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added output files for decompose_blocksub
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| decompose_blocksub v0.5 | ||
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| options: input VCF file <stripped> | ||
| [o] output VCF file <stripped> | ||
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| stats: no. variants : 1 | ||
| no. biallelic block substitutions : 1 | ||
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| no. additional SNPs : 2 | ||
| no. variants after decomposition : 2 | ||
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| Time elapsed <stripped> | ||
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| Original file line number | Diff line number | Diff line change |
|---|---|---|
| @@ -0,0 +1,66 @@ | ||
| ##fileformat=VCFv4.1 | ||
| ##FILTER=<ID=PASS,Description="All filters passed"> | ||
| ##FORMAT=<ID=AO,Number=A,Type=Integer,Description="Alternate allele observation count"> | ||
| ##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth"> | ||
| ##FORMAT=<ID=GL,Number=G,Type=Float,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=GQ,Number=1,Type=Integer,Description="Genotype Quality"> | ||
| ##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> | ||
| ##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification"> | ||
| ##FORMAT=<ID=QA,Number=A,Type=Integer,Description="Sum of quality of the alternate observations"> | ||
| ##FORMAT=<ID=QR,Number=1,Type=Integer,Description="Sum of quality of the reference observations"> | ||
| ##FORMAT=<ID=RO,Number=1,Type=Integer,Description="Reference allele observation count"> | ||
| ##INFO=<ID=AB,Number=A,Type=Float,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,Number=A,Type=Float,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,Number=A,Type=Integer,Description="Total number of alternate alleles in called genotypes"> | ||
| ##INFO=<ID=AF,Number=A,Type=Float,Description="Estimated allele frequency in the range (0,1]"> | ||
| ##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> | ||
| ##INFO=<ID=ANN,Number=1,Type=String,Description="Functional annotations:'Allele|Annotation|Annotation_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=AO,Number=A,Type=Integer,Description="Alternate allele observations, with partial observations recorded fractionally"> | ||
| ##INFO=<ID=CIGAR,Number=A,Type=String,Description="The extended CIGAR representation of each alternate allele, with the exception that '=' is replaced by 'M' to ease VCF parsing. Note that INDEL alleles do not have the first matched base (which is provided by default, per the spec) referred to by the CIGAR."> | ||
| ##INFO=<ID=DP,Number=1,Type=Integer,Description="Total read depth at the locus"> | ||
| ##INFO=<ID=DPB,Number=1,Type=Float,Description="Total read depth per bp at the locus; bases in reads overlapping / bases in haplotype"> | ||
| ##INFO=<ID=DPRA,Number=A,Type=Float,Description="Alternate allele depth ratio. Ratio between depth in samples with each called alternate allele and those without."> | ||
| ##INFO=<ID=EPP,Number=A,Type=Float,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,Number=1,Type=Float,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=GTI,Number=1,Type=Integer,Description="Number of genotyping iterations required to reach convergence or bailout."> | ||
| ##INFO=<ID=LEN,Number=A,Type=Integer,Description="allele length"> | ||
| ##INFO=<ID=MEANALT,Number=A,Type=Float,Description="Mean number of unique non-reference allele observations per sample with the corresponding alternate alleles."> | ||
| ##INFO=<ID=MQM,Number=A,Type=Float,Description="Mean mapping quality of observed alternate alleles"> | ||
| ##INFO=<ID=MQMR,Number=1,Type=Float,Description="Mean mapping quality of observed reference alleles"> | ||
| ##INFO=<ID=NS,Number=1,Type=Integer,Description="Number of samples with data"> | ||
| ##INFO=<ID=NUMALT,Number=1,Type=Integer,Description="Number of unique non-reference alleles in called genotypes at this position."> | ||
| ##INFO=<ID=ODDS,Number=1,Type=Float,Description="The log odds ratio of the best genotype combination to the second-best."> | ||
| ##INFO=<ID=OLD_VARIANT,Number=1,Type=String,Description="Original chr:pos:ref:alt encoding"> | ||
| ##INFO=<ID=PAIRED,Number=A,Type=Float,Description="Proportion of observed alternate alleles which are supported by properly paired read fragments"> | ||
| ##INFO=<ID=PAIREDR,Number=1,Type=Float,Description="Proportion of observed reference alleles which are supported by properly paired read fragments"> | ||
| ##INFO=<ID=PAO,Number=A,Type=Float,Description="Alternate allele observations, with partial observations recorded fractionally"> | ||
| ##INFO=<ID=PQA,Number=A,Type=Float,Description="Alternate allele quality sum in phred for partial observations"> | ||
| ##INFO=<ID=PQR,Number=1,Type=Float,Description="Reference allele quality sum in phred for partial observations"> | ||
| ##INFO=<ID=PRO,Number=1,Type=Float,Description="Reference allele observation count, with partial observations recorded fractionally"> | ||
| ##INFO=<ID=QA,Number=A,Type=Integer,Description="Alternate allele quality sum in phred"> | ||
| ##INFO=<ID=QR,Number=1,Type=Integer,Description="Reference allele quality sum in phred"> | ||
| ##INFO=<ID=RO,Number=1,Type=Integer,Description="Reference allele observation count, with partial observations recorded fractionally"> | ||
| ##INFO=<ID=RPL,Number=A,Type=Float,Description="Reads Placed Left: number of reads supporting the alternate balanced to the left (5') of the alternate allele"> | ||
| ##INFO=<ID=RPP,Number=A,Type=Float,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,Number=1,Type=Float,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,Number=A,Type=Float,Description="Reads Placed Right: number of reads supporting the alternate balanced to the right (3') of the alternate allele"> | ||
| ##INFO=<ID=RUN,Number=A,Type=Integer,Description="Run length: the number of consecutive repeats of the alternate allele in the reference genome"> | ||
| ##INFO=<ID=SAF,Number=A,Type=Integer,Description="Number of alternate observations on the forward strand"> | ||
| ##INFO=<ID=SAP,Number=A,Type=Float,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,Number=A,Type=Integer,Description="Number of alternate observations on the reverse strand"> | ||
| ##INFO=<ID=SRF,Number=1,Type=Integer,Description="Number of reference observations on the forward strand"> | ||
| ##INFO=<ID=SRP,Number=1,Type=Float,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,Number=1,Type=Integer,Description="Number of reference observations on the reverse strand"> | ||
| ##INFO=<ID=TYPE,Number=A,Type=String,Description="The type of allele, either snp, mnp, ins, del, or complex."> | ||
| ##INFO=<ID=technology.Illumina,Number=A,Type=Float,Description="Fraction of observations supporting the alternate observed in reads from Illumina"> | ||
| ##INFO=<ID=CNT,Number=1,Type=Integer,Description="How many samples have this mutation"> | ||
| ##INFO=<ID=STRAND,Number=1,Type=String,Description="Gene strand"> | ||
| ##INFO=<ID=CDS,Number=1,Type=String,Description="CDS annotation"> | ||
| ##INFO=<ID=GENE,Number=1,Type=String,Description="Gene name"> | ||
| ##INFO=<ID=AA,Number=1,Type=String,Description="Peptide annotation"> | ||
| ##INFO=<ID=SNP,Number=0,Type=Flag,Description="classified as SNP"> | ||
| ##contig=<ID=1> | ||
| ##INFO=<ID=OLD_CLUMPED,Number=1,Type=String,Description="Original chr:pos:ref:alt encoding"> | ||
| #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT tumor normal | ||
| 1 159031 . A G 0.04 . AB=0;ABP=0;AC=2;AF=0.5;AN=4;AO=2;CIGAR=1M2D6M;DP=3;DPB=2.55556;DPRA=2;EPP=7.35324;EPPR=5.18177;GTI=0;LEN=2;MEANALT=1;MQM=5;MQMR=47;NS=2;NUMALT=1;ODDS=5.01064;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=10;QR=36;RO=1;RPL=2;RPP=7.35324;RPPR=5.18177;RPR=0;RUN=1;SAF=0;SAP=7.35324;SAR=2;SRF=0;SRP=5.18177;SRR=1;TYPE=del;technology.Illumina=1;OLD_CLUMPED=1:159030:TAACCTTTC/TGACCTTTT GT:AO:DP:GQ:PL:QA:QR:RO 0/0:0:1:22:0,3,36:0:36:1 1/1:2:2:0:10,6,0:10:0:0 | ||
| 1 159038 . C T 0.04 . AB=0;ABP=0;AC=2;AF=0.5;AN=4;AO=2;CIGAR=1M2D6M;DP=3;DPB=2.55556;DPRA=2;EPP=7.35324;EPPR=5.18177;GTI=0;LEN=2;MEANALT=1;MQM=5;MQMR=47;NS=2;NUMALT=1;ODDS=5.01064;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=10;QR=36;RO=1;RPL=2;RPP=7.35324;RPPR=5.18177;RPR=0;RUN=1;SAF=0;SAP=7.35324;SAR=2;SRF=0;SRP=5.18177;SRR=1;TYPE=del;technology.Illumina=1;OLD_CLUMPED=1:159030:TAACCTTTC/TGACCTTTT GT:AO:DP:GQ:PL:QA:QR:RO 0/0:0:1:22:0,3,36:0:36:1 1/1:2:2:0:10,6,0:10:0:0 |
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| Original file line number | Diff line number | Diff line change |
|---|---|---|
| @@ -0,0 +1,15 @@ | ||
| decompose_blocksub v0.5 | ||
|
|
||
| options: input VCF file <stripped> | ||
| [o] output VCF file <stripped> | ||
| [a] align/aggressive mode true | ||
|
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|
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| stats: no. variants : 1 | ||
| no. biallelic block substitutions : 1 | ||
|
|
||
| no. additional SNPs : 2 | ||
| no. variants after decomposition : 2 | ||
|
|
||
| Time elapsed <stripped> | ||
|
|
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
| Original file line number | Diff line number | Diff line change |
|---|---|---|
| @@ -0,0 +1,66 @@ | ||
| ##fileformat=VCFv4.1 | ||
| ##FILTER=<ID=PASS,Description="All filters passed"> | ||
| ##FORMAT=<ID=AO,Number=A,Type=Integer,Description="Alternate allele observation count"> | ||
| ##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth"> | ||
| ##FORMAT=<ID=GL,Number=G,Type=Float,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=GQ,Number=1,Type=Integer,Description="Genotype Quality"> | ||
| ##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> | ||
| ##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification"> | ||
| ##FORMAT=<ID=QA,Number=A,Type=Integer,Description="Sum of quality of the alternate observations"> | ||
| ##FORMAT=<ID=QR,Number=1,Type=Integer,Description="Sum of quality of the reference observations"> | ||
| ##FORMAT=<ID=RO,Number=1,Type=Integer,Description="Reference allele observation count"> | ||
| ##INFO=<ID=AB,Number=A,Type=Float,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,Number=A,Type=Float,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,Number=A,Type=Integer,Description="Total number of alternate alleles in called genotypes"> | ||
| ##INFO=<ID=AF,Number=A,Type=Float,Description="Estimated allele frequency in the range (0,1]"> | ||
| ##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> | ||
| ##INFO=<ID=ANN,Number=1,Type=String,Description="Functional annotations:'Allele|Annotation|Annotation_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=AO,Number=A,Type=Integer,Description="Alternate allele observations, with partial observations recorded fractionally"> | ||
| ##INFO=<ID=CIGAR,Number=A,Type=String,Description="The extended CIGAR representation of each alternate allele, with the exception that '=' is replaced by 'M' to ease VCF parsing. Note that INDEL alleles do not have the first matched base (which is provided by default, per the spec) referred to by the CIGAR."> | ||
| ##INFO=<ID=DP,Number=1,Type=Integer,Description="Total read depth at the locus"> | ||
| ##INFO=<ID=DPB,Number=1,Type=Float,Description="Total read depth per bp at the locus; bases in reads overlapping / bases in haplotype"> | ||
| ##INFO=<ID=DPRA,Number=A,Type=Float,Description="Alternate allele depth ratio. Ratio between depth in samples with each called alternate allele and those without."> | ||
| ##INFO=<ID=EPP,Number=A,Type=Float,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,Number=1,Type=Float,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=GTI,Number=1,Type=Integer,Description="Number of genotyping iterations required to reach convergence or bailout."> | ||
| ##INFO=<ID=LEN,Number=A,Type=Integer,Description="allele length"> | ||
| ##INFO=<ID=MEANALT,Number=A,Type=Float,Description="Mean number of unique non-reference allele observations per sample with the corresponding alternate alleles."> | ||
| ##INFO=<ID=MQM,Number=A,Type=Float,Description="Mean mapping quality of observed alternate alleles"> | ||
| ##INFO=<ID=MQMR,Number=1,Type=Float,Description="Mean mapping quality of observed reference alleles"> | ||
| ##INFO=<ID=NS,Number=1,Type=Integer,Description="Number of samples with data"> | ||
| ##INFO=<ID=NUMALT,Number=1,Type=Integer,Description="Number of unique non-reference alleles in called genotypes at this position."> | ||
| ##INFO=<ID=ODDS,Number=1,Type=Float,Description="The log odds ratio of the best genotype combination to the second-best."> | ||
| ##INFO=<ID=OLD_VARIANT,Number=1,Type=String,Description="Original chr:pos:ref:alt encoding"> | ||
| ##INFO=<ID=PAIRED,Number=A,Type=Float,Description="Proportion of observed alternate alleles which are supported by properly paired read fragments"> | ||
| ##INFO=<ID=PAIREDR,Number=1,Type=Float,Description="Proportion of observed reference alleles which are supported by properly paired read fragments"> | ||
| ##INFO=<ID=PAO,Number=A,Type=Float,Description="Alternate allele observations, with partial observations recorded fractionally"> | ||
| ##INFO=<ID=PQA,Number=A,Type=Float,Description="Alternate allele quality sum in phred for partial observations"> | ||
| ##INFO=<ID=PQR,Number=1,Type=Float,Description="Reference allele quality sum in phred for partial observations"> | ||
| ##INFO=<ID=PRO,Number=1,Type=Float,Description="Reference allele observation count, with partial observations recorded fractionally"> | ||
| ##INFO=<ID=QA,Number=A,Type=Integer,Description="Alternate allele quality sum in phred"> | ||
| ##INFO=<ID=QR,Number=1,Type=Integer,Description="Reference allele quality sum in phred"> | ||
| ##INFO=<ID=RO,Number=1,Type=Integer,Description="Reference allele observation count, with partial observations recorded fractionally"> | ||
| ##INFO=<ID=RPL,Number=A,Type=Float,Description="Reads Placed Left: number of reads supporting the alternate balanced to the left (5') of the alternate allele"> | ||
| ##INFO=<ID=RPP,Number=A,Type=Float,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,Number=1,Type=Float,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,Number=A,Type=Float,Description="Reads Placed Right: number of reads supporting the alternate balanced to the right (3') of the alternate allele"> | ||
| ##INFO=<ID=RUN,Number=A,Type=Integer,Description="Run length: the number of consecutive repeats of the alternate allele in the reference genome"> | ||
| ##INFO=<ID=SAF,Number=A,Type=Integer,Description="Number of alternate observations on the forward strand"> | ||
| ##INFO=<ID=SAP,Number=A,Type=Float,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,Number=A,Type=Integer,Description="Number of alternate observations on the reverse strand"> | ||
| ##INFO=<ID=SRF,Number=1,Type=Integer,Description="Number of reference observations on the forward strand"> | ||
| ##INFO=<ID=SRP,Number=1,Type=Float,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,Number=1,Type=Integer,Description="Number of reference observations on the reverse strand"> | ||
| ##INFO=<ID=TYPE,Number=A,Type=String,Description="The type of allele, either snp, mnp, ins, del, or complex."> | ||
| ##INFO=<ID=technology.Illumina,Number=A,Type=Float,Description="Fraction of observations supporting the alternate observed in reads from Illumina"> | ||
| ##INFO=<ID=CNT,Number=1,Type=Integer,Description="How many samples have this mutation"> | ||
| ##INFO=<ID=STRAND,Number=1,Type=String,Description="Gene strand"> | ||
| ##INFO=<ID=CDS,Number=1,Type=String,Description="CDS annotation"> | ||
| ##INFO=<ID=GENE,Number=1,Type=String,Description="Gene name"> | ||
| ##INFO=<ID=AA,Number=1,Type=String,Description="Peptide annotation"> | ||
| ##INFO=<ID=SNP,Number=0,Type=Flag,Description="classified as SNP"> | ||
| ##contig=<ID=1> | ||
| ##INFO=<ID=OLD_CLUMPED,Number=1,Type=String,Description="Original chr:pos:ref:alt encoding"> | ||
| #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT tumor normal | ||
| 1 159030 . T TG 0.04 . AB=0;ABP=0;AC=2;AF=0.5;AN=4;AO=2;CIGAR=1M2D6M;DP=3;DPB=2.55556;DPRA=2;EPP=7.35324;EPPR=5.18177;GTI=0;LEN=2;MEANALT=1;MQM=5;MQMR=47;NS=2;NUMALT=1;ODDS=5.01064;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=10;QR=36;RO=1;RPL=2;RPP=7.35324;RPPR=5.18177;RPR=0;RUN=1;SAF=0;SAP=7.35324;SAR=2;SRF=0;SRP=5.18177;SRR=1;TYPE=del;technology.Illumina=1;OLD_CLUMPED=1:159030:TACCTTTC/TGACCTTTT GT:AO:DP:GQ:PL:QA:QR:RO 0/0:0:1:22:0,3,36:0:36:1 1/1:2:2:0:10,6,0:10:0:0 | ||
| 1 159037 . C T 0.04 . AB=0;ABP=0;AC=2;AF=0.5;AN=4;AO=2;CIGAR=1M2D6M;DP=3;DPB=2.55556;DPRA=2;EPP=7.35324;EPPR=5.18177;GTI=0;LEN=2;MEANALT=1;MQM=5;MQMR=47;NS=2;NUMALT=1;ODDS=5.01064;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=10;QR=36;RO=1;RPL=2;RPP=7.35324;RPPR=5.18177;RPR=0;RUN=1;SAF=0;SAP=7.35324;SAR=2;SRF=0;SRP=5.18177;SRR=1;TYPE=del;technology.Illumina=1;OLD_CLUMPED=1:159030:TACCTTTC/TGACCTTTT GT:AO:DP:GQ:PL:QA:QR:RO 0/0:0:1:22:0,3,36:0:36:1 1/1:2:2:0:10,6,0:10:0:0 |