Name: 2-pd
Variants: 434373
Novel Variants: 18436 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 434373 133532 0/1 300452 1/1 389 1/2
Total Gene-associated SNVs 434373 133532 0/1 300452 1/1 389 1/2

Type Total Variants
49
CODON_CHANGE_PLUS_CODON_DELETION142
CODON_CHANGE_PLUS_CODON_INSERTION101
CODON_DELETION65
CODON_INSERTION87
FRAME_SHIFT279
FRAME_SHIFT+SPLICE_SITE_REGION42
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_LOST7
GENE_FUSION1
MOTIF_DELETED9
MOTIF[MA0003.1:Ap2alpha]50
MOTIF[MA0014.1:Pax5]10
MOTIF[MA0016.1:RXRA]4
MOTIF[MA0024.1:E2F1]11
MOTIF[MA0035.1:Gata1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]2
MOTIF[MA0047.1:FOXA2]1
MOTIF[MA0047.2:FOXA2]3
MOTIF[MA0058.1:Max]41
MOTIF[MA0059.1:Cmyc]9
MOTIF[MA0062.1:Gabp]17
MOTIF[MA0062.2:Gabp]46
MOTIF[MA0065.1:PPARG]3
MOTIF[MA0065.2:PPARG]4
MOTIF[MA0074.1:RXRA]1
MOTIF[MA0079.1:SP1]14
MOTIF[MA0079.2:SP1]53
MOTIF[MA0080.1:PU1]2
MOTIF[MA0080.2:PU1]5
MOTIF[MA0083.1:Srf]2
MOTIF[MA0093.1:USF1]32
MOTIF[MA0095.1:Yy1]24
MOTIF[MA0099.1:Cfos]9
MOTIF[MA0099.2:AP1]7
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]21
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]24
MOTIF[MA0139.1:CTCF]251
MOTIF[MA0140.1:Tal1]4
MOTIF[MA0147.1:Cmyc]22
MOTIF[MA0148.1:FOXA1]2
MOTIF[MA0154.1:EBF]10
MOTIF[MA0159.1:RXR]6
MOTIF[MA0162.1:Egr1]77
NON_SYNONYMOUS_CODING11493
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION225
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS256
SPLICE_SITE_REGION53
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING243
START_GAINED391
START_LOST15
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED111
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST28
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING11737
SYNONYMOUS_STOP10
TRANSCRIPT2
None0

Type Total Variants
2271
MISSENSE11766
NONSENSE113
SILENT11990
None0

Type Total Variants
HIGH758
LOW12775
MODERATE12116
MODIFIER491
None0

Type Total Variants
PASS406272
VQSRTrancheINDEL99.00to99.901811
VQSRTrancheINDEL99.90to100.001709
VQSRTrancheSNP99.90to100.0024581

Quality Value
Min30.0
Average362.782670216752
Max79430.77

Read Depth Value
Min0
Average19.41433054080249
Max2249

Type Total Variants
None0

Chromossome Total Variants
138272
1022170
1123231
1220159
1311656
1413288
1514608
1619178
1719899
189889
1918485
232829
2011579
218965
2210363
322794
423243
520080
619811
724712
817997
919718
M49
X8797
Y2601