Name: wes_0012 hg38
Variants: 85242
Novel Variants: 83238 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 85242 46674 0/1 46 ./1 38101 1/1 377 1/2 44 2/1
Total Gene-associated SNVs 85242 46674 0/1 46 ./1 38101 1/1 377 1/2 44 2/1

Type Total Variants
514
CODON_CHANGE_PLUS_CODON_DELETION14
CODON_CHANGE_PLUS_CODON_INSERTION12
CODON_DELETION8
CODON_INSERTION7
FRAME_SHIFT207
FRAME_SHIFT+NON_SYNONYMOUS_CODING2
FRAME_SHIFT+SPLICE_SITE_REGION6
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_LOST1
MOTIF[MA0003.1:Ap2alpha]2
MOTIF[MA0014.1:Pax5]2
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]13
MOTIF[MA0059.1:Cmyc]2
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]10
MOTIF[MA0079.1:SP1]3
MOTIF[MA0079.2:SP1]9
MOTIF[MA0080.2:PU1]3
MOTIF[MA0093.1:USF1]8
MOTIF[MA0095.1:Yy1]1
MOTIF[MA0099.1:Cfos]3
MOTIF[MA0099.2:AP1]6
MOTIF[MA0114.1:HNF4A]5
MOTIF[MA0138.2:Nrsf]7
MOTIF[MA0139.1:CTCF]51
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]7
MOTIF[MA0148.1:FOXA1]4
MOTIF[MA0154.1:EBF]4
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]4
NON_SYNONYMOUS_CODING1474
NON_SYNONYMOUS_CODING+CODON_DELETION1
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION47
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS36
SPLICE_SITE_REGION8
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION1
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING25
START_GAINED38
START_LOST3
STOP_GAINED67
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION3
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST4
SYNONYMOUS_CODING1177
SYNONYMOUS_START3
None0

Type Total Variants
1664
MISSENSE1494
NONSENSE67
SILENT595
None0

Type Total Variants
HIGH337
LOW1307
MODERATE1566
MODIFIER610
None0

Type Total Variants
.1352
HARD_TO_VALIDATE1
HARD_TO_VALIDATE;LowQD;SnpCluster2
HARD_TO_VALIDATE;StrandBias1
LowCoverage8472
LowCoverage;LowQual2543
LowCoverage;LowQual;SnpCluster17
LowCoverage;SnpCluster72
LowCoverage;SnpCluster;VeryLowQual20
LowCoverage;VeryLowQual3275
LowQD1350
LowQD;LowQual68
LowQD;LowQual;SnpCluster13
LowQD;LowQual;StrandBias1
LowQD;SnpCluster95
LowQD;SnpCluster;StrandBias1
LowQD;SnpCluster;VeryLowQual26
LowQD;StrandBias31
LowQD;StrandBias;VeryLowQual3
LowQD;VeryLowQual152
LowQual1061
LowQual;SnpCluster36
PASS65233
SnpCluster953
SnpCluster;StrandBias36
SnpCluster;VeryLowQual6
StrandBias124
VeryLowQual298

Quality Value
Min10.15
Average1581.79155451574
Max73255.73

Read Depth Value
Min0
Average0.0
Max0

Type Total Variants
None0

Chromossome Total Variants
17749
103541
115184
124534
131834
142689
152757
163206
174464
181515
196300
25615
202249
211248
221927
34781
43497
53771
65693
74547
83002
93607
M3
X1527
Y2