1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
|
##fileformat=VCFv4.1
##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=.,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=PARID,Number=1,Type=String,Description="ID of partner breakend">
##INFO=<ID=EVENT,Number=1,Type=String,Description="ID of event associated to breakend">
##ALT=<ID=DEL,Description="">
##ALT=<ID=INS,Description="">
##ALT=<ID=INV,Description="">
##INFO=<ID=Chr1,Number=1,Type=String,Description="BreakDancer output">
##INFO=<ID=Pos1,Number=1,Type=Integer,Description="BreakDancer output">
##INFO=<ID=Orient1,Number=1,Type=String,Description="BreakDancer output">
##INFO=<ID=Chr2,Number=1,Type=String,Description="BreakDancer output">
##INFO=<ID=Pos2,Number=1,Type=String,Description="BreakDancer output">
##INFO=<ID=Orient2,Number=1,Type=String,Description="BreakDancer output">
##INFO=<ID=Type,Number=1,Type=String,Description="BreakDancer output">
##INFO=<ID=Size,Number=1,Type=Integer,Description="BreakDancer output">
##INFO=<ID=Score,Number=1,Type=Float,Description="BreakDancer output">
##INFO=<ID=num_Reads,Number=1,Type=Integer,Description="BreakDancer output">
##INFO=<ID=UNKNOWN_ORIENTATION,Number=0,Type=Flag,Description="Orientation of structural variation is unknown">
#CHROM POS ID REF ALT QUAL FILTER INFO
chr1 755738 line6d N ]chr1:756287]N 2 PASS IMPRECISE;UNKNOWN_ORIENTATION;SVLEN=-167;SVTYPE=BND;PARID=line6c;EVENT=ITXline6;Chr1=chr1;Pos1=755905;Orient1=2+2-;Chr2=chr1;Pos2=756287;Orient2=2+0-;Type=ITX;Size=-167;Score=52;num_Reads=2
chr1 755905 line6a N N[chr1:756287[ 2 PASS IMPRECISE;UNKNOWN_ORIENTATION;SVLEN=-167;SVTYPE=BND;PARID=line6b;EVENT=ITXline6
chr1 756022 line7 N <DEL> 2 PASS IMPRECISE;END=756373;SVLEN=-351;SVTYPE=DEL;Chr1=chr1;Pos1=756022;Orient1=2+2-;Chr2=chr1;Pos2=756322;Orient2=2+2-;Type=DEL;Size=351;Score=36;num_Reads=2
chr1 756287 line6b N ]chr1:755738]N 2 PASS IMPRECISE;UNKNOWN_ORIENTATION;SVLEN=-167;SVTYPE=BND;PARID=line6a;EVENT=ITXline6
chr1 756287 line6c N N[chr1:755905[ 2 PASS IMPRECISE;UNKNOWN_ORIENTATION;SVLEN=-167;SVTYPE=BND;PARID=line6d;EVENT=ITXline6
chr1 802811 line8 N <DEL> 2 PASS IMPRECISE;END=803169;SVLEN=-358;SVTYPE=DEL;Chr1=chr1;Pos1=802811;Orient1=2+0-;Chr2=chr1;Pos2=803217;Orient2=0+2-;Type=DEL;Size=358;Score=42;num_Reads=2
chr1 1515117 line14 N <INV> 2 PASS IMPRECISE;END=1516842;SVLEN=1734;SVTYPE=INV;Chr1=chr1;Pos1=1515117;Orient1=2+1-;Chr2=chr1;Pos2=1516842;Orient2=2+0-;Type=INV;Size=1734;Score=60;num_Reads=2
chr1 5728551 line40896o N ]chrY:9984112]N 6 PASS IMPRECISE;UNKNOWN_ORIENTATION;SVLEN=-315;SVTYPE=BND;PARID=line40896h;EVENT=CTXline40896
chrY 9984112 line40896h N N[chr1:5728551[ 6 PASS IMPRECISE;UNKNOWN_ORIENTATION;SVLEN=-315;SVTYPE=BND;PARID=line40896o;EVENT=CTXline40896;Chr1=chr1;Pos1=5728551;Orient1=5+8-;Chr2=chrY;Pos2=9984112;Orient2=6+0-;Type=CTX;Size=-315;Score=99;num_Reads=6
|
