jvarkit
VCFComposite
(in developpement) Finds Variants involved in a Het Compound Disease
Usage
This program is now part of the main jvarkit tool. See jvarkit for compiling.
Usage: java -jar dist/jvarkit.jar vcfcomposite [options] Files
Usage: vcfcomposite [options] Files
Options:
--bcf-output
If this program writes a VCF to a file, The format is first guessed from
the file suffix. Otherwise, force BCF output. The current supported BCF
version is : 2.1 which is not compatible with bcftools/htslib (last
checked 2019-11-15)
Default: false
-e, -E, --extractors
Gene Extractors Name. Space/semicolon/Comma separated. custom:tag is a
custom extractor extracting all the values for INFO/tag as one or more
gene name
Default: ANN/GeneId VEP/GeneId
--filter
[20180718] set FILTER for the variants that are not part of a composite
mutation. Blank = filter out non-composites
Default: NOT_COMPOSITE
--generate-vcf-md5
Generate MD5 checksum for VCF output.
Default: false
-g, --genes
Optional tabular text report for genes
-gf, --genotype-filter
A Java EXpression Language (JEXL) expressions to filter a genotye in a
VCF. Empty string will accept all genotypes. Expression returning a TRUE
will accept the genotypes. See
https://gatkforums.broadinstitute.org/gatk/discussion/1255
Default: <empty string> (ACCEPT ALL)
-h, --help
print help and exit
--helpFormat
What kind of help. One of [usage,markdown,xml].
-l, --list
list all available gene extractors
-max, --max, --max-variants
[20180718] Max variants per gene. If different than -1, used to set a
maximum number of variants per gene; The idea is to filter out the gene
having a large number of variants.
Default: -1
--maxRecordsInRam
When writing files that need to be sorted, this will specify the number
of records stored in RAM before spilling to disk. Increasing this number
reduces the number of file handles needed to sort a file, and increases
the amount of RAM needed
Default: 50000
-u, --one-unaffected-het
There must be at least one **Unaffected** sample with a HET Genotype for
a given variant.
Default: false
-o, --out
Output file. Optional . Default: stdout
* -p, -ped, --pedigree
A pedigree file. tab delimited. Columns: family,id,father,mother,
sex:(0|.|undefined|unknown:unknown;1|male|M:male;2|female|F:female),
phenotype
(-9|?|.:unknown;1|affected|case:affected;0|unaffected|control:unaffected)
-r, --report
Optional tabular text report for pairs of variants
-a, --select-pair
How to select a pair of variants : any: at least one affected sample
must be carried by variant1 and variant2 all: all affected samples be
carried by variant1 and variant2
Default: any
Possible Values: [any, all]
-s, --select-variant
How to select affected samples for *one* variant. This variant will be
later challenged with another variant of the same gene. any: at least
one affected sample must be HET for the variant all: all affected
samples must be HET for the variant.
Default: any
Possible Values: [any, all]
--tmpDir
tmp working directory. Default: java.io.tmpDir
Default: []
-vf, --variant-filter
A Java EXpression Language (JEXL) expressions to filter the variants
from a VCF. Empty string will accept all variants. Expression returning
a TRUE will accept the variant. See
https://gatk.broadinstitute.org/hc/en-us/articles/360035891011
Default: <empty string> (ACCEPT ALL)
--version
print version and exit
Keywords
- vcf
- disease
- annotation
- pedigree
- haplotype
Creation Date
20170331
Source code
Unit Tests
Contribute
- Issue Tracker: http://github.com/lindenb/jvarkit/issues
- Source Code: http://github.com/lindenb/jvarkit
License
The project is licensed under the MIT license.
Citing
Should you cite vcfcomposite ? https://github.com/mr-c/shouldacite/blob/master/should-I-cite-this-software.md
The current reference is:
http://dx.doi.org/10.6084/m9.figshare.1425030
Lindenbaum, Pierre (2015): JVarkit: java-based utilities for Bioinformatics. figshare. http://dx.doi.org/10.6084/m9.figshare.1425030
Input
input is a VCF file annotated with SNPEff or VEP.
Example
$ cat jeter.ped
X S1 S2 S3 0 1
X S2 0 0 0 0
X S3 0 0 0 0
$ java -jar dist/jvarkit.jar vcfcomposite -r report.txt -g gene.txt -p jeter.ped src/test/resources/rotavirus_rf.ann.vcf.gz --filter "" | grep -v "##"
[WARN][VepPredictionParser]NO INFO[CSQ] found in header. This VCF was probably NOT annotated with VEP. But it's not a problem if this tool doesn't need to access VEP Annotations.
[INFO][VCFComposite]reading variants and genes
[INFO][VCFComposite]compile per gene
[INFO][VCFComposite]write variants
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT S1 S2 S3 S4 S5
RF02 877 . T A 3.45 PASS AC=1;AN=10;ANN=A|missense_variant|MODERATE|UniProtKB/Swiss-Prot:P12472|UniProtKB/Swiss-Prot:P12472|transcript|CAA32213.1|protein_coding|1/1|c.861T>A|p.Asn287Lys|861/2643|861/2643|287/880||,A|upstream_gene_variant|MODIFIER|Gene_1621_1636|Gene_1621_1636|transcript|CAA32214.1|protein_coding||c.-745T>A|||||745|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|UniProtKB/Swiss-Prot:P12472|UniProtKB/Swiss-Prot:P12472|transcript|CAA32215.1|protein_coding||c.-1132T>A|||||1132|WARNING_TRANSCRIPT_NO_START_CODON;BQB=1;COMPOSITE=gene|Gene_1621_1636|source|ANN_GeneId|pos|1962|ref|TACA|sample|S1,gene|UniProtKB/Swiss-Prot:P12472|source|ANN_GeneId|pos|1962|ref|TACA|sample|S1;DP=46;DP4=19,21,4,2;HOB=0.02;ICB=0.0439024;MQ=60;MQ0F=0;MQB=1;MQSB=1;RPB=0.841693;SGB=-7.90536;VDB=0.479322 GT:PL 0/1:37,0,50 0/0:0,22,116 0/0:0,22,116 0/0:0,21,94 0/0:0,12,62
RF02 1962 . TACA TA 33.43 PASS AC=1;AN=10;ANN=TA|frameshift_variant|HIGH|UniProtKB/Swiss-Prot:P12472|UniProtKB/Swiss-Prot:P12472|transcript|CAA32213.1|protein_coding|1/1|c.1948_1949delCA|p.His650fs|1948/2643|1948/2643|650/880||,TA|upstream_gene_variant|MODIFIER|UniProtKB/Swiss-Prot:P12472|UniProtKB/Swiss-Prot:P12472|transcript|CAA32215.1|protein_coding||c.-45_-44delCA|||||45|WARNING_TRANSCRIPT_NO_START_CODON,TA|downstream_gene_variant|MODIFIER|Gene_1621_1636|Gene_1621_1636|transcript|CAA32214.1|protein_coding||c.*327_*328delCA|||||327|WARNING_TRANSCRIPT_INCOMPLETE;COMPOSITE=gene|Gene_1621_1636|source|ANN_GeneId|pos|877|ref|T|sample|S1,gene|UniProtKB/Swiss-Prot:P12472|source|ANN_GeneId|pos|877|ref|T|sample|S1;DP=43;DP4=22,11,2,0;HOB=0.02;ICB=0.0439024;IDV=3;IMF=0.3;INDEL;LOF=(UniProtKB/Swiss-Prot:P12472|UniProtKB/Swiss-Prot:P12472|2|0.50);MQ=60;MQ0F=0;MQSB=1;SGB=0.810227;VDB=0.373246 GT:PL 0/1:70,0,159 0/0:0,15,225 0/0:0,15,225 0/0:0,27,231 0/0:0,27,168
RF04 887 . A G 5.31 PASS AC=1;AN=10;ANN=G|missense_variant|MODERATE|Gene_9_2339|Gene_9_2339|transcript|AAB07453.1|protein_coding|1/1|c.878A>G|p.Glu293Gly|878/2331|878/2331|293/776||;BQB=1;COMPOSITE=gene|Gene_9_2339|source|ANN_GeneId|pos|1857|ref|CAGA|sample|S1;DP=48;DP4=16,28,3,1;HOB=0.02;ICB=0.0439024;MQ=60;MQ0F=0;MQB=1;MQSB=1;RPB=0.90467;SGB=3.91248;VDB=0.811811 GT:PL 0/1:40,0,28 0/0:0,24,98 0/0:0,24,98 0/0:0,33,120 0/0:0,42,134
RF04 1857 . CAGA CA 39.47 PASS AC=1;AN=10;ANN=CA|frameshift_variant|HIGH|Gene_9_2339|Gene_9_2339|transcript|AAB07453.1|protein_coding|1/1|c.1850_1851delGA|p.Arg617fs|1850/2331|1850/2331|617/776||;COMPOSITE=gene|Gene_9_2339|source|ANN_GeneId|pos|887|ref|A|sample|S1;DP=45;DP4=12,21,1,1;HOB=0.02;ICB=0.0439024;IDV=2;IMF=0.166667;INDEL;LOF=(Gene_9_2339|Gene_9_2339|1|1.00);MQ=60;MQ0F=0;MQSB=1;SGB=0.810227;VDB=0.969947 GT:PL 0/1:76,0,152 0/0:0,18,194 0/0:0,18,194 0/0:0,15,166 0/0:0,33,255
$ column -t gene.txt
#CHROM bed.start bed.end gene.key gene.label gene.source affected.counts affected.total affected.samples
RF02 876 1965 Gene_1621_1636 Gene_1621_1636 ANN_GeneId 1 1 S1
RF04 886 1860 Gene_9_2339 Gene_9_2339 ANN_GeneId 1 1 S1
RF02 876 1965 UniProtKB/Swiss-Prot:P12472 UniProtKB/Swiss-Prot:P12472 ANN_GeneId 1 1 S1
$ verticalize report.txt
>>> 2
$1 #CHROM : RF02
$2 bed.start : 876
$3 bed.end : 1965
$4 count.variants.in.gene : 2
$5 gene.key : Gene_1621_1636
$6 gene.label : Gene_1621_1636
$7 gene.source : ANN_GeneId
$8 variant1.start : 877
$9 variant1.end : 877
$10 variant1.ref : T
$11 variant1.alt : A
$12 variant1.info : ANN=A|missense_variant|MODERATE|UniProtKB/Swiss-Prot:P12472|UniProtKB/Swiss-Prot:P12472|transcript|CAA32213.1|protein_coding|1/1|c.861T>A|p.Asn287Lys|861/2643|861/2643|287/880||,A|upstream_gene_variant|MODIFIER|Gene_1621_1636|Gene_1621_1636|transcript|CAA32214.1|protein_coding||c.-745T>A|||||745|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|UniProtKB/Swiss-Prot:P12472|UniProtKB/Swiss-Prot:P12472|transcript|CAA32215.1|protein_coding||c.-1132T>A|||||1132|WARNING_TRANSCRIPT_NO_START_CODON
$13 variant1.gt[S1].affected : HET
$14 variant1.gt[S2].unaffected : HOM_REF
$15 variant1.gt[S3].unaffected : HOM_REF
$16 variant2.start : 1962
$17 variant2.end : 1965
$18 variant2.ref : TACA
$19 variant2.alt : TA
$20 variant2.info : ANN=TA|frameshift_variant|HIGH|UniProtKB/Swiss-Prot:P12472|UniProtKB/Swiss-Prot:P12472|transcript|CAA32213.1|protein_coding|1/1|c.1948_1949delCA|p.His650fs|1948/2643|1948/2643|650/880||,TA|upstream_gene_variant|MODIFIER|UniProtKB/Swiss-Prot:P12472|UniProtKB/Swiss-Prot:P12472|transcript|CAA32215.1|protein_coding||c.-45_-44delCA|||||45|WARNING_TRANSCRIPT_NO_START_CODON,TA|downstream_gene_variant|MODIFIER|Gene_1621_1636|Gene_1621_1636|transcript|CAA32214.1|protein_coding||c.*327_*328delCA|||||327|WARNING_TRANSCRIPT_INCOMPLETE
$21 variant2.gt[S1].affected : HET
$22 variant2.gt[S2].unaffected : HOM_REF
$23 variant2.gt[S3].unaffected : HOM_REF
<<< 2
>>> 3
$1 #CHROM : RF04
$2 bed.start : 886
$3 bed.end : 1860
$4 count.variants.in.gene : 2
$5 gene.key : Gene_9_2339
$6 gene.label : Gene_9_2339
$7 gene.source : ANN_GeneId
$8 variant1.start : 887
$9 variant1.end : 887
$10 variant1.ref : A
$11 variant1.alt : G
$12 variant1.info : ANN=G|missense_variant|MODERATE|Gene_9_2339|Gene_9_2339|transcript|AAB07453.1|protein_coding|1/1|c.878A>G|p.Glu293Gly|878/2331|878/2331|293/776||
$13 variant1.gt[S1].affected : HET
$14 variant1.gt[S2].unaffected : HOM_REF
$15 variant1.gt[S3].unaffected : HOM_REF
$16 variant2.start : 1857
$17 variant2.end : 1860
$18 variant2.ref : CAGA
$19 variant2.alt : CA
$20 variant2.info : ANN=CA|frameshift_variant|HIGH|Gene_9_2339|Gene_9_2339|transcript|AAB07453.1|protein_coding|1/1|c.1850_1851delGA|p.Arg617fs|1850/2331|1850/2331|617/776||
$21 variant2.gt[S1].affected : HET
$22 variant2.gt[S2].unaffected : HOM_REF
$23 variant2.gt[S3].unaffected : HOM_REF
<<< 3
>>> 4
$1 #CHROM : RF02
$2 bed.start : 876
$3 bed.end : 1965
$4 count.variants.in.gene : 2
$5 gene.key : UniProtKB/Swiss-Prot:P12472
$6 gene.label : UniProtKB/Swiss-Prot:P12472
$7 gene.source : ANN_GeneId
$8 variant1.start : 877
$9 variant1.end : 877
$10 variant1.ref : T
$11 variant1.alt : A
$12 variant1.info : ANN=A|missense_variant|MODERATE|UniProtKB/Swiss-Prot:P12472|UniProtKB/Swiss-Prot:P12472|transcript|CAA32213.1|protein_coding|1/1|c.861T>A|p.Asn287Lys|861/2643|861/2643|287/880||,A|upstream_gene_variant|MODIFIER|Gene_1621_1636|Gene_1621_1636|transcript|CAA32214.1|protein_coding||c.-745T>A|||||745|WARNING_TRANSCRIPT_INCOMPLETE,A|upstream_gene_variant|MODIFIER|UniProtKB/Swiss-Prot:P12472|UniProtKB/Swiss-Prot:P12472|transcript|CAA32215.1|protein_coding||c.-1132T>A|||||1132|WARNING_TRANSCRIPT_NO_START_CODON
$13 variant1.gt[S1].affected : HET
$14 variant1.gt[S2].unaffected : HOM_REF
$15 variant1.gt[S3].unaffected : HOM_REF
$16 variant2.start : 1962
$17 variant2.end : 1965
$18 variant2.ref : TACA
$19 variant2.alt : TA
$20 variant2.info : ANN=TA|frameshift_variant|HIGH|UniProtKB/Swiss-Prot:P12472|UniProtKB/Swiss-Prot:P12472|transcript|CAA32213.1|protein_coding|1/1|c.1948_1949delCA|p.His650fs|1948/2643|1948/2643|650/880||,TA|upstream_gene_variant|MODIFIER|UniProtKB/Swiss-Prot:P12472|UniProtKB/Swiss-Prot:P12472|transcript|CAA32215.1|protein_coding||c.-45_-44delCA|||||45|WARNING_TRANSCRIPT_NO_START_CODON,TA|downstream_gene_variant|MODIFIER|Gene_1621_1636|Gene_1621_1636|transcript|CAA32214.1|protein_coding||c.*327_*328delCA|||||327|WARNING_TRANSCRIPT_INCOMPLETE
$21 variant2.gt[S1].affected : HET
$22 variant2.gt[S2].unaffected : HOM_REF
$23 variant2.gt[S3].unaffected : HOM_REF
<<< 4