Name: ep08-pa_s1
Variants: 34697
Novel Variants: 642 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 34697 146 1/2 22687 0/1 11862 1/1 2 1
Total Gene-associated SNVs 34697 146 1/2 22687 0/1 11862 1/1 2 1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION124
CODON_CHANGE_PLUS_CODON_INSERTION81
CODON_DELETION53
CODON_INSERTION68
FRAME_SHIFT138
FRAME_SHIFT+SPLICE_SITE_REGION39
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED2
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]5
MOTIF[MA0014.1:Pax5]2
MOTIF[MA0024.1:E2F1]2
MOTIF[MA0035.1:Gata1]1
MOTIF[MA0058.1:Max]4
MOTIF[MA0062.2:Gabp]2
MOTIF[MA0079.1:SP1]2
MOTIF[MA0079.2:SP1]2
MOTIF[MA0093.1:USF1]2
MOTIF[MA0095.1:Yy1]4
MOTIF[MA0114.1:HNF4A]3
MOTIF[MA0139.1:CTCF]8
MOTIF[MA0147.1:Cmyc]2
MOTIF[MA0154.1:EBF]1
MOTIF[MA0162.1:Egr1]4
NON_SYNONYMOUS_CODING12177
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION249
PROTEIN_INTERACTION_LOCUS44
SPLICE_SITE_REGION13
SPLICE_SITE_REGION+SYNONYMOUS_CODING263
START_GAINED51
START_LOST14
START_LOST+SPLICE_SITE_REGION1
STOP_GAINED125
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST22
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING12530
SYNONYMOUS_STOP6
None0

Type Total Variants
662
MISSENSE12467
NONSENSE126
SILENT12799
None0

Type Total Variants
HIGH395
LOW12886
MODERATE12752
MODIFIER21
None0

Type Total Variants
LowGQ;LowGQX88
LowGQ;LowGQX;LowMQ13
LowGQ;LowGQX;LowMQ;LowQD9
LowGQ;LowGQX;LowMQ;LowQD;SB52
LowGQ;LowGQX;LowMQ;SB23
LowGQ;LowGQX;LowQD;SB1
LowGQ;LowGQX;SB84
LowGQX3
LowGQX;LowMQ;LowQD5
LowGQX;LowMQ;LowQD;SB41
LowGQX;LowQD19
LowGQX;LowQD;SB124
LowGQX;SB5
LowMQ102
LowMQ;LowQD52
LowMQ;LowQD;SB157
LowMQ;SB68
LowQD703
LowQD;SB823
PASS31975
SB350

Quality Value
Min3.01
Average3513.85635242239
Max78666.04

Read Depth Value
Min1
Average232.0440095685506
Max5000

Type Total Variants
None0
33
23
2|21

Chromossome Total Variants
13493
101352
112543
122011
13535
141029
151052
161559
171968
18584
192507
22242
20848
21491
22917
32265
41319
51293
61902
71670
81091
91435
X587
Y4