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

BRCA2, ERCC5,
BRCA2 {Prostate cancer}, 176807 (3)
{Pancreatic cancer 2}, 613347 (3)
{Medulloblastoma}, 155255 (3)
{Glioblastoma 3}, 613029 (3)
{Breast-ovarian cancer, familial, 2}, 612555 (3)
{Breast cancer, male, susceptibility to}, 114480 (3)
Wilms tumor, 194070 (3)
Fanconi anemia, complementation group D1, 605724 (3)
ERCC5 Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
Xeroderma pigmentosum, group G, 278780 (3)
Cerebrooculofacioskeletal syndrome 3, 616570 (3)

Genes at Clinical Genomics Database

BRCA2, ERCC5,
BRCA2 Medulloblastoma
Wilms tumor
Fanconi anemia, complementation group D1
Glioma susceptibility 3
Pancreatic cancer, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to
ERCC5 Xeroderma pigmentosum, group G/Cockayne syndrome
Xeroderma pigmentosum, group G

Genes at HGMD

Summary

Number of Variants: 16
Number of Genes: 2

Export to: CSV

BRCA2

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 13 rs206075
dbSNP
32913055 4119.29 A G PASS 1/1 147 SYNONYMOUS_CODING LOW SILENT 0.97404 0.97400 0.02423 None None None None None None None
View pc751_s1 13 rs206076
dbSNP
32915005 3483.35 G C PASS 1/1 108 SYNONYMOUS_CODING LOW SILENT 0.00040 0.97360 0.02453 None None None None None None None
View pc751_s1 13 rs169547
dbSNP
32929387 1014.37 T C PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97584 0.97580 0.02230 1.00 0.00 None None None None None None None
View pc751_s1 13 rs1799955
dbSNP
32929232 854.65 A G PASS 0/1 61 SYNONYMOUS_CODING LOW SILENT 0.23263 0.23260 0.21136 None None None None None None None
View pc751_s1 13 rs1801406
dbSNP
32911888 1095.0 A G PASS 0/1 116 SYNONYMOUS_CODING LOW SILENT 0.26677 0.26680 0.27984 None None None None None None None
View pc751_s1 13 rs543304
dbSNP
32912299 1771.58 T C PASS 0/1 130 SYNONYMOUS_CODING LOW SILENT 0.16813 0.16810 0.19111 None None None None None None None

ERCC5

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 13 rs17655
dbSNP
103528002 1562.14 G C PASS 0/1 168 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36142 0.36140 0.30578 0.00 0.86 None None None None None None None
View pc751_s1 13 rs9514067
dbSNP
103527930 4039.84 G C PASS 1/1 137 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00100 0.99720 0.00254 0.75 0.00 None None None None None None None
View pc751_s1 13 rs9514066
dbSNP
103527849 3019.87 G C PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99820 0.99820 0.00254 0.09 0.85 None None None None None None None
View pc751_s1 13 rs1047768
dbSNP
103504517 2773.0 T C PASS 0/1 214 SYNONYMOUS_CODING LOW SILENT 0.49301 0.49300 0.38821 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 13 rs9600079
dbSNP
73728139 3838.58 G T PASS 1/1 162 None None None 0.46026 0.46030 None None None None None None None
View pc751_s1 13 rs9573163
dbSNP
73908846 2750.55 C G PASS 1/1 104 None None None 0.48682 0.48680 None None None None None None None
View pc751_s1 13 rs9543325
dbSNP
73916628 3574.57 C T PASS 1/1 140 None None None 0.45947 0.45950 None None None None None None None
View pc751_s1 13 rs7335046
dbSNP
100041738 544.03 G C PASS 0/1 71 None None None 0.73083 0.73080 None None None None None None None
View pc751_s1 13 rs753955
dbSNP
24293859 2329.67 A G PASS 1/1 96 None None None 0.44409 0.44410 None None None None None None None
View pc751_s1 13 rs1572072
dbSNP
24127210 1082.36 G T PASS 0/1 126 None None None 0.35563 0.35560 None None None None None None None