Name: 73411510240357_annotated
Variants: 44980
Novel Variants: 227 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 44980 27721 0/1 17196 1/1 63 1/2
Total Gene-associated SNVs 44980 27721 0/1 17196 1/1 63 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION78
CODON_CHANGE_PLUS_CODON_INSERTION58
CODON_DELETION32
CODON_INSERTION58
FRAME_SHIFT203
FRAME_SHIFT+SPLICE_SITE_REGION37
FRAME_SHIFT+START_LOST4
FRAME_SHIFT+STOP_GAINED6
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]4
MOTIF[MA0014.1:Pax5]2
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]3
MOTIF[MA0062.2:Gabp]12
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]2
MOTIF[MA0093.1:USF1]2
MOTIF[MA0095.1:Yy1]7
MOTIF[MA0139.1:CTCF]21
MOTIF[MA0147.1:Cmyc]2
MOTIF[MA0162.1:Egr1]6
NON_SYNONYMOUS_CODING9245
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION182
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS155
SPLICE_SITE_REGION15
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION2
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING194
START_GAINED100
START_LOST8
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED80
STOP_GAINED+CODON_CHANGE_PLUS_CODON_DELETION1
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST19
STOP_LOST+SPLICE_SITE_REGION1
SYNONYMOUS_CODING10060
SYNONYMOUS_STOP7
None0

Type Total Variants
823
MISSENSE9455
NONSENSE81
SILENT10261
None0

Type Total Variants
HIGH522
LOW10410
MODERATE9657
MODIFIER31
None0

Type Total Variants
Indel_QC79
PASS43482
SNP_QC1419

Quality Value
Min30.73
Average2423.42759381882
Max36520.77

Read Depth Value
Min0
Average123.91113828368164
Max1370

Type Total Variants
None0
24

Chromossome Total Variants
14377
101877
113228
122430
13832
141605
151593
161997
172578
18749
193120
23106
201159
21641
221158
32287
41805
51938
61934
72551
81568
91895
X522
Y30