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Allow duplicate positions in both VCF and the TAB file with `call -C …
…alleles`. Fixes samtools#915
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Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -0,0 +1,31 @@ | ||
##fileformat=VCFv4.2 | ||
##FILTER=<ID=PASS,Description="All filters passed"> | ||
##reference=hs37d5.fa | ||
##contig=<ID=6,length=171115067> | ||
##ALT=<ID=*,Description="Represents allele(s) other than observed."> | ||
##INFO=<ID=INDEL,Number=0,Type=Flag,Description="Indicates that the variant is an INDEL."> | ||
##INFO=<ID=IDV,Number=1,Type=Integer,Description="Maximum number of raw reads supporting an indel"> | ||
##INFO=<ID=IMF,Number=1,Type=Float,Description="Maximum fraction of raw reads supporting an indel"> | ||
##INFO=<ID=DP,Number=1,Type=Integer,Description="Raw read depth"> | ||
##INFO=<ID=VDB,Number=1,Type=Float,Description="Variant Distance Bias for filtering splice-site artefacts in RNA-seq data (bigger is better)",Version="3"> | ||
##INFO=<ID=RPB,Number=1,Type=Float,Description="Mann-Whitney U test of Read Position Bias (bigger is better)"> | ||
##INFO=<ID=MQB,Number=1,Type=Float,Description="Mann-Whitney U test of Mapping Quality Bias (bigger is better)"> | ||
##INFO=<ID=BQB,Number=1,Type=Float,Description="Mann-Whitney U test of Base Quality Bias (bigger is better)"> | ||
##INFO=<ID=MQSB,Number=1,Type=Float,Description="Mann-Whitney U test of Mapping Quality vs Strand Bias (bigger is better)"> | ||
##INFO=<ID=SGB,Number=1,Type=Float,Description="Segregation based metric."> | ||
##INFO=<ID=MQ0F,Number=1,Type=Float,Description="Fraction of MQ0 reads (smaller is better)"> | ||
##FORMAT=<ID=PL,Number=G,Type=Integer,Description="List of Phred-scaled genotype likelihoods"> | ||
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Number of high-quality bases"> | ||
##FORMAT=<ID=SP,Number=1,Type=Integer,Description="Phred-scaled strand bias P-value"> | ||
##FORMAT=<ID=AD,Number=R,Type=Integer,Description="Allelic depths"> | ||
##FORMAT=<ID=ADF,Number=R,Type=Integer,Description="Allelic depths on the forward strand"> | ||
##FORMAT=<ID=ADR,Number=R,Type=Integer,Description="Allelic depths on the reverse strand"> | ||
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> | ||
##INFO=<ID=ICB,Number=1,Type=Float,Description="Inbreeding Coefficient Binomial test (bigger is better)"> | ||
##INFO=<ID=HOB,Number=1,Type=Float,Description="Bias in the number of HOMs number (smaller is better)"> | ||
##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes for each ALT allele, in the same order as listed"> | ||
##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> | ||
##INFO=<ID=DP4,Number=4,Type=Integer,Description="Number of high-quality ref-forward , ref-reverse, alt-forward and alt-reverse bases"> | ||
##INFO=<ID=MQ,Number=1,Type=Integer,Description="Average mapping quality"> | ||
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878 | ||
6 263708 . CTT C,CT 280 . DP=211;MQSB=0.901445;MQ0F=0;AC=0,0;AN=2;DP4=117,27,0,0;MQ=57 GT:PL:DP:SP:ADF:ADR:AD 0/0:0,255,255,255,255,255:144:0:117,0,0:27,0,0:144,0,0 |
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Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -0,0 +1 @@ | ||
6 263708 CTT,C,CT |
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Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -0,0 +1,26 @@ | ||
##fileformat=VCFv4.2 | ||
##reference=hs37d5.fa | ||
##contig=<ID=6,length=171115067> | ||
##ALT=<ID=*,Description="Represents allele(s) other than observed."> | ||
##INFO=<ID=INDEL,Number=0,Type=Flag,Description="Indicates that the variant is an INDEL."> | ||
##INFO=<ID=IDV,Number=1,Type=Integer,Description="Maximum number of raw reads supporting an indel"> | ||
##INFO=<ID=IMF,Number=1,Type=Float,Description="Maximum fraction of raw reads supporting an indel"> | ||
##INFO=<ID=DP,Number=1,Type=Integer,Description="Raw read depth"> | ||
##INFO=<ID=VDB,Number=1,Type=Float,Description="Variant Distance Bias for filtering splice-site artefacts in RNA-seq data (bigger is better)",Version="3"> | ||
##INFO=<ID=RPB,Number=1,Type=Float,Description="Mann-Whitney U test of Read Position Bias (bigger is better)"> | ||
##INFO=<ID=MQB,Number=1,Type=Float,Description="Mann-Whitney U test of Mapping Quality Bias (bigger is better)"> | ||
##INFO=<ID=BQB,Number=1,Type=Float,Description="Mann-Whitney U test of Base Quality Bias (bigger is better)"> | ||
##INFO=<ID=MQSB,Number=1,Type=Float,Description="Mann-Whitney U test of Mapping Quality vs Strand Bias (bigger is better)"> | ||
##INFO=<ID=SGB,Number=1,Type=Float,Description="Segregation based metric."> | ||
##INFO=<ID=MQ0F,Number=1,Type=Float,Description="Fraction of MQ0 reads (smaller is better)"> | ||
##INFO=<ID=I16,Number=16,Type=Float,Description="Auxiliary tag used for calling, see description of bcf_callret1_t in bam2bcf.h"> | ||
##INFO=<ID=QS,Number=R,Type=Float,Description="Auxiliary tag used for calling"> | ||
##FORMAT=<ID=PL,Number=G,Type=Integer,Description="List of Phred-scaled genotype likelihoods"> | ||
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Number of high-quality bases"> | ||
##FORMAT=<ID=SP,Number=1,Type=Integer,Description="Phred-scaled strand bias P-value"> | ||
##FORMAT=<ID=AD,Number=R,Type=Integer,Description="Allelic depths"> | ||
##FORMAT=<ID=ADF,Number=R,Type=Integer,Description="Allelic depths on the forward strand"> | ||
##FORMAT=<ID=ADR,Number=R,Type=Integer,Description="Allelic depths on the reverse strand"> | ||
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878 | ||
6 263708 . C <*> 0 . DP=211;I16=117,27,0,0,4635,154411,0,0,8284,486348,0,0,2730,59520,0,0;QS=1,0;MQSB=0.901445;MQ0F=0 PL:DP:SP:ADF:ADR:AD 0,255,255:144:0:117,0:27,0:144,0 | ||
6 263708 . CTTTTTTTTTTTTTT CTTTTTTTTTTTTT,CTTTTTTTTTTTTTTT,CTTTTTTTTTTTT 0 . INDEL;IDV=27;IMF=0.127358;DP=212;I16=100,83,20,9,3133,71279,800,23372,10402,608546,1663,97179,3447,74011,628,14310;QS=0.84686,0.0839802,0.0494001,0.0197601;VDB=0.0105186;SGB=-0.693079;MQSB=0.971475;MQ0F=0 PL:DP:SP:ADF:ADR:AD 0,255,39,255,51,39,255,74,57,39:212:8:100,12,7,1:83,5,3,1:183,17,10,2 |
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Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -0,0 +1,22 @@ | ||
##fileformat=VCFv4.2 | ||
##FILTER=<ID=PASS,Description="All filters passed"> | ||
##reference=file://grch37.chr20.fa.gz | ||
##contig=<ID=1,length=249250621> | ||
##contig=<ID=16,length=249250621> | ||
##contig=<ID=17,length=249250621> | ||
##contig=<ID=20,length=249250621> | ||
##contig=<ID=21,length=249250621> | ||
##ALT=<ID=*,Description="Represents allele(s) other than observed."> | ||
##INFO=<ID=DP,Number=1,Type=Integer,Description="Raw read depth"> | ||
##INFO=<ID=MQ0F,Number=1,Type=Float,Description="Fraction of MQ0 reads (smaller is better)"> | ||
##FORMAT=<ID=PL,Number=G,Type=Integer,Description="List of Phred-scaled genotype likelihoods"> | ||
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> | ||
##INFO=<ID=ICB,Number=1,Type=Float,Description="Inbreeding Coefficient Binomial test (bigger is better)"> | ||
##INFO=<ID=HOB,Number=1,Type=Float,Description="Bias in the number of HOMs number (smaller is better)"> | ||
##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes for each ALT allele, in the same order as listed"> | ||
##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> | ||
##INFO=<ID=DP4,Number=4,Type=Integer,Description="Number of high-quality ref-forward , ref-reverse, alt-forward and alt-reverse bases"> | ||
##INFO=<ID=MQ,Number=1,Type=Integer,Description="Average mapping quality"> | ||
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT sample | ||
1 1368833 . T C 39.5768 . DP=1;MQ0F=0;AC=0;AN=2;DP4=0,1,0,0;MQ=60 GT:PL 0/0:0,3,13 | ||
1 1368833 . TAAAAAAAAAAAAAAAA TAAAAAAAAAAAAAA 24.1741 . DP=2;AC=0;AN=2;DP4=0,1,1,0;MQ=60 GT:PL 0/0:6,0,6 |
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---|---|---|
@@ -0,0 +1,18 @@ | ||
1 1368828 GT,G | ||
1 1368833 TAA,T | ||
1 1368833 T,C | ||
1 1368833 T,G | ||
1 1368834 A,T | ||
16 60288 C,A | ||
17 355 G,A | ||
20 58799 T,C | ||
20 58799 T,C | ||
20 68800 A,G | ||
20 68810 G,A | ||
20 69066 C,G | ||
20 69094 G,A | ||
20 69408 C,T | ||
21 9411409 T,C | ||
21 9411485 C,A | ||
21 9411497 A,G | ||
21 9412485 C,G |
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Original file line number | Diff line number | Diff line change |
---|---|---|
@@ -0,0 +1,17 @@ | ||
##fileformat=VCFv4.2 | ||
##FILTER=<ID=PASS,Description="All filters passed"> | ||
##reference=file://grch37.chr20.fa.gz | ||
##contig=<ID=1,length=249250621> | ||
##contig=<ID=16,length=249250621> | ||
##contig=<ID=17,length=249250621> | ||
##contig=<ID=20,length=249250621> | ||
##contig=<ID=21,length=249250621> | ||
##ALT=<ID=*,Description="Represents allele(s) other than observed."> | ||
##INFO=<ID=DP,Number=1,Type=Integer,Description="Raw read depth"> | ||
##INFO=<ID=MQ0F,Number=1,Type=Float,Description="Fraction of MQ0 reads (smaller is better)"> | ||
##INFO=<ID=I16,Number=16,Type=Float,Description="Auxiliary tag used for calling, see description of bcf_callret1_t in bam2bcf.h"> | ||
##INFO=<ID=QS,Number=R,Type=Float,Description="Auxiliary tag used for calling"> | ||
##FORMAT=<ID=PL,Number=G,Type=Integer,Description="List of Phred-scaled genotype likelihoods"> | ||
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT sample | ||
1 1368833 . T <*> 0 . DP=1;I16=0,1,0,0,13,169,0,0,60,3600,0,0,3,9,0,0;QS=1,0;MQ0F=0 PL 0,3,13 | ||
1 1368833 . TAAAAAAAAAAAAAAAA TAAAAAAAAAAAAAA 0 . DP=2;I16=0,1,1,0,10,100,30,900,60,3600,60,3600,3,9,25,625;QS=0.5,0.5 PL 6,0,6 |
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