/EXTERNAL Roadmap/variants/K006487_K006488_2_lane_gembs

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SAMPLE K006487_K006488_2_lane_gembs




Variant counts

Type Total Pass %
SNPs 1142320032 605356502 52.99 %
Multiallelic 0 0 0.00 %



VCF Filtering Stats

Type #Sites % #Non-Variant Sites % #Variant Sites %
All 1142320032 100% 1120780131 98.11 % 21539901 1.89 %
Passed 608011978 53.23 % 603675586 53.86 % 4336392 0.71 %
Filtered 534308054 46.77 % 517104545 46.14 % 17203509 2.83 %
q20 439806528 82.31 % 433600369 83.85 % 6206159 36.07 %
q20,qd2 44914974 8.41 % 34886949 6.75 % 10028025 58.29 %
qd2 23695069 4.43 % 23374288 4.52 % 320781 1.86 %
q20,mq40 15938030 2.98 % 15743362 3.04 % 194668 1.13 %
mq40 5942792 1.11 % 5755055 1.11 % 187737 1.09 %
q20,qd2,mq40 3839377 0.72 % 3614653 0.70 % 224724 1.31 %
qd2,mq40 150132 0.03 % 129869 0.03 % 20263 0.12 %
q20,qd2,fs60 6614 0.00 % 0 0.00 % 6614 0.04 %
qd2,fs60 5866 0.00 % 0 0.00 % 5866 0.03 %
qd2,fs60,mq40 3956 0.00 % 0 0.00 % 3956 0.02 %
fs60 2719 0.00 % 0 0.00 % 2719 0.02 %
fs60,mq40 999 0.00 % 0 0.00 % 999 0.01 %
q20,qd2,fs60,mq40 985 0.00 % 0 0.00 % 985 0.01 %
q20,fs60 8 0.00 % 0 0.00 % 8 0.00 %
q20,fs60,mq40 5 0.00 % 0 0.00 % 5 0.00 %

Coverage and Quality




Coverage Variants Quality Variants
./IMG//K006487_K006488_2_lane_gembs_coverage_variants.png ./IMG//K006487_K006488_2_lane_gembs_quality_variant.png



Filtering Criteria Distribution




Phred scale strand bias estimated using Fisher's Exact Test.
./IMG//K006487_K006488_2_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//K006487_K006488_2_lane_gembs_qd_variant.png ./IMG//K006487_K006488_2_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//K006487_K006488_2_lane_gembs_rmsmq_variant.png ./IMG//K006487_K006488_2_lane_gembs_rmsmq_nonvariant.png



Mutations

Type Mutation Status # %
Transition A>G All 6827243 21.11 %
Transition G>A All 9246744 28.59 %
Transition T>C All 5574879 17.24 %
Transition C>T All 7516789 23.24 %
Transversion A>C All 298699 0.92 %
Transversion C>A All 562514 1.74 %
Transversion T>G All 355719 1.10 %
Transversion G>T All 551798 1.71 %
Transversion A>T All 456246 1.41 %
Transversion T>A All 446471 1.38 %
Transversion C>G All 273621 0.85 %
Transversion G>C All 234149 0.72 %
Transition A>G Passed 441769 19.00 %
Transition G>A Passed 321885 13.84 %
Transition T>C Passed 681273 29.30 %
Transition C>T Passed 321973 13.85 %
Transversion A>C Passed 74808 3.22 %
Transversion C>A Passed 67045 2.88 %
Transversion T>G Passed 74146 3.19 %
Transversion G>T Passed 68346 2.94 %
Transversion A>T Passed 47227 2.03 %
Transversion T>A Passed 46729 2.01 %
Transversion C>G Passed 89493 3.85 %
Transversion G>C Passed 90597 3.90 %
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 9.17 29165655 3179217
Passed 3.16 1766900 558391
dbSNPAll 0 0 0
dbSNPPassed 0 0 0