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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 0

Export to: CSV
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Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sm007-1 both 19 rs768150152
dbSNP Clinvar 		3985336 2132.77 C T . 0/1 172 MOTIF[MA0079.2:SP1] LOW None None None None None None None EEF2|0.187836945|38.07%
View sm007-1 both 6 rs771342556
dbSNP Clinvar 		32095996 173.77 A C . 0/1 98 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None ATF6B|0.118552355|47.66%
View sm007-1 both 10 rs2797078
dbSNP Clinvar 		27529549 5670.77 C A . 1/1 166 MOTIF[MA0079.2:SP1] LOW None 0.67712 0.67710 0.27464 None None None None None None ACBD5|0.116795914|47.98%
View sm007-1 both 19 rs560133510,rs61466254
dbSNP Clinvar 		46195051 631.73 G GC . 0/1 55 MOTIF[MA0079.2:SP1] LOW None 0.20068 0.20070 None None None None None None SNRPD2|0.87017427|4.2%
View sm007-1 both 22 rs2070766
dbSNP Clinvar 		24237221 682.77 C G . 0/1 52 MOTIF[MA0079.2:SP1] LOW None 0.17352 0.17350 0.13856 None None None None None None MIF|0.352183586|23.93%
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