+ 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: 6
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 combined sample_39.variant3 1 . 186345125 316.69 AGTGT AG... PASS 4/1 19 None None None None None None None None None C1orf27|0.156625253|42.08%
View combined sample_39.variant3 6 . 154610898 2110.01 GAAAA GA... PASS 4/1 168 None None None None None None None None None IPCEF1|0.117169041|47.92%
View combined sample_39.variant3 4 . 946262 509.6 CT... CT... PASS 4/1 19 None None None None None None None None None TMEM175|0.023698185|72.33%
View combined sample_39.variant3 3 rs878937818
dbSNP Clinvar 		69025792 3676.65 CGT CG... PASS 4/1 131 None None None None None None None None None EOGT|0.11984929|47.48%
View combined sample_39.variant3 5 rs149827871
dbSNP Clinvar 		81550718 4106.45 AGT AG... PASS 4/1 124 None None None None None None None None None ATG10|0.133054505|45.45%
View combined sample_39.variant3 12 rs63397860,rs60146346
dbSNP Clinvar 		79843703 2626.04 CGTGT CG... PASS 4/1 109 None None None None None None None None None SYT1|0.883250678|3.9%
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