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

FANCD2, GATA2, MLH1, XPC,
FANCD2 Fanconi anemia, complementation group D2, 227646 (3)
GATA2 {Myelodysplastic syndrome, susceptibility to}, 614286 (3)
{Leukemia, acute myeloid, susceptibility to}, 601626 (3)
Immunodeficiency 21, 614172 (3)
Emberger syndrome, 614038 (3)
MLH1 Muir-Torre syndrome, 158320 (3)
Mismatch repair cancer syndrome, 276300 (3)
Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3)
XPC Xeroderma pigmentosum, group C, 278720 (3)

Genes at Clinical Genomics Database

FANCD2, GATA2, MLH1, XPC,
FANCD2 Fanconi anemia, complementation group D2
GATA2 Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia
Acute myeloid leukemia, familial
Myelodysplastic syndrome
Emberger syndrome
Immunodeficiency 21
MLH1 Muir-Torre syndrome
Endometrial cancer
Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
XPC Xeroderma pigmentosum, group C

Genes at HGMD

Summary

Number of Variants: 25
Number of Genes: 6

Export to: CSV

FANCD2

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 3 rs72492998
dbSNP
10088308 591.34 T C PASS 0/1 110 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View pc751_s1 3 rs72492997
dbSNP
10088266 400.68 G T PASS 0/1 65 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None
View pc751_s1 3 rs112887807
dbSNP
10088299 590.73 C T PASS 0/1 95 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View pc751_s1 3 rs764447374
dbSNP
10088404 200.86 C T PASS 0/1 57 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View pc751_s1 3 rs12330369
dbSNP
10089723 1919.91 G A PASS 0/1 350 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View pc751_s1 3 rs73126218
dbSNP
10088343 616.3 A G PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42 0.02 None None None None None None None

GATA2

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 3 rs1573858
dbSNP
128205860 243.59 G C PASS 0/1 32 SYNONYMOUS_CODING LOW SILENT 0.70986 0.70990 0.30661 None None None None None None None

MLH1

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 3 rs1799977
dbSNP
37053568 1092.02 A G PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12959 0.12960 0.24297 0.33 0.11 None None None None None None None
View pc751_s1 3 rs63751630
dbSNP
37081683 619.3 G A PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53 0.00 None None None None None None None

MYNN

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 3 rs10936599
dbSNP
169492101 944.36 C T PASS 0/1 116 SYNONYMOUS_CODING LOW SILENT 0.27057 0.27060 0.18707 None None None None None None None

ULK4

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 3 rs1052501
dbSNP
41925398 2470.14 C T PASS 1/1 99 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68850 0.68850 0.31690 1.00 0.00 None None None None None None None

XPC

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 3 rs2958057
dbSNP
14197987 3050.82 A T PASS 1/1 110 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 None None None None None None None
View pc751_s1 3 rs2227998
dbSNP
14193889 1589.97 C T PASS 0/1 148 SYNONYMOUS_CODING LOW SILENT 0.23542 0.23540 0.26583 None None None None None None None
View pc751_s1 3 rs2228001
dbSNP
14187449 686.94 G T PASS 0/1 97 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68470 0.68470 0.35794 1.00 0.00 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 3 rs9841504
dbSNP
114362764 778.83 C G PASS 0/1 82 None None None 0.19050 0.19050 None None None None None None None
View pc751_s1 3 rs17272796
dbSNP
17077268 1840.18 C T PASS 1/1 80 None None None 0.63359 0.63360 0.43408 None None None None None None None
View pc751_s1 3 rs10934853
dbSNP
128038373 710.66 C A PASS 0/1 89 None None None 0.51478 0.51480 None None None None None None None
View pc751_s1 3 rs161792
dbSNP
151899704 335.45 T A PASS 0/1 42 None None None 0.72804 0.72800 None None None None None None None
View pc751_s1 3 rs6774494
dbSNP
169082633 863.45 G A PASS 0/1 82 None None None 0.48403 0.48400 None None None None None None None
View pc751_s1 3 rs10936632
dbSNP
170130102 323.31 C A PASS 0/1 42 None None None 0.35224 0.35220 None None None None None None None
View pc751_s1 3 rs4488809
dbSNP
189356261 786.52 T C PASS 0/1 61 None None None 0.42013 0.42010 None None None None None None None
View pc751_s1 3 rs2660753
dbSNP
87110674 966.51 T C PASS 0/1 86 None None None 0.70627 0.70630 None None None None None None None
View pc751_s1 3 rs710521
dbSNP
189645933 1207.84 T C PASS 0/1 120 None None None 0.20367 0.20370 None None None None None None None
View pc751_s1 3 rs2131877
dbSNP
194858374 762.57 G A PASS 0/1 68 None None None 0.30272 0.30270 None None None None None None None
View pc751_s1 3 rs17181170
dbSNP
87173324 635.71 G A PASS 0/1 64 None None None 0.31929 0.31930 None None None None None None None