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INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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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
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Genes at Omim

CC2D2A, FGFR3, GUF1, KDR, KIT, LEF1, LRPAP1, PDGFRA, PROM1, PRSS12, RNF212, SH3BP2, SLC34A2, TRAPPC11, WDR19, WFS1,
CC2D2A COACH syndrome, 216360 (3)
Joubert syndrome 9, 612285 (3)
Meckel syndrome 6, 612284 (3)
FGFR3 Achondroplasia, 100800 (3)
Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
Hypochondroplasia, 146000 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
KDR Hemangioma, capillary infantile, somatic, 602089 (3)
{Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
KIT Gastrointestinal stromal tumor, familial, 606764 (3)
Germ cell tumors, 273300 (3)
Leukemia, acute myeloid, 601626 (3)
Mast cell disease, 154800 (3)
Piebaldism, 172800 (3)
LEF1 Sebaceous tumors, somatic (3)
LRPAP1 Myopia 23, autosomal recessive, 615431 (3)
PDGFRA Gastrointestinal stromal tumor, somatic, 606764 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PROM1 Cone-rod dystrophy 12, 612657 (3)
Macular dystrophy, retinal, 2, 608051 (3)
Retinitis pigmentosa 41, 612095 (3)
Stargardt disease 4, 603786 (3)
PRSS12 Mental retardation, autosomal recessive 1, 249500 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
SH3BP2 Cherubism, 118400 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
TRAPPC11 Muscular dystrophy, limb-girdle, type 2S, 615356 (3)
WDR19 ?Cranioectodermal dysplasia 4, 614378 (3)
?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3)
Nephronophthisis 13, 614377 (3)
Senior-Loken syndrome 8, 616307 (3)
WFS1 ?Cataract 41, 116400 (3)
Deafness, autosomal dominant 6/14/38, 600965 (3)
Wolfram syndrome, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)

Genes at Clinical Genomics Database

CC2D2A, FGFR3, KIT, LRPAP1, PDGFRA, PROM1, PRSS12, SH3BP2, SLC34A2, TRAPPC11, WDR19, WFS1,
CC2D2A COACH syndrome
Meckel syndrome 6
Joubert syndrome 9
FGFR3 Muenke syndrome
Lacrimoauriculodentodigital syndrome (AD)
Crouzon syndrome with acanthosis nigricans
Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
KIT Gastrointestinal stromal tumor
LRPAP1 Myopia 23, autosomal recessive
PDGFRA Gastrointestinal stromal tumor
PROM1 Retinitis pigmentosa 41
Stargardt disease 4
Macular dystrophy, retinal, 2
Cone-rod dystrophy 12
PRSS12 Mental retardation, autosomal recessive 1
SH3BP2 Cherubism
SLC34A2 Pulmonary alveolar microlithiasis
TRAPPC11 Limb-girdle muscular dystrophy, type 2S
WDR19 Senior-Loken syndrome 8
Retinitis pigmentosa
Nephronophthisis 13
Cranioectodermal dysplasia 4
Short-rib thoracic dysplasia 5 with or without polydactyly
WFS1 Wolfram syndrome

Genes at HGMD

Summary

Number of Variants: 4853
Number of Genes: 62

Export to: CSV

ADAMTS3

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 4 . 73149092 8644.84 A C PASS 0/1 12 SYNONYMOUS_CODING LOW None None None None None None None

AFF1

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 4 . 88036410 11497.61 T C PASS 0/1 7 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANKRD17

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 4 rs745660952
dbSNP
73981575 29274.36 G C PASS 1/1 121 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84 None None None None None None None

ATP5I

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 4 . 667723 13.63 GC G PASS 0/1 12 FRAME_SHIFT HIGH None None None None None None None

BOD1L1

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 4 . 13604952 202394.5 A T PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85 -2.72 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 13602558 28684.27 T C PASS 0/1 60 SYNONYMOUS_CODING LOW -0.46 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 13602794 36445.27 G C PASS 0/1 58 SYNONYMOUS_CODING LOW SILENT -0.96 None None None None None None None

BST1

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 4 . 15704879 12821.84 G GTC PASS 0/1 60 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 15704843 4619.46 T C PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.67 None None None None None None None

C4orf19

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 4 . 37590506 50407.17 G A PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 0.84 None None None None None None None

C4orf21

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 4 . 113505159 2363.67 G T PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.91 None None None None None None None

C4orf36

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 4 . 87811301 93548.1 C T PASS 0/1 4 None None None 0.00 0.00 None None None None None None None

CC2D2A

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 4 rs749544343
dbSNP
15480853 43582.81 A G PASS 0/1 52 None None None 0.22 0.39 None None None None None None None

CCDC96

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 4 . 7043930 3078.72 C A PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None

CLOCK

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 4 . 56345036 153.87 G A PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

CPEB2

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 4 . 15004479 277.41 T TGA PASS 0/1 6 FRAME_SHIFT HIGH None None None None None None None

CPZ

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 4 . 8605860 23832.29 G A PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

CWH43

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 4 . 48988459 31396.16 CTT CT... PASS 1/1 23 FRAME_SHIFT HIGH None None None None None None None

DCLK2

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 4 . 151120217 21.3 CA C PASS 0/1 9 FRAME_SHIFT HIGH None None None None None None None

FAM200B

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 4 . 15690435 1575.87 T C PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 15688610 1873.92 C A PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.00 0.06 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 15690513 1871.94 T C PASS 0/1 114 SYNONYMOUS_CODING LOW None None None None None None None

FAM53A

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 4 . 1657401 18116.77 T C PASS 0/1 29 SYNONYMOUS_CODING LOW None None None None None None None

FGFR3

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 4 . 1806167 59840.39 G A PASS 1/1 204 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.62 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 1803569 9584.23 G A PASS 1/1 3 SYNONYMOUS_CODING LOW SILENT None None None None None None None

GPR125

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 4 . 22438236 25803.94 G A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22 0.66 None None None None None None None

GPR78

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 4 . 8582784 4896.15 C A PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 8582721 19260.63 T C PASS 0/1 90 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 8582766 6352.47 C T PASS 0/1 40 SYNONYMOUS_CODING LOW SILENT None None None None None None None

GUF1

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 4 . 44682490 62693.89 C T PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 44683208 111000.83 T A PASS 1/1 8 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 44683207 110695.87 T TA PASS 1/1 6 FRAME_SHIFT HIGH None None None None None None None

KDR

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 4 . 55964439 2621.35 A G PASS 0/1 14 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 1.00 0.01 None None None None None None None

KIAA0922

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 4 . 154548807 12611.47 G GA PASS 0/1 17 FRAME_SHIFT HIGH None None None None None None None

KIT

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 4 . 55595542 408.8 GT... G,GTA PASS 1/2 8 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 55595563 206.09 T C,TAC PASS 0/1 7 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 55599251 89939.4 T C PASS 1/1 50 SYNONYMOUS_CODING LOW SILENT None None None None None None None

KLB

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 4 . 39448609 71590.22 C A PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31 0.03 -1.15 None None None None None None None

LAP3

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 4 . 17583391 120742.0 G C PASS 1/1 25 SYNONYMOUS_CODING LOW None None None None None None None

LEF1

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 4 . 109010301 28040.23 C T PASS 1/1 75 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 109010299 28039.22 AC A PASS 1/1 75 FRAME_SHIFT HIGH None None None None None None None

LRPAP1

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 4 . 3514721 13926.61 T C PASS 0/1 31 SYNONYMOUS_CODING LOW None None None None None None None

METTL14

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 4 . 119626919 6177.33 A AA... PASS 1/1 8 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None

MFSD10

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 4 . 2934914 226.9 T G PASS 0/1 14 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 rs144128901
dbSNP
2932581 127773.09 G A PASS 0/1 152 None None None 0.00020 0.00020 0.00008 0.17 0.00 None None None None None None None

MRFAP1

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 4 . 6642664 1908.5 G A PASS 1/1 45 SYNONYMOUS_CODING LOW SILENT None None None None None None None

NOP14

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 4 . 2950077 229341.69 A G PASS 0/1 134 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80 None None None None None None None

PDGFRA

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 4 . 55124971 2013.77 T C PASS 1/1 8 SYNONYMOUS_CODING LOW None None None None None None None

PGM2

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 4 . 37848691 73126.2 TG T PASS 1/1 21 FRAME_SHIFT HIGH None None None None None None None

PROM1

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 4 . 15985886 13572.65 T TT... PASS 1/1 34 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 15985889 19496.22 T TG... PASS 1/1 34 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None

PRSS12

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 4 . 119273563 46100.47 G GT... PASS 1/1 108 FRAME_SHIFT HIGH None None None None None None None

RNF212

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 4 . 1093574 1069.48 C T PASS 0/1 79 None None None 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 1093541 4334.06 C T PASS 1/1 62 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 1093539 4256.39 G GC... PASS 1/1 67 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 1073461 10680.77 T C PASS 0/1 5 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 1093605 1002.3 G T PASS 0/1 83 None None None 0.06 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 1093550 3654.42 C T PASS 1/1 71 None None None 0.00 None None None None None None None

RP11-1396O13.13

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 4 . 9386313 4444.85 G A PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.14 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 9388934 227768.41 A G PASS 1/1 114 SYNONYMOUS_CODING LOW None None None None None None None

RPL9

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 4 . 39456250 18216.06 T TG PASS 1/1 26 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 39458104 22610.01 T C PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.01 None None None None None None None

SEPT11

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 4 . 77949786 75658.84 T A PASS 1/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

SH3BP2

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 4 . 2826903 2179.28 G T PASS 1/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.63 None None None None None None None

SH3TC1

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 4 . 8228729 3656.45 T G PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23 0.15 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 rs139044334
dbSNP
8235208 1126.61 C T PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00008 0.01 0.86 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 8226905 18554.03 A C PASS 1/1 24 SYNONYMOUS_CODING LOW None None None None None None None

SLC10A4

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 4 . 48490705 418.49 C T PASS 0/1 23 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 48490752 2875.45 A T PASS 0/1 22 SYNONYMOUS_CODING LOW SILENT -1.26 None None None None None None None

SLC34A2

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 4 . 25673291 118524.4 A G PASS 1/1 164 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 25673283 115148.4 TCACA T PASS 1/1 156 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 25673289 120587.43 G GA... PASS 1/1 157 FRAME_SHIFT HIGH None None None None None None None

SLIT2

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 4 . 20598173 41879.86 A G PASS 0/1 12 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 20598160 44757.99 CAT C,TAT PASS 0/1 9 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 20598135 24306.65 C T PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 20619166 355.17 GA G,GAA PASS 0/1 23 FRAME_SHIFT HIGH None None None None None None None

SMR3B

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 4 . 71255446 27942.92 A G PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.00 None None None None None None None

SOWAHB

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 4 . 77818952 26.76 G A PASS 0/1 6 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 77818978 915.03 G C PASS 1/1 9 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 77818912 574.75 T C PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.51 None None None None None None None

STIM2

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 4 . 27019605 17.07 T A PASS 0/1 9 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.14 1.00 None None None None None None None

STOX2

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 4 . 184938351 2418.12 T G PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

TACC3

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 4 . 1737525 2916.28 T C PASS 0/1 16 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 1730503 439.8 T C PASS 0/1 46 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 1737469 3916.81 C T PASS 0/1 23 SYNONYMOUS_CODING LOW SILENT None None None None None None None

TLR10

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 4 . 38776254 10288.88 C T PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.97 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 38774870 108851.49 T G PASS 1/1 69 SYNONYMOUS_CODING LOW 2.46 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 38776586 597.96 T C PASS 1/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 38775104 10298.32 C A PASS 1/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.06 2.05 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 38775438 20173.88 C T PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 38775615 57525.57 T G PASS 1/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 38775899 6348.21 T A PASS 1/1 132 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 38775896 6218.77 A C PASS 1/1 125 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 38775552 64920.57 A T PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 38775762 3966.15 G A PASS 1/1 76 SYNONYMOUS_CODING LOW None None None None None None None

TLR6

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 4 . 38828729 125838.76 A G PASS 1/1 76 SYNONYMOUS_CODING LOW -1.31 None None None None None None None

TMEM129

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 4 . 1719097 1937.77 A G PASS 1/1 45 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 1719030 1714.82 A G PASS 1/1 10 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 1719275 297.7 C T PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24 0.05 None None None None None None None

TMPRSS11F

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 4 . 68930522 23994.35 G C PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None