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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

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CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

CD207, EMG1, FAM58A, PRKDC, RECQL4, SLC37A4, SLC46A1,
CD207 [?Birbeck granule deficiency], 613393 (3)
EMG1 Bowen-Conradi syndrome, 211180 (3)
FAM58A STAR syndrome, 300707 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
SLC37A4 Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)

Genes at Clinical Genomics Database

CD207, EMG1, FAM58A, PRKDC, RECQL4, SLC37A4, SLC46A1,
CD207 Birbeck granule deficiency
EMG1 Bowen-Conradi syndrome
FAM58A STAR syndrome
Toe syndactyly, telecanthus, and anogenital and renal malformations
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
SLC37A4 Glycogen storage disease Ib
Glycogen storage disease Ic
Glycogen storage disease Id
SLC46A1 Folate malabsorption, hereditary

Genes at HGMD

Summary

Number of Variants: 16
Number of Genes: 10

Export to: CSV
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CD207

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 09pla02101_s1 genome 2 rs11450450,rs397692276
dbSNP Clinvar
71062833 1897.47 G GC PASS 1/1 46 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00025 None None None None None None CD207|0.004253024|86.68%

CLTCL1

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 09pla02101_s1 genome 22 rs11386977
dbSNP Clinvar
19189003 3790.56 A AC PASS 1/1 95 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00051 None None None None None None CLTCL1|0.022666116|72.86%

CYP4B1

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 09pla02101_s1 genome 1 rs3215983
dbSNP Clinvar
47280746 4334.56 GAT G PASS 0/1 159 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.13538 0.13540 0.11430 None None None None None None CYP4B1|0.038794091|66.17%
View 09pla02101_s1 genome 1 . 47280747 165.44 A . PASS 0 73 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.13538 0.13540 0.11430 None None None None None None CYP4B1|0.038794091|66.17%
View 09pla02101_s1 genome 1 . 47280748 156.54 T . PASS 0 75 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.13538 0.13540 0.11430 None None None None None None CYP4B1|0.038794091|66.17%

EMG1

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 09pla02101_s1 genome 12 rs60117710
dbSNP Clinvar
7080210 3656.64 A AG PASS 1/1 94 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00395 None None None None None None EMG1|0.122491052|47.03%

FAM58A

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 09pla02101_s1 genome X rs199537978
dbSNP Clinvar
152864477 627.86 G GC PASS 1/1 19 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.04871 None None None None None None FAM58A|0.05294971|61.79%

PRB3

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 09pla02101_s1 genome 12 rs3842295
dbSNP Clinvar
11420333 286.43 AG A LowGQ;LowGQX 1/1 11 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.82408 0.82410 0.10774 None None None None None None PRB3|0.000537603|98.24%
View 09pla02101_s1 genome 12 . 11420334 0.0 G . LowGQX . 3 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.82408 0.82410 0.10774 None None None None None None PRB3|0.000537603|98.24%

PRKDC

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 09pla02101_s1 genome 8 rs11411516,rs397814002
dbSNP Clinvar
48805816 5436.47 A AG PASS 1/1 130 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00078 None None None None None None PRKDC|0.642781418|10.36%

RECQL4

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 09pla02101_s1 genome 8 rs11342077,rs398010167
dbSNP Clinvar
145738767 7173.0 CG C PASS 1/1 171 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 None None None None None None RECQL4|0.005456729|85.27%
View 09pla02101_s1 genome 8 . 145738768 0.0 G . LowGQX . 0 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 None None None None None None RECQL4|0.005456729|85.27%

SLC37A4

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 09pla02101_s1 genome 11 rs56966114,rs547203028
dbSNP Clinvar
118898435 6771.86 AC A PASS 1/1 175 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 None None None None None None SLC37A4|0.255014905|31.13%
View 09pla02101_s1 genome 11 . 118898436 0.0 C . LowGQX . 20 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 None None None None None None SLC37A4|0.255014905|31.13%

SLC46A1

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 09pla02101_s1 genome 17 rs5819844,rs561780114
dbSNP Clinvar
26727721 6780.31 GA G PASS 1/1 160 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00033 None None None None None None SARM1|0.349245398|24.19%,SLC46A1|0.07823181|55.6%
View 09pla02101_s1 genome 17 . 26727722 0.0 A . LowGQX . 1 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00033 None None None None None None SARM1|0.349245398|24.19%,SLC46A1|0.07823181|55.6%
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