Name: sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only
Variants: 293417
Novel Variants: 60690 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 293417 85587 0/1 20 0/2 207735 1/1 47 1/2 28 2/2
Total Gene-associated SNVs 293417 85587 0/1 20 0/2 207735 1/1 47 1/2 28 2/2

Type Total Variants
MOTIF[MA0003.1:Ap2alpha]26
MOTIF[MA0014.1:Pax5]10
MOTIF[MA0016.1:RXRA]2
MOTIF[MA0024.1:E2F1]8
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]2
MOTIF[MA0047.2:FOXA2]3
MOTIF[MA0058.1:Max]23
MOTIF[MA0059.1:Cmyc]8
MOTIF[MA0062.1:Gabp]9
MOTIF[MA0062.2:Gabp]37
MOTIF[MA0065.1:PPARG]5
MOTIF[MA0065.2:PPARG]3
MOTIF[MA0079.1:SP1]12
MOTIF[MA0079.2:SP1]27
MOTIF[MA0080.1:PU1]3
MOTIF[MA0080.2:PU1]5
MOTIF[MA0083.1:Srf]5
MOTIF[MA0093.1:USF1]14
MOTIF[MA0095.1:Yy1]18
MOTIF[MA0099.1:Cfos]8
MOTIF[MA0099.2:AP1]7
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]16
MOTIF[MA0115.1:RNR1H2]1
MOTIF[MA0138.2:Nrsf]17
MOTIF[MA0139.1:CTCF]167
MOTIF[MA0140.1:Tal1]2
MOTIF[MA0147.1:Cmyc]12
MOTIF[MA0154.1:EBF]9
MOTIF[MA0159.1:RXR]4
MOTIF[MA0162.1:Egr1]43
NON_SYNONYMOUS_CODING13391
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION341
NON_SYNONYMOUS_START2
PROTEIN_PROTEIN_INTERACTION_LOCUS7
PROTEIN_STRUCTURAL_INTERACTION_LOCUS223
SPLICE_SITE_REGION55
SPLICE_SITE_REGION+SYNONYMOUS_CODING281
START_GAINED414
START_LOST23
STOP_GAINED319
STOP_GAINED+SPLICE_SITE_REGION9
STOP_LOST32
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING12405
SYNONYMOUS_STOP14
None0

Type Total Variants
1207
MISSENSE13791
NONSENSE328
SILENT12700
None0

Type Total Variants
HIGH615
LOW13338
MODERATE13732
MODIFIER341
None0

Type Total Variants
LowQual5
LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only85442
PASS5
Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only192926
Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.9010164
Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.90to100.004875

Quality Value
Min10.01
Average1704.02169529978
Max85937.34

Read Depth Value
Min0
Average14.88175190939857
Max368

Type Total Variants
None0
24
5|51

Chromossome Total Variants
128865
1015339
1117858
1215890
135516
1410458
158451
1610676
1712607
186725
1914204
218986
208180
214977
226008
318687
415080
515421
615251
717117
811769
99419
MT15
X5212
Y706