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Genes:
ADAM28, ADAM32, ADAM7, ADAMDEC1, ADCK5, ADCY8, ADHFE1, AGO2, ANK1, ANXA13, ARC, ARHGAP39, ARHGEF10, ARMC1, ASAH1, ASAP1, ASH2L, AZIN1, BAI1, BIN3, BLK, C8orf31, C8orf34, C8orf4, C8orf48, C8orf59, C8orf74, CA2, CA3, CDCA2, CDH17, CHD7, CHMP4C, CHRNA2, CLDN23, CLU, CNGB3, CNOT7, COL14A1, COL22A1, COMMD5, COPS5, CPQ, CPSF1, CSGALNACT1, CSMD1, CSMD3, CSPP1, CTHRC1, CTSB, CYC1, CYHR1, CYP11B1, CYP11B2, DCAF13, DEFA4, DEFA5, DEFB104A, DEFB107A, DEFB136, DEFB4A, DEFB4B, DENND3, DEPTOR, DLC1, DOCK5, DOK2, DPYSL2, DSCC1, DUSP4, E2F5, EBF2, EEF1D, EFR3A, EMC2, ENPP2, EPHX2, EPPK1, ERI1, ERICH1, ESRP1, EXT1, EXTL3, EYA1, FAM135B, FAM160B2, FAM167A, FAM83H, FAM86B1, FAM86B2, FAM91A1, FBXO16, FBXO25, FBXO32, FBXO43, FDFT1, FER1L6, FGF20, FGFR1, FGL1, FUT10, FZD3, FZD6, GDAP1, GFRA2, GGH, GLI4, GML, GOT1L1, GPIHBP1, GPR124, GPR20, GRINA, GSDMD, HEY1, HGSNAT, HHLA1, HNF4G, HR, HTRA4, IDO2, INTS8, KAT6A, KCNB2, KCNK9, KCNQ3, KCTD9, KIAA1456, KIF13B, KIFC2, KLHL38, LAPTM4B, LOXL2, LRRC14, LRRC24, LRRC6, LRRC69, LY6D, LY6E, LY6K, LY96, LYNX1, LZTS1, MAF1, MAFA, MAK16, MAL2, MAPK15, MATN2, MBOAT4, MCM4, MCMDC2, MCPH1, MFHAS1, MOS, MROH1, MROH5, MROH6, MSR1, MTDH, MTMR7, MTMR9, MTUS1, MYBL1, MYOM2, NAPRT1, NAT2, NBN, NEFM, NEIL2, NIPAL2, NKAIN3, NKX2-6, NKX6-3, NRBP2, NRG1, NSMAF, NUDCD1, NUDT18, NUGGC, OC90, ODF1, OPLAH, OPRK1, OR4F21, OTUD6B, OXR1, PABPC1, PARP10, PBK, PCM1, PCMTD1, PDGFRL, PDLIM2, PEBP4, PENK, PEX2, PHF20L1, PHYHIP, PINX1, PKHD1L1, PLAG1, PLAT, PLEC, PLEKHA2, PNMA2, POLR3D, POP1, POU5F1B, PRDM14, PREX2, PRKDC, PRR23D1, PRSS55, PSCA, PSD3, PSKH2, PTK2B, PXDNL, PYCRL, R3HCC1, RAB11FIP1, RAD21, RAD54B, RB1CC1, RBM12B, RECQL4, REEP4, RHOBTB2, RIMS2, RMDN1, RNF122, RNF170, RP1, RP11-481A20.11, RP1L1, RPS20, RSPO2, SAMD12, SBSPON, SCARA3, SCARA5, SCRIB, SCRT1, SDC2, SFRP1, SFTPC, SGK223, SGK3, SH2D4A, SHARPIN, SLC10A5, SLC18A1, SLC20A2, SLC25A37, SLC35G5, SLC39A14, SLC39A4, SLC45A4, SLC7A13, SLC7A2, SLCO5A1, SNTG1, SNX31, SORBS3, SOX7, SPAG1, SPAG11A, SPAG11B, ST18, ST3GAL1, STAR, STAU2, TACC1, TAF2, TATDN1, TBC1D31, TDRP, TERF1, TEX15, TG, TGS1, THEM6, TIGD5, TMEM249, TMEM66, TMEM71, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11B, TNKS, TONSL, TOP1MT, TOX, TP53INP1, TRAPPC9, TRIB1, TRMT12, TRPA1, TSNARE1, TSPYL5, TTI2, USP17L2, UTP23, VCPIP1, VPS13B, VPS37A, WISP1, WRN, XKR9, XPO7, ZBTB10, ZC2HC1A, ZC3H3, ZFAT, ZFHX4, ZFP41, ZHX2, ZMAT4, ZNF250, ZNF34, ZNF517, ZNF572, ZNF623, ZNF696, ZNF7, ZNF705D, ZNF705G, ZNF707,

Genes at Omim

ANK1, ARHGEF10, ASAH1, BLK, CA2, CHD7, CHRNA2, CNGB3, CSPP1, CTHRC1, CTSB, CYC1, CYP11B1, CYP11B2, DLC1, EPHX2, ESRP1, EXT1, EXTL3, EYA1, FAM83H, FDFT1, FGF20, FGFR1, FZD6, GDAP1, GPIHBP1, HGSNAT, HR, KAT6A, KCNK9, KCNQ3, LRRC6, LZTS1, MAFA, MCM4, MCPH1, MFHAS1, MSR1, NAT2, NBN, NKX2-6, NRG1, OPLAH, OTUD6B, PDGFRL, PEX2, PLAG1, PLAT, POP1, PRKDC, RAD21, RAD54B, RB1CC1, RECQL4, RHOBTB2, RNF170, RP1, RP1L1, RSPO2, SAMD12, SFTPC, SLC20A2, SLC39A14, SLC39A4, SPAG1, STAR, TAF2, TEX15, TG, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TTI2, VPS13B, VPS37A, 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)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CHD7 CHARGE syndrome, 214800 (3)
Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3)
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
CNGB3 Achromatopsia 3, 262300 (3)
Macular degeneration, juvenile, 248200 (3)
CSPP1 Joubert syndrome 21, 615636 (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)
EXTL3 Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3)
EYA1 Anterior segment anomalies with or without cataract, 602588 (3)
Branchiootic syndrome 1, 602588 (3)
Branchiootorenal syndrome 1, with or without cataracts, 113650 (3)
?Otofaciocervical syndrome, 166780 (3)
FAM83H Amelogenesis imperfecta, type IIIA, 130900 (3)
FDFT1 Squalene synthase deficiency, 618156 (3)
FGF20 ?Renal hypodysplasia/aplasia 2, 615721 (3)
FGFR1 Hartsfield syndrome, 615465 (3)
Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3)
Encephalocraniocutaneous lipomatosis, 613001 (3)
Jackson-Weiss syndrome, 123150 (3)
Osteoglophonic dysplasia, 166250 (3)
Pfeiffer syndrome, 101600 (3)
Trigonocephaly 1, 190440 (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)
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)
KCNQ3 Seizures, benign neonatal, 2, 121201 (3)
LRRC6 Ciliary dyskinesia, primary, 19, 614935 (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)
NBN Aplastic anemia, 609135 (3)
Leukemia, acute lymphoblastic, 613065 (3)
Nijmegen breakage syndrome, 251260 (3)
NKX2-6 Conotruncal heart malformations, 217095 (3)
Persistent truncus arteriosus, 217095 (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)
RAD21 Cornelia de Lange syndrome 4, 614701 (3)
?Mungan syndrome, 611376 (3)
RAD54B Colon cancer, somatic, 114500 (3)
Lymphoma, non-Hodgkin, somatic, 605027 (3)
RB1CC1 Breast cancer, somatic, 114480 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RHOBTB2 Epileptic encephalopathy, early infantile, 64, 618004 (3)
RNF170 Ataxia, sensory, 1, autosomal dominant, 608984 (3)
RP1 Retinitis pigmentosa 1, 180100 (3)
RP1L1 Occult macular dystrophy, 613587 (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)
SLC39A14 Hypermanganesemia with dystonia 2, 617013 (3)
?Hyperostosis cranalis interna, 144755 (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)
TTI2 Mental retardation, autosomal recessive 39, 615541 (3)
VPS13B Cohen syndrome, 216550 (3)
VPS37A Spastic paraplegia 53, autosomal recessive, 614898 (3)
ZFHX4 ?Ptosis, congenital, 178300 (2)

Genes at Clinical Genomics Database

ANK1, ARHGEF10, ASAH1, BLK, CA2, CHD7, CHRNA2, CNGB3, CSPP1, CTHRC1, CYC1, CYP11B1, CYP11B2, EXT1, EYA1, FAM83H, FGF20, FGFR1, FZD6, GDAP1, GPIHBP1, HGSNAT, HR, KAT6A, KCNK9, KCNQ3, LRRC6, MCM4, MCPH1, MSR1, NAT2, NBN, NKX2-6, OPLAH, PEX2, PLEC, PRKDC, RAD21, RB1CC1, RECQL4, RP1, RP1L1, SFTPC, SLC20A2, SLC39A4, STAR, TAF2, TG, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TTI2, VPS13B, VPS37A, 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
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CHD7 CHARGE syndrome
Hypogonadotropic hypogonadism 5 with or without anosmia
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4
CNGB3 Achromatopsia 3
Macular degeneration, juvenile
CSPP1 Jeune Asphyxiating Thoracic Dystrophy
Joubert syndrome 21
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
EYA1 Branchiootic syndrome 1
Branchiootorenal syndrome 1
Otofaciocervical syndrome 1
FAM83H Amelogenesis imperfecta, type 3
FGF20 Renal hypodysplasia/aplasia 2
FGFR1 Hypogonadotropic hypogonadism 2 with or without anosmia
Trigonocephaly 1
Jackson-Weiss syndrome
Pfeiffer syndrome
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
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
KCNQ3 Seizures, benign neonatal, 2
LRRC6 Ciliary dyskinesia, primary 19
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
NBN Breast cancer, susceptibility to
Nijmegen breakage syndrome
NKX2-6 Persistent truncus arteriosus
Conotruncal heart malformations
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
RAD21 Cornelia de Lange syndrome 4
RB1CC1 Schizophrenia
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
RP1 Retinitis pigmentosa 1, autosomal dominant
Retinitis pigmentosa 1, autosomal recessive
RP1L1 Occult macular dystrophy
Retinitis pigmentosa, autosomal recessive
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
TTI2 Mental retardation, autosomal recessive 39
VPS13B Cohen syndrome
VPS37A Spastic paraplegia 53, autosomal recessive
WRN Werner syndrome

Genes at HGMD

Summary

Number of Variants: 7819
Number of Genes: 331

Export to: CSV

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 mmcs-209a 8 rs7814768
dbSNP Clinvar
24211331 1564.91 G A,C PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96705 0.96710 0.02169 1.00 0.00 None None None None None None ADAM28|0.028862647|69.97%
View mmcs-209a 8 rs7009516
dbSNP Clinvar
24208847 1354.92 G A PASS 0/1 43 None None None 0.56370 0.56370 0.46356 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 mmcs-209a 8 rs59118660
dbSNP Clinvar
38965271 1862.92 C T PASS 0/1 39 START_GAINED LOW 0.43790 0.43790 0.33230 None None None None None None ADAM32|0.008880265|81.76%
View mmcs-209a 8 rs4515515
dbSNP Clinvar
39091526 718.92 T C PASS 0/1 27 SYNONYMOUS_CODING LOW SILENT 0.21586 0.21590 0.21119 None None None None None None ADAM32|0.008880265|81.76%
View mmcs-209a 8 rs7845771
dbSNP Clinvar
39080632 3320.9 C G PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.95827 0.95830 0.03848 1.00 0.01 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 mmcs-209a 8 rs13277171
dbSNP Clinvar
24359068 3237.16 G A PASS 1/1 43 SYNONYMOUS_CODING LOW SILENT 0.26478 0.26480 0.26265 None None None None None None ADAM7|0.013206563|78.36%
View mmcs-209a 8 rs13259668
dbSNP Clinvar
24356818 2838.16 A C PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32628 0.32630 0.33046 0.08 0.00 None None None None None None ADAM7|0.013206563|78.36%
View mmcs-209a 8 rs13255694
dbSNP Clinvar
24339679 3316.16 G A PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26138 0.26140 0.26096 0.00 1.00 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 mmcs-209a 8 rs3765124
dbSNP Clinvar
24261526 1294.92 A G PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29493 0.29490 0.34453 0.09 0.46 None None None None None None ADAMDEC1|0.01425096|77.67%
View mmcs-209a 8 rs2291577
dbSNP Clinvar
24256470 1778.92 C T PASS 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.29293 0.29290 0.34269 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 mmcs-209a 8 rs6599528
dbSNP Clinvar
145603114 1110.9 A C PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63239 0.63240 0.45824 0.80 0.00 None None None None None None ADCK5|0.009712798|81.05%
View mmcs-209a 8 . 145617534 1345.86 TG... TG... PASS 0/1 25 None None None None None None None None None ADCK5|0.009712798|81.05%

ADCY8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 rs372258768
dbSNP Clinvar
132052457 3736.16 C T PASS 0/1 135 SYNONYMOUS_CODING LOW SILENT 0.00338 None None None None None None ADCY8|0.569570608|13.01%
View mmcs-209a 8 rs12547243
dbSNP Clinvar
131921956 4126.16 A G PASS 0/1 84 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.54473 0.54470 0.42642 None None None None None None ADCY8|0.569570608|13.01%

ADHFE1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 . 67356939 1353.12 CTTT CTT PASS 0/1 69 FRAME_SHIFT HIGH None None None None None None ADHFE1|0.859920053|4.46%

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 mmcs-209a 8 rs2292778
dbSNP Clinvar
141568622 3158.13 G A PASS 1/1 43 SYNONYMOUS_CODING LOW SILENT 0.65555 0.65560 0.37175 None None None None None None AGO2|0.736134544|7.47%
View mmcs-209a 8 rs2271738
dbSNP Clinvar
141566311 4699.16 C T PASS 1/1 74 SYNONYMOUS_CODING LOW SILENT 0.44928 0.44930 0.34753 None None None None None None AGO2|0.736134544|7.47%
View mmcs-209a 8 rs2292781
dbSNP Clinvar
141559358 3494.16 G A PASS 1/1 47 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.47244 0.47240 0.39734 None None None None None None AGO2|0.736134544|7.47%

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 mmcs-209a 8 rs1137177
dbSNP Clinvar
41563685 3665.9 G A PASS 0/1 87 SYNONYMOUS_CODING LOW SILENT 0.18091 0.18090 0.19637 None None None None None None ANK1|0.956309863|2.07%
View mmcs-209a 8 rs2304880
dbSNP Clinvar
41559609 2745.9 G A PASS 0/1 77 SYNONYMOUS_CODING LOW SILENT 0.18071 0.18070 0.19622 None None None None None None ANK1|0.956309863|2.07%
View mmcs-209a 8 rs504574
dbSNP Clinvar
41553928 10399.9 C G PASS 1/1 106 SYNONYMOUS_CODING LOW SILENT 0.40715 0.40710 0.36285 None None None None None None ANK1|0.956309863|2.07%

ANXA13

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 mmcs-209a 8 rs2294015
dbSNP Clinvar
124696867 3088.13 C T PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69609 0.69610 0.31785 1.00 0.00 None None None None None None ANXA13|0.222416197|34.14%

ARC

Omim - GeneCards - NCBI
Options Individual Chr
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Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 rs2234911
dbSNP Clinvar
143695144 3417.9 G A PASS 0/1 68 SYNONYMOUS_CODING LOW SILENT 0.49181 0.49180 0.47025 None None None None None None ARC|0.130590354|45.8%
View mmcs-209a 8 rs28686812
dbSNP Clinvar
143694775 4224.9 G C PASS 0/1 112 SYNONYMOUS_CODING LOW SILENT 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 rs873884
dbSNP Clinvar
145756170 2819.13 G A PASS 1/1 53 SYNONYMOUS_CODING LOW SILENT 0.38698 0.38700 0.49083 None None None None None None ARHGAP39|0.083072421|54.56%
View mmcs-209a 8 rs61734975
dbSNP Clinvar
145830988 734.16 C T PASS 0/1 52 SYNONYMOUS_CODING LOW SILENT 0.03135 0.03135 0.01938 None None None None None None ARHGAP39|0.083072421|54.56%

ARHGEF10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 rs2294038
dbSNP Clinvar
1857548 8193.16 T C PASS 1/1 162 SYNONYMOUS_CODING LOW SILENT 0.15695 0.15690 0.14609 None None None None None None ARHGEF10|0.010635325|80.42%

ARMC1

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 mmcs-209a 8 rs11559265
dbSNP Clinvar
66525548 2740.16 T C PASS 0/1 99 SYNONYMOUS_CODING LOW SILENT 0.25619 0.25620 0.24912 None None None None None None ARMC1|0.549639557|13.74%

ASAH1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 rs3753115
dbSNP Clinvar
17930772 661.16 C T PASS 0/1 40 None None None 0.41354 0.41350 0.42394 0.33 0.00 None None None None None None ASAH1|0.03988949|65.81%
View mmcs-209a 8 rs1071645
dbSNP Clinvar
17928811 400.16 C T PASS 0/1 19 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.42053 0.42050 0.42427 0.19 0.00 None None None None None None ASAH1|0.03988949|65.81%
View mmcs-209a 8 rs1049874
dbSNP Clinvar
17927327 585.16 T C PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42053 0.42050 0.42163 0.93 0.00 None None None None None None ASAH1|0.03988949|65.81%
View mmcs-209a 8 rs2472205
dbSNP Clinvar
17924739 312.37 A T PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02276 0.02276 0.03437 0.35 0.00 None None None None None None ASAH1|0.03988949|65.81%
View mmcs-209a 8 rs10103355
dbSNP Clinvar
17918934 2352.9 A G,T PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85024 0.85020 0.13340 0.92 0.00 None None None None None None ASAH1|0.03988949|65.81%

ASAP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 rs966185
dbSNP Clinvar
131124559 5297.16 T C PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47444 0.47440 0.39866 0.86 0.00 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 mmcs-209a 8 rs2843740
dbSNP Clinvar
37985897 6066.9 A G PASS 1/1 74 SYNONYMOUS_CODING LOW SILENT 0.84804 0.84800 0.08396 None None None None None None ASH2L|0.428566452|19.21%

AZIN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 rs1062048
dbSNP Clinvar
103851052 1638.16 T C PASS 0/1 77 SYNONYMOUS_CODING LOW SILENT 0.19988 0.19990 0.20421 None None None None None None AZIN1|0.715198945|8.12%

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 mmcs-209a 8 . 143546034 1052.16 C G PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36 0.00 None None None None None None ADGRB1|0.079978463|55.17%
View mmcs-209a 8 rs7460600
dbSNP Clinvar
143603418 4128.13 G C PASS 1/1 68 SYNONYMOUS_CODING LOW SILENT 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 rs11550509
dbSNP Clinvar
22526559 2983.16 G A PASS 0/1 65 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.09884 0.09884 0.18878 None None None None None None BIN3|0.312765796|26.64%

BLK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 rs3816668
dbSNP Clinvar
11406593 1348.92 T C PASS 0/1 37 SYNONYMOUS_CODING LOW SILENT 0.41693 0.41690 0.49031 None None None None None None BLK|0.095762795|51.98%
View mmcs-209a 8 rs2306234
dbSNP Clinvar
11414237 5244.9 T C PASS 1/1 58 SYNONYMOUS_CODING LOW SILENT 0.82768 0.82770 0.18753 None None None None None None BLK|0.095762795|51.98%

C8orf31

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 mmcs-209a 8 rs11136300
dbSNP Clinvar
144124609 5461.13 T C PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70527 0.70530 0.33292 0.06 0.01 None None None None None None C8orf31|0.000375865|99.11%

C8orf34

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 mmcs-209a 8 rs16935065
dbSNP Clinvar
69699756 5243.9 G A PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16833 0.16830 0.18294 0.13 0.00 None None None None None None C8orf34|0.356828577|23.69%

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 mmcs-209a 8 rs6474226
dbSNP Clinvar
40011079 8282.9 G A PASS 1/1 96 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98662 0.98660 0.01107 0.53 0.00 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 mmcs-209a 8 rs11203497
dbSNP Clinvar
13425353 10661.9 T A PASS 1/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98502 0.98500 0.01533 1.00 0.00 None None None None None None C8orf48|0.002033946|90.89%
View mmcs-209a 8 rs13273355
dbSNP Clinvar
13424583 9376.9 C T PASS 1/1 97 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81210 0.81210 0.20894 1.00 0.00 None None None None None None C8orf48|0.002033946|90.89%

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 mmcs-209a 8 . 86126827 5200.86 CAAC CA... PASS 1/1 38 CODON_INSERTION MODERATE 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 mmcs-209a 8 rs11250058
dbSNP Clinvar
10530218 3856.9 C T PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99241 0.99240 0.00008 0.33 0.00 None None None None None None RP1L1|0.000840698|96.44%,C8orf74|0.022006749|73.16%

CA2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 rs703
dbSNP Clinvar
86389403 4796.16 T C PASS 0/1 83 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 rs20571
dbSNP Clinvar
86351997 3775.16 G A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43950 0.43950 0.48578 1.00 0.00 None None None None None None CA3|0.309141355|26.9%

CDCA2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 rs6990278
dbSNP Clinvar
25364960 2837.16 A G PASS 0/1 118 SYNONYMOUS_CODING LOW SILENT 0.19249 0.19250 0.19207 None None None None None None CDCA2|0.009449627|81.34%
View mmcs-209a 8 rs3829009
dbSNP Clinvar
25364834 2915.16 A T PASS 0/1 126 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19249 0.19250 0.19168 0.20 0.01 None None None None None None CDCA2|0.009449627|81.34%
View mmcs-209a 8 rs4872318
dbSNP Clinvar
25364331 3904.9 G A PASS 0/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22644 0.22640 0.25750 0.01 0.34 None None None None None None CDCA2|0.009449627|81.34%
View mmcs-209a 8 rs10108752
dbSNP Clinvar
25323777 6605.9 T C PASS 1/1 81 SYNONYMOUS_CODING LOW SILENT 0.95547 0.95550 0.04598 None None None None None None CDCA2|0.009449627|81.34%

CDH17

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 mmcs-209a 8 rs2243518
dbSNP Clinvar
95188850 8087.9 T C PASS 1/1 99 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80232 0.80230 0.16861 0.52 0.00 None None None None None None CDH17|0.034427264|67.65%
View mmcs-209a 8 rs3214050
dbSNP Clinvar
95186382 5003.13 G A PASS 1/1 65 SYNONYMOUS_CODING LOW SILENT 0.34585 0.34580 0.39013 None None None None None None CDH17|0.034427264|67.65%
View mmcs-209a 8 rs1131830
dbSNP Clinvar
95158382 4866.13 C T PASS 1/1 57 SYNONYMOUS_CODING LOW SILENT 0.43151 0.43150 0.45541 None None None None None None CDH17|0.034427264|67.65%
View mmcs-209a 8 rs1051623
dbSNP Clinvar
95143186 3199.18 C G PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78395 0.78390 0.16639 0.34 0.00 None None None None None None CDH17|0.034427264|67.65%
View mmcs-209a 8 rs1051624
dbSNP Clinvar
95143172 3308.13 T G PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.44269 0.44270 0.47363 0.22 0.00 None None None None None None CDH17|0.034427264|67.65%

CHD7

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 mmcs-209a 8 rs184814820
dbSNP Clinvar
61778448 1900.16 C T PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.00364 0.07 0.11 None None None None None None CHD7|0.942578768|2.4%
View mmcs-209a 8 rs2272727
dbSNP Clinvar
61769195 2430.16 A G PASS 0/1 80 SYNONYMOUS_CODING LOW SILENT 0.03195 0.03195 0.04422 None None None None None None CHD7|0.942578768|2.4%

CHMP4C

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 mmcs-209a 8 rs35094336
dbSNP Clinvar
82670771 1127.16 G A PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04173 0.04173 0.05421 0.01 0.90 None None None None None None CHMP4C|0.143717477|43.91%

CHRNA2

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 mmcs-209a 8 rs891398
dbSNP Clinvar
27324822 2722.16 T C PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61022 0.61020 0.41988 1.00 0.00 None None None None None None CHRNA2|0.020223368|74.06%
View mmcs-209a 8 rs56229264
dbSNP Clinvar
27321189 5591.16 G A PASS 0/1 216 SYNONYMOUS_CODING LOW SILENT 0.00599 0.00599 0.01338 None None None None None None CHRNA2|0.020223368|74.06%

CLDN23

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 mmcs-209a 8 rs2280560
dbSNP Clinvar
8560602 2632.16 C T PASS 0/1 122 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29553 0.29550 0.19371 0.59 0.04 None None None None None None CLDN23|0.024207428|72.13%

CLU

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 mmcs-209a 8 rs7982
dbSNP Clinvar
27462481 3515.92 A G PASS 0/1 112 SYNONYMOUS_CODING LOW SILENT 0.66454 0.66450 0.40212 None None None None None None CLU|0.219123407|34.47%

CNGB3

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 mmcs-209a 8 rs6471482
dbSNP Clinvar
87679303 7481.9 A C PASS 1/1 89 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.95747 0.95750 0.12141 1.00 0.00 None None None None None None CNGB3|0.068013081|57.91%
View mmcs-209a 8 rs4961206
dbSNP Clinvar
87666251 3398.9 T G PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67971 0.67970 0.35941 0.30 0.01 None None None None None None CNGB3|0.068013081|57.91%

CNOT7

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 mmcs-209a 8 rs2959606
dbSNP Clinvar
17092164 4277.9 G T PASS 1/1 46 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
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 rs4463470
dbSNP Clinvar
121383048 7871.13 T C PASS 1/1 106 None None None 0.82668 0.82670 0.01 0.00 None None None None None None COL14A1|0.765229358|6.75%
View mmcs-209a 8 rs4870723
dbSNP Clinvar
121228679 4274.9 A C PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59006 0.59010 0.48401 0.01 0.30 None None None None None None COL14A1|0.765229358|6.75%
View mmcs-209a 8 rs2305600
dbSNP Clinvar
121215991 3342.9 T C PASS 0/1 67 SYNONYMOUS_CODING LOW SILENT 0.63838 0.63840 0.43165 None None None None None None COL14A1|0.765229358|6.75%
View mmcs-209a 8 rs2305598
dbSNP Clinvar
121210069 2798.9 T C PASS 0/1 81 SYNONYMOUS_CODING LOW SILENT 0.63439 0.63440 0.42465 None None None None None None COL14A1|0.765229358|6.75%

COL22A1

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 mmcs-209a 8 rs2292927
dbSNP Clinvar
139838912 5069.9 T C PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83147 0.83150 0.17069 1.00 0.00 None None None None None None COL22A1|0.06710202|58.12%
View mmcs-209a 8 rs10101430
dbSNP Clinvar
139824057 1538.16 G A PASS 1/1 28 SYNONYMOUS_CODING LOW SILENT 0.48063 0.48060 0.49646 None None None None None None COL22A1|0.06710202|58.12%
View mmcs-209a 8 rs9644500
dbSNP Clinvar
139697478 3046.16 T C PASS 0/1 54 SYNONYMOUS_CODING LOW SILENT 0.57867 0.57870 0.45648 None None None None None None COL22A1|0.06710202|58.12%
View mmcs-209a 8 rs10091563
dbSNP Clinvar
139647262 2325.16 A G PASS 0/1 37 SYNONYMOUS_CODING LOW SILENT 0.70986 0.70990 0.26534 None None None None None None COL22A1|0.06710202|58.12%
View mmcs-209a 8 rs4909444
dbSNP Clinvar
139701209 533.16 G T PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29173 0.29170 0.31447 0.62 0.01 None None None None None None COL22A1|0.06710202|58.12%

COMMD5

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 mmcs-209a 8 rs1209879
dbSNP Clinvar
146076708 3727.92 C T PASS 0/1 126 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26837 0.26840 0.27472 0.23 0.03 None None None None None None COMMD5|0.015195338|77.01%,ZNF250|0.008654168|81.98%

COPS5

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 mmcs-209a 8 rs11557200
dbSNP Clinvar
67971452 904.16 T C PASS 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.14597 0.14600 0.12148 None None None None None None COPS5|0.948074866|2.32%

CPQ

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 mmcs-209a 8 rs1864384
dbSNP Clinvar
97847358 2086.16 G T PASS 0/1 77 SYNONYMOUS_CODING LOW SILENT 0.60923 0.60920 0.43618 None None None None None None CPQ|0.160118797|41.51%

CPSF1

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 mmcs-209a 8 rs4317614
dbSNP Clinvar
145623963 4003.9 G A PASS 0/1 68 SYNONYMOUS_CODING LOW SILENT 0.45907 0.45910 0.32616 None None None None None None CPSF1|0.315599788|26.38%

CSGALNACT1

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 mmcs-209a 8 rs7017776
dbSNP Clinvar
19362768 4620.16 C T PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75479 0.75480 0.25780 0.91 0.00 None None None None None None CSGALNACT1|0.134495825|45.18%
View mmcs-209a 8 rs12155539
dbSNP Clinvar
19316086 6942.13 G A PASS 1/1 88 SYNONYMOUS_CODING LOW SILENT 0.00140 0.45890 0.31378 None None None None None None CSGALNACT1|0.134495825|45.18%

CSMD1

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 mmcs-209a 8 rs667595
dbSNP Clinvar
2832139 4499.16 C G PASS 0/1 72 SYNONYMOUS_CODING LOW SILENT 0.75100 0.75100 0.20028 None None None None None None CSMD1|0.119480951|47.53%
View mmcs-209a 8 rs3824271
dbSNP Clinvar
2965244 3303.9 T C PASS 1/1 31 SYNONYMOUS_CODING LOW SILENT 0.83966 0.83970 0.21177 None None None None None None CSMD1|0.119480951|47.53%
View mmcs-209a 8 rs10088378
dbSNP Clinvar
3265590 5235.16 C T PASS 0/1 111 SYNONYMOUS_CODING LOW SILENT 0.60304 0.60300 0.32955 None None None None None None CSMD1|0.119480951|47.53%
View mmcs-209a 8 rs6558703
dbSNP Clinvar
2910020 7688.9 A G PASS 1/1 77 SYNONYMOUS_CODING LOW SILENT 0.98263 0.98260 0.01646 None None None None None None CSMD1|0.119480951|47.53%
View mmcs-209a 8 rs6558702
dbSNP Clinvar
2909992 5727.13 G A PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69289 0.69290 0.26894 0.25 0.13 None None None None None None CSMD1|0.119480951|47.53%
View mmcs-209a 8 rs56109797
dbSNP Clinvar
3351195 1603.16 C A PASS 0/1 69 SYNONYMOUS_CODING LOW SILENT 0.09245 0.09245 0.06937 None None None None None None CSMD1|0.119480951|47.53%
View mmcs-209a 8 rs17066296
dbSNP Clinvar
3351147 2334.92 G A PASS 0/1 55 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.11142 0.11140 0.06649 None None None None None None CSMD1|0.119480951|47.53%

CSMD3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 rs200618397
dbSNP Clinvar
113308175 1727.16 C T PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.00038 0.09 1.00 None None None None None None CSMD3|0.744731001|7.23%
View mmcs-209a 8 rs12155677
dbSNP Clinvar
113484935 1581.16 C T PASS 1/1 25 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.03474 0.03474 0.06420 None None None None None None CSMD3|0.744731001|7.23%
View mmcs-209a 8 rs61753736
dbSNP Clinvar
113253954 839.16 A G PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00998 0.00998 0.01799 0.11 0.06 None None None None None None CSMD3|0.744731001|7.23%

CSPP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 rs16933182
dbSNP Clinvar
68074137 825.16 G A PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14517 0.14520 0.11321 0.00 0.09 None None None None None None CSPP1|0.130183066|45.84%

CTHRC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 rs3098233
dbSNP Clinvar
104394744 4080.16 T C PASS 0/1 77 SYNONYMOUS_CODING LOW SILENT 0.74461 0.74460 0.21698 None None None None None None CTHRC1|0.186760424|38.19%

CTSB

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mmcs-209a 8 rs13332
dbSNP Clinvar
11706581 2102.9 T G PASS 0/1 55 SYNONYMOUS_CODING LOW SILENT 0.07308 0.07308 0.34999 None None None None None None CTSB|0.202646008|36.44%

CYC1

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 mmcs-209a 8 rs7820984
dbSNP Clinvar
145150832 10547.9 A G PASS 1/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96286 0.96290 0.04484 0.49 0.00 None None None None None None CYC1|0.107950243|49.59%
View mmcs-209a 8 rs11541475
dbSNP Clinvar
145150101 3845.9 T G PASS 1/1 45 SYNONYMOUS_CODING LOW SILENT 0.88958 0.88960 None None None None None None CYC1|0.107950243|49.59%

CYHR1

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 mmcs-209a 8 rs2721167
dbSNP Clinvar
145689915 9191.9 G A PASS 1/1 101 None None None 0.91414 0.91410 0.03423 None None None None None None CYHR1|0.053470471|61.63%