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Genes:
A4GNT, AADAC, AADACL2, ABI3BP, AC022498.1, ACAA1, ACAD11, ACAP2, ACKR2, ACTRT3, AHSG, ALCAM, ALG1L, ALS2CL, AMOTL2, ANKUB1, ANO10, ARGFX, ARHGAP31, ARHGEF26, ATG3, ATP13A4, ATP13A5, ATR, ATRIP, ATXN7, BBX, BCHE, BCL6, BSN, BTLA, C3orf17, C3orf18, C3orf20, C3orf30, C3orf33, C3orf52, C3orf70, CAND2, CASR, CCDC14, CCDC37, CCDC39, CCDC50, CCDC66, CCDC71, CD200, CD200R1, CD200R1L, CD86, CDCP1, CEP70, CHDH, CHL1, CHRD, CHST13, CLCN2, CLDN18, CLEC3B, CLSTN2, CMSS1, COL6A5, COL6A6, COLQ, COMMD2, COX17, CP, CPA3, CPN2, CRELD1, CRYBG3, CSPG5, CSRNP1, CTDSPL, CX3CR1, CYP8B1, DAG1, DALRD3, DAZL, DCP1A, DGKG, DHFRL1, DLG1, DNAH1, DNAH12, DNAJC13, DPPA4, DRD3, DTX3L, DZIP1L, EBLN2, ECE2, EFCC1, EFHB, EIF4G1, ENTPD3, EPHA3, EPHA6, ERC2, ESYT3, EXOSC7, FAM107A, FAM131A, FAM194A, FAM198A, FANCD2, FBXW12, FILIP1L, FLNB, FNDC3B, FRG2C, FRMD4B, FYCO1, FYTTD1, GABRR3, GATA2, GBE1, GHRL, GK5, GLB1, GMNC, GMPPB, GNAI2, GNL3, GOLGA4, GOLGB1, GPR156, GPR62, GRM7, GTPBP8, GUCA1C, HCLS1, HEG1, HGD, HHATL, HHLA2, HRG, HTR3C, HTR3D, HTR3E, HYAL2, HYAL3, IFT80, IGSF10, IGSF11, IL17RC, IL17RD, IMPG2, IQCB1, IQCF1, IQSEC1, IRAK2, ITGA9, ITIH1, ITIH3, ITIH4, KALRN, KBTBD12, KCNMB3, KIAA1407, KIAA2018, KIF15, KIF9, KLHL40, KNG1, KPNA1, LAMP3, LINC01100, LMLN, LRIG1, LRRC31, LRRC34, LRRIQ4, LSG1, LTF, MAATS1, MAGEF1, MAGI1, MCCC1, MCF2L2, MED12L, MFN1, MINA, MLH1, MORC1, MST1R, MUC13, MUC20, MUC4, MYH15, MYLK, MYRIP, NAALADL2, NBEAL2, NCEH1, NEK11, NEK4, NISCH, NIT2, NMNAT3, NPCDR1, NR1D2, NT5DC2, NUP210, OPA1, OR5AC1, OR5AC2, OR5H14, OR5H15, OR5H2, OR5H6, OR5K1, OR5K3, OR5K4, OSBPL10, OXSR1, P2RY13, PARP15, PARP3, PARP9, PCYT1A, PDCD6IP, PDE12, PIGZ, PLA1A, PLD1, PLSCR1, PLSCR4, PLXND1, PODXL2, POLQ, POPDC2, PP13439, PP2D1, PPP2R3A, PRRT3, PRSS45, PRSS46, PSMD2, PSMD6, PTPN23, PTX3, PXK, PYDC2, RAD18, RBM5, RBM6, RETNLB, RFTN1, RNF123, RP11-3B7.1, RP11-433C9.2, RP11-434D12.1, RP11-553A10.1, RPL14, RTP1, RTP4, RYBP, RYK, SACM1L, SAMD7, SCAP, SCN10A, SCN5A, SEMA3G, SEMA5B, SENP7, SERPINI2, SETD2, SETD5, SETMAR, SHQ1, SI, SIDT1, SKIL, SLC12A8, SLC15A2, SLC22A14, SLC25A26, SLC2A2, SLC41A3, SLC51A, SLC6A20, SLC9C1, SPCS1, SPICE1, SRPRB, SSUH2, ST3GAL6, STAB1, STXBP5L, SUCLG2, SUSD5, TAMM41, TATDN2, TBC1D5, TDGF1, TF, TFRC, TGM4, THUMPD3, TM4SF19, TMCC1, TMEM110-MUSTN1, TMEM14E, TMEM158, TMEM207, TMEM40, TMEM44, TMIE, TMPRSS7, TOPAZ1, TOPBP1, TPRG1, TPRXL, TRAK1, TRIM42, TRMT10C, TRNT1, TSC22D2, TTC21A, TTLL3, TXNRD3, UBP1, UBXN7, ULK4, UMPS, UPK1B, USP4, UTS2B, VEPH1, VGLL4, VPS8, WDR49, WDR52, XIRP1, XPC, XRN1, XYLB, ZBBX, ZCWPW2, ZDHHC23, ZKSCAN7, ZMYND10, ZNF35, ZNF445, ZNF501, ZNF502, ZNF654, ZNF717, ZNF852, ZNF860, ZPLD1, ZXDC,

Genes at Omim

AHSG, ANO10, ARHGAP31, ATR, ATXN7, BCHE, BCL6, CASR, CCDC39, CCDC50, CLCN2, COLQ, CP, CRELD1, CX3CR1, DAG1, DAZL, DNAH1, DRD3, DZIP1L, EIF4G1, FANCD2, FLNB, FYCO1, GATA2, GBE1, GHRL, GLB1, GMPPB, GNAI2, HGD, HRG, IFT80, IL17RC, IL17RD, IMPG2, IQCB1, ITIH4, KALRN, KLHL40, KNG1, MCCC1, MLH1, MST1R, MYLK, NBEAL2, OPA1, PCYT1A, PLD1, SCN10A, SCN5A, SETD2, SETD5, SI, SLC25A26, SLC2A2, SLC6A20, TDGF1, TF, TFRC, TMIE, TRAK1, TRMT10C, TRNT1, UMPS, XPC, ZMYND10,
AHSG ?Alopecia-mental retardation syndrome 1, 203650 (3)
ANO10 Spinocerebellar ataxia, autosomal recessive 10, 613728 (3)
ARHGAP31 Adams-Oliver syndrome 1, 100300 (3)
ATR ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)
Seckel syndrome 1, 210600 (3)
ATXN7 Spinocerebellar ataxia 7, 164500 (3)
BCHE Butyrylcholinesterase deficiency, 617936 (3)
{Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}, 617936 (3)
BCL6 Lymphoma, B-cell (2)
CASR Hyperparathyroidism, neonatal, 239200 (3)
Hypocalcemia, autosomal dominant, 601198 (3)
Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3)
Hypocalciuric hypercalcemia, type I, 145980 (3)
{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3)
CCDC39 Ciliary dyskinesia, primary, 14, 613807 (3)
CCDC50 ?Deafness, autosomal dominant 44, 607453 (3)
CLCN2 Hyperaldosteronism, familial, type II, 605635 (3)
Leukoencephalopathy with ataxia, 615651 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3)
{Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3)
{Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3)
COLQ Myasthenic syndrome, congenital, 5, 603034 (3)
CP Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3)
Cerebellar ataxia, 604290 (3)
[Hypoceruloplasminemia, hereditary], 604290 (3)
CRELD1 Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3)
{Atrioventricular septal defect, susceptibility to, 2}, 606217 (3)
CX3CR1 {Macular degeneration, age-related, 12}, 613784 (3)
{Rapid progression to AIDS from HIV1 infection}, 609423 (3)
{Coronary artery disease, resistance to}, 607339 (3)
DAG1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3)
DAZL {Spermatogenic failure, susceptibility to} (3)
DNAH1 ?Ciliary dyskinesia, primary, 37, 617577 (3)
Spermatogenic failure 18, 617576 (3)
DRD3 {Essential tremor, hereditary, 1}, 190300 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
DZIP1L Polycystic kidney disease 5, 617610 (3)
EIF4G1 {Parkinson disease 18}, 614251 (3)
FANCD2 Fanconi anemia, complementation group D2, 227646 (3)
FLNB Atelosteogenesis, type I, 108720 (3)
Atelosteogenesis, type III, 108721 (3)
Boomerang dysplasia, 112310 (3)
Larsen syndrome, 150250 (3)
Spondylocarpotarsal synostosis syndrome, 272460 (3)
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
GATA2 {Leukemia, acute myeloid, susceptibility to}, 601626 (3)
{Myelodysplastic syndrome, susceptibility to}, 614286 (3)
Immunodeficiency 21, 614172 (3)
Emberger syndrome, 614038 (3)
GBE1 Glycogen storage disease IV, 232500 (3)
Polyglucosan body disease, adult form, 263570 (3)
GHRL {Obesity, susceptibility to}, 601665 (3)
GLB1 GM1-gangliosidosis, type I, 230500 (3)
GM1-gangliosidosis, type II, 230600 (3)
GM1-gangliosidosis, type III, 230650 (3)
Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)
GNAI2 Pituitary ACTH-secreting adenoma (3)
Ventricular tachycardia, idiopathic, 192605 (3)
HGD Alkaptonuria, 203500 (3)
HRG Thrombophilia due to HRG deficiency, 613116 (3)
Thrombophilia due to elevated HRG, 613116 (1)
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
IL17RC Candidiasis, familial, 9, 616445 (3)
IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3)
IMPG2 Macular dystrophy, vitelliform, 5, 616152 (3)
Retinitis pigmentosa 56, 613581 (3)
IQCB1 Senior-Loken syndrome 5, 609254 (3)
ITIH4 {Hypercholesterolemia, susceptibility to}, 143890 (3)
KALRN {Coronary heart disease, susceptibility to, 5}, 608901 (3)
KLHL40 Nemaline myopathy 8, autosomal recessive, 615348 (3)
KNG1 [High molecular weight kininogen deficiency], 228960 (3)
[Kininogen deficiency], 228960 (3)
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
MLH1 Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3)
Mismatch repair cancer syndrome, 276300 (3)
Muir-Torre syndrome, 158320 (3)
MST1R {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
NBEAL2 Gray platelet syndrome, 139090 (3)
OPA1 {Glaucoma, normal tension, susceptibility to}, 606657 (3)
Behr syndrome, 210000 (3)
Optic atrophy 1, 165500 (3)
Optic atrophy plus syndrome, 125250 (3)
?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3)
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
PLD1 Cardiac valvular defect, developmental, 212093 (3)
SCN10A Episodic pain syndrome, familial, 2, 615551 (3)
SCN5A Atrial fibrillation, familial, 10, 614022 (3)
Brugada syndrome 1, 601144 (3)
Cardiomyopathy, dilated, 1E, 601154 (3)
Heart block, nonprogressive, 113900 (3)
Heart block, progressive, type IA, 113900 (3)
Long QT syndrome-3, 603830 (3)
{Sudden infant death syndrome, susceptibility to}, 272120 (3)
Sick sinus syndrome 1, 608567 (3)
Ventricular fibrillation, familial, 1, 603829 (3)
SETD2 Luscan-Lumish syndrome, 616831 (3)
SETD5 Mental retardation, autosomal dominant 23, 615761 (3)
SI Sucrase-isomaltase deficiency, congenital, 222900 (3)
SLC25A26 Combined oxidative phosphorylation deficiency 28, 616794 (3)
SLC2A2 Fanconi-Bickel syndrome, 227810 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
SLC6A20 Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
TDGF1 Forebrain defects (3)
TF Atransferrinemia, 209300 (3)
TFRC Immunodeficiency 46, 616740 (3)
TMIE Deafness, autosomal recessive 6, 600971 (3)
TRAK1 Epileptic encephalopathy, early infantile, 68, 618201 (3)
TRMT10C Combined oxidative phosphorylation deficiency 30, 616974 (3)
TRNT1 Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3)
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)
UMPS Orotic aciduria, 258900 (3)
XPC Xeroderma pigmentosum, group C, 278720 (3)
ZMYND10 Ciliary dyskinesia, primary, 22, 615444 (3)

Genes at Clinical Genomics Database

ALS2CL, ANO10, ARHGAP31, ATR, ATXN7, BCHE, CASR, CCDC14, CCDC39, CCDC50, CLCN2, COLQ, CP, CRELD1, DAG1, DNAH1, DNAJC13, EIF4G1, FANCD2, FLNB, FYCO1, GATA2, GBE1, GLB1, GMPPB, HGD, HRG, IFT80, IL17RC, IL17RD, IMPG2, IQCB1, KLHL40, KNG1, MCCC1, MLH1, MYLK, NBEAL2, OPA1, PCYT1A, SCN5A, SETD2, SETD5, SI, SLC25A26, SLC2A2, SLC6A20, TDGF1, TF, TFRC, TMIE, TRNT1, UMPS, XPC, ZMYND10,
ALS2CL Schizophrenia
ANO10 Spinocerebellar ataxia, autosomal recessive 10
ARHGAP31 Adams-Oliver syndrome 1
ATR Cutaneous telangiectasia and cancer syndrome, familial
Seckel syndrome 1
ATXN7 Spinocerebellar ataxia 7
BCHE Butyrlcholinesterase deficiency
CASR Hyperparathyroidism, neonatal
Hypocalcemia, autosomal dominant
Hypocalcemia, autosomal dominant, with Bartter syndrome
Hypocalciuric hypercalcemia, type I
Hyperparathyroidism, neonatal severe primary
Hypoparathyroidism, familial isolated
Hyperparathyroidism, familial primary
CCDC14 Hypotonia, infantile, with psychomotor retardation
CCDC39 Ciliary dyskinesia, primary, 14
CCDC50 Deafness, autosomal dominant 44
CLCN2 Epilepsy, idiopathic, generalized, susceptibility to, 11
Epilepsy, juvenile, absence, suscepibility to, 2
Epilepsy, juvenile myoclonic, susceptibility to, 8
Leukoencephalopathy with ataxia
COLQ Myasthenic syndrome, congenital 5
CP Aceruloplasminemia
Hypoceruloplasminemia
CRELD1 Atrioventricular septal defect, partial, with or without heterotaxy
DAG1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
Muscular dystrophy-dystroglycanopathy, type C, 9
DNAH1 Spermatogenic failure
DNAJC13 Parkinson disease 21
EIF4G1 Parkinson disease 18
Macular dystrophy with central cone involvement
FANCD2 Fanconi anemia, complementation group D2
FLNB Larsen syndrome
Spondylocarpotarsal synostosis syndrome
Boomerang dysplasia
Atelosteogenesis, type I
Atelosteogenesis, type III
FYCO1 Cataract, autosomal recessive congenital 2
GATA2 Immunodeficiency 21
Emberger syndrome
Myelodysplastic syndrome
Acute myeloid leukemia, familial
Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia
GBE1 Glycogen storage disease IV
GLB1 Mucopolysaccharidosis type IVB (Morquio syndrome B)
GM1-gangliosidosis, type I
GM1-gangliosidosis, type II
GM1-gangliosidosis, type III
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type B, 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type C, 14
HGD Alkaptonuria
HRG Thrombophilia due to histidine-rich glycoprotein deficiency
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly
IL17RC Candiasis, familial, 9
IL17RD Hypogonadotropic hypogonadism 18, with or without anosmia
IMPG2 Retinitis pigmentosa 56
IQCB1 Senior-Loken syndrome 5
KLHL40 Nemaline myopathy 8
KNG1 High molecular weight kininogen deficiency
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency
MLH1 Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome
Endometrial cancer
Muir-Torre syndrome
MYLK Aortic aneurysm, familial thoracic 7
NBEAL2 Gray platelet syndrome
OPA1 Glaucoma, normal tension, susceptibility to
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy
SCN5A Atrial fibrillation, familial 10
Long QT syndrome 3
Idiopathic ventricular fibrillation
Heart block, progressive, type IA
Heart block, nonprogressive
Sick sinus syndrome 1, autosomal recessive
Cardiomyopathy, dilated, 1E
Brugada syndrome 1
Ventricular fibrillation, familial 1
SETD2 Luscan-Lumish syndrome
SETD5 Mental retardation, autosomal dominant 23
SI Sucrase-isomaltase deficiency, congenital
SLC25A26 Combined oxidative phosphorylation deficiency 28
SLC2A2 Fanconi-Bickel syndrome
Glycogen storage disease XI
Neonatal diabetes mellitus
SLC6A20 Iminoglycinuria, digenic
Hyperglycinuria/Iminoglycinuria, modifier of
TDGF1 Forebrain anomalies
Congenital cardiac malformations
TF Atransferrinemia
TFRC Immunodeficiency 46
TMIE Deafness, autosomal recessive 6
TRNT1 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
UMPS Orotic aciduria
XPC Xeroderma pigmentosum, group C
ZMYND10 Ciliary dyskinesia, primary, 22

Genes at HGMD

Summary

Number of Variants: 796
Number of Genes: 354

Export to: CSV

A4GNT

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs2246945
dbSNP Clinvar
137843476 0.0 G T . 1/. 34 NON_SYNONYMOUS_CODING MODERATE None 0.65375 0.65380 0.33946 0.93 0.00 None None None None None None A4GNT|0.020635171|73.87%

AADAC

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs61733692
dbSNP Clinvar
151545958 0.0 T C . 1/. 30 STOP_LOST HIGH None 0.00100 0.00100 0.00424 None None None None None None AADAC|0.00221398|90.39%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs1803155
dbSNP Clinvar
151545601 0.0 G A . 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.73443 0.73440 0.22189 0.04 0.24 None None None None None None AADAC|0.00221398|90.39%

AADACL2

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs1972977
dbSNP Clinvar
151463421 0.0 G T . 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.70667 0.70670 0.30183 1.00 0.01 None None None None None None AADACL2|0.001976057|91.06%

ABI3BP

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs73135513
dbSNP Clinvar
100532510 0.0 T A . 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.11402 0.11400 0.01 0.04 None None None None None None ABI3BP|0.072954425|56.79%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs36077176
dbSNP Clinvar
100548484 0.0 T C . 1/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.11562 0.11560 1.00 0.00 None None None None None None ABI3BP|0.072954425|56.79%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs9841585
dbSNP Clinvar
100558416 0.0 T C . 1/. 26 NON_SYNONYMOUS_CODING MODERATE None 0.24461 0.24460 0.67 0.00 None None None None None None ABI3BP|0.072954425|56.79%

AC022498.1

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs13096615
dbSNP Clinvar
187897059 0.0 G A . 1/. 31 NON_SYNONYMOUS_CODING MODERATE None 0.55212 0.55210 0.47394 0.00 None None None None None None LPP|0.866185415|4.34%

ACAA1

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs2229528
dbSNP Clinvar
38167095 0.0 A G . 1/. 32 NON_SYNONYMOUS_CODING MODERATE None 0.01198 0.01198 0.02899 0.01 0.48 None None None None None None ACAA1|0.152807913|42.57%

ACAD11

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs821572
dbSNP Clinvar
132360883 0.0 C T . 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ACAD11|0.064924098|58.66%,NPHP3|0.172447635|40.02%

ACAP2

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs6437374
dbSNP Clinvar
195076877 0.0 C G . 1/1 37 None None None 0.44449 0.44450 0.03 0.00 None None None None None None ACAP2|0.547774722|13.85%

ACKR2

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs2228468
dbSNP Clinvar
42907112 0.0 A C . 1/. 42 NON_SYNONYMOUS_CODING MODERATE None 0.00679 0.44110 0.34753 0.63 0.00 None None None None None None ACKR2|0.020748215|73.81%,KRBOX1|0.003506869|87.76%,CYP8B1|0.009872221|80.96%

ACTRT3

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs34273285
dbSNP Clinvar
169485588 0.0 G C . 1/. 41 NON_SYNONYMOUS_CODING MODERATE None 0.01278 0.01278 0.01492 0.11 0.05 None None None None None None ACTRT3|0.019416019|74.48%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs2068178
dbSNP Clinvar
169485639 0.0 C T . 1/. 41 NON_SYNONYMOUS_CODING MODERATE None 0.06909 0.06909 0.03952 0.04 0.57 None None None None None None ACTRT3|0.019416019|74.48%

AHSG

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs4917
dbSNP Clinvar
186337713 0.0 T C . 1/. 41 NON_SYNONYMOUS_CODING MODERATE None 0.73542 0.73540 0.31493 1.00 0.00 None None None None None None AHSG|0.045377146|64.1%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs4918
dbSNP Clinvar
186338382 0.0 G C . 1/. 37 NON_SYNONYMOUS_CODING MODERATE None 0.71366 0.71370 0.34261 0.36 0.00 None None None None None None AHSG|0.045377146|64.1%

ALCAM

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs1044243
dbSNP Clinvar
105260520 0.0 C T . 1/. 45 NON_SYNONYMOUS_CODING MODERATE None 0.05212 0.05212 0.08742 0.07 0.05 None None None None None None ALCAM|0.549351292|13.76%

ALG1L

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs3828357
dbSNP Clinvar
125648356 0.0 T C . 1/. 31 NON_SYNONYMOUS_CODING MODERATE None 0.27716 0.27720 0.32677 0.03 0.16 None None None None None None ALG1L|0.003997673|87.03%

ALS2CL

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs77367607
dbSNP Clinvar
46712490 0.0 G A . 1/. 34 NON_SYNONYMOUS_CODING MODERATE None 0.00639 0.00639 0.01861 0.74 0.06 None None None None None None ALS2CL|0.023531697|72.41%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs7642448
dbSNP Clinvar
46729757 0.0 C G . 1/. 33 NON_SYNONYMOUS_CODING MODERATE None 0.44848 0.44850 0.42134 0.19 0.69 None None None None None None ALS2CL|0.023531697|72.41%

AMOTL2

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs1353776
dbSNP Clinvar
134077470 0.0 C G . 1/. 30 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.26918 1.00 0.00 None None None None None None AMOTL2|0.079628393|55.26%

ANKUB1

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs7610425
dbSNP Clinvar
149485293 0.0 T C . 1/. 36 NON_SYNONYMOUS_CODING MODERATE None 0.26478 0.26480 0.33969 0.31 0.00 None None None None None None ANKUB1|0.042457252|64.97%

ANO10

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs6441771
dbSNP Clinvar
43414318 0.0 A G . 1/1 33 None None None 0.98143 0.98140 0.33 0.00 None None None None None None SNRK|0.096657733|51.77%,ANO10|0.098739999|51.41%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs3772165
dbSNP Clinvar
43602803 0.0 C T . 1/. 44 NON_SYNONYMOUS_CODING MODERATE None 0.66314 0.66310 0.44310 0.54 0.00 None None None None None None ANO10|0.098739999|51.41%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs17409162
dbSNP Clinvar
43591327 0.0 G A . 1/. 41 NON_SYNONYMOUS_CODING MODERATE None 0.03694 0.03694 0.05559 0.16 0.56 None None None None None None ANO10|0.098739999|51.41%

ARGFX

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs9813391
dbSNP Clinvar
121304933 0.0 G A . 1/. 33 NON_SYNONYMOUS_CODING MODERATE None 0.17113 0.17110 0.22943 0.77 0.00 None None None None None None ARGFX|0.001850633|91.41%

ARHGAP31

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs3732413
dbSNP Clinvar
119133183 0.0 G A . 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.84565 0.84560 0.16839 1.00 0.00 None None None None None None ARHGAP31|0.196163887|37.14%

ARHGEF26

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs12493885
dbSNP Clinvar
153839866 0.0 G C . 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.95927 0.95930 0.10090 1.00 0.00 None None None None None None ARHGEF26|0.061409989|59.47%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 . 153839959 0.0 CT TC . 1/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.39 0.00 None None None None None None ARHGEF26|0.061409989|59.47%

ATG3

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs35560667,rs570214747,rs397767079
dbSNP Clinvar
112253058 0.0 C CA . 1/1 21 None None None 0.58390 None None None None None None ATG3|0.504506892|15.59%

ATP13A4

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs6788448
dbSNP Clinvar
193209178 0.0 T C . 1/. 39 NON_SYNONYMOUS_CODING MODERATE None 0.47145 0.47140 0.44180 0.04 0.99 None None None None None None ATP13A4|0.189604914|37.86%

ATP13A5

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs12637558
dbSNP Clinvar
193081122 0.0 G T . 1/. 46 NON_SYNONYMOUS_CODING MODERATE None 0.41594 0.41590 0.36998 0.04 0.37 None None None None None None ATP13A5|0.051025682|62.36%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs6797429
dbSNP Clinvar
193080414 0.0 C G . 1/. 39 NON_SYNONYMOUS_CODING MODERATE None 0.51378 0.51380 0.44895 1.00 0.00 None None None None None None ATP13A5|0.051025682|62.36%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs73888252
dbSNP Clinvar
193036783 0.0 G A . 1/. 18 NON_SYNONYMOUS_CODING MODERATE None 0.20587 0.20590 0.15501 0.10 0.02 None None None None None None ATP13A5|0.051025682|62.36%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs2280268
dbSNP Clinvar
193031926 0.0 C T . 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.53075 0.53080 0.46094 0.44 0.07 None None None None None None ATP13A5|0.051025682|62.36%

ATR

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs2227932
dbSNP Clinvar
142217537 0.0 A G . 1/. 35 SYNONYMOUS_CODING LOW None 0.06689 0.06689 0.07681 None None None None None None ATR|0.696057424|8.61%

ATRIP

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs76493396
dbSNP Clinvar
48506279 0.0 G A . 1/. 34 NON_SYNONYMOUS_CODING MODERATE None 0.00339 0.00340 0.00638 0.02 0.20 None None None None None None ATRIP|0.138780741|44.56%

ATXN7

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs3774729
dbSNP Clinvar
63982082 0.0 G A . 1/. 24 NON_SYNONYMOUS_CODING MODERATE None 0.43770 0.43770 0.39069 1.00 0.00 None None None None None None ATXN7|0.45901663|17.72%

BBX

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs34531902,rs397757043
dbSNP Clinvar
107491758 0.0 TAGA T . 1/. 39 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.03734 0.03734 0.08853 None None None None None None BBX|0.689204143|8.82%

BCHE

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs1803274
dbSNP Clinvar
165491280 0.0 C T . 1/. 28 NON_SYNONYMOUS_CODING MODERATE None 0.15855 0.15850 0.19766 0.13 0.01 None None None None None None BCHE|0.536654702|14.36%

BCL6

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs2229362
dbSNP Clinvar
187446211 0.0 C T . 1/. 29 NON_SYNONYMOUS_CODING MODERATE None 0.18510 0.18510 0.23774 0.29 0.00 None None None None None None BCL6|0.913517921|3.15%

BSN

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs2005557
dbSNP Clinvar
49701298 0.0 G A . 1/. 25 NON_SYNONYMOUS_CODING MODERATE None 0.64038 0.64040 0.48793 0.81 0.00 None None None None None None BSN|0.190182415|37.78%

BTLA

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs2931761
dbSNP Clinvar
112190137 0.0 G T . 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.98822 0.98820 0.00938 1.00 0.00 None None None None None None BTLA|0.003101393|88.51%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs9288952
dbSNP Clinvar
112185025 0.0 G A . 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.64457 0.64460 0.26634 0.69 0.00 None None None None None None BTLA|0.003101393|88.51%

C3orf17

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs7628368
dbSNP Clinvar
112724619 0.0 A G . 1/. 45 NON_SYNONYMOUS_CODING MODERATE None 0.04633 0.04633 0.06036 0.06 0.78 None None None None None None GTPBP8|0.249715548|31.53%,C3orf17|0.030655126|69.13%

C3orf18

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs1034405
dbSNP Clinvar
50597092 0.0 G A . 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.83267 0.83270 0.18894 0.00 1.00 None None None None None None C3orf18|0.106330269|49.91%

C3orf20

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs9821143
dbSNP Clinvar
14724413 0.0 G A . 1/. 29 NON_SYNONYMOUS_CODING MODERATE None 0.29772 0.29770 0.33438 0.29 0.03 None None None None None None C3orf20|0.005924936|84.66%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs6790129
dbSNP Clinvar
14755617 0.0 C G . 1/. 47 NON_SYNONYMOUS_CODING MODERATE None 0.37899 0.37900 0.42742 0.13 0.49 None None None None None None C3orf20|0.005924936|84.66%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs6765537
dbSNP Clinvar
14755572 0.0 A G . 1/. 46 NON_SYNONYMOUS_CODING MODERATE None 0.37820 0.37820 0.42580 0.11 0.23 None None None None None None C3orf20|0.005924936|84.66%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs17040196
dbSNP Clinvar
14745857 0.0 G A . 1/. 35 NON_SYNONYMOUS_CODING MODERATE None 0.37700 0.37700 0.42711 0.48 0.01 None None None None None None C3orf20|0.005924936|84.66%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs17040154
dbSNP Clinvar
14724345 0.0 G A . 1/. 29 NON_SYNONYMOUS_CODING MODERATE None 0.05970 0.05970 0.04375 0.00 1.00 None None None None None None C3orf20|0.005924936|84.66%

C3orf30

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs56317615
dbSNP Clinvar
118866376 0.0 C T . 1/. 28 NON_SYNONYMOUS_CODING MODERATE None 0.18031 0.18030 0.22643 0.40 0.46 None None None None None None C3orf30|0.00022372|99.71%

C3orf33

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs358733
dbSNP Clinvar
155485302 0.0 C T . 1/. 36 NON_SYNONYMOUS_CODING MODERATE None 0.84105 0.84110 0.20533 1.00 0.00 None None None None None None C3orf33|0.031422678|68.82%

C3orf52

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs340167
dbSNP Clinvar
111828423 0.0 G A . 1/1 41 None None None 0.97684 0.97680 0.02493 1.00 0.00 None None None None None None C3orf52|0.003404711|87.92%

C3orf70

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs61740263
dbSNP Clinvar
184801094 0.0 G A . 1/. 36 NON_SYNONYMOUS_CODING MODERATE None 0.06330 0.06330 0.07958 0.12 0.00 None None None None None None C3orf70|0.134052371|45.27%

CAND2

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs12629133
dbSNP Clinvar
12875443 0.0 G A . 1/. 35 NON_SYNONYMOUS_CODING MODERATE None 0.45088 0.45090 0.45833 0.37 0.00 None None None None None None CAND2|0.05381052|61.53%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs3732678
dbSNP Clinvar
12859004 0.0 A C . 1/. 21 NON_SYNONYMOUS_CODING MODERATE None 0.57228 0.57230 0.30232 0.52 0.00 None None None None None None CAND2|0.05381052|61.53%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs2305398
dbSNP Clinvar
12856856 0.0 A G . 1/. 30 NON_SYNONYMOUS_CODING MODERATE None 0.57648 0.57650 0.28354 1.00 0.00 None None None None None None CAND2|0.05381052|61.53%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs2305397
dbSNP Clinvar
12857493 0.0 C T . 1/. 44 NON_SYNONYMOUS_CODING MODERATE None 0.32288 0.32290 0.46712 0.08 0.01 None None None None None None CAND2|0.05381052|61.53%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs11718898
dbSNP Clinvar
12848822 0.0 T C . 1/. 36 NON_SYNONYMOUS_CODING MODERATE None 0.59944 0.59940 0.25953 0.57 0.00 None None None None None None CAND2|0.05381052|61.53%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs3732675
dbSNP Clinvar
12858028 0.0 T C . 1/. 36 NON_SYNONYMOUS_CODING MODERATE None 0.60403 0.60400 0.31315 1.00 0.00 None None None None None None CAND2|0.05381052|61.53%

CASR

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs1801726
dbSNP Clinvar
122003832 0.0 G C . 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.92412 0.92410 0.08219 1.00 0.00 None None None None None None CASR|0.90333935|3.37%

CCDC14

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs17310144
dbSNP Clinvar
123665902 0.0 T G . 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.29852 0.29850 0.47509 0.14 0.37 None None None None None None CCDC14|0.022373795|72.95%

CCDC37

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs140223152
dbSNP Clinvar
126142433 0.0 CGGA C . 1/. 30 CODON_DELETION MODERATE None 0.05431 0.05431 0.09665 None None None None None None CCDC37|0.004773865|86.13%

CCDC39

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs115952495
dbSNP Clinvar
180379773 0.0 C T . 1/. 37 NON_SYNONYMOUS_CODING MODERATE None 0.00599 0.00599 0.00554 0.45 0.00 None None None None None None CCDC39|0.085554052|54.04%

CCDC50

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs4677728
dbSNP Clinvar
191093310 0.0 A G . 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.50220 0.50220 0.48839 0.82 0.03 None None None None None None CCDC50|0.127287096|46.29%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs293813
dbSNP Clinvar
191097966 0.0 T C . 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.64457 0.64460 0.42742 0.79 0.00 None None None None None None CCDC50|0.127287096|46.29%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs2028574
dbSNP Clinvar
191093175 0.0 T A . 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.50160 0.50160 0.48893 0.36 0.00 None None None None None None CCDC50|0.127287096|46.29%

CCDC66

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs7637449
dbSNP Clinvar
56628031 0.0 G A . 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.21506 0.21510 0.40743 0.02 1.00 None None None None None None CCDC66|0.050930369|62.39%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs150150392
dbSNP Clinvar
56591278 0.0 T TG... . 1/1 21 None None None 0.64956 0.64960 0.26437 None None None None None None CCDC66|0.050930369|62.39%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs1491170
dbSNP Clinvar
56627598 0.0 A G . 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.96026 0.96030 0.04590 1.00 0.00 None None None None None None CCDC66|0.050930369|62.39%

CCDC71

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs4955419
dbSNP Clinvar
49200692 0.0 T A . 1/. 34 NON_SYNONYMOUS_CODING MODERATE None 0.71086 0.71090 0.43472 0.16 0.00 None None None None None None CCDC71|0.043058512|64.79%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs4955418
dbSNP Clinvar
49200627 0.0 A G . 1/. 34 NON_SYNONYMOUS_CODING MODERATE None 0.74401 0.74400 0.40381 0.79 0.00 None None None None None None CCDC71|0.043058512|64.79%

CD200

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs1131199
dbSNP Clinvar
112059768 0.0 C G . 1/. 48 NON_SYNONYMOUS_CODING MODERATE None 0.66034 0.66030 0.38928 0.85 0.00 None None None None None None CD200|0.040641984|65.55%

CD200R1

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs4596117
dbSNP Clinvar
112648127 0.0 T G . 1/. 38 NON_SYNONYMOUS_CODING MODERATE None 0.65136 0.65140 0.28110 1.00 0.00 None None None None None None CD200R1|0.001654259|92.1%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs9865242
dbSNP Clinvar
112642568 0.0 C G . 1/. 46 NON_SYNONYMOUS_CODING MODERATE None 0.65116 0.65120 0.41604 1.00 0.00 None None None None None None CD200R1|0.001654259|92.1%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs9826308
dbSNP Clinvar
112647832 0.0 A C . 1/. 43 NON_SYNONYMOUS_CODING MODERATE None 0.65156 0.65160 0.41619 1.00 0.00 None None None None None None CD200R1|0.001654259|92.1%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs2171509
dbSNP Clinvar
112648222 0.0 T C . 1/. 39 NON_SYNONYMOUS_CODING MODERATE None 0.65136 0.65140 0.41673 1.00 0.00 None None None None None None CD200R1|0.001654259|92.1%

CD200R1L

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs4682119
dbSNP Clinvar
112546306 0.0 C A . 1/. 37 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.28830 0.29171 0.01 0.03 None None None None None None CD200R1L|0.000888221|96.09%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs73225776
dbSNP Clinvar
112560104 0.0 C T . 1/. 31 None None None 0.14477 0.14480 0.00 None None None None None None CD200R1L|0.000888221|96.09%

CD86

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs2681417
dbSNP Clinvar
121825197 0.0 G A . 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.86801 0.86800 0.15170 0.40 0.01 None None None None None None CD86|0.042806213|64.85%

CDCP1

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs9874077
dbSNP Clinvar
45127515 0.0 T C . 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.92931 0.92930 0.07243 1.00 0.00 None None None None None None CDCP1|0.021111239|73.62%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs3749191
dbSNP Clinvar
45134822 0.0 T C . 1/. 33 NON_SYNONYMOUS_CODING MODERATE None 0.73203 0.73200 0.38405 0.37 0.00 None None None None None None CDCP1|0.021111239|73.62%

CEP70

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs1673607
dbSNP Clinvar
138289221 0.0 C T . 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.69070 0.69070 0.43323 0.69 0.00 None None None None None None CEP70|0.08409215|54.39%

CHDH

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs12676
dbSNP Clinvar
53857803 0.0 A C . 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.86582 0.86580 0.22784 0.36 0.00 None None None None None None CHDH|0.021054975|73.66%

CHL1

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs6442827
dbSNP Clinvar
439963 0.0 A G . 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.95847 0.95850 0.03921 0.47 0.00 None None None None None None None
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs2272522
dbSNP Clinvar
361508 0.0 C T . 1/. 40 NON_SYNONYMOUS_CODING MODERATE None 0.35204 0.35200 0.30898 1.00 0.00 None None None None None None None
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs13060847
dbSNP Clinvar
391100 0.0 A G . 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.85104 0.85100 0.16231 0.66 0.02 None None None None None None None

CHRD

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs34095724
dbSNP Clinvar
184099050 0.0 C T . 1/. 21 NON_SYNONYMOUS_CODING MODERATE None 0.03894 0.03894 0.05401 0.70 0.01 None None None None None None EIF2B5|0.736636231|7.47%,CHRD|0.912759797|3.17%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs16858780
dbSNP Clinvar
184103903 0.0 A C . 1/. 26 NON_SYNONYMOUS_CODING MODERATE None 0.28654 0.28650 0.22159 1.00 0.00 None None None None None None EIF2B5|0.736636231|7.47%,CHRD|0.912759797|3.17%

CHST13

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs1056523
dbSNP Clinvar
126261207 0.0 C T . 1/. 22 NON_SYNONYMOUS_CODING MODERATE None 0.17372 0.17370 0.17790 0.17 0.52 None None None None None None CHST13|0.027597209|70.61%,C3orf22|0.001090009|94.98%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs1056522
dbSNP Clinvar
126261345 0.0 G A . 1/. 19 NON_SYNONYMOUS_CODING MODERATE None 0.32189 0.32190 0.32984 0.29 0.09 None None None None None None CHST13|0.027597209|70.61%,C3orf22|0.001090009|94.98%

CLCN2

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs9820367
dbSNP Clinvar
184071063 0.0 G C . 1/. 39 NON_SYNONYMOUS_CODING MODERATE None 0.46126 0.46130 0.40620 0.84 0.00 None None None None None None EIF2B5|0.736636231|7.47%,CLCN2|0.338481257|24.94%

CLDN18

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs41265445
dbSNP Clinvar
137717744 0.0 G A . 1/. 33 None None None 0.00180 0.00180 0.00969 0.15 0.07 None None None None None None CLDN18|0.120870953|47.3%

CLEC3B

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs13963
dbSNP Clinvar
45077123 0.0 G A . 1/. 35 NON_SYNONYMOUS_CODING MODERATE None 0.56350 0.56350 0.39920 0.77 0.10 None None None None None None EXOSC7|0.326234939|25.74%,CLEC3B|0.14671786|43.51%

CLSTN2

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs7632885
dbSNP Clinvar
140178485 0.0 G A . 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.53235 0.53230 0.40097 1.00 0.00 None None None None None None CLSTN2|0.522285531|14.88%

CMSS1

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs7629487
dbSNP Clinvar
99860401 0.0 G A . 1/. 26 None None None 0.39617 0.39620 0.00 None None None None None None CMSS1|0.745339696|7.2%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs11537816
dbSNP Clinvar
99886662 0.0 G A . 1/. 35 NON_SYNONYMOUS_CODING MODERATE None 0.12021 0.12020 0.13294 0.61 0.00 None None None None None None CMSS1|0.745339696|7.2%

COL6A5

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 f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs61744488
dbSNP Clinvar
130150310 0.0 A C . 1/. 43 NON_SYNONYMOUS_CODING MODERATE None 0.03295 0.03295 0.03548 0.35 0.00 None None None None None None COL6A5|0.015397469|76.88%
View f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1 3 rs11355796,rs398091810
dbSNP Clinvar
130190720 0.0 AT A . 1/. 34 FRAME_SHIFT HIGH None 0.49161 0.49160 None None None None None None COL6A5|0.015397469|76.88%