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INDIVIDUALS:

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 GROUPS:

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GENE LIST:
INDIVIDUALS:

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 EXCLUDE GROUPS:

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OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

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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
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SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

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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

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EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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CADD

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EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 2

Genes:
DHRS4L2, MRPS7,

+ Genes associated with diseases 1

Genes at Omim

MRPS7,
MRPS7 ?Combined oxidative phosphorylation deficiency 34, 617872 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 2

Export to: CSV
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DHRS4L2
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 mmg003343 14 rs2273946
dbSNP Clinvar 		24458162 381.77 G C PASS 0/1 43 MOTIF[MA0095.1:Yy1] LOW None 0.67392 0.67390 0.48408 0.95 0.00 None None None None None None DHRS4L2|0.007168249|83.32%

MRPS7
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 mmg003343 17 rs8075276
dbSNP Clinvar 		73257986 355.77 C T PASS 1/1 12 MOTIF[MA0095.1:Yy1] LOW None 0.65735 0.65730 0.34005 0.00 0.01 None None None None None None GGA3|0.125773495|46.52%,MRPS7|0.30443526|27.34%
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 mmg003343 15 rs4374117
dbSNP Clinvar 		63340647 193.84 A G LowCoverage 1/1 6 MOTIF[MA0095.1:Yy1] LOW None 0.99361 0.99360 None None None None None None TPM1|0.978525529|1.5%
View mmg003343 16 rs42139
dbSNP Clinvar 		21531609 532.77 C T PASS 0/1 131 MOTIF[MA0095.1:Yy1] LOW None None None None None None None None
View mmg003343 17 rs4788868
dbSNP Clinvar 		73127971 108.9 A T LowCoverage 1/1 5 MOTIF[MA0095.1:Yy1] MODIFIER None 0.99760 0.99760 None None None None None None None
View mmg003343 X rs5902404,rs869231316
dbSNP Clinvar 		47863551 38.7 G GC LowCoverage;LowQual 1/1 2 MOTIF[MA0095.1:Yy1] LOW None 0.99974 0.99970 None None None None None None ZNF630|0.00523437|85.53%
View mmg003343 17 rs3785793
dbSNP Clinvar 		6659324 1086.77 A G PASS 0/1 78 MOTIF[MA0095.1:Yy1] LOW None 0.60723 0.60720 0.46343 None None None None None None XAF1|0.002684279|89.28%
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