Name: muestra1_s1
Variants: 8942
Novel Variants: 245 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 8942 5405 0/1 3496 1/1 41 1/2
Total Gene-associated SNVs 8942 5405 0/1 3496 1/1 41 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION24
CODON_CHANGE_PLUS_CODON_INSERTION18
CODON_DELETION8
CODON_INSERTION11
FRAME_SHIFT19
FRAME_SHIFT+SPLICE_SITE_REGION10
FRAME_SHIFT+START_LOST1
FRAME_SHIFT+STOP_LOST1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0079.2:SP1]1
MOTIF[MA0139.1:CTCF]2
NON_SYNONYMOUS_CODING2987
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION91
PROTEIN_PROTEIN_INTERACTION_LOCUS1
PROTEIN_STRUCTURAL_INTERACTION_LOCUS70
SPLICE_SITE_REGION4
SPLICE_SITE_REGION+SYNONYMOUS_CODING78
START_GAINED11
START_LOST4
STOP_GAINED25
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST7
SYNONYMOUS_CODING3680
SYNONYMOUS_STOP2
None0

Type Total Variants
183
MISSENSE3089
NONSENSE26
SILENT3760
None0

Type Total Variants
HIGH139
LOW3778
MODERATE3139
MODIFIER2
None0

Type Total Variants
LowGQ;LowGQX129
LowGQ;LowGQX;LowMQ1
LowGQ;LowGQX;LowMQ;LowQD;SB12
LowGQ;LowGQX;LowMQ;SB4
LowGQ;LowGQX;SB50
LowGQX13
LowGQX;LowMQ;LowQD;SB7
LowGQX;LowQD69
LowGQX;LowQD;SB142
LowGQX;SB13
LowMQ3
LowMQ;LowQD4
LowMQ;LowQD;SB12
LowMQ;SB5
LowQD117
LowQD;SB111
PASS8052
SB198

Quality Value
Min3.08
Average1563.7333583091
Max21261.01

Read Depth Value
Min1
Average81.93659136658465
Max331

Type Total Variants
None0
2|22
23
31

Chromossome Total Variants
1801
10321
11547
12463
13200
14204
15296
16442
17429
18151
19514
2646
20164
21109
22248
3457
4355
5397
6916
7384
8305
9383
X204
Y6