Name: ep03-ma_s1
Variants: 34732
Novel Variants: 627 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 34732 138 1/2 23167 0/1 11427 1/1
Total Gene-associated SNVs 34732 138 1/2 23167 0/1 11427 1/1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION118
CODON_CHANGE_PLUS_CODON_INSERTION80
CODON_DELETION50
CODON_DELETION+SPLICE_SITE_REGION1
CODON_INSERTION66
FRAME_SHIFT151
FRAME_SHIFT+SPLICE_SITE_REGION40
FRAME_SHIFT+START_LOST5
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]3
MOTIF[MA0014.1:Pax5]3
MOTIF[MA0024.1:E2F1]2
MOTIF[MA0035.1:Gata1]1
MOTIF[MA0058.1:Max]3
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.2:Gabp]2
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]4
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]5
MOTIF[MA0114.1:HNF4A]3
MOTIF[MA0139.1:CTCF]3
MOTIF[MA0147.1:Cmyc]1
MOTIF[MA0154.1:EBF]1
MOTIF[MA0162.1:Egr1]11
NON_SYNONYMOUS_CODING12376
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION242
NON_SYNONYMOUS_START1
PROTEIN_INTERACTION_LOCUS34
SPLICE_SITE_REGION13
SPLICE_SITE_REGION+SYNONYMOUS_CODING262
START_GAINED58
START_LOST7
STOP_GAINED117
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST21
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING12592
SYNONYMOUS_STOP14
None0

Type Total Variants
667
MISSENSE12650
NONSENSE118
SILENT12868
None0

Type Total Variants
HIGH385
LOW12964
MODERATE12933
MODIFIER21
None0

Type Total Variants
LowGQ;LowGQX85
LowGQ;LowGQX;LowMQ8
LowGQ;LowGQX;LowMQ;LowQD8
LowGQ;LowGQX;LowMQ;LowQD;SB59
LowGQ;LowGQX;LowMQ;SB15
LowGQ;LowGQX;SB45
LowGQ;LowMQ;LowQD;SB1
LowGQX1
LowGQX;LowMQ;LowQD7
LowGQX;LowMQ;LowQD;SB38
LowGQX;LowQD19
LowGQX;LowQD;SB130
LowGQX;SB9
LowMQ88
LowMQ;LowQD70
LowMQ;LowQD;SB156
LowMQ;SB64
LowQD706
LowQD;SB887
PASS31998
SB338

Quality Value
Min3.04
Average3494.16601577795
Max81293.77

Read Depth Value
Min1
Average229.4143153288034
Max4713

Type Total Variants
None0
33
23

Chromossome Total Variants
13450
101313
112574
121888
13538
14931
151171
161430
171897
18571
192688
22148
20747
21475
22871
32260
41373
51321
62162
71758
81102
91372
X687
Y5