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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:
UMODL1,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 1

Export to: CSV
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UMODL1
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 46651510241455_annotated 21 rs7278485
dbSNP Clinvar 		43504228 1627.77 T C PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.66733 0.66730 0.32802 None None None None None None UMODL1|0.002901681|88.83%
View 46651510241455_annotated 21 rs73371577
dbSNP Clinvar 		43505436 1202.77 G A PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.06090 0.06090 0.01856 0.00 0.64 None None None None None None UMODL1|0.002901681|88.83%
View 46651510241455_annotated 21 rs220109
dbSNP Clinvar 		43522349 5353.77 T C PASS 1/1 175 SYNONYMOUS_CODING LOW None 0.54233 0.54230 0.47503 None None None None None None UMODL1|0.002901681|88.83%,UMODL1-AS1|0.000431351|98.79%
View 46651510241455_annotated 21 rs220126
dbSNP Clinvar 		43531008 4756.77 T C PASS 1/1 165 NON_SYNONYMOUS_CODING MODERATE None 0.76817 0.76820 0.24526 1.00 0.00 None None None None None None UMODL1|0.002901681|88.83%
View 46651510241455_annotated 21 rs220128
dbSNP Clinvar 		43531553 2147.77 A C PASS 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.41613 0.41610 0.42220 1.00 0.00 None None None None None None UMODL1|0.002901681|88.83%
View 46651510241455_annotated 21 rs220129
dbSNP Clinvar 		43531632 4491.77 T C PASS 1/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.78035 0.78040 0.23366 1.00 0.00 None None None None None None UMODL1|0.002901681|88.83%
View 46651510241455_annotated 21 rs220159
dbSNP Clinvar 		43547873 2444.77 G A PASS 0/1 173 NON_SYNONYMOUS_CODING MODERATE None 0.35783 0.35780 0.33723 1.00 0.00 None None None None None None UMODL1|0.002901681|88.83%
View 46651510241455_annotated 21 rs3819142
dbSNP Clinvar 		43557698 1950.77 A C PASS 0/1 188 NON_SYNONYMOUS_CODING MODERATE None 0.22065 0.22060 0.17220 0.02 0.79 None None None None None None UMODL1|0.002901681|88.83%
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