Name: otc2919-unique
Variants: 44455
Novel Variants: 765 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 44455 124 1/2 29676 0/1 14655 1/1
Total Gene-associated SNVs 44455 124 1/2 29676 0/1 14655 1/1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION32
CODON_CHANGE_PLUS_CODON_DELETION+SPLICE_SITE_REGION1
CODON_CHANGE_PLUS_CODON_INSERTION9
CODON_DELETION9
CODON_DELETION+SPLICE_SITE_REGION1
CODON_INSERTION13
FRAME_SHIFT27
FRAME_SHIFT+SPLICE_SITE_REGION1
FRAME_SHIFT+STOP_GAINED1
FRAME_SHIFT+STOP_LOST1
MOTIF_DELETED3
MOTIF[MA0003.1:Ap2alpha]4
MOTIF[MA0014.1:Pax5]2
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0047.1:FOXA2]1
MOTIF[MA0058.1:Max]7
MOTIF[MA0062.1:Gabp]6
MOTIF[MA0062.2:Gabp]10
MOTIF[MA0079.1:SP1]2
MOTIF[MA0079.2:SP1]8
MOTIF[MA0083.1:Srf]2
MOTIF[MA0093.1:USF1]2
MOTIF[MA0095.1:Yy1]3
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0114.1:HNF4A]5
MOTIF[MA0138.2:Nrsf]2
MOTIF[MA0139.1:CTCF]34
MOTIF[MA0147.1:Cmyc]2
MOTIF[MA0162.1:Egr1]8
NON_SYNONYMOUS_CODING2369
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION46
PROTEIN_INTERACTION_LOCUS5
SPLICE_SITE_REGION13
SPLICE_SITE_REGION+SYNONYMOUS_CODING41
START_GAINED93
START_LOST1
START_LOST+CODON_CHANGE_PLUS_CODON_DELETION1
STOP_GAINED20
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST3
SYNONYMOUS_CODING2351
SYNONYMOUS_STOP3
None0

Type Total Variants
313
MISSENSE2419
NONSENSE21
SILENT2395
None0

Type Total Variants
HIGH61
LOW2540
MODERATE2480
MODIFIER67
None0

Type Total Variants
.44455

Quality Value
Min30.74
Average213.856655269275
Max7837.73

Read Depth Value
Min2
Average14.946597683050276
Max247

Type Total Variants
None0
3,34
266
2|216
5|51
57
5|2|31
320
5,51
2|53
2|2|2|21
61
2,23
2|2|21
5|2|21
3|25

Chromossome Total Variants
14169
101916
112469
122329
13918
141444
151541
161825
172529
18717
193257
23072
201111
21701
221136
32452
42052
51906
62078
72623
81545
91789
X819
Y57