Mendel,MD | Dashboard

Name: 2020-005022-full_variant_table
Variants: 44679
Novel Variants: 2453 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	44679	27795 0/1	16884 1/1
Total Gene-associated SNVs	44679	27795 0/1	16884 1/1

Type	Total Variants
CODON_CHANGE_PLUS_CODON_DELETION	100
CODON_CHANGE_PLUS_CODON_INSERTION	29
CODON_DELETION	42
CODON_INSERTION	30
FRAME_SHIFT	54
FRAME_SHIFT+SPLICE_SITE_REGION	8
FRAME_SHIFT+START_LOST	1
FRAME_SHIFT+STOP_GAINED	2
FRAME_SHIFT+STOP_LOST	1
MOTIF_DELETED	2
MOTIF[MA0003.1:Ap2alpha]	6
MOTIF[MA0014.1:Pax5]	4
MOTIF[MA0016.1:RXRA]	1
MOTIF[MA0024.1:E2F1]	3
MOTIF[MA0035.2:Gata1]	1
MOTIF[MA0058.1:Max]	5
MOTIF[MA0059.1:Cmyc]	2
MOTIF[MA0062.1:Gabp]	1
MOTIF[MA0062.2:Gabp]	6
MOTIF[MA0065.1:PPARG]	1
MOTIF[MA0065.2:PPARG]	1
MOTIF[MA0079.1:SP1]	3
MOTIF[MA0079.2:SP1]	8
MOTIF[MA0080.2:PU1]	1
MOTIF[MA0093.1:USF1]	2
MOTIF[MA0095.1:Yy1]	2
MOTIF[MA0099.1:Cfos]	2
MOTIF[MA0099.2:AP1]	1
MOTIF[MA0114.1:HNF4A]	1
MOTIF[MA0138.2:Nrsf]	3
MOTIF[MA0139.1:CTCF]	24
MOTIF[MA0148.1:FOXA1]	1
MOTIF[MA0154.1:EBF]	1
MOTIF[MA0162.1:Egr1]	12
NON_SYNONYMOUS_CODING	4168
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	98
NON_SYNONYMOUS_START	1
PROTEIN_PROTEIN_INTERACTION_LOCUS	1
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	148
SPLICE_SITE_REGION	6
SPLICE_SITE_REGION+SYNONYMOUS_CODING	103
START_GAINED	84
START_LOST	4
STOP_GAINED	34
STOP_GAINED+CODON_INSERTION	1
STOP_LOST	10
SYNONYMOUS_CODING	5027
SYNONYMOUS_STOP	3
TRANSCRIPT	1
None	0

Type	Total Variants
homopolymer_region	74
homopolymer_region;off_target	175
low_coverage	57
low_coverage;homopolymer_region;off_target	1
low_coverage;low_variant_fraction;off_target	2
low_coverage;off_target	5843
low_variant_fraction	985
low_variant_fraction;off_target	860
off_target	25349
PASS	11333

Type	Total Variants
None	0