/EXTERNAL Roadmap/variants/K006506_1_lane_gembs

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SAMPLE K006506_1_lane_gembs




Variant counts

Type Total Pass %
SNPs 1157338683 1062440978 91.80 %
Multiallelic 0 0 0.00 %



VCF Filtering Stats

Type #Sites % #Non-Variant Sites % #Variant Sites %
All 1157338683 100% 1148770413 99.26 % 8568270 0.74 %
Passed 1062719418 91.82 % 1059596608 92.24 % 3122810 0.29 %
Filtered 94619265 8.18 % 89173805 7.76 % 5445460 0.51 %
mq40 43773089 46.26 % 43148440 48.39 % 624649 11.47 %
q20 23113857 24.43 % 22716127 25.47 % 397730 7.30 %
q20,mq40 18806782 19.88 % 18534907 20.79 % 271875 4.99 %
q20,qd2 3966901 4.19 % 960166 1.08 % 3006735 55.22 %
q20,qd2,mq40 2647488 2.80 % 1953994 2.19 % 693494 12.74 %
qd2 1895793 2.00 % 1570370 1.76 % 325423 5.98 %
qd2,mq40 355537 0.38 % 289801 0.32 % 65736 1.21 %
fs60 30165 0.03 % 0 0.00 % 30165 0.55 %
q20,qd2,fs60 10917 0.01 % 0 0.00 % 10917 0.20 %
fs60,mq40 10741 0.01 % 0 0.00 % 10741 0.20 %
q20,fs60 4007 0.00 % 0 0.00 % 4007 0.07 %
qd2,fs60 2644 0.00 % 0 0.00 % 2644 0.05 %
qd2,fs60,mq40 643 0.00 % 0 0.00 % 643 0.01 %
q20,qd2,fs60,mq40 586 0.00 % 0 0.00 % 586 0.01 %
q20,fs60,mq40 115 0.00 % 0 0.00 % 115 0.00 %

Coverage and Quality




Coverage Variants Quality Variants
./IMG//K006506_1_lane_gembs_coverage_variants.png ./IMG//K006506_1_lane_gembs_quality_variant.png



Filtering Criteria Distribution




Phred scale strand bias estimated using Fisher's Exact Test.
./IMG//K006506_1_lane_gembs_fs_variant.png



Allele-specific call confidence normalized by depth of sample reads supporting the allele. Variants. Allele-specific call confidence normalized by depth of sample reads supporting the allele. Non-Variants.
./IMG//K006506_1_lane_gembs_qd_variant.png ./IMG//K006506_1_lane_gembs_qd_nonvariant.png



Root Mean Square of the mapping quality of reads. Variants. Root Mean Square of the mapping quality of reads. Non-Variants.
./IMG//K006506_1_lane_gembs_rmsmq_variant.png ./IMG//K006506_1_lane_gembs_rmsmq_nonvariant.png



Mutations

Type Mutation Status # %
Transition A>G All 2869309 28.40 %
Transition G>A All 999782 9.90 %
Transition T>C All 2878659 28.49 %
Transition C>T All 1005489 9.95 %
Transversion A>C All 240180 2.38 %
Transversion C>A All 375951 3.72 %
Transversion T>G All 243502 2.41 %
Transversion G>T All 379053 3.75 %
Transversion A>T All 336379 3.33 %
Transversion T>A All 327091 3.24 %
Transversion C>G All 224046 2.22 %
Transversion G>C All 224375 2.22 %
Transition A>G Passed 774529 19.07 %
Transition G>A Passed 620575 15.28 %
Transition T>C Passed 798193 19.65 %
Transition C>T Passed 629433 15.49 %
Transversion A>C Passed 163757 4.03 %
Transversion C>A Passed 155657 3.83 %
Transversion T>G Passed 163920 4.03 %
Transversion G>T Passed 156593 3.85 %
Transversion A>T Passed 141645 3.49 %
Transversion T>A Passed 140834 3.47 %
Transversion C>G Passed 158031 3.89 %
Transversion G>C Passed 159316 3.92 %
Transition A>G dbSNPAll 0 0.00 %
Transition G>A dbSNPAll 0 0.00 %
Transition T>C dbSNPAll 0 0.00 %
Transition C>T dbSNPAll 0 0.00 %
Transversion A>C dbSNPAll 0 0.00 %
Transversion C>A dbSNPAll 0 0.00 %
Transversion T>G dbSNPAll 0 0.00 %
Transversion G>T dbSNPAll 0 0.00 %
Transversion A>T dbSNPAll 0 0.00 %
Transversion T>A dbSNPAll 0 0.00 %
Transversion C>G dbSNPAll 0 0.00 %
Transversion G>C dbSNPAll 0 0.00 %
Transition A>G dbSNPPassed 0 0.00 %
Transition G>A dbSNPPassed 0 0.00 %
Transition T>C dbSNPPassed 0 0.00 %
Transition C>T dbSNPPassed 0 0.00 %
Transversion A>C dbSNPPassed 0 0.00 %
Transversion C>A dbSNPPassed 0 0.00 %
Transversion T>G dbSNPPassed 0 0.00 %
Transversion G>T dbSNPPassed 0 0.00 %
Transversion A>T dbSNPPassed 0 0.00 %
Transversion T>A dbSNPPassed 0 0.00 %
Transversion C>G dbSNPPassed 0 0.00 %
Transversion G>C dbSNPPassed 0 0.00 %



Ti/Tv Ratio

Status Ratio Transitions Transversions
All 3.30 7753239 2350577
Passed 2.28 2822730 1239753
dbSNPAll 0 0 0
dbSNPPassed 0 0 0