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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 1

Genes:
SPEF2,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 11
Number of Genes: 1

Export to: CSV
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SPEF2
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 013 final 5 rs13170082
dbSNP Clinvar 		35709095 1306.77 C T PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24344 0.56 0.00 None None None None None None SPEF2|0.057634008|60.51%
View 013 final 5 rs7710284
dbSNP Clinvar 		35692775 891.77 T A PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35703 0.35700 0.26075 0.42 0.00 None None None None None None SPEF2|0.057634008|60.51%
View 013 final 5 rs34708521
dbSNP Clinvar 		35670303 574.77 G A PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16214 0.16210 0.06858 0.14 1.00 None None None None None None SPEF2|0.057634008|60.51%
View 013 final 5 rs2270558
dbSNP Clinvar 		35654711 2337.77 C T PASS 1/1 86 SYNONYMOUS_CODING LOW SILENT 0.67712 0.67710 0.40804 None None None None None None SPEF2|0.057634008|60.51%
View 013 final 5 rs7706444
dbSNP Clinvar 		35644621 1370.77 T C PASS 1/1 47 SYNONYMOUS_CODING LOW SILENT 0.78415 0.78410 0.31537 None None None None None None SPEF2|0.057634008|60.51%
View 013 final 5 rs10941252
dbSNP Clinvar 		35643615 1589.77 G A PASS 0/1 149 None None None None None None None None None SPEF2|0.057634008|60.51%
View 013 final 5 rs139855000
dbSNP Clinvar 		35641619 771.77 A G PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00759 0.00759 0.00008 0.17 0.04 None None None None None None SPEF2|0.057634008|60.51%
View 013 final 5 rs6897513
dbSNP Clinvar 		35641582 1664.77 A C PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67911 0.67910 0.40428 1.00 0.00 None None None None None None SPEF2|0.057634008|60.51%
View 013 final 5 rs182127258
dbSNP Clinvar 		35789753 795.77 G A PASS 0/1 80 None None None 0.00759 0.00759 0.01 0.18 None None None None None None SPEF2|0.057634008|60.51%
View 013 final 5 rs4242258
dbSNP Clinvar 		35764696 4029.77 C T PASS 1/1 138 None None None 0.87959 0.87960 0.00 None None None None None None SPEF2|0.057634008|60.51%
View 013 final 5 rs13170390
dbSNP Clinvar 		35709184 1186.77 G C PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24391 0.32 0.00 None None None None None None SPEF2|0.057634008|60.51%
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