Name: na12878 dominant
Variants: 19146
Novel Variants: 266 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 19146 12198 0/1 6948 1/1
Total Gene-associated SNVs 19146 12198 0/1 6948 1/1

Type Total Variants
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0095.1:Yy1]2
NON_SYNONYMOUS_CODING8579
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION178
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS183
SPLICE_SITE_REGION2
SPLICE_SITE_REGION+SYNONYMOUS_CODING199
START_GAINED5
START_LOST3
STOP_GAINED83
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST4
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING9427
SYNONYMOUS_STOP9
None0

Type Total Variants
196
MISSENSE8766
NONSENSE84
SILENT9635
None0

Type Total Variants
HIGH278
LOW9645
MODERATE8757
MODIFIER1
None0

Type Total Variants
ESPStandard;HARD_TO_VALIDATE;Indel;SnpCluster4
ESPStandard;HARD_TO_VALIDATE;LowQual182
ESPStandard;HARD_TO_VALIDATE;LowQual;SnpCluster7
ESPStandard;HARD_TO_VALIDATE;SnpCluster50
ESPStandard;Indel2
ESPStandard;Indel;LowQual2
ESPStandard;Indel;SnpCluster2
ESPStandard;LowQual399
ESPStandard;LowQual;SnpCluster8
ESPStandard;SnpCluster69
FDRtranche1.00to10.00+995
HARD_TO_VALIDATE;Indel2
HARD_TO_VALIDATE;Indel;SnpCluster3
HARD_TO_VALIDATE;SnpCluster31
Indel13
LowQual58
LowQual;SnpCluster1
PASS17207
SnpCluster111

Quality Value
Min10.05
Average5008.96233991432
Max160446.0

Read Depth Value
Min1
Average205.63663428392354
Max4057

Type Total Variants
None0
23
31
51

Chromossome Total Variants
12278
10749
111319
12882
13351
14540
15548
16845
171142
18295
191487
21075
20529
21272
22483
3948
4778
5855
61247
7781
8582
9753
X407