Mendel,MD - Cloud Based Genome Analysis

Name: mm170233ac
Variants: 135703
Novel Variants: 1967 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	135703	294 1/2	80176 0/1	55233 1/1
Total Gene-associated SNVs	135703	294 1/2	80176 0/1	55233 1/1

Type	Total Variants
CODON_CHANGE_PLUS_CODON_DELETION	95
CODON_CHANGE_PLUS_CODON_DELETION+SPLICE_SITE_REGION	1
CODON_CHANGE_PLUS_CODON_INSERTION	62
CODON_DELETION	36
CODON_INSERTION	50
CODON_INSERTION+SPLICE_SITE_REGION	1
FRAME_SHIFT	152
FRAME_SHIFT+SPLICE_SITE_REGION	42
FRAME_SHIFT+START_LOST	4
FRAME_SHIFT+STOP_GAINED	3
FRAME_SHIFT+STOP_LOST	4
MOTIF_DELETED	1
MOTIF[MA0003.1:Ap2alpha]	22
MOTIF[MA0014.1:Pax5]	4
MOTIF[MA0016.1:RXRA]	1
MOTIF[MA0024.1:E2F1]	6
MOTIF[MA0035.2:Gata1]	1
MOTIF[MA0036.1:Gata2]	1
MOTIF[MA0058.1:Max]	16
MOTIF[MA0059.1:Cmyc]	4
MOTIF[MA0062.1:Gabp]	7
MOTIF[MA0062.2:Gabp]	31
MOTIF[MA0065.1:PPARG]	3
MOTIF[MA0079.1:SP1]	7
MOTIF[MA0079.2:SP1]	21
MOTIF[MA0080.1:PU1]	4
MOTIF[MA0080.2:PU1]	4
MOTIF[MA0083.1:Srf]	1
MOTIF[MA0093.1:USF1]	5
MOTIF[MA0095.1:Yy1]	10
MOTIF[MA0099.1:Cfos]	2
MOTIF[MA0099.2:AP1]	2
MOTIF[MA0114.1:HNF4A]	7
MOTIF[MA0138.1:Nrsf]	1
MOTIF[MA0138.2:Nrsf]	8
MOTIF[MA0139.1:CTCF]	80
MOTIF[MA0147.1:Cmyc]	12
MOTIF[MA0148.1:FOXA1]	1
MOTIF[MA0154.1:EBF]	4
MOTIF[MA0159.1:RXR]	3
MOTIF[MA0162.1:Egr1]	35
NON_SYNONYMOUS_CODING	11533
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	240
NON_SYNONYMOUS_START	2
PROTEIN_INTERACTION_LOCUS	51
SPLICE_SITE_REGION	38
SPLICE_SITE_REGION+SYNONYMOUS_CODING	255
START_GAINED	336
START_LOST	11
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION	1
STOP_GAINED	105
STOP_GAINED+SPLICE_SITE_REGION	3
STOP_LOST	27
STOP_LOST+SPLICE_SITE_REGION	2
SYNONYMOUS_CODING	11880
SYNONYMOUS_STOP	9
TRANSCRIPT	1
None	0

Type	Total Variants
.	130699
LowQual	5004