+ Filter Options

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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 0

Export to: CSV
  • Page 1 of 1
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 t30541_annotated_calls 9 rs617010
dbSNP Clinvar 		106761956 147.0 G T PASS 1/0 0 MOTIF[MA0062.1:Gabp] LOW None 0.26238 0.26240 None None None None None None None
View t30541_annotated_calls 10 rs9325444
dbSNP Clinvar 		91461268 110.0 T G PASS 1/1 0 MOTIF[MA0062.1:Gabp] MODIFIER None 0.47304 0.47300 None None None None None None None
View t30541_annotated_calls 11 rs11217125
dbSNP Clinvar 		118889185 56.0 T C PASS 0/1 0 MOTIF[MA0062.1:Gabp] MODIFIER None 0.27077 0.27080 None None None None None None RPS25|0.414981471|19.87%,TRAPPC4|0.703226976|8.41%
View t30541_annotated_calls 19 rs648651
dbSNP Clinvar 		56186483 157.0 T C PASS 1/1 0 MOTIF[MA0062.1:Gabp] MODIFIER None 0.75220 0.75220 None None None None None None None
View t30541_annotated_calls 2 rs2305161
dbSNP Clinvar 		177134172 8.0 C T PASS 0/1 0 MOTIF[MA0062.1:Gabp] LOW None 0.24820 0.24820 None None None None None None MTX2|0.824376132|5.2%
View t30541_annotated_calls 7 rs6460173
dbSNP Clinvar 		64126500 200.0 G A PASS 1/1 0 MOTIF[MA0062.1:Gabp] LOW None 0.32029 0.32030 None None None None None None None
View t30541_annotated_calls 8 rs56316188
dbSNP Clinvar 		59323811 76.0 A G PASS 0/1 0 MOTIF[MA0062.1:Gabp] LOW None 0.24581 0.24580 None None None None None None None
View t30541_annotated_calls 10 rs7922050
dbSNP Clinvar 		16479007 200.0 C G PASS 1/0 0 MOTIF[MA0062.1:Gabp] MODIFIER None 0.66374 0.66370 None None None None None None PTER|0.605865305|11.6%
  • Page 1 of 1