\" IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF MERCHANTABILITY, +.\" FITNESS FOR A PARTICULAR PURPOSE AND NONINFRINGEMENT. IN NO EVENT SHALL +.\" THE AUTHORS OR COPYRIGHT HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER +.\" LIABILITY, WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING +.\" FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR OTHER +.\" DEALINGS IN THE SOFTWARE. +.\" +.SH DESCRIPTION +The Variant Call Format (VCF) is a TAB-delimited format with each data line +consisting of the following fields: +.TS +nlbl. +1 CHROM CHROMosome name +2 POS the left-most POSition of the variant +3 ID unique variant IDentifier +4 REF the REFerence allele +5 ALT the ALTernate allele(s) (comma-separated) +6 QUAL variant/reference QUALity +7 FILTER FILTERs applied +8 INFO INFOrmation related to the variant (semicolon-separated) +9 FORMAT FORMAT of the genotype fields (optional; colon-separated) +10+ SAMPLE SAMPLE genotypes and per-sample information (optional) +.TE +.P +The following table gives the \fBINFO\fP tags used by samtools and bcftools. +.TP +.B AF1 +Max-likelihood estimate of the site allele frequency (AF) of the first ALT allele +(double) +.TP +.B DP +Raw read depth (without quality filtering) +(int) +.TP +.B DP4 +# high-quality reference forward bases, ref reverse, alternate for and alt rev bases +(int[4]) +.TP +.B FQ +Consensus quality. Positive: sample genotypes different; negative: otherwise +(int) +.TP +.B MQ +Root-Mean-Square mapping quality of covering reads +(int) +.TP +.B PC2 +Phred probability of AF in group1 samples being larger (,smaller) than in group2 +(int[2]) +.TP +.B PCHI2 +Posterior weighted chi^2 P-value between group1 and group2 samples +(double) +.TP +.B PV4 +P-value for strand bias, baseQ bias, mapQ bias and tail distance bias +(double[4]) +.TP +.B QCHI2 +Phred-scaled PCHI2 +(int) +.TP +.B RP +# permutations yielding a smaller PCHI2 +(int) +.TP +.B CLR +Phred log ratio of genotype likelihoods with and without the trio/pair constraint +(int) +.TP +.B UGT +Most probable genotype configuration without the trio constraint +(string) +.TP +.B CGT +Most probable configuration with the trio constraint +(string) +.TP +.B VDB +Tests variant positions within reads. Intended for filtering RNA-seq artifacts around splice sites +(float) +.TP +.B RPB +Mann-Whitney rank-sum test for tail distance bias +(float) +.TP +.B HWE +Hardy-Weinberg equilibrium test (Wigginton et al) +(float) +.P +.SH SEE ALSO +.TP +https://github.com/samtools/hts-specs +The full VCF/BCF file format specification +.TP +.I A note on exact tests of Hardy-Weinberg equilibrium +Wigginton JE et al +PMID:15789306 +.\" (http://www.ncbi.nlm.nih.gov/pubmed/15789306)