Name: haplotypecaller normalized sort
Variants: 223225
Novel Variants: 8173 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 223225 106073 0/1 355 ./1 355 1/. 116442 1/1
Total Gene-associated SNVs 223225 106073 0/1 355 ./1 355 1/. 116442 1/1

Type Total Variants
47
CODON_CHANGE_PLUS_CODON_DELETION122
CODON_CHANGE_PLUS_CODON_INSERTION79
CODON_DELETION56
CODON_INSERTION78
FRAME_SHIFT238
FRAME_SHIFT+SPLICE_SITE_REGION39
FRAME_SHIFT+START_LOST5
FRAME_SHIFT+STOP_GAINED9
FRAME_SHIFT+STOP_LOST5
GENE_FUSION4
MOTIF_DELETED7
MOTIF[MA0003.1:Ap2alpha]46
MOTIF[MA0014.1:Pax5]9
MOTIF[MA0016.1:RXRA]3
MOTIF[MA0024.1:E2F1]15
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0047.1:FOXA2]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]21
MOTIF[MA0059.1:Cmyc]10
MOTIF[MA0062.1:Gabp]16
MOTIF[MA0062.2:Gabp]44
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0065.2:PPARG]4
MOTIF[MA0079.1:SP1]17
MOTIF[MA0079.2:SP1]30
MOTIF[MA0080.1:PU1]3
MOTIF[MA0080.2:PU1]2
MOTIF[MA0083.1:Srf]2
MOTIF[MA0093.1:USF1]13
MOTIF[MA0095.1:Yy1]16
MOTIF[MA0099.1:Cfos]4
MOTIF[MA0099.2:AP1]6
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]17
MOTIF[MA0115.1:RNR1H2]1
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]18
MOTIF[MA0139.1:CTCF]157
MOTIF[MA0140.1:Tal1]2
MOTIF[MA0147.1:Cmyc]18
MOTIF[MA0148.1:FOXA1]2
MOTIF[MA0154.1:EBF]8
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]64
MOTIF[MA0239.1:Pax5]1
NON_SYNONYMOUS_CODING10916
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION239
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS253
SPLICE_SITE_REGION105
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION1
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING252
START_GAINED593
START_LOST11
START_LOST+CODON_CHANGE_PLUS_CODON_DELETION1
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED108
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST29
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING11335
SYNONYMOUS_STOP12
TRANSCRIPT5
None0

Type Total Variants
2210
MISSENSE11199
NONSENSE109
SILENT11599
None0

Type Total Variants
HIGH710
LOW12554
MODERATE11493
MODIFIER360
None0

Type Total Variants
.223225

Quality Value
Min10.15
Average513.738589539443
Max19688.8

Read Depth Value
Min0
Average24.261144585059917
Max1170

Type Total Variants
None0

Chromossome Total Variants
121014
1010222
1112711
1211833
135014
147689
158160
169509
1711276
184763
1912531
216262
205761
213658
224986
312403
410829
510557
610216
712054
88740
99807
M47
X2652
Y531