Name: pep_0060
Variants: 134134
Novel Variants: 75299 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 134134 109511 0/1 24210 1/1 413 1/2
Total Gene-associated SNVs 134134 109511 0/1 24210 1/1 413 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION90
CODON_CHANGE_PLUS_CODON_INSERTION32
CODON_DELETION56
CODON_INSERTION40
FRAME_SHIFT22579
FRAME_SHIFT+SPLICE_SITE_REGION1249
FRAME_SHIFT+START_LOST35
FRAME_SHIFT+START_LOST+SPLICE_SITE_REGION8
FRAME_SHIFT+STOP_GAINED116
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION4
FRAME_SHIFT+STOP_LOST25
FRAME_SHIFT+STOP_LOST+SPLICE_SITE_REGION1
MOTIF_DELETED1
MOTIF[MA0003.1:Ap2alpha]31
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]5
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]13
MOTIF[MA0059.1:Cmyc]5
MOTIF[MA0062.1:Gabp]4
MOTIF[MA0062.2:Gabp]26
MOTIF[MA0079.1:SP1]6
MOTIF[MA0079.2:SP1]20
MOTIF[MA0080.1:PU1]1
MOTIF[MA0080.2:PU1]3
MOTIF[MA0093.1:USF1]2
MOTIF[MA0095.1:Yy1]5
MOTIF[MA0114.1:HNF4A]4
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]86
MOTIF[MA0147.1:Cmyc]6
MOTIF[MA0148.1:FOXA1]2
MOTIF[MA0154.1:EBF]4
MOTIF[MA0159.1:RXR]26
MOTIF[MA0162.1:Egr1]24
NON_SYNONYMOUS_CODING14125
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION393
NON_SYNONYMOUS_START4
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS320
SPLICE_SITE_REGION44
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING290
START_GAINED183
START_LOST20
START_LOST+CODON_DELETION1
STOP_GAINED295
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION8
STOP_LOST28
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING11689
SYNONYMOUS_STOP12
TRANSCRIPT2
None0

Type Total Variants
25069
MISSENSE14572
NONSENSE303
SILENT11991
None0

Type Total Variants
HIGH24696
LOW12415
MODERATE14738
MODIFIER86
None0

Type Total Variants
.122838
LowQual11296

Quality Value
Min10.17
Average945508.912891228
Max4294967182.19

Read Depth Value
Min1
Average104.60546915770796
Max250

Type Total Variants
None0
2|22
22

Chromossome Total Variants
113456
105304
118161
127457
132654
144312
154456
165454
178294
182072
199456
28982
203399
211750
222714
38341
45427
55781
67707
75872
84779
94877
X3386
Y43