Name: mmcs-209a
Variants: 223070
Novel Variants: 23106 (Not in latest DbSNP Build)

Type Total Variants
49
CODON_CHANGE_PLUS_CODON_DELETION106
CODON_CHANGE_PLUS_CODON_INSERTION87
CODON_DELETION141
CODON_INSERTION125
FRAME_SHIFT285
FRAME_SHIFT+SPLICE_SITE_REGION48
FRAME_SHIFT+START_LOST1
FRAME_SHIFT+STOP_GAINED6
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION2
FRAME_SHIFT+STOP_LOST6
GENE_FUSION1
GENE_FUSION_REVERESE1
MOTIF_DELETED14
MOTIF[MA0003.1:Ap2alpha]44
MOTIF[MA0014.1:Pax5]15
MOTIF[MA0016.1:RXRA]2
MOTIF[MA0024.1:E2F1]10
MOTIF[MA0035.1:Gata1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0047.2:FOXA2]3
MOTIF[MA0058.1:Max]22
MOTIF[MA0059.1:Cmyc]7
MOTIF[MA0062.1:Gabp]13
MOTIF[MA0062.2:Gabp]36
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0065.2:PPARG]2
MOTIF[MA0079.1:SP1]9
MOTIF[MA0079.2:SP1]42
MOTIF[MA0080.2:PU1]5
MOTIF[MA0093.1:USF1]11
MOTIF[MA0095.1:Yy1]18
MOTIF[MA0099.1:Cfos]5
MOTIF[MA0099.2:AP1]3
MOTIF[MA0105.1:NFKB]2
MOTIF[MA0114.1:HNF4A]19
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]10
MOTIF[MA0139.1:CTCF]143
MOTIF[MA0147.1:Cmyc]17
MOTIF[MA0148.1:FOXA1]2
MOTIF[MA0154.1:EBF]6
MOTIF[MA0159.1:RXR]3
MOTIF[MA0162.1:Egr1]79
NON_SYNONYMOUS_CODING11828
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION246
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS252
SPLICE_SITE_REGION63
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION2
SPLICE_SITE_REGION+SYNONYMOUS_CODING252
START_GAINED380
START_LOST9
STOP_GAINED103
STOP_GAINED+SPLICE_SITE_REGION2
STOP_GAINED+SPLICE_SITE_REGION+CODON_INSERTION1
STOP_LOST27
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING12086
SYNONYMOUS_STOP13
TRANSCRIPT2
None0

Type Total Variants
2112
MISSENSE12114
NONSENSE105
SILENT12351
None0

Type Total Variants
HIGH752
LOW13061
MODERATE12537
MODIFIER332
None0

Type Total Variants
PASS209184
VQSRTrancheINDEL99.00to99.901149
VQSRTrancheINDEL99.90to100.00112
VQSRTrancheSNP99.00to99.9010159
VQSRTrancheSNP99.90to100.002466

Quality Value
Min0.0
Average1552.81886062647
Max152123.9

Read Depth Value
Min0
Average32.339220872371904
Max2410

Type Total Variants
None0

Chromossome Total Variants
121862
1010356
1112028
1211437
134820
146788
158361
1610137
1711977
184299
1912191
216769
205263
213727
225036
312441
410309
59541
612537
711443
87819
99990
M49
X3314
Y576