Name: gg_mutation_report
Variants: 305834
Novel Variants: 91049 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 305834 192325 0/1 565 0/2 108624 1/1 4320 1/2
Total Gene-associated SNVs 305834 192325 0/1 565 0/2 108624 1/1 4320 1/2

Type Total Variants
19
CODON_CHANGE_PLUS_CODON_DELETION50
CODON_CHANGE_PLUS_CODON_INSERTION23
CODON_DELETION65
CODON_INSERTION40
FRAME_SHIFT272
FRAME_SHIFT+SPLICE_SITE_REGION34
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED1
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION1
FRAME_SHIFT+STOP_LOST5
MOTIF_DELETED1
MOTIF[MA0003.1:Ap2alpha]16
MOTIF[MA0014.1:Pax5]6
MOTIF[MA0016.1:RXRA]2
MOTIF[MA0024.1:E2F1]7
MOTIF[MA0035.1:Gata1]4
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]3
MOTIF[MA0047.1:FOXA2]3
MOTIF[MA0047.2:FOXA2]4
MOTIF[MA0058.1:Max]42
MOTIF[MA0059.1:Cmyc]16
MOTIF[MA0062.1:Gabp]9
MOTIF[MA0062.2:Gabp]29
MOTIF[MA0065.1:PPARG]2
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]8
MOTIF[MA0079.2:SP1]26
MOTIF[MA0080.1:PU1]1
MOTIF[MA0080.2:PU1]3
MOTIF[MA0083.1:Srf]1
MOTIF[MA0093.1:USF1]39
MOTIF[MA0095.1:Yy1]10
MOTIF[MA0099.1:Cfos]5
MOTIF[MA0099.2:AP1]7
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]12
MOTIF[MA0138.1:Nrsf]3
MOTIF[MA0138.2:Nrsf]15
MOTIF[MA0139.1:CTCF]209
MOTIF[MA0147.1:Cmyc]14
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0154.1:EBF]8
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]101
NON_SYNONYMOUS_CODING11724
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION230
NON_SYNONYMOUS_START3
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS158
SPLICE_SITE_REGION55
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING249
SPLICE_SITE_REGION+SYNONYMOUS_STOP1
START_GAINED311
START_LOST16
STOP_GAINED143
STOP_GAINED+SPLICE_SITE_REGION2
STOP_GAINED+SPLICE_SITE_REGION+CODON_INSERTION2
STOP_LOST24
STOP_LOST+SPLICE_SITE_REGION5
SYNONYMOUS_CODING11404
SYNONYMOUS_STOP12
TRANSCRIPT1
None0

Type Total Variants
1656
MISSENSE12002
NONSENSE145
SILENT11666
None0

Type Total Variants
HIGH667
LOW12279
MODERATE12136
MODIFIER387
None0

Type Total Variants
flt297341
PASS8493

Quality Value
Min0.0
Average0.0
Max0.0

Read Depth Value
Min3
Average59.34340851573076
Max12849

Type Total Variants
None0
2|21
24
51
5|51

Chromossome Total Variants
126838
1019225
1114722
1212707
136639
149202
159698
1613316
1712972
186029
1913379
224387
207603
216110
227248
314680
419379
512352
612889
717129
811612
915470
M19
X6123
Y6106