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Genes:
ABCC1, ABHD8, ADAMTS16, ADCY2, AEBP1, AGXT2, AHNAK, AHRR, AK8, ALDH5A1, AMACR, ANKRD52, ANKRD65, AP5B1, APEH, ARVCF, ATAD3C, ATP5I, ATP8B2, BAIAP3, BASP1, BAZ2A, BST1, BTAF1, C11orf16, C16orf3, C5orf34, C6orf201, C7, C7orf60, CA11, CACNA1E, CACNA1H, CACNA1S, CAD, CALM1, CARD10, CCDC120, CCDC152, CCDC176, CCT5, CD2AP, CDC7, CHD3, CHRNB4, CILP, CLEC17A, CLIC1, CLIC6, CLPTM1L, CNGB1, CNTN4, COG7, COL11A2, COL4A3BP, CPEB2, CPXM1, CRIM1, CTD-3193O13.9, CWH43, CYBA, CYP2W1, DARS2, DAXX, DCLK2, DHX40, DKFZP434E1119, DLX4, DNAH5, DNAH8, DNMT1, DPCR1, DROSHA, DSCAM, DYRK1A, ECE1, EFCAB12, EFCAB5, EGFLAM, ELFN2, EMR3, EVI5L, EXOC3L4, F13A1, F13B, F2, FAM161B, FAM173B, FASTKD3, FER1L6, FGR, FHOD1, FNDC7, FOXD4, FOXO1, FSIP2, GOLGA6L4, GPR128, GPR162, GPR25, GRK6, GUF1, HEATR6, HIST1H2BA, HIST1H3C, HYAL1, INO80, IQCC, IREB2, ITGAE, ITIH1, ITIH3, KAT8, KCNC3, KCNQ5, KDM1B, KDM8, KIAA0922, KIAA0947, KIAA1467, KIF13A, KIF22, KIT, KLRB1, KMT2A, KRT2, KRTAP10-12, LDLR, LEF1, LIFR, LILRA2, LMBRD2, LMOD1, LRFN4, LRIF1, LRP1, LRP4, LRRC10B, LRRC37A, LRRC9, LTA, LTBP4, MAD2L2, MAK, MARCH11, MCM7, MDM1, MGAT5B, MMP17, MORC2, MPP6, MROH7, MUC17, MVP, MYBPC2, MYH1, MYO10, MYO7A, MYO9B, NBAS, NCOR1, NDUFB10, NFKB2, NIN, NLGN3, NLRP1, NLRP7, NMI, NOTCH4, NRP2, OMG, OR10J3, OR13C8, OR2T8, OR6C6, OR6J1, OR7D4, ORC2, ORMDL2, PAK2, PATL1, PDLIM7, PDPR, PEAK1, PEG3, PER3, PGD, PGM2, PHC2, PLD2, PMS2, POLE2, POLH, POLM, POMT2, PPFIA4, PPP1R12A, PRAMEF18, PRICKLE3, PRPF3, PRSS12, PSMC3, RANBP3L, RBL1, RBM15B, RHPN1, RNF168, ROBO4, RPL9, RPP40, RSL1D1, RSPH6A, RSPO3, SCAF1, SCD, SCN3A, SECISBP2L, SEMA5A, SHCBP1, SIGLEC7, SLC1A3, SLC22A13, SLC34A2, SLCO1A2, SLCO5A1, SLIT2, SOGA1, SPEF1, SPEF2, SPEN, SPOCK2, SPRYD3, SRL, SSFA2, STC1, STK36, TAF10, TBC1D20, TBC1D32, TDP2, TEX2, TEX28P1, TGFBR3L, TMEM194A, TMEM30B, TMEM80, TMPRSS3, TNR, TNRC6C, TOP3A, TP53, TPM2, TRAF3, TRAPPC11, TRIM49B, TRIP13, TRPC1, UBLCP1, UTP20, VN1R2, VPS18, VWA8, WARS2, WDR5, WDR81, WHSC1L1, WIZ, ZBTB41, ZC3H3, ZER1, ZFR, ZFYVE16, ZMAT4, ZMIZ2, ZNF225, ZNF461, ZNF550, ZNF587B, ZNF622, ZNF646, ZZEF1,

Genes at Omim

ALDH5A1, AMACR, C7, CACNA1H, CACNA1S, CAD, CALM1, CCT5, CD2AP, CILP, CNGB1, COG7, COL11A2, COL4A3BP, CYBA, DARS2, DLX4, DNAH5, DNMT1, DYRK1A, ECE1, F13A1, F13B, F2, GUF1, HYAL1, KCNC3, KIF22, KIT, KMT2A, KRT2, LDLR, LEF1, LIFR, LRP4, LTA, LTBP4, MAK, MORC2, MYO7A, MYO9B, NBAS, NFKB2, NIN, NLGN3, NLRP1, PER3, PMS2, POLH, POMT2, PRPF3, PRSS12, RNF168, SLC1A3, SLC34A2, TBC1D20, TDP2, TMPRSS3, TP53, TPM2, TRAF3, TRAPPC11, WDR81, WHSC1L1,
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
C7 C7 deficiency, 610102 (3)
CACNA1H Hyperaldosteronism, familial, type IV, 617027 (3)
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CACNA1S Hypokalemic periodic paralysis, type 1, 170400 (3)
{Malignant hyperthermia susceptibility 5}, 601887 (3)
{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
CAD ?Congenital disorder of glycosylation, type Iz, 616457 (3)
CALM1 Long QT syndrome 14, 616247 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CD2AP Glomerulosclerosis, focal segmental, 3, 607832 (3)
CILP {Lumbar disc disease, susceptibility to}, 603932 (3)
CNGB1 Retinitis pigmentosa 45, 613767 (3)
COG7 Congenital disorder of glycosylation, type IIe, 608779 (3)
COL11A2 Deafness, autosomal dominant 13, 601868 (3)
Deafness, autosomal recessive 53, 609706 (3)
Fibrochondrogenesis 2, 614524 (3)
Otospondylomegaepiphyseal dysplasia, 215150 (3)
Stickler syndrome, type III, 184840 (3)
Weissenbacher-Zweymuller syndrome, 277610 (3)
COL4A3BP Mental retardation, autosomal dominant 34, 616351 (3)
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
DLX4 ?Orofacial cleft 15, 616788 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
DYRK1A Mental retardation, autosomal dominant 7, 614104 (3)
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)
{Hypertension, essential, susceptibility to}, 145500 (3)
F13A1 Factor XIIIA deficiency, 613225 (3)
{Myocardial infarction, protection against}, 608446 (3)
{Venous thrombosis, protection against}, 188050 (3)
F13B Factor XIIIB deficiency, 613235 (3)
F2 Dysprothrombinemia, 613679 (3)
Hypoprothrombinemia, 613679 (3)
Thrombophilia due to thrombin defect, 188050 (3)
{Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
HYAL1 ?Mucopolysaccharidosis type IX, 601492 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
KIT Gastrointestinal stromal tumor, familial, 606764 (3)
Germ cell tumors, 273300 (3)
Leukemia, acute myeloid, 601626 (3)
Mast cell disease, 154800 (3)
Piebaldism, 172800 (3)
KMT2A Leukemia, myeloid/lymphoid or mixed-lineage (2)
Wiedemann-Steiner syndrome, 605130 (3)
KRT2 Ichthyosis bullosa of Siemens, 146800 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LEF1 Sebaceous tumors, somatic (3)
LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
LRP4 ?Myasthenic syndrome, congenital, 17, 616304 (3)
Cenani-Lenz syndactyly syndrome, 212780 (3)
Sclerosteosis 2, 614305 (3)
LTA {Leprosy, susceptibility to, 4}, 610988 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAK Retinitis pigmentosa 62, 614181 (3)
MORC2 Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3)
MYO7A Deafness, autosomal dominant 11, 601317 (3)
Deafness, autosomal recessive 2, 600060 (3)
Usher syndrome, type 1B, 276900 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NBAS Infantile liver failure syndrome 2, 616483 (3)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
NIN ?Seckel syndrome 7, 614851 (3)
NLGN3 {Asperger syndrome susceptibility, X-linked 1}, 300494 (3)
{Autism susceptibility, X-linked 1}, 300425 (3)
NLRP1 ?Corneal intraepithelial dyskeratosis and ectodermal dysplasia, 615225 (3)
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
PER3 ?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
POLH Xeroderma pigmentosum, variant type, 278750 (3)
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
PRPF3 Retinitis pigmentosa 18, 601414 (3)
PRSS12 Mental retardation, autosomal recessive 1, 249500 (3)
RNF168 RIDDLE syndrome, 611943 (3)
SLC1A3 Episodic ataxia, type 6, 612656 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
TBC1D20 Warburg micro syndrome 4, 615663 (3)
TDP2 Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
TMPRSS3 Deafness, autosomal recessive 8/10, 601072 (3)
TP53 Adrenal cortical carcinoma, 202300 (3)
Breast cancer, 114480 (3)
Choroid plexus papilloma, 260500 (3)
Colorectal cancer, 114500 (3)
Hepatocellular carcinoma, 114550 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, 607107 (3)
Osteosarcoma, 259500 (3)
Pancreatic cancer, 260350 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Glioma susceptibility 1}, 137800 (3)
TPM2 Arthrogryposis multiplex congenita, distal, type 1, 108120 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
CAP myopathy 2, 609285 (3)
Nemaline myopathy 4, autosomal dominant, 609285 (3)
TRAF3 {?Herpes simplex encephalitis, susceptibility to, 3}, 614849 (3)
TRAPPC11 Muscular dystrophy, limb-girdle, type 2S, 615356 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
WHSC1L1 Leukemia, acute myeloid, 601626 (3)

Genes at Clinical Genomics Database

ALDH5A1, AMACR, C7, CACNA1S, CAD, CALM1, CCT5, CD2AP, CNGB1, COG7, COL11A2, COL4A3BP, CYBA, DARS2, DLX4, DNAH5, DNMT1, DYRK1A, ECE1, F13A1, F13B, F2, HYAL1, KCNC3, KIF22, KIT, KMT2A, KRT2, LDLR, LIFR, LRP1, LRP4, LTBP4, MAK, MORC2, MYO7A, NBAS, NFKB2, NIN, NLGN3, NLRP1, NLRP7, PER3, PMS2, POLH, POMT2, PRPF3, PRSS12, RNF168, SLC1A3, SLC34A2, TBC1D20, TDP2, TMPRSS3, TP53, TPM2, TRAF3, TRAPPC11, WDR81,
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency
AMACR Alpha-methylacyl-CoA racemase deficiency
Bile acid synthesis defect, congenital, 4
C7 Complement component 7 deficiency
CACNA1S Hypokalemic periodic paralysis, type 1
Thyrotoxic period paralysis, susceptibility 1
Malignant hyperthermia susceptibility 5
CAD Congenital disorder of glycosylation, type Iz
CALM1 Ventricular tachycardia, catecholaminergic polymorphic, 4
Recurrent cardiac arrest, infantile
Long QT syndrome 14
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
CD2AP Focal segmental glomerulosclerosis 3
CNGB1 Retinitis pigmentosa 45
COG7 Congenital disorder of glycosylation, type IIe
COL11A2 Stickler syndrome, type III
Otospondylomegaepiphyseal dysplasia
Weissenbacher-Zweymuller syndrome
Fibrochondrogenesis 2
Deafness, autosomal recessive 53
Deafness, autosomal dominant 13
COL4A3BP Mental retardation, autosomal dominant 34
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DLX4 Orofacial cleft 15
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
Neuropathy, hereditary sensory, type IE
DYRK1A Mental retardation, autosomal dominant 7
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction
F13A1 Factor XIIIA deficiency
F13B Factor XIIIB deficiency
F2 Thrombophilia due to thrombin defect
Prothrombin deficiency, congenital
HYAL1 Mucopolysaccharidosis type IX
KCNC3 Spinocerebellar ataxia 13
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2
KIT Gastrointestinal stromal tumor
KMT2A Wiedemann-Steiner syndrome
KRT2 Ichthyosis exfoliativa
Ichthyosis bullosa of Siemens
LDLR Hypercholesterolemia, familial
LIFR Stuve-Wiedemann syndrome
LRP1 Schizophrenia
LRP4 Sclerosteosis 2
Myasthenic syndrome, congenital 17
Cenani-Lenz syndactyly syndrome
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAK Retinitis pigmentosa 62
MORC2 Charcot-Marie-Tooth disease type, axonal, type 2Z
MYO7A Usher syndrome, type 1B
Deafness, autosomal recessive 2
NBAS Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
Infantile liver failure syndrome 2
NFKB2 Immunodeficiency, common variable, 10
NIN Seckel syndrome 7
NLGN3 Autism, X-linked 1
Asperger syndrome, X-linked 1
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
NLRP7 Hydatidiform mole, recurrent, 1
PER3 Advanced sleep phase syndrome, familial, 3
PMS2 Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 4
POLH Xeroderma pigmentosum, variant type
POMT2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
PRPF3 Retinitis pigmentosa 18
PRSS12 Mental retardation, autosomal recessive 1
RNF168 RIDDLE syndrome
SLC1A3 Episodic ataxia, type 6
SLC34A2 Pulmonary alveolar microlithiasis
TBC1D20 Warburg micro syndrome 4
TDP2 Spinocerebellar ataxia, autosomal recessive 23
TMPRSS3 Deafness, autosomal recessive 8
Deafness, autosomal recessive 10
TP53 Colorectal cancer
Adrenocortical carcinoma
Non-Hodgkin lymphoma
Hepatoblastoma
Breast cancer, familial
Osteogenic sarcoma
Ependymoma, intracranial
Choroid plexus papilloma
Li-Fraumeni syndrome
TPM2 Arthrogryposis, distal, type 2B
Arthrogryposis, distal, type 1A
CAP myopathy
Nemaline myopathy 4
TRAF3 Herpes simplex encephalitis, susceptibility to, 3
TRAPPC11 Limb-girdle muscular dystrophy, type 2S
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2

Genes at HGMD

Summary

Number of Variants: 313
Number of Genes: 281

Export to: CSV

ABCC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 16138344 14960.56 GT G PASS 1/1 85 FRAME_SHIFT HIGH None None None None None None None

ABHD8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 17405591 173947.24 A AG... PASS 1/1 52 FRAME_SHIFT HIGH None None None None None None None

ADAMTS16

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 5186299 1002.9 A AGG PASS 1/1 5 FRAME_SHIFT HIGH None None None None None None None

ADCY2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 7757570 235.63 TG... T PASS 0/1 21 FRAME_SHIFT HIGH None None None None None None None

AEBP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 7 . 44146187 945.79 GC G PASS 0/1 13 FRAME_SHIFT HIGH None None None None None None None

AGXT2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 35026594 1190.28 GA G,GAA PASS 0/1 15 FRAME_SHIFT HIGH None None None None None None None

AHNAK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 62296427 33097.79 C CA PASS 1/1 72 FRAME_SHIFT HIGH None None None None None None None

AHRR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 428051 5249.91 GC G PASS 1/1 28 FRAME_SHIFT HIGH None None None None None None None

AK8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 135702420 25393.63 A AC PASS 0/1 15 FRAME_SHIFT HIGH None None None None None None None

ALDH5A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 24520633 249.71 AGT AG... PASS 0/1 5 FRAME_SHIFT HIGH None None None None None None None

AMACR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 34008101 2993.35 CC... C PASS 0/1 13 FRAME_SHIFT HIGH None None None None None None None

ANKRD52

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 12 . 56638439 342.17 GA G,GAA PASS 0/1 25 FRAME_SHIFT HIGH None None None None None None None

ANKRD65

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 1355779 91.05 GA G PASS 1/1 2 FRAME_SHIFT HIGH None None None None None None None

AP5B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 65547343 16627.52 CG C PASS 0/1 5 FRAME_SHIFT HIGH None None None None None None None

APEH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 3 . 49720317 254.45 GA G,GAA PASS 1/1 2 FRAME_SHIFT HIGH None None None None None None None

ARVCF

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 22 . 19967393 164.28 AT A,ATT PASS 0/2 30 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 19968739 14958.26 G GC PASS 0/1 55 FRAME_SHIFT HIGH None None None None None None None

ATAD3C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 1387763 20771.28 CCT C PASS 1/1 15 FRAME_SHIFT HIGH None None None None None None None

ATP5I

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 4 . 667723 13.63 GC G PASS 0/1 12 FRAME_SHIFT HIGH None None None None None None None

ATP8B2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 154321356 52.69 CCT C PASS 0/1 7 FRAME_SHIFT HIGH None None None None None None None

BAIAP3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 1397340 342.87 CCG C,* PASS 0/1 40 FRAME_SHIFT HIGH None None None None None None None

BASP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 17275944 9590.99 CC... CC... PASS 1/1 1 FRAME_SHIFT HIGH None None None None None None None

BAZ2A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 12 . 56994757 92.39 CGT C PASS 0/1 50 FRAME_SHIFT HIGH None None None None None None None

BST1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 4 . 15704879 12821.84 G GTC PASS 0/1 60 FRAME_SHIFT HIGH None None None None None None None

BTAF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 10 . 93702253 16.64 CA C PASS 0/1 43 FRAME_SHIFT HIGH None None None None None None None

C11orf16

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 8947331 3758.27 GA... G PASS 1/1 54 FRAME_SHIFT HIGH None None None None None None None

C16orf3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 90095557 19095.66 GT G PASS 1/1 13 FRAME_SHIFT HIGH None None None None None None None

C5orf34

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 43509360 117207.93 T TC PASS 1/1 110 FRAME_SHIFT HIGH None None None None None None None

C6orf201

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 4122224 1086.77 CT C,CTT PASS 0/1 3 FRAME_SHIFT HIGH None None None None None None None

C7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 40950055 2537.4 C CT PASS 0/1 73 FRAME_SHIFT HIGH None None None None None None None

C7orf60

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 7 . 112461852 11995.48 ATT AT,A PASS 0/1 19 FRAME_SHIFT HIGH None None None None None None None

CA11

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 49148871 26806.13 GT G PASS 0/1 33 FRAME_SHIFT HIGH None None None None None None None

CACNA1E

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 181745330 7448.38 AT A,TT PASS 0/1 30 FRAME_SHIFT HIGH None None None None None None None

CACNA1H

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 1261512 3602.67 G GGGCA PASS 0/1 94 FRAME_SHIFT HIGH None None None None None None None

CACNA1S

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 201039454 2466.88 T TG PASS 0/1 67 FRAME_SHIFT HIGH None None None None None None None

CAD

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 2 . 27460932 29.63 CA C PASS 0/1 10 FRAME_SHIFT HIGH None None None None None None None

CALM1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 14 . 90870805 14.03 CTT C PASS 0/1 6 FRAME_SHIFT HIGH None None None None None None None

CARD10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 22 . 37912041 36031.18 AT... AT... PASS 0/1 15 FRAME_SHIFT HIGH None None None None None None None

CCDC120

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered X . 48921964 29.95 AC A PASS 0/1 3 FRAME_SHIFT HIGH None None None None None None None

CCDC152

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 42779584 423.51 G GA PASS 0/1 34 FRAME_SHIFT HIGH None None None None None None None

CCDC176

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 14 . 74516788 985.11 GT G PASS 1/1 12 FRAME_SHIFT HIGH None None None None None None None

CCT5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 10263351 52324.85 GA G,* PASS 2/2 41 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10263341 78955.33 GA G PASS 1/1 47 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10263342 77587.28 AG AGG,* PASS 2/2 47 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10263350 50116.96 GGA G,* PASS 2/2 41 FRAME_SHIFT HIGH None None None None None None None

CD2AP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 47544817 21.65 TA T PASS 0/1 8 FRAME_SHIFT HIGH None None None None None None None

CDC7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 91981404 17685.6 T TTGTA PASS 0/1 12 FRAME_SHIFT HIGH None None None None None None None

CHD3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 7798808 5612.03 GC... G PASS 0/1 6 FRAME_SHIFT HIGH None None None None None None None

CHRNB4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 15 . 78933471 1347.43 CT C PASS 0/1 69 FRAME_SHIFT HIGH None None None None None None None

CILP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 15 . 65490113 71534.98 A AT PASS 0/1 10 FRAME_SHIFT HIGH None None None None None None None

CLEC17A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 14720942 1418.17 AC A PASS 0/1 93 FRAME_SHIFT HIGH None None None None None None None

CLIC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 31701372 9191.78 TAC T PASS 0/1 22 FRAME_SHIFT HIGH None None None None None None None

CLIC6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 21 . 36041896 4088.5 C CA... PASS 0/1 12 FRAME_SHIFT HIGH None None None None None None None

CLPTM1L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 1335270 4787.37 CTG C PASS 0/1 27 FRAME_SHIFT HIGH None None None None None None None

CNGB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 57957219 23737.74 GC G PASS 1/1 26 FRAME_SHIFT HIGH None None None None None None None

CNTN4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 3 . 3076321 4403.44 TTG T PASS 0/1 27 FRAME_SHIFT HIGH None None None None None None None

COG7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 23445969 4756.32 TAA T,TA PASS 0/1 2 FRAME_SHIFT HIGH None None None None None None None

COL11A2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 33133423 1023.07 T TA PASS 1/1 15 FRAME_SHIFT HIGH None None None None None None None

COL4A3BP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 74721255 5257.3 CTG C PASS 0/1 11 FRAME_SHIFT HIGH None None None None None None None

CPEB2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 4 . 15004479 277.41 T TGA PASS 0/1 6 FRAME_SHIFT HIGH None None None None None None None

CPXM1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 20 . 2774932 37.58 G GC PASS 0/1 6 FRAME_SHIFT HIGH None None None None None None None

CRIM1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 2 . 36774243 680.29 CT... C PASS 0/1 22 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 36774258 735.57 C CT PASS 0/1 23 FRAME_SHIFT HIGH None None None None None None None

CTD-3193O13.9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 7935167 196.86 CTT CT... PASS 0/1 4 FRAME_SHIFT HIGH None None None None None None None

CWH43

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 4 . 48988459 31396.16 CTT CT... PASS 1/1 23 FRAME_SHIFT HIGH None None None None None None None

CYBA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 88713544 78400.1 C CCT PASS 0/1 24 FRAME_SHIFT HIGH None None None None None None None

CYP2W1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 7 . 1028439 173.1 C CG PASS 0/1 9 FRAME_SHIFT HIGH None None None None None None None

DARS2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 173826665 9769.41 CT CT... PASS 0/1 5 FRAME_SHIFT HIGH None None None None None None None

DAXX

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 33286779 122775.36 C CG PASS 1/1 40 FRAME_SHIFT HIGH None None None None None None None

DCLK2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 4 . 151120217 21.3 CA C PASS 0/1 9 FRAME_SHIFT HIGH None None None None None None None

DHX40

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 57679952 2360.97 A AT PASS 1/1 75 FRAME_SHIFT HIGH None None None None None None None

DKFZP434E1119

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 77184725 8751.8 GG... G PASS 0/1 63 FRAME_SHIFT HIGH None None None None None None None

DLX4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 48050478 50.14 CAA C PASS 0/1 9 FRAME_SHIFT HIGH None None None None None None None

DNAH5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 13810342 670.3 CAT C PASS 0/1 31 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 13867994 30737.55 TA T PASS 1/1 83 FRAME_SHIFT HIGH None None None None None None None

DNAH8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 38917234 107649.8 TA T PASS 0/1 18 FRAME_SHIFT HIGH None None None None None None None

DNMT1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 10252779 3766.99 C CT PASS 0/1 37 FRAME_SHIFT HIGH None None None None None None None

DPCR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 30920003 58168.66 C CT... PASS 1/1 4 FRAME_SHIFT HIGH None None None None None None None

DROSHA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 31508826 17491.11 GT GT... PASS 1/2 13 FRAME_SHIFT HIGH None None None None None None None

DSCAM

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 21 . 41427713 4054.53 A AC PASS 1/1 97 FRAME_SHIFT HIGH None None None None None None None

DYRK1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 21 . 38878437 26892.01 T TA... PASS 0/1 12 FRAME_SHIFT HIGH None None None None None None None

ECE1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 21563291 5647.27 CG C PASS 1/1 26 FRAME_SHIFT HIGH None None None None None None None

EFCAB12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 3 . 129140359 476265.43 C CTTAG PASS 1/1 28 FRAME_SHIFT HIGH None None None None None None None

EFCAB5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 28326964 1677.38 AT A,ATT PASS 1/1 1 FRAME_SHIFT HIGH None None None None None None None

EGFLAM

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 38407171 28142.61 A AT PASS 0/1 19 FRAME_SHIFT HIGH None None None None None None None

ELFN2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 22 . 37769216 7217.72 CG C PASS 0/1 51 FRAME_SHIFT HIGH None None None None None None None

EMR3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 14752407 1704.63 TG... T PASS 0/1 131 FRAME_SHIFT HIGH None None None None None None None

EVI5L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 7927364 9598.37 TG T PASS 0/1 45 FRAME_SHIFT HIGH None None None None None None None

EXOC3L4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 14 . 103574078 7781.06 CT... CT... PASS 1/1 1 FRAME_SHIFT HIGH None None None None None None None

F13A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 6266938 37.63 CA C PASS 0/1 6 FRAME_SHIFT HIGH None None None None None None None

F13B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 197009703 38.32 GT G PASS 0/1 25 FRAME_SHIFT HIGH None None None None None None None

F2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 46751093 1209.63 CA C PASS 0/1 66 FRAME_SHIFT HIGH None None None None None None None

FAM161B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 14 . 74409252 608.65 AT A,ATT PASS 0/1 14 FRAME_SHIFT HIGH None None None None None None None

FAM173B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 10227711 31443.58 C CCT PASS 0/1 12 FRAME_SHIFT HIGH None None None None None None None

FASTKD3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 7866022 30528.18 TT... T PASS 0/1 36 FRAME_SHIFT HIGH None None None None None None None

FER1L6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 8 . 125078704 10554.36 TG... T PASS 0/1 22 FRAME_SHIFT HIGH None None None None None None None

FGR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 27942322 758.81 C CG PASS 0/1 44 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 27942318 732.8 T TC PASS 0/1 43 FRAME_SHIFT HIGH None None None None None None None

FHOD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 67281220 13987.82 CT C,... PASS 0/1 23 FRAME_SHIFT HIGH None None None None None None None

FNDC7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 109270614 22726.73 TT... T PASS 0/1 61 FRAME_SHIFT HIGH None None None None None None None