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 at Omim

IFT52,
IFT52 Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 12
Number of Genes: 4

Export to: CSV
  • Page 1 of 1

IFT52

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 60820188472777 cnv 20 . 42271064 24.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None IFT52|0.386520609|21.64%

OPRL1

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 60820188472777 cnv 20 . 62721881 21.0 N <DEL> cnvLength 0/1 0 EXON_DELETED HIGH None None None None None None OPRL1|0.253276549|31.26%

RP4-576H24.4

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 60820188472777 cnv 20 . 1560265 75.0 N <DEL> PASS 1/1 0 EXON_DELETED+SPLICE_SITE_REGION HIGH None None None None None None SIRPB1|0.000916785|95.94%

TAF4

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 60820188472777 cnv 20 . 60639238 20.0 N <DEL> cnvLength 0/1 0 MOTIF_DELETED LOW None None None None None None TAF4|0.088611939|53.52%
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 60820188472777 cnv 20 . 33241205 22.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None PIGU|0.490342745|16.3%
View 60820188472777 cnv 20 . 26296379 48.0 N <DEL> cnvLength 1/1 0 None None None None None None None None None None
View 60820188472777 cnv 20 . 25701309 22.0 N <DUP> cnvLength ./1 0 None None None None None None None None None None
View 60820188472777 cnv 20 . 3878258 22.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None PANK2|0.283390234|28.84%
View 60820188472777 cnv 20 . 61000 6.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None None
View 60820188472777 cnv 20 . 42480488 24.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None None
View 60820188472777 cnv 20 . 36065006 108.0 N <DUP> cnvLength ./1 0 None None None None None None None None None None
View 60820188472777 cnv 20 . 34819282 108.0 N <DUP> cnvLength ./1 0 EXON MODIFIER None None None None None None EPB41L1|0.527475951|14.68%
  • Page 1 of 1