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+ Genes 299

Genes:
AARD, ABRA, ADAM18, ADAM28, ADAM32, ADAM7, ADCK5, ADCY8, ADRA1A, AGPAT5, ANGPT2, ANK1, ANKRD46, ANXA13, ARC, ARHGAP39, ARMC1, ASAH1, ASAP1, ASH2L, BAI1, BHLHE22, BIN3, BLK, C8orf34, C8orf4, C8orf48, C8orf58, C8orf59, C8orf74, C8orf82, CA8, CCAR2, CDCA2, CDH17, CHD7, CHMP4C, CHRNA2, CLDN23, CLU, CNGB3, COL22A1, COMMD5, CPA6, CPNE3, CPQ, CPSF1, CRH, CSGALNACT1, CSMD1, CSMD3, CTHRC1, CTSB, CYC1, CYHR1, CYP11B1, CYP11B2, DCSTAMP, DEFA5, DEFB104A, DEFB107A, DEFB136, DENND3, DEPTOR, DGAT1, DLC1, DLGAP2, DOCK5, DPYS, DPYSL2, DSCC1, DUSP4, E2F5, EBF2, EEF1D, EFR3A, ENPP2, EPHX2, EPPK1, ERI1, ERICH1, ESRP1, EXT1, EXTL3, EYA1, FAM160B2, FAM167A, FAM83A, FAM83H, FAM86B1, FAM86B2, FAM91A1, FBXO16, FBXO25, FBXO43, FDFT1, FER1L6, FGF20, FGL1, FZD3, FZD6, GATA4, GDAP1, GFRA2, GINS4, GLI4, GPIHBP1, GPR124, GPR20, GPT, GRINA, GSDMC, GSDMD, GTF2E2, HEY1, HGSNAT, HNF4G, HR, HTRA4, IDO1, IDO2, INTS8, JPH1, KBTBD11, KCNB2, KCNK9, KCNU1, KCTD9, KIAA1429, KIAA1456, KIAA1875, KIF13B, KIFC2, KLF10, KLHL38, LAPTM4B, LEPROTL1, LOXL2, LRRC14, LRRC24, LRRC6, LRRCC1, LY6D, LY6H, LY6K, LY96, MAF1, MAFA, MAK16, MAL2, MAPK15, MATN2, MBOAT4, MCM4, MCPH1, MFHAS1, MROH1, MROH6, MSR1, MTBP, MTMR7, MTMR9, MTSS1, MTUS1, MYOM2, NAPRT1, NAT1, NAT2, NBN, NDRG1, NEFM, NIPAL2, NOV, NRG1, NSMAF, NUDCD1, NUDT18, NUGGC, OC90, ODF1, OPLAH, OTUD6B, OXR1, PAG1, PARP10, PBK, PCM1, PCMTD1, PDGFRL, PDLIM2, PEX2, PHYHIP, PINX1, PKHD1L1, PLAT, PLEC, PLEKHA2, POLR3D, POU5F1B, PRDM14, PREX2, PRKDC, PRR23D1, PRSS55, PSD3, PTK2B, PXDNL, PYCRL, R3HCC1, RAB11FIP1, RAD21, RB1CC1, RBM12B, RECQL4, RGS22, RHOBTB2, RMDN1, RNF122, RP1, RP1L1, SAMD12, SBSPON, SCARA5, SCRIB, SCRT1, SDC2, SGK223, SHARPIN, SLC10A5, SLC25A37, SLC35G5, SLC39A14, SLC39A4, SLC45A4, SLC7A13, SLC7A2, SLCO5A1, SNX31, SORBS3, SPAG1, SPAG11A, SPAG11B, ST18, ST3GAL1, STAR, STAU2, SYBU, TACC1, TAF2, TBC1D31, TDRP, TEX15, TG, TGS1, THEM6, TIGD5, TMEM249, TMEM66, TMEM67, TMEM71, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11B, TNKS, TONSL, TOP1MT, TOX, TRAPPC9, TRIB1, TRPA1, TSNARE1, TSPYL5, TSTA3, TTI2, UBR5, UQCRB, USP17L2, VPS13B, VPS37A, WRN, XKR9, ZC2HC1A, ZC3H3, ZFAT, ZFHX4, ZFP41, ZHX2, ZNF250, ZNF395, ZNF517, ZNF596, ZNF623, ZNF696, ZNF7, ZNF705D, ZNF705G, ZNF707,

+ Genes associated with diseases 73

Genes at Omim

ANK1, ASAH1, BLK, CA8, CHD7, CHRNA2, CNGB3, CPA6, CTHRC1, CTSB, CYC1, CYP11B1, CYP11B2, DGAT1, DLC1, DPYS, EPHX2, ESRP1, EXT1, EXTL3, EYA1, FAM83H, FDFT1, FGF20, FZD6, GATA4, GDAP1, GPIHBP1, GTF2E2, HGSNAT, HR, JPH1, KCNK9, LRRC6, MAFA, MCM4, MCPH1, MFHAS1, MSR1, NAT2, NBN, NDRG1, NRG1, OPLAH, OTUD6B, PDGFRL, PEX2, PLAT, PRKDC, RAD21, RB1CC1, RECQL4, RHOBTB2, RP1, RP1L1, SAMD12, SLC39A14, SLC39A4, SPAG1, STAR, TAF2, TEX15, TG, TMEM67, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TTI2, UQCRB, VPS13B, VPS37A, ZFHX4,
ANK1 Spherocytosis, type 1, 182900 (3)
ASAH1 Farber lipogranulomatosis, 228000 (3)
Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
BLK Maturity-onset diabetes of the young, type 11, 613375 (3)
CA8 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3)
CHD7 CHARGE syndrome, 214800 (3)
Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3)
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
CNGB3 Achromatopsia 3, 262300 (3)
Macular degeneration, juvenile, 248200 (3)
CPA6 Febrile seizures, familial, 11, 614418 (3)
Epilepsy, familial temporal lobe, 5, 614417 (3)
CTHRC1 Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
CTSB Keratolytic winter erythema, 148370 (4)
CYC1 Mitochondrial complex III deficiency, nuclear type 6, 615453 (3)
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)
Aldosteronism, glucocorticoid-remediable, 103900 (3)
CYP11B2 Aldosterone to renin ratio raised (3)
{Low renin hypertension, susceptibility to} (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
DGAT1 ?Diarrhea 7, protein-losing enteropathy type, 615863 (3)
DLC1 Colorectal cancer, somatic, 114500 (3)
DPYS Dihydropyrimidinuria, 222748 (3)
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
ESRP1 ?Deafness, autosomal recessive 109, 618013 (3)
EXT1 Chondrosarcoma, 215300 (3)
Exostoses, multiple, type 1, 133700 (3)
EXTL3 Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3)
EYA1 Anterior segment anomalies with or without cataract, 602588 (3)
Branchiootic syndrome 1, 602588 (3)
Branchiootorenal syndrome 1, with or without cataracts, 113650 (3)
?Otofaciocervical syndrome, 166780 (3)
FAM83H Amelogenesis imperfecta, type IIIA, 130900 (3)
FDFT1 Squalene synthase deficiency, 618156 (3)
FGF20 ?Renal hypodysplasia/aplasia 2, 615721 (3)
FZD6 Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (3)
GATA4 Atrial septal defect 2, 607941 (3)
Atrioventricular septal defect 4, 614430 (3)
?Testicular anomalies with or without congenital heart disease, 615542 (3)
Tetralogy of Fallot, 187500 (3)
Ventricular septal defect 1, 614429 (3)
GDAP1 Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3)
Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
Charcot-Marie-Tooth disease, type 4A, 214400 (3)
GPIHBP1 Hyperlipoproteinemia, type 1D, 615947 (3)
GTF2E2 Trichothiodystrophy 6, nonphotosensitive, 616943 (3)
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Retinitis pigmentosa 73, 616544 (3)
HR Alopecia universalis, 203655 (3)
Atrichia with papular lesions, 209500 (3)
Hypotrichosis 4, 146550 (3)
JPH1 ?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, 607831 (3)
KCNK9 Birk-Barel mental retardation dysmorphism syndrome, 612292 (3)
LRRC6 Ciliary dyskinesia, primary, 19, 614935 (3)
MAFA Insulinomatosis and diabetes mellitus, 147630 (3)
MCM4 Immunodeficiency 54, 609981 (3)
MCPH1 Microcephaly 1, primary, autosomal recessive, 251200 (3)
MFHAS1 Malignant fibrous histiocytoma (2)
MSR1 Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
NAT2 [Acetylation, slow], 243400 (3)
NBN Aplastic anemia, 609135 (3)
Leukemia, acute lymphoblastic, 613065 (3)
Nijmegen breakage syndrome, 251260 (3)
NDRG1 Charcot-Marie-Tooth disease, type 4D, 601455 (3)
NRG1 {?Schizophrenia, susceptibility to}, 603013 (1)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
OTUD6B Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3)
PDGFRL Hepatocellular cancer, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
PEX2 Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3)
Peroxisome biogenesis disorder 5B, 614867 (3)
PLAT Hyperfibrinolysis, familial, due to increased release of PLAT, 612348 (1)
Thrombophilia, familial, due to decreased release of PLAT, 612348 (1)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RAD21 Cornelia de Lange syndrome 4, 614701 (3)
?Mungan syndrome, 611376 (3)
RB1CC1 Breast cancer, somatic, 114480 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RHOBTB2 Epileptic encephalopathy, early infantile, 64, 618004 (3)
RP1 Retinitis pigmentosa 1, 180100 (3)
RP1L1 Occult macular dystrophy, 613587 (3)
SAMD12 Epilepsy, familial adult myoclonic, 1, 601068 (3)
SLC39A14 Hypermanganesemia with dystonia 2, 617013 (3)
?Hyperostosis cranalis interna, 144755 (3)
SLC39A4 Acrodermatitis enteropathica, 201100 (3)
SPAG1 Ciliary dyskinesia, primary, 28, 615505 (3)
STAR Lipoid adrenal hyperplasia, 201710 (3)
TAF2 Mental retardation, autosomal recessive 40, 615599 (3)
TEX15 Spermatogenic failure 25, 617960 (3)
TG Thyroid dyshormonogenesis 3, 274700 (3)
{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
TMEM67 COACH syndrome, 216360 (3)
Joubert syndrome 6, 610688 (3)
Meckel syndrome 3, 607361 (3)
Nephronophthisis 11, 613550 (3)
?RHYNS syndrome, 602152 (3)
{Bardet-Biedl syndrome 14, modifier of}, 615991 (3)
TNFRSF10B Squamous cell carcinoma, head and neck, 275355 (3)
TNFRSF11B Paget disease of bone 5, juvenile-onset, 239000 (3)
TRAPPC9 Mental retardation, autosomal recessive 13, 613192 (3)
TRPA1 ?Episodic pain syndrome, familial, 1, 615040 (3)
TTI2 Mental retardation, autosomal recessive 39, 615541 (3)
UQCRB Mitochondrial complex III deficiency, nuclear type 3, 615158 (3)
VPS13B Cohen syndrome, 216550 (3)
VPS37A Spastic paraplegia 53, autosomal recessive, 614898 (3)
ZFHX4 ?Ptosis, congenital, 178300 (2)

Genes at Clinical Genomics Database

ANK1, ASAH1, BLK, CA8, CHD7, CHRNA2, CNGB3, CPA6, CTHRC1, CYC1, CYP11B1, CYP11B2, DGAT1, DPYS, EXT1, EYA1, FAM83H, FGF20, FZD6, GATA4, GDAP1, GPIHBP1, GTF2E2, HGSNAT, HR, KCNK9, LRRC6, MCM4, MCPH1, MSR1, NAT1, NAT2, NBN, NDRG1, OPLAH, PEX2, PLEC, PRKDC, RAD21, RB1CC1, RECQL4, RP1, RP1L1, SLC39A4, STAR, TAF2, TG, TMEM67, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TTI2, UQCRB, VPS13B, VPS37A, WRN,
ANK1 Spherocytosis, hereditary 1
ASAH1 Farber lipogranulomatosis
Spinal muscular atrophy with progressive myoclonic epilepsy
BLK Maturity-onset diabetes of the young, type 11
CA8 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
CHD7 CHARGE syndrome
Hypogonadotropic hypogonadism 5 with or without anosmia
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4
CNGB3 Achromatopsia 3
Macular degeneration, juvenile
CPA6 Febrile seizures, familial, 11
Epilepsy, familial temporal lobe, 5
CTHRC1 Barrett esophagus/Esophageal adenocarcinoma
CYC1 Mitochondrial complex III deficiency, nuclear type
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Glucocorticoid-remediable aldosteronism
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
DGAT1 Diarrhea 7
DPYS Dihydropyriminidase deficiency
EXT1 Exostoses, multiple, type 1
EYA1 Branchiootic syndrome 1
Branchiootorenal syndrome 1
Otofaciocervical syndrome 1
FAM83H Amelogenesis imperfecta, type 3
FGF20 Renal hypodysplasia/aplasia 2
FZD6 Nail disorder, nonsyndromic noncongenital 10
GATA4 Atrioventricular septal defect 4
Ventricular septal defect 1
Atrial septal defect 2
Testicular anomalies with or without congenital heart disease
Tetralogy of Fallot
GDAP1 Charcot-Marie-Tooth disease, recessive intermediate, A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
Charcot-Marie-Tooth disease, axonal, type 2K
Charcot-Marie-Tooth disease, type 4A
GPIHBP1 Hyperlipoproteinemia, type ID
GTF2E2 Trichothiodystrophy 6, nonphotosensitive
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C)
Retinitis pigmentosa 73
HR Hypotrichosis 4
Atrichia with papular lesions
Alopecia universalis congenita
KCNK9 Birk-Barel mental retardation dysmorphism syndrome
LRRC6 Ciliary dyskinesia, primary 19
MCM4 Natural killer cell and glucocorticoid deficiency with DNA repair defect
MCPH1 Microcephaly, primary autosomal recessive, 1
MSR1 Barrett esophagus/esophageal adenocarcinoma
Prostate cancer
NAT1 Acetylation, NAT1-related
NAT2 Acetylation, NAT2-related
NBN Breast cancer, susceptibility to
Nijmegen breakage syndrome
NDRG1 Charcot-Marie-Tooth disease, type 4D
OPLAH 5-oxoprolinase deficiency
PEX2 Peroxisome biogenesis disorder 5A
Peroxisome biogenesis disorder 5B
PLEC Muscular dystrophy, limb-girdle, type 2Q
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RAD21 Cornelia de Lange syndrome 4
RB1CC1 Schizophrenia
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
RP1 Retinitis pigmentosa 1, autosomal dominant
Retinitis pigmentosa 1, autosomal recessive
RP1L1 Occult macular dystrophy
Retinitis pigmentosa, autosomal recessive
SLC39A4 Acrodermatitis enteropathica
STAR Lipoid adrenal hyperplasia
TAF2 Mental retardation, autosomal recessive 40
TG Thyroid dyshormonogenesis 3
TMEM67 Nephronophthisis 11
Meckel syndrome 3
Joubert syndrome 6
COACH syndrome
TNFRSF10B Squamous cell carcinoma, head and neck
TNFRSF11B Paget disease of bone 5, juvenile
TRAPPC9 Mental retardation, autosomal recessive 13
TRPA1 Episodic pain syndrome, familial
TTI2 Mental retardation, autosomal recessive 39
UQCRB Mitochondrial complex III deficiency
VPS13B Cohen syndrome
VPS37A Spastic paraplegia 53, autosomal recessive
WRN Werner syndrome

Genes at HGMD

Summary

Number of Variants: 899
Number of Genes: 299

Export to: CSV

AARD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs16889283
dbSNP Clinvar 		117950768 784.6 G C PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29752 0.29750 0.22139 1.00 0.00 None None None None None None AARD|0.002413516|89.86%

ABRA
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 i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs11996457
dbSNP Clinvar 		107782335 1279.6 G A PASS 0/1 135 SYNONYMOUS_CODING LOW SILENT 0.28055 0.28060 0.29940 None None None None None None ABRA|0.085117815|54.14%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs11996466
dbSNP Clinvar 		107782395 804.6 G A PASS 0/1 84 SYNONYMOUS_CODING LOW SILENT 0.44090 0.44090 0.40969 None None None None None None ABRA|0.085117815|54.14%

ADAM18
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 i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs12708194
dbSNP Clinvar 		39496029 675.6 T C PASS 0/1 114 SYNONYMOUS_CODING LOW SILENT 0.58846 0.58850 0.30568 None None None None None None ADAM18|0.01116597|79.89%

ADAM28
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 i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs7814768
dbSNP Clinvar 		24211331 2074.03 G A PASS 1/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96705 0.96710 0.02169 1.00 0.00 None None None None None None ADAM28|0.028862647|69.97%

ADAM32
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs7845771
dbSNP Clinvar 		39080632 7157.03 C G PASS 1/1 280 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.95827 0.95830 0.03848 1.00 0.01 None None None None None None ADAM32|0.008880265|81.76%

ADAM7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs13259668
dbSNP Clinvar 		24356818 1069.6 A C PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32628 0.32630 0.33046 0.08 0.00 None None None None None None ADAM7|0.013206563|78.36%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs13277171
dbSNP Clinvar 		24359068 910.6 G A PASS 0/1 130 SYNONYMOUS_CODING LOW SILENT 0.26478 0.26480 0.26265 None None None None None None ADAM7|0.013206563|78.36%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs12547971
dbSNP Clinvar 		24350715 1503.6 G A PASS 0/1 145 SYNONYMOUS_CODING LOW SILENT 0.05391 0.05391 0.07067 None None None None None None ADAM7|0.013206563|78.36%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs13255694
dbSNP Clinvar 		24339679 503.6 G A PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26138 0.26140 0.26096 0.00 1.00 None None None None None None ADAM7|0.013206563|78.36%

ADCK5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs148509143,rs563415390
dbSNP Clinvar 		145617534 656.6 TG... T PASS 0/1 51 None None None 0.62700 0.62700 0.42097 None None None None None None ADCK5|0.009712798|81.05%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs6599528
dbSNP Clinvar 		145603114 1557.6 A C PASS 0/1 122 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63239 0.63240 0.45824 0.80 0.00 None None None None None None ADCK5|0.009712798|81.05%

ADCY8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs12547243
dbSNP Clinvar 		131921956 932.6 A G PASS 0/1 94 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.54473 0.54470 0.42642 None None None None None None ADCY8|0.569570608|13.01%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs2228950
dbSNP Clinvar 		132002770 908.6 G A PASS 0/1 115 SYNONYMOUS_CODING LOW SILENT 0.31030 0.31030 0.32024 None None None None None None ADCY8|0.569570608|13.01%

ADRA1A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs6989854
dbSNP Clinvar 		26636925 1644.6 T C PASS 0/1 147 None None None 0.64377 0.64380 None None None None None None ADRA1A|0.171893562|40.07%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs1048101
dbSNP Clinvar 		26628028 1458.6 A G PASS 0/1 135 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64816 0.64820 0.45494 0.40 0.00 None None None None None None ADRA1A|0.171893562|40.07%

AGPAT5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs145228795
dbSNP Clinvar 		6588258 1417.6 G T PASS 0/1 131 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00120 0.00120 0.00015 0.03 0.71 None None None None None None AGPAT5|0.083981086|54.43%

ANGPT2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs3020221
dbSNP Clinvar 		6378763 1202.6 C T PASS 0/1 145 SYNONYMOUS_CODING LOW SILENT 0.30970 0.30970 0.36529 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs6559167
dbSNP Clinvar 		6389889 5083.02 C A,G PASS 1/2 233 SYNONYMOUS_CODING LOW SILENT 0.28974 0.28970 0.42734 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs1961222
dbSNP Clinvar 		6377433 1411.6 C T PASS 0/1 179 SYNONYMOUS_CODING LOW SILENT 0.14976 0.14980 0.24381 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%

ANK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs2304873
dbSNP Clinvar 		41583294 1206.6 C T PASS 0/1 122 SYNONYMOUS_CODING LOW SILENT 0.10503 0.10500 0.10208 None None None None None None ANK1|0.956309863|2.07%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs750625
dbSNP Clinvar 		41525914 1266.6 C T PASS 0/1 123 SYNONYMOUS_CODING LOW SILENT 0.19469 0.19470 0.23120 None None None None None None ANK1|0.956309863|2.07%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs504574
dbSNP Clinvar 		41553928 1244.6 C G PASS 0/1 142 SYNONYMOUS_CODING LOW SILENT 0.40715 0.40710 0.36285 None None None None None None ANK1|0.956309863|2.07%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs2304871
dbSNP Clinvar 		41585438 1134.6 G A PASS 0/1 122 SYNONYMOUS_CODING LOW SILENT 0.22844 0.22840 0.24965 None None None None None None ANK1|0.956309863|2.07%

ANKRD46
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs11555216
dbSNP Clinvar 		101540153 1614.6 A G PASS 0/1 217 SYNONYMOUS_CODING LOW SILENT 0.02037 0.02037 0.04859 None None None None None None ANKRD46|0.312341362|26.67%

ANXA13
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs2294015
dbSNP Clinvar 		124696867 2074.6 C T PASS 0/1 183 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69609 0.69610 0.31785 1.00 0.00 None None None None None None ANXA13|0.222416197|34.14%

ARC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs2234911
dbSNP Clinvar 		143695144 2183.6 G A PASS 0/1 168 SYNONYMOUS_CODING LOW SILENT 0.49181 0.49180 0.47025 None None None None None None ARC|0.130590354|45.8%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs28686812
dbSNP Clinvar 		143694775 1003.6 G C PASS 0/1 117 SYNONYMOUS_CODING LOW SILENT 0.50060 0.50060 0.49477 None None None None None None ARC|0.130590354|45.8%

ARHGAP39
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs873884
dbSNP Clinvar 		145756170 4591.03 G A PASS 1/1 190 SYNONYMOUS_CODING LOW SILENT 0.38698 0.38700 0.49083 None None None None None None ARHGAP39|0.083072421|54.56%

ARMC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs11559265
dbSNP Clinvar 		66525548 2003.6 T C PASS 0/1 198 SYNONYMOUS_CODING LOW SILENT 0.25619 0.25620 0.24912 None None None None None None ARMC1|0.549639557|13.74%

ASAH1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs1071645
dbSNP Clinvar 		17928811 627.6 C T PASS 0/1 78 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.42053 0.42050 0.42427 0.19 0.00 None None None None None None ASAH1|0.03988949|65.81%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs10103355
dbSNP Clinvar 		17918934 3032.03 A G PASS 1/1 125 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85024 0.85020 0.13340 0.92 0.00 None None None None None None ASAH1|0.03988949|65.81%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs1049874
dbSNP Clinvar 		17927327 402.6 T C PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42053 0.42050 0.42163 0.93 0.00 None None None None None None ASAH1|0.03988949|65.81%

ASAP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs966185
dbSNP Clinvar 		131124559 1564.6 T C PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47444 0.47440 0.39866 0.86 0.00 None None None None None None ASAP1|0.438507149|18.75%

ASH2L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs2843740
dbSNP Clinvar 		37985897 4962.03 A G PASS 1/1 200 SYNONYMOUS_CODING LOW SILENT 0.84804 0.84800 0.08396 None None None None None None ASH2L|0.428566452|19.21%

BAI1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs57661143
dbSNP Clinvar 		143559561 668.6 T C PASS 0/1 85 SYNONYMOUS_CODING LOW SILENT 0.03454 0.03454 0.04157 None None None None None None ADGRB1|0.079978463|55.17%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs112471383
dbSNP Clinvar 		143605650 1315.6 C T PASS 0/1 174 SYNONYMOUS_CODING LOW SILENT 0.01318 0.01318 0.02215 None None None None None None ADGRB1|0.079978463|55.17%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs7460600
dbSNP Clinvar 		143603418 3032.03 G C PASS 1/1 118 SYNONYMOUS_CODING LOW SILENT 0.90375 0.90380 0.09007 None None None None None None ADGRB1|0.079978463|55.17%

BHLHE22
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs564889045,rs34265378,rs745361527,rs71561231
dbSNP Clinvar 		65494020 471.64 G GGCA PASS 0/1 38 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None BHLHE22|0.316142463|26.34%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs7016250
dbSNP Clinvar 		65493429 968.6 T G PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52875 0.52880 0.38499 1.00 0.00 None None None None None None BHLHE22|0.316142463|26.34%

BIN3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs1871900
dbSNP Clinvar 		22481449 2319.03 A G PASS 1/1 90 SYNONYMOUS_CODING LOW SILENT 0.49720 0.49720 0.45654 None None None None None None BIN3|0.312765796|26.64%

BLK
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs3816668
dbSNP Clinvar 		11406593 4045.03 T C PASS 1/1 164 SYNONYMOUS_CODING LOW SILENT 0.41693 0.41690 0.49031 None None None None None None BLK|0.095762795|51.98%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs2306234
dbSNP Clinvar 		11414237 4519.03 T C PASS 1/1 178 SYNONYMOUS_CODING LOW SILENT 0.82768 0.82770 0.18753 None None None None None None BLK|0.095762795|51.98%

C8orf34
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs2289831
dbSNP Clinvar 		69434195 1204.6 T C PASS 0/1 152 SYNONYMOUS_CODING LOW SILENT 0.20727 0.20730 0.21283 None None None None None None C8orf34|0.356828577|23.69%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs16935065
dbSNP Clinvar 		69699756 424.6 G A PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16833 0.16830 0.18294 0.13 0.00 None None None None None None C8orf34|0.356828577|23.69%

C8orf4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs6474226
dbSNP Clinvar 		40011079 3804.03 G A PASS 1/1 148 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98662 0.98660 0.01107 0.53 0.00 None None None None None None C8orf4|0.263856916|30.39%

C8orf48
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs11203497
dbSNP Clinvar 		13425353 4780.03 T A PASS 1/1 185 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98502 0.98500 0.01533 1.00 0.00 None None None None None None C8orf48|0.002033946|90.89%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs13273355
dbSNP Clinvar 		13424583 4608.03 C T PASS 1/1 185 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81210 0.81210 0.20894 1.00 0.00 None None None None None None C8orf48|0.002033946|90.89%

C8orf58
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs202142296
dbSNP Clinvar 		22458760 1093.6 C T PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.00039 0.26 0.00 None None None None None None C8orf58|0.006529487|84.03%

C8orf59
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs112611553
dbSNP Clinvar 		86126827 5095.06 C CA... PASS 1/1 113 CODON_INSERTION MODERATE 0.99720 0.99720 0.00399 None None None None None None E2F5|0.388960651|21.48%,C8orf59|0.106330723|49.9%

C8orf74
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs11250058
dbSNP Clinvar 		10530218 3355.03 C T PASS 1/1 135 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99241 0.99240 0.00008 0.33 0.00 None None None None None None RP1L1|0.000840698|96.44%,C8orf74|0.022006749|73.16%

C8orf82
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs11557085
dbSNP Clinvar 		145752900 366.6 C T PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.39417 0.39420 None None None None None None C8orf82|0.009303358|81.44%

CA8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs7464181
dbSNP Clinvar 		61178574 1909.6 T C PASS 0/1 155 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.50100 0.50100 0.47178 None None None None None None CA8|0.652125387|10.02%

CCAR2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs6558165
dbSNP Clinvar 		22473224 926.6 T C PASS 0/1 115 SYNONYMOUS_CODING LOW SILENT 0.13578 0.13580 0.12986 None None None None None None CCAR2|0.363674682|23.18%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs7843828
dbSNP Clinvar 		22463623 2114.6 C T PASS 0/1 224 SYNONYMOUS_CODING LOW SILENT 0.30351 0.30350 0.31170 None None None None None None CCAR2|0.363674682|23.18%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs3736147
dbSNP Clinvar 		22471824 740.6 G A PASS 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.26937 0.26940 0.26273 None None None None None None CCAR2|0.363674682|23.18%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs6558166
dbSNP Clinvar 		22473281 1980.6 C G PASS 0/1 220 SYNONYMOUS_CODING LOW SILENT 0.13638 0.13640 0.12948 None None None None None None CCAR2|0.363674682|23.18%

CDCA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs10108752
dbSNP Clinvar 		25323777 7325.03 T C PASS 1/1 290 SYNONYMOUS_CODING LOW SILENT 0.95547 0.95550 0.04598 None None None None None None CDCA2|0.009449627|81.34%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs6990278
dbSNP Clinvar 		25364960 742.6 A G PASS 0/1 154 SYNONYMOUS_CODING LOW SILENT 0.19249 0.19250 0.19207 None None None None None None CDCA2|0.009449627|81.34%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs3829009
dbSNP Clinvar 		25364834 1676.6 A T PASS 0/1 181 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19249 0.19250 0.19168 0.20 0.01 None None None None None None CDCA2|0.009449627|81.34%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs4872318
dbSNP Clinvar 		25364331 1360.6 G A PASS 0/1 131 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22644 0.22640 0.25750 0.01 0.34 None None None None None None CDCA2|0.009449627|81.34%

CDH17
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs2243518
dbSNP Clinvar 		95188850 5642.03 T C PASS 1/1 225 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80232 0.80230 0.16861 0.52 0.00 None None None None None None CDH17|0.034427264|67.65%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs1051624
dbSNP Clinvar 		95143172 2323.6 T G PASS 0/1 169 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.44269 0.44270 0.47363 0.22 0.00 None None None None None None CDH17|0.034427264|67.65%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs1051623
dbSNP Clinvar 		95143186 2178.6 C G PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78395 0.78390 0.16639 0.34 0.00 None None None None None None CDH17|0.034427264|67.65%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs1131830
dbSNP Clinvar 		95158382 747.6 C T PASS 0/1 113 SYNONYMOUS_CODING LOW SILENT 0.43151 0.43150 0.45541 None None None None None None CDH17|0.034427264|67.65%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs3214050
dbSNP Clinvar 		95186382 1860.6 G A PASS 0/1 173 SYNONYMOUS_CODING LOW SILENT 0.34585 0.34580 0.39013 None None None None None None CDH17|0.034427264|67.65%

CHD7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs41272435
dbSNP Clinvar 		61654298 2145.6 T A PASS 0/1 202 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00519 0.00519 0.01294 0.02 0.05 None None None None None None CHD7|0.942578768|2.4%

CHMP4C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs35094336
dbSNP Clinvar 		82670771 1209.6 G A PASS 0/1 144 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04173 0.04173 0.05421 0.01 0.90 None None None None None None CHMP4C|0.143717477|43.91%

CHRNA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs891398
dbSNP Clinvar 		27324822 2600.6 T C PASS 0/1 226 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61022 0.61020 0.41988 1.00 0.00 None None None None None None CHRNA2|0.020223368|74.06%

CLDN23
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs201513699
dbSNP Clinvar 		8560176 866.6 G A PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00399 0.00399 0.00462 0.34 0.00 None None None None None None CLDN23|0.024207428|72.13%

CLU
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs7982
dbSNP Clinvar 		27462481 1450.6 A G PASS 0/1 138 SYNONYMOUS_CODING LOW SILENT 0.66454 0.66450 0.40212 None None None None None None CLU|0.219123407|34.47%

CNGB3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs6471482
dbSNP Clinvar 		87679303 6569.03 A C PASS 1/1 261 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.95747 0.95750 0.12141 1.00 0.00 None None None None None None CNGB3|0.068013081|57.91%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs4961206
dbSNP Clinvar 		87666251 1332.6 T G PASS 0/1 171 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67971 0.67970 0.35941 0.30 0.01 None None None None None None CNGB3|0.068013081|57.91%

COL22A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs2292927
dbSNP Clinvar 		139838912 2515.03 T C PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83147 0.83150 0.17069 1.00 0.00 None None None None None None COL22A1|0.06710202|58.12%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs9644500
dbSNP Clinvar 		139697478 2370.03 T C PASS 1/1 95 SYNONYMOUS_CODING LOW SILENT 0.57867 0.57870 0.45648 None None None None None None COL22A1|0.06710202|58.12%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs10091563
dbSNP Clinvar 		139647262 2758.03 A G PASS 1/1 109 SYNONYMOUS_CODING LOW SILENT 0.70986 0.70990 0.26534 None None None None None None COL22A1|0.06710202|58.12%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs10101430
dbSNP Clinvar 		139824057 781.6 G A PASS 0/1 69 SYNONYMOUS_CODING LOW SILENT 0.48063 0.48060 0.49646 None None None None None None COL22A1|0.06710202|58.12%

COMMD5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs1209879
dbSNP Clinvar 		146076708 1138.6 C T PASS 0/1 162 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26837 0.26840 0.27472 0.23 0.03 None None None None None None COMMD5|0.015195338|77.01%,ZNF250|0.008654168|81.98%

CPA6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs17343819
dbSNP Clinvar 		68396915 1110.6 T C PASS 0/1 98 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.07907 0.07907 0.12410 0.35 0.00 None None None None None None CPA6|0.268380229|29.99%

CPNE3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs10956871
dbSNP Clinvar 		87540872 1079.6 G A PASS 0/1 124 SYNONYMOUS_CODING LOW SILENT 0.16474 0.16470 0.26126 None None None None None None CPNE3|0.341445337|24.73%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs2304789
dbSNP Clinvar 		87567193 763.6 C T PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21286 0.21290 0.31678 0.19 0.15 None None None None None None CPNE3|0.341445337|24.73%,CNGB3|0.068013081|57.91%

CPQ
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs1864384
dbSNP Clinvar 		97847358 1750.6 G T PASS 0/1 205 SYNONYMOUS_CODING LOW SILENT 0.60923 0.60920 0.43618 None None None None None None CPQ|0.160118797|41.51%

CPSF1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs4317614
dbSNP Clinvar 		145623963 1624.6 G A PASS 0/1 178 SYNONYMOUS_CODING LOW SILENT 0.45907 0.45910 0.32616 None None None None None None CPSF1|0.315599788|26.38%

CRH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs780597345
dbSNP Clinvar 		67089474 1023.6 T C PASS 0/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12 0.00 None None None None None None CRH|0.729066493|7.69%

CSGALNACT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs7017776
dbSNP Clinvar 		19362768 4436.03 C T PASS 1/1 175 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75479 0.75480 0.25780 0.91 0.00 None None None None None None CSGALNACT1|0.134495825|45.18%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs35971700
dbSNP Clinvar 		19263441 1911.6 G A PASS 0/1 218 SYNONYMOUS_CODING LOW SILENT 0.04253 0.04253 0.05828 None None None None None None CSGALNACT1|0.134495825|45.18%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs12155539
dbSNP Clinvar 		19316086 6038.03 G A PASS 1/1 243 SYNONYMOUS_CODING LOW SILENT 0.00140 0.45890 0.31378 None None None None None None CSGALNACT1|0.134495825|45.18%

CSMD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs10088378
dbSNP Clinvar 		3265590 6672.03 C T PASS 1/1 261 SYNONYMOUS_CODING LOW SILENT 0.60304 0.60300 0.32955 None None None None None None CSMD1|0.119480951|47.53%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs667595
dbSNP Clinvar 		2832139 465.6 C G PASS 0/1 69 SYNONYMOUS_CODING LOW SILENT 0.75100 0.75100 0.20028 None None None None None None CSMD1|0.119480951|47.53%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs6558703
dbSNP Clinvar 		2910020 5079.03 A G PASS 1/1 198 SYNONYMOUS_CODING LOW SILENT 0.98263 0.98260 0.01646 None None None None None None CSMD1|0.119480951|47.53%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs56109797
dbSNP Clinvar 		3351195 1772.6 C A PASS 0/1 217 SYNONYMOUS_CODING LOW SILENT 0.09245 0.09245 0.06937 None None None None None None CSMD1|0.119480951|47.53%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs17066296
dbSNP Clinvar 		3351147 1098.6 G A PASS 0/1 140 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.11142 0.11140 0.06649 None None None None None None CSMD1|0.119480951|47.53%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs3824271
dbSNP Clinvar 		2965244 3175.03 T C PASS 1/1 126 SYNONYMOUS_CODING LOW SILENT 0.83966 0.83970 0.21177 None None None None None None CSMD1|0.119480951|47.53%

CSMD3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs1592624
dbSNP Clinvar 		113241088 2737.03 T G PASS 1/1 107 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71226 0.71230 0.33223 0.25 0.54 None None None None None None CSMD3|0.744731001|7.23%

CTHRC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs3098233
dbSNP Clinvar 		104394744 5757.03 T C PASS 1/1 226 SYNONYMOUS_CODING LOW SILENT 0.74461 0.74460 0.21698 None None None None None None CTHRC1|0.186760424|38.19%

CTSB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs12338
dbSNP Clinvar 		11710888 1450.6 G C PASS 0/1 176 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39597 0.39600 0.36237 0.00 0.05 None None None None None None CTSB|0.202646008|36.44%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs13332
dbSNP Clinvar 		11706581 376.6 T G PASS 0/1 67 SYNONYMOUS_CODING LOW SILENT 0.07308 0.07308 0.34999 None None None None None None CTSB|0.202646008|36.44%

CYC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs7820984
dbSNP Clinvar 		145150832 5227.03 A G PASS 1/1 208 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96286 0.96290 0.04484 0.49 0.00 None None None None None None CYC1|0.107950243|49.59%
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs11541475
dbSNP Clinvar 		145150101 921.03 T G PASS 1/1 36 SYNONYMOUS_CODING LOW SILENT 0.88958 0.88960 None None None None None None CYC1|0.107950243|49.59%

CYHR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered 8 rs2721167
dbSNP Clinvar 		145689915 5063.03 G A PASS 1/1 202 None None None 0.91414 0.91410 0.03423 None None None None None None CYHR1|0.053470471|61.63%