/EXTERNAL Roadmap/variants/K012809_1_lane_gembs

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SAMPLE K012809_1_lane_gembs




Variant counts

Type Total Pass %
SNPs 1162382003 791909425 68.13 %
Multiallelic 0 0 0.00 %



VCF Filtering Stats

Type #Sites % #Non-Variant Sites % #Variant Sites %
All 1162382003 100% 1140744187 98.14 % 21637816 1.86 %
Passed 795075844 68.40 % 789426592 69.20 % 5649252 0.71 %
Filtered 367306159 31.60 % 351317595 30.80 % 15988564 2.01 %
q20 319552000 87.00 % 316642534 90.13 % 2909466 18.20 %
q20,qd2 20617561 5.61 % 8343537 2.37 % 12274024 76.77 %
q20,mq40 16860203 4.59 % 16713566 4.76 % 146637 0.92 %
q20,qd2,mq40 3642410 0.99 % 3445507 0.98 % 196903 1.23 %
qd2 3442363 0.94 % 3240602 0.92 % 201761 1.26 %
mq40 3147580 0.86 % 2896682 0.82 % 250898 1.57 %
qd2,mq40 43023 0.01 % 35167 0.01 % 7856 0.05 %
qd2,fs60,mq40 531 0.00 % 0 0.00 % 531 0.00 %
fs60,mq40 222 0.00 % 0 0.00 % 222 0.00 %
qd2,fs60 151 0.00 % 0 0.00 % 151 0.00 %
fs60 59 0.00 % 0 0.00 % 59 0.00 %
q20,qd2,fs60,mq40 46 0.00 % 0 0.00 % 46 0.00 %
q20,qd2,fs60 9 0.00 % 0 0.00 % 9 0.00 %
q20,fs60 1 0.00 % 0 0.00 % 1 0.00 %
q20,fs60,mq40 0 0.00 % 0 0.00 % 0 0.00 %

Coverage and Quality




Coverage Variants Quality Variants
./IMG//K012809_1_lane_gembs_coverage_variants.png ./IMG//K012809_1_lane_gembs_quality_variant.png



Filtering Criteria Distribution




Phred scale strand bias estimated using Fisher's Exact Test.
./IMG//K012809_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//K012809_1_lane_gembs_qd_variant.png ./IMG//K012809_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//K012809_1_lane_gembs_rmsmq_variant.png ./IMG//K012809_1_lane_gembs_rmsmq_nonvariant.png



Mutations

Type Mutation Status # %
Transition A>G All 8911235 38.37 %
Transition G>A All 1620126 6.98 %
Transition T>C All 6537700 28.15 %
Transition C>T All 1759046 7.57 %
Transversion A>C All 279026 1.20 %
Transversion C>A All 902550 3.89 %
Transversion T>G All 377307 1.62 %
Transversion G>T All 818293 3.52 %
Transversion A>T All 639240 2.75 %
Transversion T>A All 706338 3.04 %
Transversion C>G All 383953 1.65 %
Transversion G>C All 291894 1.26 %
Transition A>G Passed 663734 20.51 %
Transition G>A Passed 485392 15.00 %
Transition T>C Passed 549867 16.99 %
Transition C>T Passed 495148 15.30 %
Transversion A>C Passed 128266 3.96 %
Transversion C>A Passed 137228 4.24 %
Transversion T>G Passed 131245 4.06 %
Transversion G>T Passed 137223 4.24 %
Transversion A>T Passed 123814 3.83 %
Transversion T>A Passed 123822 3.83 %
Transversion C>G Passed 130926 4.05 %
Transversion G>C Passed 129075 3.99 %
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 4.28 18828107 4398601
Passed 2.11 2194141 1041599
dbSNPAll 0 0 0
dbSNPPassed 0 0 0