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+ Genes 318

Genes:
AARD, ABRA, AC023632.1, ADAM18, ADAM2, ADAM28, ADAM32, ADAM7, ADAMDEC1, ADCK5, ADCY8, ADHFE1, ADRA1A, AF131215.5, AGO2, ANGPT2, ANK1, ANKRD46, ANXA13, ARC, ARHGAP39, ARHGEF10, ASAH1, ASAP1, ASH2L, BAALC, BAI1, BIN3, BLK, BMP1, C8orf4, C8orf48, C8orf49, C8orf59, C8orf74, C8orf82, C8orf86, C8orf87, CA2, CA3, CA8, CCAR2, CDCA2, CDH17, CHRNA2, CHRNB3, CLDN23, CNBD1, CNGB3, CNOT7, COL14A1, COL22A1, COMMD5, COX6C, CPA6, CPSF1, CRH, CSGALNACT1, CSMD1, CSMD3, CTHRC1, CTSB, CYC1, CYHR1, CYP11B1, CYP11B2, DCAF13, DEFA4, DEFB136, DENND3, DEPTOR, DKK4, DLC1, DLGAP2, DOCK5, DOK2, DPYSL2, DSCC1, DUSP4, E2F5, EBF2, EEF1D, EFR3A, ENPP2, EPHX2, EPPK1, ERI1, ERICH1, ESRP1, EXT1, FAM160B2, FAM167A, FAM83A, FAM83H, FAM91A1, FAM92A1, FBXO16, FBXO25, FBXO43, FDFT1, FER1L6, FGF20, FGL1, FUT10, FZD6, GDAP1, GDF6, GGH, GLI4, GML, GPIHBP1, GPR124, GPR20, GPT, GRINA, GSDMC, GSDMD, HGSNAT, HHLA1, HNF4G, HR, HTRA4, IDO2, INTS10, INTS8, KAT6A, KCNB2, KCNK9, KCNU1, KIAA1429, KIAA1456, KIAA1875, KIF13B, KIFC2, KLF10, KLHL38, LAPTM4B, LOXL2, LPL, LRRC14, LRRC24, LRRC69, LY6H, LY6K, LY96, LYNX1, LZTS1, MAF1, MAFA, MAK16, MAL2, MAPK15, MATN2, MBOAT4, MCM4, MCMDC2, MCPH1, MFHAS1, MICU3, MOS, MROH1, MROH5, MROH6, MRPS28, MSR1, MSRA, MTBP, MTDH, MTMR7, MTMR9, MTSS1, MTUS1, MYOM2, NAPRT1, NAT2, NCALD, NDUFB9, NEFM, NKAIN3, NKX3-1, NPBWR1, NRBP2, NRG1, NSMAF, NUDT18, NUGGC, OC90, ODF1, OPLAH, OPRK1, OTUD6B, OXR1, PAG1, PARP10, PCM1, PCMTD1, PDGFRL, PDLIM2, PEBP4, PEX2, PHF20L1, PHYHIP, PINX1, PKHD1L1, PLAG1, PLAT, PLEC, PLEKHA2, POLR3D, POP1, PPP2R2A, PRDM14, PREX2, PRKDC, PRSS55, PSCA, PSD3, PSKH2, PTK2, PTK2B, PXDNL, R3HCC1, RAB11FIP1, RAD54B, RECQL4, RHOBTB2, RIMS2, RNF122, RNF139, RP1, RP11-10J21.3, RP11-297N6.4, RP11-382J12.1, RP11-422N16.3, RP11-521M14.2, RP11-758M4.1, RP1L1, RPS20, RRM2B, RSPO2, SAMD12, SBSPON, SCARA5, SCRIB, SCRT1, SDC2, SFTPC, SGK223, SH2D4A, SHARPIN, SLA, SLC10A5, SLC18A1, SLC20A2, SLC25A37, SLC30A8, SLC35G5, SLC39A4, SLC45A4, SLC7A2, SLCO5A1, SNTG1, SNX31, SORBS3, SOX7, SPAG1, SPAG11A, SPAG11B, ST3GAL1, STAR, STAU2, TAF2, TBC1D31, TEX15, TG, TGS1, THEM6, TIGD5, TMEM249, TMEM66, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11B, TNKS, TONSL, TOP1MT, TP53INP1, TRAPPC9, TRMT12, TRPA1, TRPS1, TSPYL5, TTI2, UBR5, UTP23, VPS13B, WISP1, WRN, XKR9, XPO7, ZC2HC1A, ZC3H3, ZFAT, ZFHX4, ZFP41, ZHX2, ZMAT4, ZNF16, ZNF250, ZNF517, ZNF596, ZNF623, ZNF696, ZNF7, ZNF704, ZNF707,

+ Genes associated with diseases 74

Genes at Omim

ANK1, ARHGEF10, ASAH1, BLK, BMP1, CA2, CA8, CHRNA2, CNGB3, CPA6, CTHRC1, CTSB, CYC1, CYP11B1, CYP11B2, DLC1, EPHX2, ESRP1, EXT1, FAM83H, FDFT1, FGF20, FZD6, GDAP1, GDF6, GPIHBP1, HGSNAT, HR, KAT6A, KCNK9, LPL, LZTS1, MAFA, MCM4, MCPH1, MFHAS1, MSR1, NAT2, NDUFB9, NRG1, OPLAH, OTUD6B, PDGFRL, PEX2, PLAG1, PLAT, POP1, PRKDC, RAD54B, RECQL4, RHOBTB2, RNF139, RP1, RP1L1, RRM2B, RSPO2, SAMD12, SFTPC, SLC20A2, SLC30A8, SLC39A4, SPAG1, STAR, TAF2, TEX15, TG, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TRPS1, TTI2, VPS13B, ZFHX4,
ANK1 Spherocytosis, type 1, 182900 (3)
ARHGEF10 ?Slowed nerve conduction velocity, AD, 608236 (3)
ASAH1 Farber lipogranulomatosis, 228000 (3)
Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
BLK Maturity-onset diabetes of the young, type 11, 613375 (3)
BMP1 Osteogenesis imperfecta, type XIII, 614856 (3)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CA8 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3)
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
CNGB3 Achromatopsia 3, 262300 (3)
Macular degeneration, juvenile, 248200 (3)
CPA6 Febrile seizures, familial, 11, 614418 (3)
Epilepsy, familial temporal lobe, 5, 614417 (3)
CTHRC1 Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
CTSB Keratolytic winter erythema, 148370 (4)
CYC1 Mitochondrial complex III deficiency, nuclear type 6, 615453 (3)
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)
Aldosteronism, glucocorticoid-remediable, 103900 (3)
CYP11B2 Aldosterone to renin ratio raised (3)
{Low renin hypertension, susceptibility to} (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
DLC1 Colorectal cancer, somatic, 114500 (3)
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
ESRP1 ?Deafness, autosomal recessive 109, 618013 (3)
EXT1 Chondrosarcoma, 215300 (3)
Exostoses, multiple, type 1, 133700 (3)
FAM83H Amelogenesis imperfecta, type IIIA, 130900 (3)
FDFT1 Squalene synthase deficiency, 618156 (3)
FGF20 ?Renal hypodysplasia/aplasia 2, 615721 (3)
FZD6 Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (3)
GDAP1 Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3)
Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
Charcot-Marie-Tooth disease, type 4A, 214400 (3)
GDF6 Klippel-Feil syndrome 1, autosomal dominant, 118100 (3)
Leber congenital amaurosis 17, 615360 (3)
Microphthalmia, isolated 4, 613094 (3)
Microphthalmia with coloboma 6, digenic, 613703 (3)
Multiple synostoses syndrome 4, 617898 (3)
GPIHBP1 Hyperlipoproteinemia, type 1D, 615947 (3)
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Retinitis pigmentosa 73, 616544 (3)
HR Alopecia universalis, 203655 (3)
Atrichia with papular lesions, 209500 (3)
Hypotrichosis 4, 146550 (3)
KAT6A Mental retardation, autosomal dominant 32, 616268 (3)
KCNK9 Birk-Barel mental retardation dysmorphism syndrome, 612292 (3)
LPL Combined hyperlipidemia, familial, 144250 (3)
Lipoprotein lipase deficiency, 238600 (3)
[High density lipoprotein cholesterol level QTL 11] (3)
LZTS1 Esophageal squamous cell carcinoma, somatic, 133239 (3)
MAFA Insulinomatosis and diabetes mellitus, 147630 (3)
MCM4 Immunodeficiency 54, 609981 (3)
MCPH1 Microcephaly 1, primary, autosomal recessive, 251200 (3)
MFHAS1 Malignant fibrous histiocytoma (2)
MSR1 Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
NAT2 [Acetylation, slow], 243400 (3)
NDUFB9 ?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)
NRG1 {?Schizophrenia, susceptibility to}, 603013 (1)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
OTUD6B Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3)
PDGFRL Hepatocellular cancer, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
PEX2 Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3)
Peroxisome biogenesis disorder 5B, 614867 (3)
PLAG1 Adenomas, salivary gland pleomorphic, somatic, 181030 (3)
PLAT Hyperfibrinolysis, familial, due to increased release of PLAT, 612348 (1)
Thrombophilia, familial, due to decreased release of PLAT, 612348 (1)
POP1 Anauxetic dysplasia 2, 617396 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RAD54B Colon cancer, somatic, 114500 (3)
Lymphoma, non-Hodgkin, somatic, 605027 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RHOBTB2 Epileptic encephalopathy, early infantile, 64, 618004 (3)
RNF139 Renal cell carcinoma, 144700 (3)
RP1 Retinitis pigmentosa 1, 180100 (3)
RP1L1 Occult macular dystrophy, 613587 (3)
RRM2B Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3)
RSPO2 ?Humerofemoral hypoplasia with radiotibial ray deficiency, 618022 (3)
Tetraamelia syndrome 2, 618021 (3)
SAMD12 Epilepsy, familial adult myoclonic, 1, 601068 (3)
SFTPC Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)
SLC20A2 Basal ganglia calcification, idiopathic, 1, 213600 (3)
SLC30A8 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
SLC39A4 Acrodermatitis enteropathica, 201100 (3)
SPAG1 Ciliary dyskinesia, primary, 28, 615505 (3)
STAR Lipoid adrenal hyperplasia, 201710 (3)
TAF2 Mental retardation, autosomal recessive 40, 615599 (3)
TEX15 Spermatogenic failure 25, 617960 (3)
TG Thyroid dyshormonogenesis 3, 274700 (3)
{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
TNFRSF10B Squamous cell carcinoma, head and neck, 275355 (3)
TNFRSF11B Paget disease of bone 5, juvenile-onset, 239000 (3)
TRAPPC9 Mental retardation, autosomal recessive 13, 613192 (3)
TRPA1 ?Episodic pain syndrome, familial, 1, 615040 (3)
TRPS1 Trichorhinophalangeal syndrome, type I, 190350 (3)
Trichorhinophalangeal syndrome, type III, 190351 (3)
TTI2 Mental retardation, autosomal recessive 39, 615541 (3)
VPS13B Cohen syndrome, 216550 (3)
ZFHX4 ?Ptosis, congenital, 178300 (2)

Genes at Clinical Genomics Database

ANK1, ARHGEF10, ASAH1, BLK, BMP1, CA2, CA8, CHRNA2, CNGB3, CPA6, CTHRC1, CYC1, CYP11B1, CYP11B2, EXT1, FAM83H, FGF20, FZD6, GDAP1, GDF6, GPIHBP1, HGSNAT, HR, KAT6A, KCNK9, LPL, MCM4, MCPH1, MSR1, NAT2, OPLAH, PEX2, PLEC, PRKDC, RECQL4, RNF139, RP1, RP1L1, RRM2B, SFTPC, SLC20A2, SLC39A4, STAR, TAF2, TG, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TRPS1, TTI2, VPS13B, WRN,
ANK1 Spherocytosis, hereditary 1
ARHGEF10 Slowed nerve conduction velocity, autosomal dominant (Hereditary motor and sensory neuropathy)
ASAH1 Farber lipogranulomatosis
Spinal muscular atrophy with progressive myoclonic epilepsy
BLK Maturity-onset diabetes of the young, type 11
BMP1 Osteogenesis imperfecta, type XIII
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CA8 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4
CNGB3 Achromatopsia 3
Macular degeneration, juvenile
CPA6 Febrile seizures, familial, 11
Epilepsy, familial temporal lobe, 5
CTHRC1 Barrett esophagus/Esophageal adenocarcinoma
CYC1 Mitochondrial complex III deficiency, nuclear type
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Glucocorticoid-remediable aldosteronism
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
EXT1 Exostoses, multiple, type 1
FAM83H Amelogenesis imperfecta, type 3
FGF20 Renal hypodysplasia/aplasia 2
FZD6 Nail disorder, nonsyndromic noncongenital 10
GDAP1 Charcot-Marie-Tooth disease, recessive intermediate, A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
Charcot-Marie-Tooth disease, axonal, type 2K
Charcot-Marie-Tooth disease, type 4A
GDF6 Microphthalmia, isolated 4
Microphthalmia, isolated, with coloboma 6
Coloboma, ocular
Klippel-Feil syndrome 1, autosomal dominant
Leber congenital amaurosis 17
GPIHBP1 Hyperlipoproteinemia, type ID
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C)
Retinitis pigmentosa 73
HR Hypotrichosis 4
Atrichia with papular lesions
Alopecia universalis congenita
KAT6A Mental retardation, autosomal dominant 32
KCNK9 Birk-Barel mental retardation dysmorphism syndrome
LPL Lipoprotein lipase deficiency
Combined hyperlipidemia, familial
Hyperlipoproteinemia, type I
MCM4 Natural killer cell and glucocorticoid deficiency with DNA repair defect
MCPH1 Microcephaly, primary autosomal recessive, 1
MSR1 Barrett esophagus/esophageal adenocarcinoma
Prostate cancer
NAT2 Acetylation, NAT2-related
OPLAH 5-oxoprolinase deficiency
PEX2 Peroxisome biogenesis disorder 5A
Peroxisome biogenesis disorder 5B
PLEC Muscular dystrophy, limb-girdle, type 2Q
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
RNF139 Renal cell carcinoma, clear cell
RP1 Retinitis pigmentosa 1, autosomal dominant
Retinitis pigmentosa 1, autosomal recessive
RP1L1 Occult macular dystrophy
Retinitis pigmentosa, autosomal recessive
RRM2B Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5
Mitochondrial DNA depletion syndrome 8A
Mitochondrial DNA depletion syndrome 8B
SFTPC Surfactant metabolism dysfunction, pulmonary, 2
SLC20A2 Basal ganglia calcification, idiopathic, 1
SLC39A4 Acrodermatitis enteropathica
STAR Lipoid adrenal hyperplasia
TAF2 Mental retardation, autosomal recessive 40
TG Thyroid dyshormonogenesis 3
TNFRSF10B Squamous cell carcinoma, head and neck
TNFRSF11B Paget disease of bone 5, juvenile
TRAPPC9 Mental retardation, autosomal recessive 13
TRPA1 Episodic pain syndrome, familial
TRPS1 Trichorhinophalangeal syndrome, type I
Trichorhinophalangeal syndrome, type III
TTI2 Mental retardation, autosomal recessive 39
VPS13B Cohen syndrome
WRN Werner syndrome

Genes at HGMD

Summary

Number of Variants: 3045
Number of Genes: 318

Export to: CSV

AARD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs16889283
dbSNP Clinvar 		117950768 61.4373 G C PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.29752 0.29750 0.22139 1.00 0.00 0.08 None None None None None None AARD|0.002413516|89.86%

ABRA
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs36024019
dbSNP Clinvar 		107773675 124.936 T C PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.01857 0.01857 0.02583 0.00 0.36 3.59 None None None None None None ABRA|0.085117815|54.14%

AC023632.1
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs3133651
dbSNP Clinvar 		95559092 2549.2 T C PASS 1/1 268 SYNONYMOUS_CODING LOW None 0.68171 0.68170 None None None None None None KIAA1429|0.455751702|17.88%

ADAM18
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs12708194
dbSNP Clinvar 		39496029 760.765 T C PASS 1/1 79 SYNONYMOUS_CODING LOW None 0.58846 0.58850 0.30568 None None None None None None ADAM18|0.01116597|79.89%

ADAM2
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs147069631
dbSNP Clinvar 		39606935 427.163 G A PASS 0/1 182 NON_SYNONYMOUS_CODING MODERATE None 0.00240 0.00240 0.00062 0.01 0.01 2.18 0.05 0.62725 D None None None None ADAM2|0.001389764|93.41%

ADAM28
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs7009516
dbSNP Clinvar 		24208847 199.466 G A PASS 0/1 109 None None None 0.56370 0.56370 0.46356 None None None None None None ADAM28|0.028862647|69.97%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs6996616
dbSNP Clinvar 		24171051 377.682 C T PASS 0/1 144 SYNONYMOUS_CODING LOW None 0.18610 0.18610 0.15908 None None None None None None ADAM28|0.028862647|69.97%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs7814768
dbSNP Clinvar 		24211331 1000.76 G A PASS 1/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.96705 0.96710 0.02169 1.00 0.00 -1.45 None None None None None None ADAM28|0.028862647|69.97%

ADAM32
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs4517088
dbSNP Clinvar 		38964647 152.869 G A PASS 0/1 43 None None None 0.44549 0.44550 0.01 0.00 -0.27 None None None None None None ADAM32|0.008880265|81.76%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs59118660
dbSNP Clinvar 		38965271 208.527 C T PASS 0/1 116 START_GAINED LOW None 0.43790 0.43790 0.33230 None None None None None None ADAM32|0.008880265|81.76%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs7845771
dbSNP Clinvar 		39080632 1674.41 C G PASS 1/1 175 NON_SYNONYMOUS_CODING MODERATE None 0.95827 0.95830 0.03848 1.00 0.01 -2.05 None None None None None None ADAM32|0.008880265|81.76%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs4515515
dbSNP Clinvar 		39091526 297.036 T C PASS 0/1 236 SYNONYMOUS_CODING LOW None 0.21586 0.21590 0.21119 None None None None None None ADAM32|0.008880265|81.76%

ADAM7
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs13259668
dbSNP Clinvar 		24356818 190.511 A C PASS 0/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.32628 0.32630 0.33046 0.08 0.00 -1.27 None None None None None None ADAM7|0.013206563|78.36%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs13255694
dbSNP Clinvar 		24339679 315.751 G A PASS 0/1 201 NON_SYNONYMOUS_CODING MODERATE None 0.26138 0.26140 0.26096 0.00 1.00 5.44 None None None None None None ADAM7|0.013206563|78.36%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs3736281
dbSNP Clinvar 		24349417 213.487 T C PASS 0/1 137 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.02816 0.02815 0.00884 0.00 0.34 4.18 None None None None None None ADAM7|0.013206563|78.36%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs13277171
dbSNP Clinvar 		24359068 143.773 G A PASS 0/1 132 SYNONYMOUS_CODING LOW None 0.26478 0.26480 0.26265 None None None None None None ADAM7|0.013206563|78.36%

ADAMDEC1
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2291577
dbSNP Clinvar 		24256470 337.222 C T PASS 0/1 163 SYNONYMOUS_CODING LOW None 0.29293 0.29290 0.34269 None None None None None None ADAMDEC1|0.01425096|77.67%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2291576
dbSNP Clinvar 		24256052 92.8719 C T PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.06589 0.06589 0.02614 None None None None None None ADAMDEC1|0.01425096|77.67%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs3765124
dbSNP Clinvar 		24261526 477.23 A G PASS 0/1 235 NON_SYNONYMOUS_CODING MODERATE None 0.29493 0.29490 0.34453 0.09 0.46 -0.60 None None None None None None ADAMDEC1|0.01425096|77.67%

ADCK5
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs6599528
dbSNP Clinvar 		145603114 1310.31 A C PASS 1/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.63239 0.63240 0.45824 0.80 0.00 None None None None None None ADCK5|0.009712798|81.05%

ADCY8
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs12547243
dbSNP Clinvar 		131921956 1228.66 A G PASS 1/1 127 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.54473 0.54470 0.42642 None None None None None None ADCY8|0.569570608|13.01%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs56260939
dbSNP Clinvar 		131796001 308.346 G A PASS 0/1 178 SYNONYMOUS_CODING LOW None 0.00699 0.00699 0.01876 None None None None None None ADCY8|0.569570608|13.01%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs12545028
dbSNP Clinvar 		131922027 249.988 T G PASS 0/1 117 SYNONYMOUS_CODING LOW None 0.10483 0.10480 0.15393 None None None None None None ADCY8|0.569570608|13.01%

ADHFE1
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs1060242
dbSNP Clinvar 		67380528 1896.58 T C PASS 1/1 197 NON_SYNONYMOUS_CODING MODERATE None 0.57947 0.57950 0.44349 1.00 0.00 0.82 None None None None None None ADHFE1|0.859920053|4.46%,C8orf46|0.07752265|55.76%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2555588
dbSNP Clinvar 		67369355 615.924 G C PASS 1/1 65 SYNONYMOUS_CODING LOW None 0.13618 0.13620 0.19722 None None None None None None ADHFE1|0.859920053|4.46%

ADRA1A
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs1048101
dbSNP Clinvar 		26628028 3825.34 A G PASS 1/1 586 NON_SYNONYMOUS_CODING MODERATE None 0.64816 0.64820 0.45494 0.40 0.00 1.37 None None None None None None ADRA1A|0.171893562|40.07%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs6989854
dbSNP Clinvar 		26636925 1024.22 T C PASS 1/1 111 None None None 0.64377 0.64380 None None None None None None ADRA1A|0.171893562|40.07%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs61759694
dbSNP Clinvar 		26606255 101.957 C A PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.06030 0.06030 0.00 0.02 2.49 None None None None None None ADRA1A|0.171893562|40.07%

AF131215.5
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs73547414
dbSNP Clinvar 		10986486 78.8881 A G PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.04014 0.04014 0.30 None None None None None None XKR6|0.452427379|18.08%

AGO2
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2292778
dbSNP Clinvar 		141568622 1743.26 G A PASS 1/1 185 SYNONYMOUS_CODING LOW None 0.65555 0.65560 0.37175 None None None None None None AGO2|0.736134544|7.47%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2271738
dbSNP Clinvar 		141566311 946.321 C T PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.44928 0.44930 0.34753 None None None None None None AGO2|0.736134544|7.47%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2292781
dbSNP Clinvar 		141559358 1220.64 G A PASS 1/1 134 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.47244 0.47240 0.39734 None None None None None None AGO2|0.736134544|7.47%

ANGPT2
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs3020221
dbSNP Clinvar 		6378763 823.656 C T PASS 1/1 82 SYNONYMOUS_CODING LOW None 0.30970 0.30970 0.36529 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs6559167
dbSNP Clinvar 		6389889 1794.72 C A PASS 1/1 187 SYNONYMOUS_CODING LOW None 0.28974 0.28970 0.42734 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs1961222
dbSNP Clinvar 		6377433 1839.33 C T PASS 1/1 195 SYNONYMOUS_CODING LOW None 0.14976 0.14980 0.24381 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%

ANK1
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs750625
dbSNP Clinvar 		41525914 791.531 C T PASS 0/1 403 SYNONYMOUS_CODING LOW None 0.19469 0.19470 0.23120 None None None None None None ANK1|0.956309863|2.07%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs1137177
dbSNP Clinvar 		41563685 434.847 G A PASS 0/1 254 SYNONYMOUS_CODING LOW None 0.18091 0.18090 0.19637 None None None None None None ANK1|0.956309863|2.07%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2304871
dbSNP Clinvar 		41585438 367.759 G A PASS 0/1 155 SYNONYMOUS_CODING LOW None 0.22844 0.22840 0.24965 None None None None None None ANK1|0.956309863|2.07%

ANKRD46
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs11555216
dbSNP Clinvar 		101540153 369.934 A G PASS 0/1 218 SYNONYMOUS_CODING LOW None 0.02037 0.02037 0.04859 None None None None None None ANKRD46|0.312341362|26.67%

ANXA13
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2294015
dbSNP Clinvar 		124696867 481.191 C T PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.69609 0.69610 0.31785 1.00 0.00 0.70 None None None None None None ANXA13|0.222416197|34.14%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2294013
dbSNP Clinvar 		124710729 524.037 C T PASS 0/1 251 NON_SYNONYMOUS_CODING MODERATE None 0.23403 0.23400 0.29479 0.12 0.02 2.82 None None None None None None ANXA13|0.222416197|34.14%

ARC
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs28686812
dbSNP Clinvar 		143694775 1096.37 G C PASS 1/1 113 SYNONYMOUS_CODING LOW None 0.50060 0.50060 0.49477 None None None None None None ARC|0.130590354|45.8%

ARHGAP39
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs873884
dbSNP Clinvar 		145756170 131.366 G A PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.38698 0.38700 0.49083 None None None None None None ARHGAP39|0.083072421|54.56%

ARHGEF10
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs4875950
dbSNP Clinvar 		1806229 480.313 A C PASS 0/1 251 SYNONYMOUS_CODING LOW None 0.30571 0.30570 0.29756 None None None None None None ARHGEF10|0.010635325|80.42%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs3735876
dbSNP Clinvar 		1905132 237.878 G A PASS 0/1 147 SYNONYMOUS_CODING LOW None 0.36801 0.36800 0.34561 None None None None None None ARHGEF10|0.010635325|80.42%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs12681485
dbSNP Clinvar 		1846688 604.487 C T PASS 0/1 252 SYNONYMOUS_CODING LOW None 0.08407 0.08407 0.03545 None None None None None None ARHGEF10|0.010635325|80.42%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs9657362
dbSNP Clinvar 		1833801 283.274 G C PASS 0/1 151 NON_SYNONYMOUS_CODING MODERATE None 0.16833 0.16830 0.10810 0.18 0.54 0.62 None None None None None None ARHGEF10|0.010635325|80.42%

ASAH1
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs10103355
dbSNP Clinvar 		17918934 3268.59 A G PASS 1/1 350 NON_SYNONYMOUS_CODING MODERATE None 0.85024 0.85020 0.13340 0.92 0.00 1.64 None None None None None None ASAH1|0.03988949|65.81%

ASAP1
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs966185
dbSNP Clinvar 		131124559 593.812 T C PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.47444 0.47440 0.39866 0.86 0.00 -0.08 None None None None None None ASAP1|0.438507149|18.75%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs13265869
dbSNP Clinvar 		131353139 2865.56 T C PASS 1/1 306 None None None 0.56350 0.56350 None None None None None None ASAP1|0.438507149|18.75%

ASH2L
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2843740
dbSNP Clinvar 		37985897 977.028 A G PASS 1/1 103 SYNONYMOUS_CODING LOW None 0.84804 0.84800 0.08396 None None None None None None ASH2L|0.428566452|19.21%

BAALC
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs62528474
dbSNP Clinvar 		104210367 170.996 A G PASS 0/1 91 None None None 0.02835 0.02835 None None None None None None BAALC|0.0245078|72.04%

BAI1
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs34364916
dbSNP Clinvar 		143623459 1409.72 G T PASS 1/1 147 SYNONYMOUS_CODING LOW None 0.14816 0.14820 0.11141 None None None None None None ADGRB1|0.079978463|55.17%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs7460600
dbSNP Clinvar 		143603418 278.588 G C PASS 1/1 31 SYNONYMOUS_CODING LOW None 0.90375 0.90380 0.09007 None None None None None None ADGRB1|0.079978463|55.17%

BIN3
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs1871900
dbSNP Clinvar 		22481449 95.1447 A G PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.49720 0.49720 0.45654 None None None None None None BIN3|0.312765796|26.64%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs11550509
dbSNP Clinvar 		22526559 293.57 G A PASS 0/1 125 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09884 0.09884 0.18878 None None None None None None BIN3|0.312765796|26.64%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs900268
dbSNP Clinvar 		22482851 261.002 A C PASS 0/1 91 None None None 0.99121 0.99120 0.00 0.89 -0.73 None None None None None None BIN3|0.312765796|26.64%

BLK
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2306234
dbSNP Clinvar 		11414237 2450.69 T C PASS 1/1 260 SYNONYMOUS_CODING LOW None 0.82768 0.82770 0.18753 None None None None None None BLK|0.095762795|51.98%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs3816668
dbSNP Clinvar 		11406593 2215.06 T C PASS 1/1 238 SYNONYMOUS_CODING LOW None 0.41693 0.41690 0.49031 None None None None None None BLK|0.095762795|51.98%

BMP1
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2229777
dbSNP Clinvar 		22054197 318.708 T C PASS 0/1 135 SYNONYMOUS_CODING LOW None 0.12999 0.13000 0.10772 None None None None None None BMP1|0.631090407|10.73%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs781274244
dbSNP Clinvar 		22053785 79.4886 A G PASS 0/1 55 None None None None None None None None None BMP1|0.631090407|10.73%

C8orf4
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs6474226
dbSNP Clinvar 		40011079 435.336 G A PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.98662 0.98660 0.01107 0.53 0.00 -1.04 None None None None None None C8orf4|0.263856916|30.39%

C8orf48
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs13273355
dbSNP Clinvar 		13424583 1587.49 C T PASS 1/1 163 NON_SYNONYMOUS_CODING MODERATE None 0.81210 0.81210 0.20894 1.00 0.00 -0.49 None None None None None None C8orf48|0.002033946|90.89%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs11203497
dbSNP Clinvar 		13425353 1530.84 T A PASS 1/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.98502 0.98500 0.01533 1.00 0.00 -0.94 None None None None None None C8orf48|0.002033946|90.89%

C8orf49
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs809203
dbSNP Clinvar 		11619504 188.89 T A PASS 0/1 118 STOP_GAINED HIGH None 0.25140 0.25140 None None None None None None C8orf49|0.001687308|91.93%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs811966
dbSNP Clinvar 		11619334 279.665 C T PASS 0/1 147 SYNONYMOUS_CODING LOW None 0.69828 0.69830 None None None None None None C8orf49|0.001687308|91.93%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2740431
dbSNP Clinvar 		11619261 1443.42 T A PASS 1/1 154 SYNONYMOUS_CODING LOW None 0.94329 0.94330 None None None None None None C8orf49|0.001687308|91.93%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs804285
dbSNP Clinvar 		11618998 38.3456 G C PASS 1/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.97344 0.97340 1.00 0.00 None None None None None None C8orf49|0.001687308|91.93%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs809204
dbSNP Clinvar 		11619163 136.566 A G PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.25160 0.25160 0.00 0.35 None None None None None None C8orf49|0.001687308|91.93%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs36018280
dbSNP Clinvar 		11619397 366.258 G A PASS 0/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.11741 0.11740 0.60 0.00 None None None None None None C8orf49|0.001687308|91.93%

C8orf59
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs112611553
dbSNP Clinvar 		86126827 519.216 C CA... PASS 1/1 132 CODON_INSERTION MODERATE None 0.99720 0.99720 0.00399 None None None None None None E2F5|0.388960651|21.48%,C8orf59|0.106330723|49.9%

C8orf74
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs11250058
dbSNP Clinvar 		10530218 792.092 C T PASS 1/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.99241 0.99240 0.00008 0.33 0.00 -0.48 None None None None None None RP1L1|0.000840698|96.44%,C8orf74|0.022006749|73.16%

C8orf82
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs11557085
dbSNP Clinvar 		145752900 31.6248 C T PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.39417 0.39420 None None None None None None C8orf82|0.009303358|81.44%

C8orf86
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs1378332
dbSNP Clinvar 		38385914 303.821 C T PASS 0/1 186 NON_SYNONYMOUS_CODING MODERATE None 0.12660 0.12660 0.10364 0.01 0.00 2.13 None None None None None None C8orf86|0.000942492|95.83%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs150721903
dbSNP Clinvar 		38369982 253.867 C G PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.00859 0.00859 0.01307 0.00 0.64 1.03 None None None None None None C8orf86|0.000942492|95.83%

C8orf87
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs13267247
dbSNP Clinvar 		94146656 49.4279 G T PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.23163 0.23160 0.00 0.77 None None None None None None C8orf87|0.001906946|91.22%

CA2
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs703
dbSNP Clinvar 		86389403 1325.56 T C PASS 1/1 138 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.57768 0.57770 0.35691 None None None None None None CA2|0.889108016|3.7%

CA3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs20571
dbSNP Clinvar 		86351997 568.926 G A PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.43950 0.43950 0.48578 1.00 0.00 0.82 None None None None None None CA3|0.309141355|26.9%

CA8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs7464181
dbSNP Clinvar 		61178574 471.529 T C PASS 0/1 187 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50100 0.50100 0.47178 None None None None None None CA8|0.652125387|10.02%

CCAR2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs7843828
dbSNP Clinvar 		22463623 175.698 C T PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.30351 0.30350 0.31170 None None None None None None CCAR2|0.363674682|23.18%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs3736147
dbSNP Clinvar 		22471824 363.892 G A PASS 0/1 168 SYNONYMOUS_CODING LOW None 0.26937 0.26940 0.26273 None None None None None None CCAR2|0.363674682|23.18%

CDCA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs4872318
dbSNP Clinvar 		25364331 1738.27 G A PASS 1/1 182 NON_SYNONYMOUS_CODING MODERATE None 0.22644 0.22640 0.25750 0.01 0.34 2.81 None None None None None None CDCA2|0.009449627|81.34%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs10108752
dbSNP Clinvar 		25323777 966.183 T C PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.95547 0.95550 0.04598 None None None None None None CDCA2|0.009449627|81.34%

CDH17
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs3214050
dbSNP Clinvar 		95186382 138.787 G A PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.34585 0.34580 0.39013 None None None None None None CDH17|0.034427264|67.65%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs35792427
dbSNP Clinvar 		95161102 362.463 G A PASS 0/1 198 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12680 0.12680 0.09995 None None None None None None CDH17|0.034427264|67.65%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2251734
dbSNP Clinvar 		95158259 1516.99 G A PASS 1/1 144 SYNONYMOUS_CODING LOW None 0.31210 0.31210 0.32731 None None None None None None CDH17|0.034427264|67.65%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs1051624
dbSNP Clinvar 		95143172 88.8271 T G PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.44269 0.44270 0.47363 0.22 0.00 -0.72 None None None None None None CDH17|0.034427264|67.65%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2243518
dbSNP Clinvar 		95188850 1037.05 T C PASS 1/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.80232 0.80230 0.16861 0.52 0.00 1.01 None None None None None None CDH17|0.034427264|67.65%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs1051623
dbSNP Clinvar 		95143186 648.198 C G PASS 1/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.78395 0.78390 0.16639 0.34 0.00 0.01 None None None None None None CDH17|0.034427264|67.65%

CHRNA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs891398
dbSNP Clinvar 		27324822 657.248 T C PASS 0/1 299 NON_SYNONYMOUS_CODING MODERATE None 0.61022 0.61020 0.41988 1.00 0.00 -1.45 None None None None None None CHRNA2|0.020223368|74.06%

CHRNB3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs4953
dbSNP Clinvar 		42587659 96.0097 G C PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.03674 0.03674 0.04208 None None None None None None CHRNB3|0.206277486|35.99%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs4952
dbSNP Clinvar 		42587065 491.18 C T PASS 0/1 208 SYNONYMOUS_CODING LOW None 0.02296 0.02296 0.03152 None None None None None None CHRNB3|0.206277486|35.99%

CLDN23
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2280560
dbSNP Clinvar 		8560602 261.087 C T PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.29553 0.29550 0.19371 0.59 0.04 1.45 None None None None None None CLDN23|0.024207428|72.13%

CNBD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs9694259
dbSNP Clinvar 		88622043 571.297 T G PASS 1/1 60 None None None 0.79713 0.79710 0.00 0.21 None None None None None None CNBD1|0.010944724|80.12%

CNGB3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs6471482
dbSNP Clinvar 		87679303 239.683 A C PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.95747 0.95750 0.12141 1.00 0.00 1.84 None None None None None None CNGB3|0.068013081|57.91%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs4961206
dbSNP Clinvar 		87666251 241.429 T G PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.67971 0.67970 0.35941 0.30 0.01 2.38 None None None None None None CNGB3|0.068013081|57.91%

CNOT7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2959606
dbSNP Clinvar 		17092164 2518.1 G T PASS 1/1 263 None None None 0.96006 0.96010 None None None None None None CNOT7|0.468115018|17.27%

COL14A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2305600
dbSNP Clinvar 		121215991 190.156 T C PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.63838 0.63840 0.43165 None None None None None None COL14A1|0.765229358|6.75%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs2305598
dbSNP Clinvar 		121210069 246.009 T C PASS 0/1 154 SYNONYMOUS_CODING LOW None 0.63439 0.63440 0.42465 None None None None None None COL14A1|0.765229358|6.75%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 8 rs4463470
dbSNP Clinvar 		121383048 232.396 T C PASS 1/1 27 None None None 0.82668 0.82670 0.01 0.00 -0.24 None None None None None None COL14A1|0.765229358|6.75%