/EXTERNAL Roadmap/variants/K012816_1_lane_gembs

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SAMPLE K012816_1_lane_gembs




Variant counts

Type Total Pass %
SNPs 1163165165 1015119809 87.27 %
Multiallelic 0 0 0.00 %



VCF Filtering Stats

Type #Sites % #Non-Variant Sites % #Variant Sites %
All 1163165165 100% 1144849259 98.43 % 18315906 1.57 %
Passed 1016600803 87.40 % 1012265745 88.42 % 4335058 0.43 %
Filtered 146564362 12.60 % 132583514 11.58 % 13980848 1.38 %
q20 103248967 70.45 % 101903912 76.86 % 1345055 9.62 %
q20,qd2 17757085 12.12 % 6133807 4.63 % 11623278 83.14 %
q20,mq40 14323373 9.77 % 14164087 10.68 % 159286 1.14 %
mq40 4101311 2.80 % 3815604 2.88 % 285707 2.04 %
qd2 3714654 2.53 % 3375930 2.55 % 338724 2.42 %
q20,qd2,mq40 3359662 2.29 % 3143654 2.37 % 216008 1.55 %
qd2,mq40 57752 0.04 % 46520 0.04 % 11232 0.08 %
qd2,fs60,mq40 862 0.00 % 0 0.00 % 862 0.01 %
fs60,mq40 346 0.00 % 0 0.00 % 346 0.00 %
qd2,fs60 183 0.00 % 0 0.00 % 183 0.00 %
fs60 83 0.00 % 0 0.00 % 83 0.00 %
q20,qd2,fs60,mq40 73 0.00 % 0 0.00 % 73 0.00 %
q20,qd2,fs60 9 0.00 % 0 0.00 % 9 0.00 %
q20,fs60,mq40 2 0.00 % 0 0.00 % 2 0.00 %
q20,fs60 0 0.00 % 0 0.00 % 0 0.00 %

Coverage and Quality




Coverage Variants Quality Variants
./IMG//K012816_1_lane_gembs_coverage_variants.png ./IMG//K012816_1_lane_gembs_quality_variant.png



Filtering Criteria Distribution




Phred scale strand bias estimated using Fisher's Exact Test.
./IMG//K012816_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//K012816_1_lane_gembs_qd_variant.png ./IMG//K012816_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//K012816_1_lane_gembs_rmsmq_variant.png ./IMG//K012816_1_lane_gembs_rmsmq_nonvariant.png



Mutations

Type Mutation Status # %
Transition A>G All 7919448 39.52 %
Transition G>A All 1423476 7.10 %
Transition T>C All 6050563 30.19 %
Transition C>T All 1532272 7.65 %
Transversion A>C All 245568 1.23 %
Transversion C>A All 548910 2.74 %
Transversion T>G All 289157 1.44 %
Transversion G>T All 515090 2.57 %
Transversion A>T All 482293 2.41 %
Transversion T>A All 509666 2.54 %
Transversion C>G All 278423 1.39 %
Transversion G>C All 243823 1.22 %
Transition A>G Passed 858953 21.45 %
Transition G>A Passed 602144 15.04 %
Transition T>C Passed 705623 17.62 %
Transition C>T Passed 611055 15.26 %
Transversion A>C Passed 153812 3.84 %
Transversion C>A Passed 160012 4.00 %
Transversion T>G Passed 157002 3.92 %
Transversion G>T Passed 160843 4.02 %
Transversion A>T Passed 141193 3.53 %
Transversion T>A Passed 141859 3.54 %
Transversion C>G Passed 157161 3.92 %
Transversion G>C Passed 154706 3.86 %
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 5.44 16925759 3112930
Passed 2.26 2777775 1226588
dbSNPAll 0 0 0
dbSNPPassed 0 0 0