Name: pjgl final
Variants: 16889
Novel Variants: 813 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 16889 9939 0/1 6899 1/1 51 1/2
Total Gene-associated SNVs 16889 9939 0/1 6899 1/1 51 1/2

Type Total Variants
43
CODON_CHANGE_PLUS_CODON_DELETION76
CODON_CHANGE_PLUS_CODON_INSERTION44
CODON_DELETION25
CODON_INSERTION29
FRAME_SHIFT78
FRAME_SHIFT+SPLICE_SITE_REGION9
FRAME_SHIFT+STOP_GAINED2
FRAME_SHIFT+STOP_LOST1
GENE_FUSION1
MOTIF_DELETED1
MOTIF[MA0003.1:Ap2alpha]2
MOTIF[MA0014.1:Pax5]1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0058.1:Max]4
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]7
MOTIF[MA0079.2:SP1]3
MOTIF[MA0093.1:USF1]2
MOTIF[MA0095.1:Yy1]2
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]8
MOTIF[MA0162.1:Egr1]5
NON_SYNONYMOUS_CODING3865
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION105
PROTEIN_PROTEIN_INTERACTION_LOCUS1
PROTEIN_STRUCTURAL_INTERACTION_LOCUS140
SPLICE_SITE_REGION8
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING82
START_GAINED75
START_LOST3
STOP_GAINED35
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST7
SYNONYMOUS_CODING4233
SYNONYMOUS_STOP1
TRANSCRIPT1
None0

Type Total Variants
575
MISSENSE3980
NONSENSE37
SILENT4316
None0

Type Total Variants
HIGH280
LOW4423
MODERATE4145
MODIFIER60
None0

Type Total Variants
PASS16287
VQSRTrancheINDEL99.90to100.0015
VQSRTrancheSNP99.90to100.00587

Quality Value
Min10.15
Average952.67034164243
Max15798.77

Read Depth Value
Min0
Average55.82361300254603
Max986

Type Total Variants
None0

Chromossome Total Variants
11612
10553
111142
12943
13328
14368
15505
16807
17955
18300
191185
21105
20401
21303
22370
3875
4659
5734
61344
7757
8596
9752
M43
X242
Y10