Name: 1581298
Variants: 371515
Novel Variants: 33046 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION98
CODON_CHANGE_PLUS_CODON_DELETION+SPLICE_SITE_REGION1
CODON_CHANGE_PLUS_CODON_INSERTION83
CODON_DELETION124
CODON_DELETION+SPLICE_SITE_REGION1
CODON_INSERTION101
CODON_INSERTION+SPLICE_SITE_REGION3
FRAME_SHIFT301
FRAME_SHIFT+SPLICE_SITE_REGION45
FRAME_SHIFT+STOP_GAINED2
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION2
FRAME_SHIFT+STOP_LOST5
MOTIF_DELETED9
MOTIF[MA0003.1:Ap2alpha]21
MOTIF[MA0014.1:Pax5]7
MOTIF[MA0016.1:RXRA]7
MOTIF[MA0024.1:E2F1]5
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]2
MOTIF[MA0047.1:FOXA2]3
MOTIF[MA0047.2:FOXA2]4
MOTIF[MA0058.1:Max]36
MOTIF[MA0059.1:Cmyc]11
MOTIF[MA0062.1:Gabp]6
MOTIF[MA0062.2:Gabp]32
MOTIF[MA0065.1:PPARG]5
MOTIF[MA0079.1:SP1]10
MOTIF[MA0079.2:SP1]31
MOTIF[MA0080.1:PU1]5
MOTIF[MA0080.2:PU1]7
MOTIF[MA0083.1:Srf]1
MOTIF[MA0093.1:USF1]32
MOTIF[MA0095.1:Yy1]12
MOTIF[MA0099.1:Cfos]7
MOTIF[MA0099.2:AP1]8
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]12
MOTIF[MA0115.1:RNR1H2]1
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]9
MOTIF[MA0139.1:CTCF]181
MOTIF[MA0140.1:Tal1]2
MOTIF[MA0147.1:Cmyc]13
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0154.1:EBF]15
MOTIF[MA0159.1:RXR]2
MOTIF[MA0162.1:Egr1]31
NON_SYNONYMOUS_CODING11666
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION232
PROTEIN_INTERACTION_LOCUS39
SPLICE_SITE_REGION49
SPLICE_SITE_REGION+SYNONYMOUS_CODING286
START_GAINED293
START_LOST15
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
START_LOST+CODON_DELETION1
STOP_GAINED112
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED+CODON_INSERTION+SPLICE_SITE_REGION1
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST22
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING11894
SYNONYMOUS_STOP15
TRANSCRIPT5
None0

Type Total Variants
1687
MISSENSE11939
NONSENSE113
SILENT12195
None0

Type Total Variants
HIGH552
LOW12770
MODERATE12309
MODIFIER303
None0

Type Total Variants
LowQual74966
PASS275805
VQSRTrancheINDEL99.00to99.901374
VQSRTrancheINDEL99.90to100.00562
VQSRTrancheSNP99.00to99.9013747
VQSRTrancheSNP99.90to100.005061

Quality Value
Min3.01
Average383.630644011493
Max54618.92

Read Depth Value
Min0
Average26.218080023686795
Max1723

Type Total Variants
None0
32
24
5|51

Chromossome Total Variants
132280
1018935
1119975
1218142
1310208
1412579
1512141
1616025
1716718
188402
1916483
228386
209976
216727
228327
320129
419931
517459
617081
721897
815721
916343
X5226
Y2424