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

CDH1, CYLD, ERCC4, SLX4,
CDH1 {Prostate cancer, susceptibility to}, 176807 (3)
{Breast cancer, lobular}, 114480 (3)
Ovarian carcinoma, somatic, 167000 (3)
Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215 (3)
Endometrial carcinoma, somatic, 608089 (3)
CYLD Trichoepithelioma, multiple familial, 1, 601606 (3)
Cylindromatosis, familial, 132700 (3)
Brooke-Spiegler syndrome, 605041 (3)
ERCC4 Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3)
Xeroderma pigmentosum, group F, 278760 (3)
Fanconi anemia, complementation group Q, 615272 (3)
?XFE progeroid syndrome, 610965 (3)
SLX4 Fanconi anemia, complementation group P, 613951 (3)

Genes at Clinical Genomics Database

CDH1, CYLD, ERCC4, SLX4,
CDH1 CDH1-related cancer
CYLD Cylindromatosis, familial
Trichoepithelioma, multiple familial, 1
Spiegler-Brooke syndrome
ERCC4 Xeroderma pigmentosum, group F
Fanconi anemia, complementation group Q
SLX4 Fanconi anemia type P

Genes at HGMD

Summary

Number of Variants: 16
Number of Genes: 4

Export to: CSV

CDH1

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 pc751_s1 16 rs1801552
dbSNP
68857441 2021.77 T C PASS 1/1 72 SYNONYMOUS_CODING LOW SILENT 0.71865 0.71870 0.28386 None None None None None None None

CYLD

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 pc751_s1 16 rs2066852
dbSNP
50827518 951.86 C T PASS 0/1 89 SYNONYMOUS_CODING LOW SILENT 0.07907 0.07907 0.06304 None None None None None None None

ERCC4

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 pc751_s1 16 rs2020953
dbSNP
14041916 846.49 A G PASS 0/1 74 SYNONYMOUS_CODING LOW SILENT 0.00579 0.00579 0.00924 None None None None None None None

SLX4

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 pc751_s1 16 rs78635099
dbSNP
3639058 1649.66 C T PASS 0/1 141 SYNONYMOUS_CODING LOW SILENT 0.02196 0.02196 0.02116 None None None None None None None
View pc751_s1 16 rs114014006
dbSNP
3640815 934.18 C G PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01797 0.01797 0.01816 0.11 0.42 None None None None None None None
View pc751_s1 16 rs114472821
dbSNP
3640715 1946.57 G A PASS 0/1 212 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00819 0.00819 0.00516 0.72 0.00 None None None None None None None
View pc751_s1 16 rs714181
dbSNP
3640274 1781.93 G A PASS 0/1 139 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23962 0.23960 0.21164 0.31 0.01 None None None None None None None
View pc751_s1 16 rs77699867
dbSNP
3639856 1999.19 C T PASS 0/1 167 SYNONYMOUS_CODING LOW SILENT 0.02196 0.02196 0.02094 None None None None None None None
View pc751_s1 16 rs116781836
dbSNP
3639676 2153.86 C T PASS 0/1 190 SYNONYMOUS_CODING LOW SILENT 0.01518 0.01518 0.00647 None None None None None None None
View pc751_s1 16 rs3810812
dbSNP
3639139 2570.0 A G PASS 1/1 93 SYNONYMOUS_CODING LOW SILENT 0.73962 0.73960 0.37340 None None None None None None None
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 pc751_s1 16 rs3112612
dbSNP
52635164 1966.05 G A PASS 1/1 77 None None None 0.52416 0.52420 None None None None None None None
View pc751_s1 16 rs4784227
dbSNP
52599188 1658.93 C T PASS 0/1 146 None None None 0.20008 0.20010 None None None None None None None
View pc751_s1 16 rs1528601
dbSNP
51098427 299.64 G C PASS 0/1 34 None None None 0.52895 0.52900 0.32110 None None None None None None None
View pc751_s1 16 rs9929218
dbSNP
68820946 1119.39 G A PASS 0/1 133 None None None 0.25759 0.25760 None None None None None None None
View pc751_s1 16 rs258322
dbSNP
89755903 2064.42 A G PASS 1/1 85 None None None 0.76378 0.76380 None None None None None None None
View pc751_s1 16 rs4785763
dbSNP
90066936 727.42 A C PASS 0/1 69 None None None 0.71965 0.71960 None None None None None None None