Created
April 19, 2017 13:32
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HCC2218 validation comparisons, alternative breakends
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##fileformat=VCFv4.2 | |
##FILTER=<ID=PASS,Description="All filters passed"> | |
##fileDate=20170404 | |
##source=CNVkit v0.8.5 | |
##INFO=<ID=CIEND,Number=2,Type=Integer,Description="Confidence interval around END for imprecise variants"> | |
##INFO=<ID=CIPOS,Number=2,Type=Integer,Description="Confidence interval around POS for imprecise variants"> | |
##INFO=<ID=END,Number=1,Type=Integer,Description="End position of the variant described in this record"> | |
##INFO=<ID=IMPRECISE,Number=0,Type=Flag,Description="Imprecise structural variation"> | |
##INFO=<ID=SVLEN,Number=1,Type=Integer,Description="Difference in length between REF and ALT alleles"> | |
##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant"> | |
##INFO=<ID=FOLD_CHANGE,Number=1,Type=Float,Description="Fold change"> | |
##INFO=<ID=FOLD_CHANGE_LOG,Number=1,Type=Float,Description="Log fold change"> | |
##INFO=<ID=PROBES,Number=1,Type=Integer,Description="Number of probes in CNV"> | |
##ALT=<ID=DEL,Description="Deletion"> | |
##ALT=<ID=DUP,Description="Duplication"> | |
##ALT=<ID=CNV,Description="Copy number variable region"> | |
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> | |
##FORMAT=<ID=GQ,Number=1,Type=Float,Description="Genotype quality"> | |
##FORMAT=<ID=CN,Number=1,Type=Integer,Description="Copy number genotype for imprecise events"> | |
##FORMAT=<ID=CNQ,Number=1,Type=Float,Description="Copy number genotype quality for imprecise events"> | |
##contig=<ID=1> | |
##contig=<ID=2> | |
##contig=<ID=3> | |
##contig=<ID=4> | |
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##contig=<ID=10> | |
##contig=<ID=11> | |
##contig=<ID=12> | |
##contig=<ID=13> | |
##contig=<ID=14> | |
##contig=<ID=16> | |
##contig=<ID=17> | |
##contig=<ID=19> | |
##contig=<ID=20> | |
##contig=<ID=X> | |
##contig=<ID=Y> | |
##contig=<ID=MT> | |
##bcftools_viewVersion=1.4+htslib-1.4 | |
##bcftools_viewCommand=view -R region.bed HCC2218-cnvkit.vcf.gz; Date=Tue Apr 18 21:30:15 2017 | |
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT HCC2218C | |
1 142574851 . N <DUP> . . IMPRECISE;SVTYPE=DUP;END=152080129;SVLEN=9505278;FOLD_CHANGE=2.24898;FOLD_CHANGE_LOG=1.16927;PROBES=1413 GT:GQ:CN:CNQ 0/1:0:5:1413 | |
1 152080129 . N <DUP> . . IMPRECISE;SVTYPE=DUP;END=152081622;SVLEN=1493;FOLD_CHANGE=4.18347;FOLD_CHANGE_LOG=2.0647;PROBES=1 GT:GQ:CN:CNQ 0/1:0:9:1 | |
1 152081622 . N <DUP> . . IMPRECISE;SVTYPE=DUP;END=152085284;SVLEN=3662;FOLD_CHANGE=4.18347;FOLD_CHANGE_LOG=2.0647;PROBES=2 GT:GQ:CN:CNQ 0/1:0:9:2 | |
1 152085284 . N <DUP> . . IMPRECISE;SVTYPE=DUP;END=155533359;SVLEN=3448075;FOLD_CHANGE=2.2421;FOLD_CHANGE_LOG=1.16485;PROBES=1044 GT:GQ:CN:CNQ 0/1:0:5:1044 | |
1 155579976 . N <DUP> . . IMPRECISE;SVTYPE=DUP;END=201293894;SVLEN=45713918;FOLD_CHANGE=1.46397;FOLD_CHANGE_LOG=0.549888;PROBES=379 GT:GQ:CN:CNQ 0/1:0:3:379 |
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##fileformat=VCFv4.2 | |
##FILTER=<ID=PASS,Description="All filters passed"> | |
##ALT=<ID=INV,Description="Inversion"> | |
##FILTER=<ID=ASSEMBLY_ONLY,Description="Variant is supported only by assembly evidence."> | |
##FILTER=<ID=ASSEMBLY_TOO_FEW_READ,Description="Not enough reads contribute to this assembly as specified by 'assembly.minReads'"> | |
##FILTER=<ID=ASSEMBLY_TOO_SHORT,Description="This assembly is shorter than a read length"> | |
##FILTER=<ID=LOW_BREAKPOINT_SUPPORT,Description="Does not reach the required threshold quality for calling as specified by 'variantcalling.minScore'"> | |
##FILTER=<ID=LOW_QUAL,Description="Low quality call as specified by 'variantcalling.lowQuality'"> | |
##FILTER=<ID=NO_ASSEMBLY,Description="No assembly supporting this variant could be found."> | |
##FILTER=<ID=REF,Description="Breakpoint corresponds to reference allele"> | |
##FILTER=<ID=SINGLE_ASSEMBLY,Description="Only one side of the breakpoint could be assembled."> | |
##FILTER=<ID=SINGLE_SUPPORT,Description="Supported by a single read or read pair only."> | |
##FILTER=<ID=SMALL_EVENT,Description="Event size is smaller than the minimum reportable size specified by 'variantcalling.minSize'"> | |
##FORMAT=<ID=ASQ,Number=1,Type=Float,Description="Pro-rata quality score contribution of assemblies supporting breakpoint"> | |
##FORMAT=<ID=ASRP,Number=1,Type=Integer,Description="Count of read pairs incorporated into any breakpoint assembly"> | |
##FORMAT=<ID=ASSR,Number=1,Type=Integer,Description="Count of split, soft clipped or indel-containing reads incorporated into any breakpoint assemblies"> | |
##FORMAT=<ID=BAQ,Number=1,Type=Float,Description="Pro-rata quality score contribution of assemblies supporting just local breakend"> | |
##FORMAT=<ID=BQ,Number=1,Type=Float,Description="Quality score of breakend evidence after evidence reallocation"> | |
##FORMAT=<ID=BSC,Number=1,Type=Integer,Description="Count of soft clips supporting just local breakend per category"> | |
##FORMAT=<ID=BSCQ,Number=1,Type=Float,Description="Quality score of soft clips supporting just local breakend per category"> | |
##FORMAT=<ID=BUM,Number=1,Type=Integer,Description="Count of read pairs (with one read unmapped) supporting just local breakend per category"> | |
##FORMAT=<ID=BUMQ,Number=1,Type=Float,Description="Quality score of read pairs (with one read unmapped) supporting just local breakend per category"> | |
##FORMAT=<ID=CASQ,Number=1,Type=Float,Description="Pro-rata quality score of complex compound breakpoint assemblies supporting breakpoint from elsewhere"> | |
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> | |
##FORMAT=<ID=IC,Number=1,Type=Integer,Description="Count of read indels supporting breakpoint per category"> | |
##FORMAT=<ID=IQ,Number=1,Type=Float,Description="Quality score of read indels supporting breakpoint per category"> | |
##FORMAT=<ID=QUAL,Number=1,Type=Float,Description="Quality score of breakend evidence after evidence reallocation"> | |
##FORMAT=<ID=RASQ,Number=1,Type=Float,Description="Pro-rata quality score contribution of assemblies supporting breakpoint from remote breakend"> | |
##FORMAT=<ID=REF,Number=1,Type=Integer,Description="Count of reads mapping across this breakend"> | |
##FORMAT=<ID=REFPAIR,Number=1,Type=Integer,Description="Count of reference read pairs spanning this breakpoint supporting the reference allele"> | |
##FORMAT=<ID=RP,Number=1,Type=Integer,Description="Count of read pairs supporting breakpoint per category"> | |
##FORMAT=<ID=RPQ,Number=1,Type=Float,Description="Quality score of read pairs supporting breakpoint per category"> | |
##FORMAT=<ID=SR,Number=1,Type=Integer,Description="Count of split reads supporting breakpoint per category"> | |
##FORMAT=<ID=SRQ,Number=1,Type=Float,Description="Quality score of split reads supporting breakpoint per category"> | |
##INFO=<ID=AS,Number=1,Type=Integer,Description="Count of assemblies supporting breakpoint"> | |
##INFO=<ID=ASQ,Number=1,Type=Float,Description="Quality score of assemblies supporting breakpoint"> | |
##INFO=<ID=ASRP,Number=1,Type=Integer,Description="Count of read pairs incorporated into any breakpoint assembly"> | |
##INFO=<ID=ASSR,Number=1,Type=Integer,Description="Count of split, soft clipped or indel-containing reads incorporated into any breakpoint assemblies"> | |
##INFO=<ID=BA,Number=1,Type=Integer,Description="Count of assemblies supporting just local breakend"> | |
##INFO=<ID=BAQ,Number=1,Type=Float,Description="Quality score of assemblies supporting just local breakend"> | |
##INFO=<ID=BEID,Number=.,Type=String,Description="Breakend assemblies contributing support to the breakpoint."> | |
##INFO=<ID=BQ,Number=1,Type=Float,Description="Quality score of breakend evidence"> | |
##INFO=<ID=BSC,Number=1,Type=Integer,Description="Count of soft clips supporting just local breakend"> | |
##INFO=<ID=BSCQ,Number=1,Type=Float,Description="Quality score of soft clips supporting just local breakend"> | |
##INFO=<ID=BUM,Number=1,Type=Integer,Description="Count of read pairs (with one read unmapped) supporting just local breakend"> | |
##INFO=<ID=BUMQ,Number=1,Type=Float,Description="Quality score of read pairs (with one read unmapped) supporting just local breakend"> | |
##INFO=<ID=CAS,Number=1,Type=Integer,Description="Count of complex compound breakpoint assemblies supporting breakpoint from elsewhere"> | |
##INFO=<ID=CASQ,Number=1,Type=Float,Description="Quality score of complex compound breakpoint assemblies supporting breakpoint from elsewhere"> | |
##INFO=<ID=CIEND,Number=2,Type=Integer,Description="Confidence interval around END for imprecise variants"> | |
##INFO=<ID=CIPOS,Number=2,Type=Integer,Description="Confidence interval around POS for imprecise variants"> | |
##INFO=<ID=CIRPOS,Number=2,Type=Integer,Description="Confidence interval around remote breakend POS for imprecise variants"> | |
##INFO=<ID=CQ,Number=1,Type=Float,Description="Breakpoint quality score before evidence reallocation"> | |
##INFO=<ID=END,Number=1,Type=Integer,Description="Stop position of the interval"> | |
##INFO=<ID=EVENT,Number=1,Type=String,Description="ID of event associated to breakend"> | |
##INFO=<ID=HOMLEN,Number=.,Type=Integer,Description="Length of base pair identical micro-homology at event breakpoints"> | |
##INFO=<ID=HOMSEQ,Number=.,Type=String,Description="Sequence of base pair identical micro-homology at event breakpoints"> | |
##INFO=<ID=IC,Number=1,Type=Integer,Description="Count of read indels supporting breakpoint"> | |
##INFO=<ID=IHOMPOS,Number=2,Type=Integer,Description="Position of inexact homology"> | |
##INFO=<ID=IMPRECISE,Number=0,Type=Flag,Description="Imprecise structural variation"> | |
##INFO=<ID=IQ,Number=1,Type=Float,Description="Quality score of read indels supporting breakpoint"> | |
##INFO=<ID=PARID,Number=1,Type=String,Description="ID of partner breakend"> | |
##INFO=<ID=RAS,Number=1,Type=Integer,Description="Count of assemblies supporting breakpoint from remote breakend"> | |
##INFO=<ID=RASQ,Number=1,Type=Float,Description="Quality score of assemblies supporting breakpoint from remote breakend"> | |
##INFO=<ID=REF,Number=1,Type=Integer,Description="Count of reads mapping across this breakend"> | |
##INFO=<ID=REFPAIR,Number=1,Type=Integer,Description="Count of reference read pairs spanning this breakpoint supporting the reference allele"> | |
##INFO=<ID=RP,Number=1,Type=Integer,Description="Count of read pairs supporting breakpoint"> | |
##INFO=<ID=RPQ,Number=1,Type=Float,Description="Quality score of read pairs supporting breakpoint"> | |
##INFO=<ID=RSI,Number=.,Type=Integer,Description="Support interval offsets of partner breakend."> | |
##INFO=<ID=SC,Number=1,Type=String,Description="CIGAR for displaying anchoring alignment of any contributing evidence and microhomologies."> | |
##INFO=<ID=SELF,Number=0,Type=Flag,Description="Indicates a breakpoint is self-intersecting"> | |
##INFO=<ID=SI,Number=.,Type=Integer,Description="Support interval offsets from breakend position in which at least one supporting read/read pair/assembly is mapped."> | |
##INFO=<ID=SR,Number=1,Type=Integer,Description="Count of split reads supporting breakpoint"> | |
##INFO=<ID=SRQ,Number=1,Type=Float,Description="Quality score of split reads supporting breakpoint"> | |
##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="Difference in length between REF and ALT alleles"> | |
##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant"> | |
##contig=<ID=1,length=249250621> | |
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##bcftools_viewVersion=1.4+htslib-1.4 | |
##bcftools_viewCommand=view -f PASS,. HCC2218-gridss.sv.vcf.gz; Date=Tue Apr 18 21:20:41 2017 | |
##bcftools_viewCommand=view -R region.bed HCC2218-gridss.vcf.gz; Date=Tue Apr 18 21:30:15 2017 | |
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT HCC2218C HCC2218BL | |
1 145293573 gridss14_754o G G[1:145293633[ 1289.19 . AS=1;ASQ=393.7;ASRP=68;ASSR=0;BA=0;BAQ=0;BEID=asm14-1786,asm14-6577;BQ=593.95;BSC=0;BSCQ=0;BUM=24;BUMQ=593.95;CAS=0;CASQ=0;CIPOS=-23,24;CIRPOS=-23,24;CQ=1289.19;EVENT=gridss14_754;IC=0;IMPRECISE;IQ=0;PARID=gridss14_754h;RAS=1;RASQ=798.85;REF=2394;REFPAIR=491;RP=13;RPQ=96.63;SC=548M1X46N1X;SR=0;SRQ=0;SVTYPE=BND GT:ASQ:ASRP:ASSR:BAQ:BQ:BSC:BSCQ:BUM:BUMQ:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ .:182.25:37:0:0:235.18:0:0:9:235.18:0:0:0:698.83:465.06:1691:264:7:51.51:0:0 .:211.45:31:0:0:358.78:0:0:15:358.78:0:0:0:590.36:333.79:703:227:6:45.12:0:0 | |
1 145293633 gridss14_754h T ]1:145293573]T 1289.19 . AS=1;ASQ=798.85;ASRP=68;ASSR=0;BA=0;BAQ=0;BEID=asm14-1786,asm14-6577;BQ=784.16;BSC=0;BSCQ=0;BUM=32;BUMQ=784.16;CAS=0;CASQ=0;CIPOS=-23,24;CIRPOS=-23,24;CQ=1289.19;EVENT=gridss14_754;IC=0;IMPRECISE;IQ=0;PARID=gridss14_754o;RAS=1;RASQ=393.7;REF=866;REFPAIR=332;RP=13;RPQ=96.63;SC=1X46N1X386M;SR=0;SRQ=0;SVTYPE=BND GT:ASQ:ASRP:ASSR:BAQ:BQ:BSC:BSCQ:BUM:BUMQ:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ .:465.06:37:0:0:412.32:0:0:16:412.32:0:0:0:698.83:182.25:609:159:7:51.51:0:0 .:333.79:31:0:0:371.83:0:0:16:371.83:0:0:0:590.36:211.45:257:173:6:45.12:0:0 | |
1 150691451 gridss15_909o T T[1:150691786[ 6864.91 . AS=2;ASQ=2413.2;ASRP=127;ASSR=234;BA=0;BAQ=0;BEID=asm15-1309,asm15-1318,asm15-14293;BQ=293.75;BSC=21;BSCQ=293.75;BUM=0;BUMQ=0;CAS=0;CASQ=0;CIPOS=-16,0;CIRPOS=-16,0;CQ=6864.91;EVENT=gridss15_909;HOMLEN=16;HOMSEQ=AGAATTCTCAATTAAT;IC=0;IHOMPOS=-16,0;IQ=0;PARID=gridss15_909h;RAS=1;RASQ=2332.09;REF=0;REFPAIR=7;RP=65;RPQ=482.29;SC=380M1X15N1X;SR=97;SRQ=1637.33;SVTYPE=BND GT:ASQ:ASRP:ASSR:BAQ:BQ:BSC:BSCQ:BUM:BUMQ:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ .:1644.82:91:154:0:208.51:15:208.51:0:0:0:0:0:4629.44:1555.67:0:0:45:331.99:64:1096.96 .:768.38:36:80:0:85.24:6:85.24:0:0:0:0:0:2235.47:776.42:0:7:20:150.3:33:540.36 | |
1 150691786 gridss15_909h T ]1:150691451]T 6677.55 . AS=1;ASQ=2332.09;ASRP=127;ASSR=234;BA=0;BAQ=0;BEID=asm15-1309,asm15-1318,asm15-14293;BQ=422.41;BSC=30;BSCQ=422.41;BUM=0;BUMQ=0;CAS=0;CASQ=0;CIPOS=-16,0;CIRPOS=-16,0;CQ=6864.91;EVENT=gridss15_909;HOMLEN=16;HOMSEQ=AGAATTCTCAATTAAT;IC=0;IHOMPOS=-16,0;IQ=0;PARID=gridss15_909o;RAS=2;RASQ=2413.2;REF=7;REFPAIR=36;RP=65;RPQ=482.29;SC=1X15N1X549M;SR=86;SRQ=1449.96;SVTYPE=BND GT:ASQ:ASRP:ASSR:BAQ:BQ:BSC:BSCQ:BUM:BUMQ:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ .:1555.67:91:154:0:264.76:19:264.76:0:0:0:0:0:4491.39:1644.82:3:0:45:331.99:56:958.92 .:776.42:36:80:0:157.64:11:157.64:0:0:0:0:0:2186.15:768.38:4:36:20:150.3:30:491.04 | |
1 153742534 gridss15_2440o G G[1:153742567[ 712.65 . AS=1;ASQ=241.82;ASRP=0;ASSR=18;BA=0;BAQ=0;BEID=asm15-18206,asm15-5424;BQ=58.45;BSC=2;BSCQ=34.39;BUM=1;BUMQ=24.06;CAS=0;CASQ=0;CIPOS=0,11;CIRPOS=0,11;CQ=712.65;EVENT=gridss15_2440;HOMLEN=11;HOMSEQ=GTGTGTGTGTG;IC=2;IHOMPOS=0,13;IQ=117.07;PARID=gridss15_2440h;RAS=1;RASQ=242.77;REF=13;REFPAIR=4;RP=0;RPQ=0;SC=78M1X10N1X;SR=6;SRQ=110.99;SVTYPE=BND GT:ASQ:ASRP:ASSR:BAQ:BQ:BSC:BSCQ:BUM:BUMQ:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ .:137.7:0:7:0:20.63:1:20.63:0:0:0:2:117.07:427.82:152.41:3:0:0:0:1:20.63 .:104.11:0:11:0:37.81:1:13.76:1:24.06:0:0:0:284.82:90.36:10:4:0:0:5:90.36 | |
1 153742567 gridss15_2440h G ]1:153742534]G 712.65 . AS=1;ASQ=242.77;ASRP=0;ASSR=18;BA=0;BAQ=0;BEID=asm15-18206,asm15-5424;BQ=86.87;BSC=1;BSCQ=14.71;BUM=3;BUMQ=72.17;CAS=0;CASQ=0;CIPOS=0,11;CIRPOS=0,11;CQ=712.65;EVENT=gridss15_2440;HOMLEN=11;HOMSEQ=GTGTGTGTGTG;IC=2;IHOMPOS=0,13;IQ=117.07;PARID=gridss15_2440o;RAS=1;RASQ=241.82;REF=29;REFPAIR=11;RP=0;RPQ=0;SC=1X10N1X72M;SR=6;SRQ=110.99;SVTYPE=BND GT:ASQ:ASRP:ASSR:BAQ:BQ:BSC:BSCQ:BUM:BUMQ:CASQ:IC:IQ:QUAL:RASQ:REF:REFPAIR:RP:RPQ:SR:SRQ .:152.41:0:7:0:14.71:1:14.71:0:0:0:2:117.07:427.82:137.7:11:2:0:0:1:20.63 .:90.36:0:11:0:72.17:0:0:3:72.17:0:0:0:284.82:104.11:18:9:0:0:5:90.36 |
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##fileformat=VCFv4.2 | |
##FILTER=<ID=PASS,Description="All filters passed"> | |
##INFO=<ID=END,Number=1,Type=Integer,Description="End position of the variant described in this record"> | |
##INFO=<ID=SVLEN,Number=1,Type=Integer,Description="Difference in length between REF and ALT alleles"> | |
##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant"> | |
##INFO=<ID=CN,Number=1,Type=Integer,Description="Copy number"> | |
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##bcftools_annotateVersion=1.3+htslib-1.3 | |
##bcftools_annotateCommand=annotate -h /home/chapmanb/tmp/bcbio/svval/bcbiotx/tmpn5V9yQ/HCC2218Truth-clean-prep-header.txt | |
##bcftools_viewVersion=1.4+htslib-1.4 | |
##bcftools_viewCommand=view -R region.bed HCC2218Truth-clean-prep.vcf.gz; Date=Tue Apr 18 21:30:15 2017 | |
#CHROM POS ID REF ALT QUAL FILTER INFO | |
1 144810725 chr1_145092947_curium N <DUP> 999 PASS CN=5;END=145092947;SVLEN=282222;SVTYPE=DUP | |
1 145097095 chr1_155590850_curium N <DUP> 999 PASS CN=5;END=155590850;SVLEN=10493755;SVTYPE=DUP | |
1 155590852 chr1_217810091_curium N <DUP> 999 PASS CN=3;END=217810091;SVLEN=62219239;SVTYPE=DUP |
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