Name: 1581287
Variants: 407476
Novel Variants: 35514 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION93
CODON_CHANGE_PLUS_CODON_DELETION+SPLICE_SITE_REGION1
CODON_CHANGE_PLUS_CODON_INSERTION83
CODON_DELETION116
CODON_DELETION+SPLICE_SITE_REGION1
CODON_INSERTION101
CODON_INSERTION+SPLICE_SITE_REGION3
FRAME_SHIFT286
FRAME_SHIFT+SPLICE_SITE_REGION47
FRAME_SHIFT+START_LOST1
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION1
FRAME_SHIFT+STOP_LOST6
MOTIF_DELETED10
MOTIF[MA0003.1:Ap2alpha]22
MOTIF[MA0014.1:Pax5]10
MOTIF[MA0016.1:RXRA]8
MOTIF[MA0024.1:E2F1]7
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]2
MOTIF[MA0047.1:FOXA2]3
MOTIF[MA0047.2:FOXA2]6
MOTIF[MA0058.1:Max]39
MOTIF[MA0059.1:Cmyc]11
MOTIF[MA0062.1:Gabp]8
MOTIF[MA0062.2:Gabp]29
MOTIF[MA0065.1:PPARG]5
MOTIF[MA0079.1:SP1]12
MOTIF[MA0079.2:SP1]42
MOTIF[MA0080.1:PU1]5
MOTIF[MA0080.2:PU1]12
MOTIF[MA0083.1:Srf]1
MOTIF[MA0093.1:USF1]36
MOTIF[MA0095.1:Yy1]13
MOTIF[MA0099.1:Cfos]10
MOTIF[MA0099.2:AP1]7
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]12
MOTIF[MA0115.1:RNR1H2]1
MOTIF[MA0138.1:Nrsf]2
MOTIF[MA0138.2:Nrsf]19
MOTIF[MA0139.1:CTCF]188
MOTIF[MA0147.1:Cmyc]13
MOTIF[MA0148.1:FOXA1]3
MOTIF[MA0154.1:EBF]15
MOTIF[MA0159.1:RXR]5
MOTIF[MA0162.1:Egr1]30
NON_SYNONYMOUS_CODING11345
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION220
PROTEIN_INTERACTION_LOCUS43
SPLICE_SITE_REGION52
SPLICE_SITE_REGION+SYNONYMOUS_CODING263
START_GAINED291
START_LOST10
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED109
STOP_GAINED+CODON_INSERTION+SPLICE_SITE_REGION2
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST22
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING11851
SYNONYMOUS_STOP11
TRANSCRIPT5
None0

Type Total Variants
1724
MISSENSE11601
NONSENSE110
SILENT12125
None0

Type Total Variants
HIGH536
LOW12739
MODERATE11963
MODIFIER322
None0

Type Total Variants
LowQual84201
PASS301026
VQSRTrancheINDEL99.00to99.901453
VQSRTrancheINDEL99.90to100.00546
VQSRTrancheSNP99.00to99.9014779
VQSRTrancheSNP99.90to100.005471

Quality Value
Min3.01
Average389.994603755496
Max54618.92

Read Depth Value
Min0
Average28.753111839715714
Max2013

Type Total Variants
None0
32
22
5|51
2|21

Chromossome Total Variants
134924
1021066
1121655
1219634
1311454
1413837
1513511
1617642
1718182
189743
1917169
230941
2010807
217165
228836
322307
422009
519488
619141
723819
817183
918542
X5759
Y2662