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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
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Genes at Omim

ALDH18A1, CHST3, CUBN, DHTKD1, DNA2, ERCC6, IL2RA, KIAA1279, MYPN, NFKB2, PAX2, PDE6C, PHYH, PRKG1, RBM20, RET, SFXN4, WDR11, ZMYND11,
ALDH18A1 Cutis laxa, autosomal dominant 3, 616603 (3)
Cutis laxa, autosomal recessive, type IIIA, 219150 (3)
Spastic paraplegia 9A, autosomal dominant, 601162 (3)
Spastic paraplegia 9B, autosomal recessive, 616586 (3)
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
CUBN Megaloblastic anemia-1, Finnish type, 261100 (3)
DHTKD1 2-aminoadipic 2-oxoadipic aciduria, 204750 (3)
?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
DNA2 ?Seckel syndrome 8, 615807 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3)
ERCC6 Cerebrooculofacioskeletal syndrome 1, 214150 (3)
Cockayne syndrome, type B, 133540 (3)
De Sanctis-Cacchione syndrome, 278800 (3)
Premature ovarian failure 11, 616946 (3)
UV-sensitive syndrome 1, 600630 (3)
{Lung cancer, susceptibility to}, 211980 (3)
{Macular degeneration, age-related, susceptibility to 5}, 613761 (3)
IL2RA Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3)
{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3)
KIAA1279 Goldberg-Shprintzen megacolon syndrome, 609460 (3)
MYPN Cardiomyopathy, dilated, 1KK, 615248 (3)
Cardiomyopathy, familial restrictive, 4, 615248 (3)
Cardiomyopathy, hypertrophic, 22, 615248 (3)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
PAX2 Glomerulosclerosis, focal segmental, 7, 616002 (3)
Papillorenal syndrome, 120330 (3)
PDE6C Cone dystrophy 4, 613093 (3)
PHYH Refsum disease, 266500 (3)
PRKG1 Aortic aneurysm, familial thoracic 8, 615436 (3)
RBM20 Cardiomyopathy, dilated, 1DD, 613172 (3)
RET Central hypoventilation syndrome, congenital, 209880 (3)
Medullary thyroid carcinoma, 155240 (3)
Multiple endocrine neoplasia IIA, 171400 (3)
Multiple endocrine neoplasia IIB, 162300 (3)
Pheochromocytoma, 171300 (3)
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
SFXN4 Combined oxidative phosphorylation deficiency 18, 615578 (3)
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)
ZMYND11 Mental retardation, autosomal dominant 30, 616083 (3)

Genes at Clinical Genomics Database

ALDH18A1, CHST3, CUBN, DHTKD1, DNA2, ERCC6, IL2RA, MYPN, NFKB2, PAX2, PDE6C, PHYH, PRKG1, RBM20, RET, SFXN4, WDR11, ZMYND11,
ALDH18A1 Spastic paraplegia 9B, autosomal recessive
Cutis laxa, autosomal recessive, type IIIA
Spastic paraplegia 9A, autosomal dominant
Cutis laxa, autosomal dominant 3
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations
CUBN Megaloblastic anemia-1, Finnish type
DHTKD1 2-aminoadipic and 2-oxoadipic aciduria
Charcot-Marie-Tooth disease, type 2Q
DNA2 Seckel syndrome 8
Progressive external ophthalmoplegia with mitochondrial deletions, autosomal dominant, 6
ERCC6 Premature ovarian failure 11 (AD)
De Sanctis-Cacchione syndrome
Xeroderma Pigmentosum-Cockayne Syndrome
IL2RA Interleukin 2 receptor, alpha, deficiency of
MYPN Cardiomyopathy, familial restrictive, 4
Cardiomyopathy, familial hypertrophic, 22
Cardiomyopathy, dilated, 1KK
NFKB2 Immunodeficiency, common variable, 10
PAX2 Papillorenal syndrome
Isolated renal hypoplasia
PDE6C Cone dystrophy 4
PHYH Refsum disease
PRKG1 Aortic aneurysm, familial thoracic 8
RBM20 Cardiomyopathy, dilated, 1DD
RET Hirschsprung disease, susceptibility to 1
Pheochromocytoma
Medullary thyroid carcinoma, familial
Multiple endocrine neoplasia IIB
Multiple endocrine neoplasia, type IIA
Central hypoventilation syndrome, congenital
SFXN4 Combined oxidative phosphorylation deficiency 18
WDR11 Kallmann syndrome
Hypogonadotropic hypogonadism
ZMYND11 Mental retardation, autosomal domianant, 30

Genes at HGMD

Summary

Number of Variants: 5475
Number of Genes: 51

Export to: CSV

AL359878.1

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 23 recalibrated filtered postcgp gqfiltered 10 . 1018852 926.06 C T PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41 None None None None None None None

ALDH18A1

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 23 recalibrated filtered postcgp gqfiltered 10 . 97385107 23560.28 GA... G,* PASS 2/2 9 PROTEIN_INTERACTION_LOCUS HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 97388218 39252.32 T C PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

ANKRD16

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 23 recalibrated filtered postcgp gqfiltered 10 . 5925043 2539.92 T C PASS 1/1 14 SYNONYMOUS_CODING LOW None None None None None None None

BTAF1

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 23 recalibrated filtered postcgp gqfiltered 10 . 93702253 16.64 CA C PASS 0/1 43 FRAME_SHIFT HIGH None None None None None None None

CHST3

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 23 recalibrated filtered postcgp gqfiltered 10 . 73766998 1505.4 C T PASS 0/1 8 SYNONYMOUS_CODING LOW None None None None None None None

CUBN

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 23 recalibrated filtered postcgp gqfiltered 10 . 16990562 82901.34 A G PASS 1/1 57 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 16990591 3486.35 G A PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52 0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 16990560 82901.34 A C PASS 1/1 63 SYNONYMOUS_CODING LOW None None None None None None None

CYP2C18

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 23 recalibrated filtered postcgp gqfiltered 10 . 96480278 101246.3 A T PASS 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None

DHTKD1

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 23 recalibrated filtered postcgp gqfiltered 10 . 12149934 98727.59 C T PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 12160867 52362.59 A T PASS 0/1 62 SYNONYMOUS_CODING LOW None None None None None None None

DNA2

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 23 recalibrated filtered postcgp gqfiltered 10 . 70204720 876.92 A G PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.97 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 70202721 989.7 G A PASS 0/1 95 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 70204718 876.95 A G PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 70204780 2083.48 T A PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29 0.03 None None None None None None None

DNAJC1

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 23 recalibrated filtered postcgp gqfiltered 10 . 22208781 337.38 C T PASS 0/1 15 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 22209820 9472.38 A T PASS 1/1 96 SYNONYMOUS_CODING LOW -1.34 None None None None None None None

ERCC6

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 23 recalibrated filtered postcgp gqfiltered 10 . 50684287 40.63 T C PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16 0.07 None None None None None None None

FAM160B1

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 23 recalibrated filtered postcgp gqfiltered 10 . 116620999 25626.79 A G PASS 1/1 35 SYNONYMOUS_CODING LOW None None None None None None None

FAM178A

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 23 recalibrated filtered postcgp gqfiltered 10 . 102685788 47598.77 AG A PASS 0/1 277 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 102676884 19480.39 C T PASS 0/1 86 STOP_GAINED HIGH NONSENSE None None None None None None None

FAM24A

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 23 recalibrated filtered postcgp gqfiltered 10 . 124671189 1639.27 T G PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17 0.15 None None None None None None None

FBXO18

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 23 recalibrated filtered postcgp gqfiltered 10 . 5960405 131724.23 T G PASS 0/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52 0.02 -1.67 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 5953089 5475.35 C T PASS 0/1 55 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

GBF1

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 23 recalibrated filtered postcgp gqfiltered 10 . 104122297 627.59 A C PASS 0/1 13 SYNONYMOUS_CODING LOW SILENT None None None None None None None

HECTD2

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 23 recalibrated filtered postcgp gqfiltered 10 . 93258687 282.84 G A PASS 0/1 20 SYNONYMOUS_CODING LOW None None None None None None None

HTR7

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 23 recalibrated filtered postcgp gqfiltered 10 . 92508590 287.89 AA... A PASS 0/1 19 None None None None None None None None None None

IDE

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 23 recalibrated filtered postcgp gqfiltered 10 . 94266217 49.81 C T PASS 0/1 3 SYNONYMOUS_CODING LOW SILENT None None None None None None None

IL2RA

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 23 recalibrated filtered postcgp gqfiltered 10 . 6061861 276.48 G C PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.93 None None None None None None None

KIAA1279

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 23 recalibrated filtered postcgp gqfiltered 10 . 70775309 3641.39 A G PASS 0/1 74 SYNONYMOUS_CODING LOW None None None None None None None

MALRD1

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 23 recalibrated filtered postcgp gqfiltered 10 . 19498489 798.1 T G PASS 0/1 55 SYNONYMOUS_CODING LOW 0.28 None None None None None None None

MAPK8

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 23 recalibrated filtered postcgp gqfiltered 10 . 49633978 656.22 C T PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30 0.00 None None None None None None None

MCMBP

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 23 recalibrated filtered postcgp gqfiltered 10 . 121598047 1562.2 C T PASS 0/1 114 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 1.00 None None None None None None None

MYPN

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 23 recalibrated filtered postcgp gqfiltered 10 . 69918302 5610.88 C G PASS 0/1 32 SYNONYMOUS_CODING LOW SILENT None None None None None None None

NFKB2

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 23 recalibrated filtered postcgp gqfiltered 10 . 104161232 21370.78 G GT PASS 1/1 10 FRAME_SHIFT HIGH None None None None None None None

PAX2

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 23 recalibrated filtered postcgp gqfiltered 10 . 102509460 43890.3 G A PASS 1/1 8 None None None 0.54 0.29 None None None None None None None

PDCD11

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 23 recalibrated filtered postcgp gqfiltered 10 . 105178352 3050.29 G T PASS 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None

PDE6C

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 23 recalibrated filtered postcgp gqfiltered 10 rs368349901
dbSNP
95381766 90120.25 G A PASS 1/1 51 SYNONYMOUS_CODING LOW SILENT 0.00008 None None None None None None None

PDZD8

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 23 recalibrated filtered postcgp gqfiltered 10 . 119044234 38921.27 T C PASS 0/1 8 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 119043923 12570.54 C T PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None

PFKP

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 23 recalibrated filtered postcgp gqfiltered 10 . 3143606 8265.95 T C PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15 0.10 None None None None None None None

PHYH

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 23 recalibrated filtered postcgp gqfiltered 10 rs367762012
dbSNP
13336445 17254.1 A G PASS 1/1 109 PROTEIN_INTERACTION_LOCUS HIGH 0.00008 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 rs773734063
dbSNP
13333906 90046.82 T C PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.40 None None None None None None None

PIK3AP1

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 23 recalibrated filtered postcgp gqfiltered 10 . 98388247 11316.39 T C PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 98411005 2220.98 C T PASS 0/1 37 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

PKD2L1

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 23 recalibrated filtered postcgp gqfiltered 10 . 102055985 98.03 C T PASS 0/1 10 SYNONYMOUS_CODING LOW None None None None None None None

PPRC1

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 23 recalibrated filtered postcgp gqfiltered 10 . 103900068 128670.93 T C PASS 1/1 62 SYNONYMOUS_CODING LOW SILENT -0.09 None None None None None None None

PRKG1

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 23 recalibrated filtered postcgp gqfiltered 10 . 53822312 210.63 G A PASS 0/1 20 PROTEIN_INTERACTION_LOCUS HIGH 1.00 0.00 1.95 None None rs114137983 2 not_specified 1 None

PYROXD2

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 23 recalibrated filtered postcgp gqfiltered 10 rs771844850
dbSNP
100152307 64263.57 T C PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26 0.00 1.50 None None None None None None None

RAB11FIP2

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 23 recalibrated filtered postcgp gqfiltered 10 . 119805347 18081.65 A G PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 119805503 16733.65 C G PASS 0/1 73 SYNONYMOUS_CODING LOW None None None None None None None

RBM20

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 23 recalibrated filtered postcgp gqfiltered 10 . 112404388 14270.73 T G PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.30 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 112404318 6077.52 C G PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25 0.01 None None None None None None None

RET

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 23 recalibrated filtered postcgp gqfiltered 10 . 43609065 5829.09 C A PASS 0/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None None

RUFY2

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 23 recalibrated filtered postcgp gqfiltered 10 . 70152908 1067.99 G A PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.95 None None None None None None None

SCD

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 23 recalibrated filtered postcgp gqfiltered 10 . 102107922 25.63 TG T PASS 0/1 7 FRAME_SHIFT HIGH None None None None None None None

SEMA4G

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 23 recalibrated filtered postcgp gqfiltered 10 rs756103359
dbSNP
102732950 35634.4 G C PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51 0.05 None None None None None None None

SFXN4

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 23 recalibrated filtered postcgp gqfiltered 10 . 120905798 21751.56 T A PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85 0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 120905773 59317.4 A C PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

SPOCK2

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 23 recalibrated filtered postcgp gqfiltered 10 . 73847938 104888.9 CA C PASS 1/1 18 FRAME_SHIFT HIGH None None None None None None None

TAF3

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 23 recalibrated filtered postcgp gqfiltered 10 . 8051071 19068.86 G T PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.22 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 8051222 4022.72 T C PASS 1/1 38 SYNONYMOUS_CODING LOW None None None None None None None

TAF5

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 23 recalibrated filtered postcgp gqfiltered 10 . 105147828 40594.1 C G PASS 1/1 33 SYNONYMOUS_CODING LOW None None None None None None None

UBTD1

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 23 recalibrated filtered postcgp gqfiltered 10 . 99330015 664.37 C A PASS 0/1 66 SYNONYMOUS_CODING LOW None None None None None None None

WDR11

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 23 recalibrated filtered postcgp gqfiltered 10 . 122618250 743.63 G A PASS 0/1 91 STOP_GAINED HIGH NONSENSE 5.33 None None None None None None None

ZMYND11

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 23 recalibrated filtered postcgp gqfiltered 10 . 283553 16686.99 C A PASS 0/1 22 SYNONYMOUS_CODING LOW None None None None None None None

ZSWIM8

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 23 recalibrated filtered postcgp gqfiltered 10 . 75552426 2339.91 C T,* PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.02 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 23 recalibrated filtered postcgp gqfiltered 10 . 133394432 4798.46 T C PASS 1/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133389378 439.08 C T PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133384411 157.95 C T PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133383710 1466.28 A G PASS 1/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133381386 29888.39 A G PASS 1/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133373302 2411.33 A G PASS 0/1 53 None None None -1.48 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133370917 13931.25 C G PASS 1/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133370622 41128.05 G A PASS 0/1 111 None None None 0.64 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133370205 15873.69 G T PASS 1/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133368841 1368.35 T C PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133366926 68528.41 A G PASS 1/1 44 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133365954 203307.2 G C PASS 0/1 33 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133365935 196.63 C G PASS 0/1 25 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133364583 44090.41 A C PASS 0/1 44 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133362754 1902.35 G A PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133362587 3864.89 G A PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133362340 1981.34 T C PASS 1/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133357860 1466.45 T C PASS 1/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133357148 283.11 C T PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133352803 1975.78 G A PASS 0/1 62 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133352286 197261.4 A G PASS 1/1 109 None None None -3.41 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133347446 27620.78 C T PASS 0/1 70 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133328068 9485.9 G T PASS 0/1 35 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133325892 200.75 C T PASS 0/1 20 None None None 0.66 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133313372 833.31 AG A PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133309219 1894.66 AG... A PASS 0/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133309003 1222.74 G A PASS 0/1 78 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133308733 423.28 C G PASS 0/1 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133308727 428.46 G C PASS 0/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133302655 362.27 G C PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133302644 311.31 C G PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 133299552 6230.28 C T PASS 0/1 80 None None None -0.26 None None None None None None None