Name: 20191018_null_jozsefpocsai_1_vcf
Variants: 59322
Novel Variants: 447 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 59322 37191 0/1 31 0/2 21945 1/1 132 1/2 1 1/3 22 2/2
Total Gene-associated SNVs 59322 37191 0/1 31 0/2 21945 1/1 132 1/2 1 1/3 22 2/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION92
CODON_CHANGE_PLUS_CODON_INSERTION62
CODON_DELETION39
CODON_INSERTION69
FRAME_SHIFT256
FRAME_SHIFT+SPLICE_SITE_REGION38
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED5
FRAME_SHIFT+STOP_LOST5
MOTIF_DELETED4
MOTIF[MA0003.1:Ap2alpha]7
MOTIF[MA0014.1:Pax5]2
MOTIF[MA0024.1:E2F1]2
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]6
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]13
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]4
MOTIF[MA0080.2:PU1]1
MOTIF[MA0083.1:Srf]1
MOTIF[MA0095.1:Yy1]5
MOTIF[MA0114.1:HNF4A]1
MOTIF[MA0138.2:Nrsf]3
MOTIF[MA0139.1:CTCF]36
MOTIF[MA0147.1:Cmyc]3
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0162.1:Egr1]5
NON_SYNONYMOUS_CODING10300
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION193
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS240
SPLICE_SITE_REGION26
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING205
START_GAINED137
START_LOST16
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED87
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST24
STOP_LOST+SPLICE_SITE_REGION1
SYNONYMOUS_CODING10645
SYNONYMOUS_STOP13
TRANSCRIPT2
None0

Type Total Variants
1079
MISSENSE10534
NONSENSE89
SILENT10863
None0

Type Total Variants
HIGH681
LOW11076
MODERATE10759
MODIFIER49
None0

Type Total Variants
PASS59322

Quality Value
Min30.15
Average2069.65521627725
Max20424.2

Read Depth Value
Min0
Average64.41293280739018
Max536

Type Total Variants
None0

Chromossome Total Variants
15514
102487
113925
123289
131056
142225
151985
162674
173422
18980
194060
23989
201445
21840
221506
32980
42135
52470
63702
73307
82090
92411
X794
Y36