Name: 62393865_s40 mvar 62393865_S40.SAMTOOLS
Variants: 82061
Novel Variants: 7112 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 82061 49459 0/1 50 0/2 6 0/3 32434 1/1 106 2/2 5 3/3 1 4/4
Total Gene-associated SNVs 82061 49459 0/1 50 0/2 6 0/3 32434 1/1 106 2/2 5 3/3 1 4/4

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION46
CODON_CHANGE_PLUS_CODON_INSERTION61
CODON_DELETION103
CODON_INSERTION103
FRAME_SHIFT161
FRAME_SHIFT+NON_SYNONYMOUS_CODING3
FRAME_SHIFT+SPLICE_SITE_REGION46
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_LOST2
GENE_FUSION1
MOTIF[MA0003.1:Ap2alpha]11
MOTIF[MA0014.1:Pax5]2
MOTIF[MA0016.1:RXRA]4
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0047.1:FOXA2]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]8
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.1:Gabp]3
MOTIF[MA0062.2:Gabp]12
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]12
MOTIF[MA0080.1:PU1]1
MOTIF[MA0080.2:PU1]2
MOTIF[MA0093.1:USF1]3
MOTIF[MA0095.1:Yy1]4
MOTIF[MA0099.2:AP1]1
MOTIF[MA0114.1:HNF4A]1
MOTIF[MA0138.2:Nrsf]3
MOTIF[MA0139.1:CTCF]60
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]3
MOTIF[MA0154.1:EBF]1
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]11
NON_SYNONYMOUS_CODING10939
NON_SYNONYMOUS_CODING+CODON_DELETION1
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION228
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS6
PROTEIN_STRUCTURAL_INTERACTION_LOCUS263
SPLICE_SITE_REGION28
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+SYNONYMOUS_CODING247
START_GAINED189
START_LOST16
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED105
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST22
STOP_LOST+CODON_DELETION1
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING11394
SYNONYMOUS_CODING+CODON_CHANGE_PLUS_CODON_DELETION1
SYNONYMOUS_CODING+CODON_INSERTION1
SYNONYMOUS_STOP10
TRANSCRIPT2
None0

Type Total Variants
1180
MISSENSE11210
NONSENSE107
SILENT11651
None0

Type Total Variants
HIGH638
LOW11939
MODERATE11486
MODIFIER85
None0

Type Total Variants
PASS82061

Quality Value
Min10.26
Average1387.28236433817
Max46663.2

Read Depth Value
Min1
Average63.798137970534114
Max2007

Type Total Variants
None0
2|21
22

Chromossome Total Variants
17860
103571
114955
124499
131510
142894
152552
163997
174620
181297
195588
25761
201972
211308
222106
34405
43169
53484
64887
74127
82905
93434
X1088
Y72