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 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63
|
##fileformat=VCFv4.2
##source=Sniffles
##fileDate=20180806
##contig=<ID=1,length=249250621>
##contig=<ID=2,length=243199373>
##contig=<ID=3,length=198022430>
##contig=<ID=4,length=191154276>
##contig=<ID=5,length=180915260>
##contig=<ID=6,length=171115067>
##contig=<ID=7,length=159138663>
##contig=<ID=8,length=146364022>
##contig=<ID=9,length=141213431>
##contig=<ID=10,length=135534747>
##contig=<ID=11,length=135006516>
##contig=<ID=12,length=133851895>
##contig=<ID=13,length=115169878>
##contig=<ID=14,length=107349540>
##contig=<ID=15,length=102531392>
##contig=<ID=16,length=90354753>
##contig=<ID=17,length=81195210>
##contig=<ID=18,length=78077248>
##contig=<ID=19,length=59128983>
##contig=<ID=20,length=63025520>
##contig=<ID=21,length=48129895>
##contig=<ID=22,length=51304566>
##contig=<ID=X,length=155270560>
##contig=<ID=Y,length=59373566>
##contig=<ID=MT,length=16569>
##ALT=<ID=DEL,Description="Deletion">
##ALT=<ID=DUP,Description="Duplication">
##ALT=<ID=INV,Description="Inversion">
##ALT=<ID=INVDUP,Description="InvertedDUP with unknown boundaries">
##ALT=<ID=TRA,Description="Translocation">
##ALT=<ID=INS,Description="Insertion">
##INFO=<ID=CHR2,Number=1,Type=String,Description="Chromosome for END coordinate in case of a translocation">
##INFO=<ID=END,Number=1,Type=Integer,Description="End position of the structural variant">
##INFO=<ID=MAPQ,Number=1,Type=Integer,Description="Median mapping quality of paired-ends">
##INFO=<ID=RE,Number=1,Type=Integer,Description="read support">
##INFO=<ID=IMPRECISE,Number=0,Type=Flag,Description="Imprecise structural variation">
##INFO=<ID=PRECISE,Number=0,Type=Flag,Description="Precise structural variation">
##INFO=<ID=SVLEN,Number=1,Type=Integer,Description="Length of the SV">
##INFO=<ID=SVMETHOD,Number=1,Type=String,Description="Type of approach used to detect SV">
##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant">
##INFO=<ID=STD_quant_start,Number=A,Type=Integer,Description="STD of the start breakpoints across the reads.">
##INFO=<ID=STD_quant_stop,Number=A,Type=Integer,Description="STD of the stop breakpoints across the reads.">
##INFO=<ID=Kurtosis_quant_start,Number=A,Type=Integer,Description="Kurtosis value of the start breakpoints accross the reads.">
##INFO=<ID=Kurtosis_quant_stop,Number=A,Type=Integer,Description="Kurtosis value of the stop breakpoints accross the reads.">
##INFO=<ID=SUPTYPE,Number=1,Type=String,Description="Type by which the variant is supported.(SR,ALN)">
##INFO=<ID=SUPTYPE,Number=1,Type=String,Description="Type by which the variant is supported.(SR,ALN)">
##INFO=<ID=STRANDS,Number=A,Type=String,Description="Strand orientation of the adjacency in BEDPE format (DEL:+-, DUP:-+, INV:++/--)">
##INFO=<ID=AF,Number=A,Type=Float,Description="Allele Frequency.">
##INFO=<ID=ZMW,Number=A,Type=Integer,Description="Number of ZMWs (Pacbio) supporting SV.">
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
##FORMAT=<ID=DR,Number=1,Type=Integer,Description="# high-quality reference reads">
##FORMAT=<ID=DV,Number=1,Type=Integer,Description="# high-quality variant reads">
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT COLO829T_Sniffles
1 749969 0 N <INS> . PASS IMPRECISE;SVMETHOD=Snifflesv1.0.8;CHR2=1;END=749969;STD_quant_start=23.259407;STD_quant_stop=24.460172;Kurtosis_quant_start=-1.160667;Kurtosis_quant_stop=-1.122461;SVTYPE=INS;SUPTYPE=AL;SVLEN=97;STRANDS=+-;RE=13;AF=0.541667 GT:DR:DV 0/1:11:13
1 756295 1 N <DEL> . PASS PRECISE;SVMETHOD=Snifflesv1.0.8;CHR2=1;END=756329;STD_quant_start=6.745369;STD_quant_stop=6.488451;Kurtosis_quant_start=-0.184405;Kurtosis_quant_stop=-0.417854;SVTYPE=DEL;SUPTYPE=AL;SVLEN=34;STRANDS=+-;RE=11;AF=0.52381 GT:DR:DV 0/1:10:11
1 808162 2 N <DUP> . PASS IMPRECISE;SVMETHOD=Snifflesv1.0.8;CHR2=1;END=808578;STD_quant_start=57.781485;STD_quant_stop=42.262276;Kurtosis_quant_start=-0.895583;Kurtosis_quant_stop=-0.302589;SVTYPE=DUP;SUPTYPE=SR;SVLEN=416;STRANDS=-+;RE=14;AF=0.35 GT:DR:DV 0/1:26:14
3 24565105 4920 N <INVDUP> . PASS PRECISE;SVMETHOD=Snifflesv1.0.8;CHR2=3;END=24566175;STD_quant_start=3.171300;STD_quant_stop=4.430414;Kurtosis_quant_start=20.475509;Kurtosis_quant_stop=25.149940;SVTYPE=INVDUP;SUPTYPE=SR;SVLEN=1070;STRANDS=--;RE=71;AF=0.67619 GT:DR:DV 0/1:34:71
3 108294403 5809 N <DUP/INS> . PASS IMPRECISE;SVMETHOD=Snifflesv1.0.8;CHR2=3;END=108294403;STD_quant_start=148.377896;STD_quant_stop=127.591740;Kurtosis_quant_start=-2.045946;Kurtosis_quant_stop=-0.756231;SVTYPE=DUP/INS;SUPTYPE=AL,SR;SVLEN=328;STRANDS=+-;RE=23;AF=1 GT:DR:DV 1/1:0:23
6 58777413 11159 N <INVDUP> . PASS IMPRECISE;SVMETHOD=Snifflesv1.0.8;CHR2=6;END=58778314;STD_quant_start=294.690176;STD_quant_stop=884.891632;Kurtosis_quant_start=-0.773421;Kurtosis_quant_stop=-1.349048;SVTYPE=INVDUP;SUPTYPE=SR;SVLEN=901;STRANDS=--;RE=11;AF=1 GT:DR:DV 1/1:0:11
10 7634372 32403 N ]18:9868617]N . PASS PRECISE;SVMETHOD=Snifflesv1.0.8;STD_quant_start=0.316228;STD_quant_stop=0.316228;Kurtosis_quant_start=6.074830;Kurtosis_quant_stop=3.762037;SVTYPE=BND;SUPTYPE=SR;SVLEN=903236176;STRANDS=--;RE=15;AF=0.5 GT:DR:DV 0/1:15:15
|