Name: ht12d final
Variants: 88210
Novel Variants: 1316 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 88210 50199 0/1 37787 1/1 224 1/2
Total Gene-associated SNVs 88210 50199 0/1 37787 1/1 224 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION119
CODON_CHANGE_PLUS_CODON_INSERTION88
CODON_DELETION50
CODON_INSERTION73
FRAME_SHIFT233
FRAME_SHIFT+SPLICE_SITE_REGION42
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED5
FRAME_SHIFT+STOP_LOST3
GENE_FUSION1
GENE_FUSION_REVERESE2
MOTIF_DELETED4
MOTIF[MA0003.1:Ap2alpha]18
MOTIF[MA0014.1:Pax5]3
MOTIF[MA0016.1:RXRA]2
MOTIF[MA0024.1:E2F1]4
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]2
MOTIF[MA0058.1:Max]11
MOTIF[MA0059.1:Cmyc]2
MOTIF[MA0062.1:Gabp]4
MOTIF[MA0062.2:Gabp]18
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0079.1:SP1]3
MOTIF[MA0079.2:SP1]18
MOTIF[MA0080.2:PU1]1
MOTIF[MA0083.1:Srf]1
MOTIF[MA0093.1:USF1]3
MOTIF[MA0095.1:Yy1]7
MOTIF[MA0099.2:AP1]1
MOTIF[MA0114.1:HNF4A]4
MOTIF[MA0138.2:Nrsf]2
MOTIF[MA0139.1:CTCF]53
MOTIF[MA0147.1:Cmyc]5
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0154.1:EBF]2
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]28
NON_SYNONYMOUS_CODING9687
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION210
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS238
SPLICE_SITE_REGION22
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING231
START_GAINED267
START_LOST15
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED85
STOP_LOST21
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING10562
SYNONYMOUS_STOP6
TRANSCRIPT5
None0

Type Total Variants
None0

Type Total Variants
HIGH656
LOW11192
MODERATE10229
MODIFIER101
None0

Type Total Variants
MG_INDEL_Filter82
MG_SNP_Filter683
PASS87445

Quality Value
Min30.1
Average1090.52127083096
Max44221.77

Read Depth Value
Min1
Average48.86182972452103
Max1431

Type Total Variants
None0

Chromossome Total Variants
18441
104173
115533
124720
131862
142619
152903
163209
175018
181463
195827
26506
202095
211239
222202
34885
43931
54142
64251
74946
83376
93656
X1196
Y17