Name: eb1954_unique
Variants: 3078
Novel Variants: 619 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION8
CODON_CHANGE_PLUS_CODON_INSERTION7
CODON_DELETION7
CODON_INSERTION8
FRAME_SHIFT16
FRAME_SHIFT+SPLICE_SITE_REGION2
MOTIF_DELETED1
MOTIF[MA0058.1:Max]1
MOTIF[MA0079.1:SP1]1
MOTIF[MA0114.1:HNF4A]1
MOTIF[MA0138.2:Nrsf]2
MOTIF[MA0162.1:Egr1]2
NON_SYNONYMOUS_CODING425
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION10
PROTEIN_STRUCTURAL_INTERACTION_LOCUS13
SPLICE_SITE_REGION4
SPLICE_SITE_REGION+SYNONYMOUS_CODING7
START_GAINED14
START_LOST1
STOP_GAINED8
SYNONYMOUS_CODING314
None0

Type Total Variants
87
MISSENSE436
NONSENSE8
SILENT321
None0

Type Total Variants
HIGH40
LOW343
MODERATE465
MODIFIER4
None0

Type Total Variants
PASS2630
VQSRTrancheINDEL99.00to99.90125
VQSRTrancheINDEL99.90to100.0022
VQSRTrancheSNP99.00to99.90120
VQSRTrancheSNP99.90to100.00181

Quality Value
Min30.17
Average6623.24838856391
Max335541.34

Read Depth Value
Min0
Average113.25471085120208
Max853

Type Total Variants
None0

Chromossome Total Variants
1337
1098
11176
12174
1350
14134
15108
16150
17145
1854
19177
2202
2084
2169
2277
3173
4132
5151
6172
7135
881
9141
X56
Y2