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Genes:
AARD, AC090186.1, ADAM18, ADAM28, ADAM32, ADAM7, ADAMDEC1, ADCK5, ADHFE1, ADRA1A, AGO2, AGPAT5, ANGPT2, ANK1, ANXA13, ARC, ARHGAP39, ARMC1, ASAH1, ASAP1, ASH2L, ATP6V1B2, BAI1, BLK, C8orf31, C8orf4, C8orf48, C8orf49, C8orf59, C8orf74, CA2, CCAR2, CDCA2, CDH17, CHD7, CHRNA2, CLDN23, CLU, CNBD1, CNGB3, CNOT7, COL14A1, COL22A1, CPA6, CPQ, CPSF1, CSGALNACT1, CSMD1, CSMD3, CTHRC1, CTSB, CYC1, CYHR1, CYP11B1, CYP11B2, DCAF13, DCSTAMP, DEFA4, DEFA5, DEFB106A, DEFB107A, DEFB136, DENND3, DEPTOR, DGAT1, DLC1, DLGAP2, DOCK5, DOK2, DPYSL2, DUSP4, EBF2, EEF1D, EFR3A, ELP3, ENPP2, EPPK1, ERI1, ERICH1, ESRP1, EXT1, EYA1, FAM135B, FAM160B2, FAM167A, FAM83H, FAM91A1, FBXO16, FBXO32, FBXO43, FDFT1, FER1L6, FGL1, FP15737, FUT10, FZD3, FZD6, GDAP1, GEM, GFRA2, GGH, GLI4, GML, GNRH1, GPIHBP1, GPR20, GPT, GRINA, GSDMC, GSDMD, HGSNAT, HHLA1, HNF4G, HR, IDO2, IL7, INTS10, INTS8, KAT6A, KCNB2, KCNK9, KCNU1, KIAA0196, KIAA1456, KIAA1875, KIF13B, KIFC2, KLF10, KLHL38, LOXL2, LRRC14, LRRC24, LRRC6, LRRCC1, LY6D, LY6K, LY96, LYPD2, LZTS1, MAF1, MAK16, MAPK15, MATN2, MBOAT4, MCPH1, MFHAS1, MROH1, MROH5, MROH6, MSR1, MSRA, MTBP, MTMR7, MTMR9, MTUS1, MYC, MYOM2, NAPRT1, NAT2, NDUFB9, NEFM, NKAIN3, NOV, NPBWR1, NPM2, NRBP2, NRG1, NSMAF, NSMCE2, NUDCD1, NUDT18, NUGGC, OC90, ODF1, OPLAH, OPRK1, OXR1, PABPC1, PAG1, PARP10, PCM1, PCMTD1, PDGFRL, PDLIM2, PEBP4, PEX2, PHF20L1, PHYHIP, PKHD1L1, PLAT, PLEC, PLEKHA2, PMP2, POLR3D, POP1, POU5F1B, PPP1R3B, PRDM14, PREX2, PRKDC, PRR23D1, PRSS55, PSD3, PTK2B, PXDNL, PYCRL, R3HCC1, RAB11FIP1, RECQL4, RHOBTB2, RIMS2, RMDN1, RNF122, RNF139, RP1, RP11-10A14.4, RP11-422N16.3, RP11-521M14.2, RP11-758M4.1, RP1L1, RSPO2, SAMD12, SCARA5, SCRIB, SFTPC, SH2D4A, SLC10A5, SLC18A1, SLC20A2, SLC25A37, SLC30A8, SLC39A14, SLC39A4, SLC7A13, SLCO5A1, SNTG1, SNX31, SORBS3, SOX7, SPAG1, SPAG11B, SQLE, ST3GAL1, STAR, STAU2, SYBU, TACC1, TATDN1, TEX15, TG, TGS1, THEM6, TIGD5, TMEM249, TMEM66, TMEM67, TMEM70, TMEM71, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11B, TNKS, TONSL, TOP1MT, TPD52, TRAPPC9, TRMT12, TRPA1, TSPYL5, TTI2, UTP23, VPS13B, WRN, XPO7, ZC2HC1A, ZC3H3, ZFAT, ZFHX4, ZFP41, ZFPM2, ZHX2, ZNF16, ZNF250, ZNF395, ZNF517, ZNF572, ZNF623, ZNF696, ZNF707,

Genes at Omim

ANK1, ASAH1, BLK, CA2, CHD7, CHRNA2, CNGB3, CPA6, CTHRC1, CYC1, CYP11B1, CYP11B2, DGAT1, DLC1, EXT1, EYA1, FAM83H, FZD6, GDAP1, GNRH1, GPIHBP1, HGSNAT, HR, KAT6A, KCNK9, KIAA0196, LRRC6, LZTS1, MCPH1, MFHAS1, MSR1, MYC, NAT2, NDUFB9, NRG1, OPLAH, PDGFRL, PEX2, PLAT, PRKDC, RECQL4, RNF139, RP1, RP1L1, SFTPC, SLC20A2, SLC30A8, SLC39A14, SLC39A4, SPAG1, STAR, TG, TMEM67, TMEM70, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TTI2, VPS13B, ZFHX4, ZFPM2,
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)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CHD7 CHARGE syndrome, 214800 (3)
Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3)
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
CNGB3 Achromatopsia-3, 262300 (3)
Macular degeneration, juvenile, 248200 (3)
CPA6 Epilepsy, familial temporal lobe, 5, 614417 (3)
Febrile seizures, familial, 11, 614418 (3)
CTHRC1 Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
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)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
{Low renin hypertension, susceptibility to} (3)
DGAT1 ?Diarrhea 7, 615863 (3)
DLC1 Colorectal cancer, somatic, 114500 (3)
EXT1 Chondrosarcoma, 215300 (3)
Exostoses, multiple, type 1, 133700 (3)
EYA1 ?Otofaciocervical syndrome, 166780 (3)
Anterior segment anomalies with or without cataract, 113650 (3)
Branchiootic syndrome 1, 602588 (3)
Branchiootorenal syndrome 1, with or without cataracts, 113650 (3)
FAM83H Amelogenesis imperfecta, type III, 130900 (3)
FZD6 Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (3)
GDAP1 Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3)
Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
Charcot-Marie-Tooth disease, type 4A, 214400 (3)
GNRH1 ?Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3)
GPIHBP1 Hyperlipoproteinemia, type 1D, 615947 (3)
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Retinitis pigmentosa 73, 616544 (3)
HR Alopecia universalis, 203655 (3)
Atrichia with papular lesions, 209500 (3)
Hypotrichosis 4, 146550 (3)
KAT6A Mental retardation, autosomal dominant 32, 616268 (3)
KCNK9 Birk-Barel mental retardation dysmorphism syndrome, 612292 (3)
KIAA0196 Ritscher-Schinzel syndrome 1, 220210 (3)
Spastic paraplegia 8, autosomal dominant, 603563 (3)
LRRC6 Ciliary dyskinesia, primary, 19, 614935 (3)
LZTS1 Esophageal squamous cell carcinoma, 133239 (3)
MCPH1 Microcephaly 1, primary, autosomal recessive, 251200 (3)
MFHAS1 Malignant fibrous histiocytoma (2)
MSR1 Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
Prostate cancer, hereditary, 176807 (3)
MYC Burkitt lymphoma, 113970 (3)
NAT2 [Acetylation, slow], 243400 (3)
NDUFB9 ?Mitochondrial complex I deficiency, 252010 (3)
NRG1 {?Schizophrenia, susceptibility to}, 603013 (1)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
PDGFRL Colorectal cancer, somatic, 114500 (3)
Hepatocellular cancer, somatic, 114550 (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)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RNF139 Renal cell carcinoma, 144700 (3)
RP1 Retinitis pigmentosa 1, 180100 (3)
RP1L1 Occult macular dystrophy, 613587 (3)
SFTPC Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)
SLC20A2 Basal ganglia calcification, idiopathic, 1, 213600 (3)
SLC30A8 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
SLC39A14 Hypermanganesemia with dystonia 2, 617013 (3)
SLC39A4 Acrodermatitis enteropathica, 201100 (3)
SPAG1 Ciliary dyskinesia, primary, 28, 615505 (3)
STAR Lipoid adrenal hyperplasia, 201710 (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)
{Bardet-Biedl syndrome 14, modifier of}, 615991 (3)
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (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, 615040 (3)
TTI2 Mental retardation, autosomal recessive 39, 615541 (3)
VPS13B Cohen syndrome, 216550 (3)
ZFHX4 ?Ptosis, congenital, 178300 (2)
ZFPM2 46XY sex reversal 9, 616067 (3)
Diaphragmatic hernia 3, 610187 (3)
Tetralogy of Fallot, 187500 (3)

Genes at Clinical Genomics Database

ANK1, ASAH1, ATP6V1B2, BLK, CA2, CHD7, CHRNA2, CNGB3, CPA6, CTHRC1, CYC1, CYP11B1, CYP11B2, DGAT1, EXT1, EYA1, FAM83H, FZD6, GDAP1, GNRH1, GPIHBP1, HGSNAT, HR, KAT6A, KCNK9, KIAA0196, LRRC6, MCPH1, MSR1, NAT2, OPLAH, PEX2, PLEC, PRKDC, RECQL4, RNF139, RP1, RP1L1, SFTPC, SLC20A2, SLC39A4, STAR, TG, TMEM67, TMEM70, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TTI2, VPS13B, WRN, ZFPM2,
ANK1 Spherocytosis, hereditary 1
ASAH1 Spinal muscular atrophy with progressive myoclonic epilepsy
Farber lipogranulomatosis
ATP6V1B2 Zimmermann-Laband syndrome 2
Deafness, congenital, with onychodystrophy, autosomal dominant
BLK Maturity-onset diabetes of the young, type 11
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CHD7 Hypogonadotropic hypogonadism 5 with or without anosmia
CHARGE syndrome
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4
CNGB3 Macular degeneration, juvenile
Achromatopsia 3
CPA6 Epilepsy, familial temporal lobe, 5
Febrile seizures, familial, 11
CTHRC1 Barrett esophagus/Esophageal adenocarcinoma
CYC1 Mitochondrial complex III deficiency, nuclear type
CYP11B1 Glucocorticoid-remediable aldosteronism
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
CYP11B2 Glucocorticoid-remediable aldosteronism
Corticosterone methyloxidase type II deficiency
Corticosterone methyloxidase type I deficiency
DGAT1 Diarrhea 7
EXT1 Exostoses, multiple, type 1
EYA1 Otofaciocervical syndrome 1
Branchiootorenal syndrome 1
Branchiootic syndrome 1
FAM83H Amelogenesis imperfecta, type 3
FZD6 Nail disorder, nonsyndromic noncongenital 10
GDAP1 Charcot-Marie-Tooth disease, type 4A
Charcot-Marie-Tooth disease, axonal, type 2K
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
Charcot-Marie-Tooth disease, recessive intermediate, A
GNRH1 Hypogonadotropic hypogonadism 12 with or without anosmia
GPIHBP1 Hyperlipoproteinemia, type ID
HGSNAT Retinitis pigmentosa 73
Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C)
HR Alopecia universalis congenita
Atrichia with papular lesions
Hypotrichosis 4
KAT6A Mental retardation, autosomal dominant 32
KCNK9 Birk-Barel mental retardation dysmorphism syndrome
KIAA0196 Ritscher-Schinzel syndrome 1 (3C syndrome)
Spastic paraplegia 8
LRRC6 Ciliary dyskinesia, primary 19
MCPH1 Microcephaly, primary autosomal recessive, 1
MSR1 Prostate cancer
Barrett esophagus/esophageal adenocarcinoma
NAT2 Acetylation, NAT2-related
OPLAH 5-oxoprolinase deficiency
PEX2 Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder 5A
PLEC Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Muscular dystrophy, limb-girdle, type 2Q
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RECQL4 Rothmund-Thomson syndrome
RAPADILINO syndrome
Baller-Gerold syndrome
RNF139 Renal cell carcinoma, clear cell
RP1 Retinitis pigmentosa 1, autosomal recessive
Retinitis pigmentosa 1, autosomal dominant
RP1L1 Retinitis pigmentosa, autosomal recessive
Occult macular dystrophy
SFTPC Surfactant metabolism dysfunction, pulmonary, 2
SLC20A2 Basal ganglia calcification, idiopathic, 1
SLC39A4 Acrodermatitis enteropathica
STAR Lipoid adrenal hyperplasia
TG Thyroid dyshormonogenesis 3
TMEM67 COACH syndrome
Joubert syndrome 6
Meckel syndrome 3
Nephronophthisis 11
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TNFRSF10B Squamous cell carcinoma, head and neck
TNFRSF11B Paget disease of bone 5, juvenile
TRAPPC9 Mental retardation, autosomal recessive 13
TRPA1 Episodic pain syndrome, familial
TTI2 Mental retardation, autosomal recessive 39
VPS13B Cohen syndrome
WRN Werner syndrome
ZFPM2 46,XY sex reversal 9

Genes at HGMD

Summary

Number of Variants: 3046
Number of Genes: 291

Export to: CSV

AARD

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs16889283
dbSNP
117950768 147.77 G C PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29752 0.29750 0.22139 1.00 0.00 None None None None None None None

AC090186.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs6768
dbSNP
52730441 1047.77 T C PASS 0/1 211 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62 None None None None None None None

ADAM18

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs12708194
dbSNP
39496029 190.77 T C PASS 0/1 13 SYNONYMOUS_CODING LOW SILENT 0.58846 0.58850 0.30568 None None None None None None None

ADAM28

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs7814768
dbSNP
24211331 591.77 G A PASS 1/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96705 0.96710 0.02169 1.00 0.00 None None None None None None None

ADAM32

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs4517088
dbSNP
38964647 103.77 G A PASS 0/1 15 None None None 0.44549 0.44550 0.01 0.00 None None None None None None None
View hp37_1_filt_10x 8 rs7845771
dbSNP
39080632 895.77 C G PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.95827 0.95830 0.03848 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 8 rs59118660
dbSNP
38965271 585.77 C T PASS 0/1 40 START_GAINED LOW 0.43790 0.43790 0.33230 None None None None None None None
View hp37_1_filt_10x 8 rs61753544
dbSNP
39068684 173.77 T A PASS 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.00040 0.00040 0.00254 None None None None None None None

ADAM7

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs13259668
dbSNP
24356818 247.77 A C PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32628 0.32630 0.33046 0.08 0.00 None None None None None None None
View hp37_1_filt_10x 8 rs13277171
dbSNP
24359068 250.77 G A PASS 0/1 34 SYNONYMOUS_CODING LOW SILENT 0.26478 0.26480 0.26265 None None None None None None None

ADAMDEC1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs201994292
dbSNP
24251644 226.77 C T PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00140 0.00140 0.01 0.97 None None None None None None None
View hp37_1_filt_10x 8 rs2291577
dbSNP
24256470 411.77 C T PASS 0/1 43 SYNONYMOUS_CODING LOW SILENT 0.29293 0.29290 0.34269 None None None None None None None
View hp37_1_filt_10x 8 rs3765124
dbSNP
24261526 823.77 A G PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29493 0.29490 0.34453 0.09 0.10 None None None None None None None

ADCK5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs6599528
dbSNP
145603114 48.77 A C PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63239 0.63240 0.45824 0.82 0.00 None None None None None None None

ADHFE1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs1060242
dbSNP
67380528 1574.77 T C PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57947 0.57950 0.44349 1.00 0.00 None None None None None None None

ADRA1A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs6989854
dbSNP
26636925 428.77 T C PASS 0/1 39 None None None 0.64377 0.64380 None None None None None None None
View hp37_1_filt_10x 8 rs1048101
dbSNP
26628028 470.77 A G PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64816 0.64820 0.45494 0.40 0.00 None None None None None None None
View hp37_1_filt_10x 8 rs60593443
dbSNP
26636906 452.77 T A PASS 0/1 44 None None None 0.24361 0.24360 0.05 0.12 None None None None None None None

AGO2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs2292778
dbSNP
141568622 444.77 G A PASS 0/1 40 SYNONYMOUS_CODING LOW SILENT 0.65555 0.65560 0.37175 None None None None None None None
View hp37_1_filt_10x 8 rs2292781
dbSNP
141559358 302.77 G A PASS 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.47244 0.47240 0.39734 None None None None None None None
View hp37_1_filt_10x 8 rs2271738
dbSNP
141566311 45.77 C T PASS 0/1 10 SYNONYMOUS_CODING LOW SILENT 0.44928 0.44930 0.34753 None None None None None None None

AGPAT5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs62497278
dbSNP
6566351 206.77 C G PASS 0/1 32 SYNONYMOUS_CODING LOW SILENT 0.12460 0.12460 0.05528 None None None None None None None

ANGPT2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs1961222
dbSNP
6377433 539.77 C T PASS 0/1 37 SYNONYMOUS_CODING LOW SILENT 0.14976 0.14980 0.24381 None None None None None None None
View hp37_1_filt_10x 8 rs6559167
dbSNP
6389889 1233.77 C A,G PASS 1/2 57 SYNONYMOUS_CODING LOW SILENT 0.28974 0.28970 0.42734 None None None None None None None
View hp37_1_filt_10x 8 rs3020221
dbSNP
6378763 274.77 C T PASS 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.30970 0.30970 0.36529 None None None None None None None

ANK1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs504574
dbSNP
41553928 547.77 C G PASS 1/1 23 SYNONYMOUS_CODING LOW SILENT 0.40715 0.40710 0.36285 None None None None None None None
View hp37_1_filt_10x 8 rs1137177
dbSNP
41563685 53.77 G A PASS 0/1 16 SYNONYMOUS_CODING LOW SILENT 0.18091 0.18090 0.19637 None None None None None None None
View hp37_1_filt_10x 8 rs2304880
dbSNP
41559609 170.77 G A PASS 0/1 20 SYNONYMOUS_CODING LOW SILENT 0.18071 0.18070 0.19622 None None None None None None None

ANXA13

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs2294015
dbSNP
124696867 145.77 C T PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69609 0.69610 0.31785 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 8 rs2294013
dbSNP
124710729 351.77 C T PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23403 0.23400 0.29479 0.12 0.01 None None None None None None None

ARC

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs2234911
dbSNP
143695144 775.77 G A PASS 1/1 31 SYNONYMOUS_CODING LOW SILENT 0.49181 0.49180 0.47025 None None None None None None None

ARHGAP39

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs138155129
dbSNP
145773341 676.73 TCTG T PASS 0/1 41 CODON_DELETION MODERATE 0.01777 0.01777 0.05398 None None None None None None None

ARMC1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs11559265
dbSNP
66525548 53.77 T C PASS 0/1 13 SYNONYMOUS_CODING LOW SILENT 0.25619 0.25620 0.24912 None None None None None None None

ASAH1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs3753115
dbSNP
17930772 57.77 C T PASS 0/1 18 None None None 0.41354 0.41350 0.42394 0.33 0.00 None None None None None None None
View hp37_1_filt_10x 8 rs1071645
dbSNP
17928811 167.77 C T PASS 0/1 13 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.42053 0.42050 0.42427 0.19 0.00 None None None None None None None
View hp37_1_filt_10x 8 rs1049874
dbSNP
17927327 117.77 T C PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42053 0.42050 0.42163 0.93 0.00 None None None None None None None
View hp37_1_filt_10x 8 rs10103355
dbSNP
17918934 732.77 A G PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85024 0.85020 0.13340 0.92 0.00 None None None None None None None

ASAP1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs13265869
dbSNP
131353139 778.77 T C PASS 0/1 77 None None None 0.56350 0.56350 None None None None None None None
View hp37_1_filt_10x 8 rs966185
dbSNP
131124559 347.77 T C PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47444 0.47440 0.39866 0.86 0.00 None None None None None None None

ASH2L

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs2843740
dbSNP
37985897 545.77 A G PASS 1/1 23 SYNONYMOUS_CODING LOW SILENT 0.84804 0.84800 0.08396 None None None None None None None

ATP6V1B2

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs17092154
dbSNP
20061477 703.77 A C PASS 0/1 67 None None None 0.09824 0.09824 None None None None None None None

BAI1

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs34364916
dbSNP
143623459 260.77 G T PASS 0/1 32 SYNONYMOUS_CODING LOW SILENT 0.14816 0.14820 0.11141 None None None None None None None
View hp37_1_filt_10x 8 rs7460600
dbSNP
143603418 226.84 G C PASS 1/1 12 SYNONYMOUS_CODING LOW SILENT 0.90375 0.90380 0.09007 None None None None None None None

BLK

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs2306234
dbSNP
11414237 617.77 T C PASS 1/1 28 SYNONYMOUS_CODING LOW SILENT 0.82768 0.82770 0.18753 None None None None None None None

C8orf31

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs11136300
dbSNP
144124609 319.77 T C PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70527 0.70530 0.33292 0.06 0.00 None None None None None None None

C8orf4

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs6474226
dbSNP
40011079 805.77 G A PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98662 0.98660 0.01107 0.53 0.00 None None None None None None None

C8orf48

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs13273355
dbSNP
13424583 858.77 C T PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81210 0.81210 0.20894 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 8 rs11203497
dbSNP
13425353 1139.77 T A PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98502 0.98500 0.01533 1.00 0.00 None None None None None None None

C8orf49

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs36018280
dbSNP
11619397 1191.77 G A PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11741 0.11740 0.60 0.01 None None None None None None None
View hp37_1_filt_10x 8 rs2740431
dbSNP
11619261 993.77 T A PASS 1/1 46 SYNONYMOUS_CODING LOW SILENT 0.94329 0.94330 None None None None None None None

C8orf59

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs112611553
dbSNP
86126827 1507.73 C CA... PASS 1/1 17 CODON_INSERTION MODERATE 0.99720 0.99720 0.00399 None None None None None None None

C8orf74

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs11250058
dbSNP
10530218 500.77 C T PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99241 0.99240 0.00008 0.33 0.02 None None None None None None None

CA2

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs703
dbSNP
86389403 233.77 T C PASS 0/1 39 PROTEIN_INTERACTION_LOCUS HIGH 0.57768 0.57770 0.35691 None None None None None None None

CCAR2

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs7843828
dbSNP
22463623 258.77 C T PASS 0/1 38 SYNONYMOUS_CODING LOW SILENT 0.30351 0.30350 0.31170 None None None None None None None
View hp37_1_filt_10x 8 rs3736147
dbSNP
22471824 794.77 G A PASS 0/1 48 SYNONYMOUS_CODING LOW SILENT 0.26937 0.26940 0.26273 None None None None None None None

CDCA2

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs4872318
dbSNP
25364331 319.77 G A PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22644 0.22640 0.25750 0.01 0.64 None None None None None None None
View hp37_1_filt_10x 8 rs10108752
dbSNP
25323777 280.78 T C PASS 1/1 10 SYNONYMOUS_CODING LOW SILENT 0.95547 0.95550 0.04598 None None None None None None None

CDH17

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs2243518
dbSNP
95188850 464.77 T C PASS 1/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80232 0.80230 0.16861 0.52 0.00 None None None None None None None
View hp37_1_filt_10x 8 rs3214050
dbSNP
95186382 104.77 G A PASS 0/1 13 SYNONYMOUS_CODING LOW SILENT 0.34585 0.34580 0.39013 None None None None None None None

CHD7

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs79302359
dbSNP
61707572 161.77 T C PASS 0/1 20 SYNONYMOUS_CODING LOW SILENT 0.02556 0.02556 0.01991 None None None None None None None
View hp37_1_filt_10x 8 rs2068096
dbSNP
61765560 188.77 G A PASS 0/1 21 SYNONYMOUS_CODING LOW SILENT 0.12420 0.12420 0.11991 None None None None None None None

CHRNA2

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs891398
dbSNP
27324822 74.77 T C PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61022 0.61020 0.41988 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 8 rs56229264
dbSNP
27321189 310.77 G A PASS 0/1 43 SYNONYMOUS_CODING LOW SILENT 0.00599 0.00599 0.01338 None None None None None None None

CLDN23

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs2280560
dbSNP
8560602 261.77 C T PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29553 0.29550 0.19371 0.59 0.04 None None None None None None None
View hp37_1_filt_10x 8 rs778943478,rs57083604
dbSNP
8560618 1190.73 G GC... PASS 0/1 30 CODON_INSERTION MODERATE 0.00751 None None None None None None None

CLU

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs7982
dbSNP
27462481 350.78 A G PASS 1/1 15 SYNONYMOUS_CODING LOW SILENT 0.66454 0.66450 0.40212 None None None None None None None

CNBD1

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs9694259
dbSNP
88622043 210.77 T G PASS 0/1 27 None None None 0.79713 0.79710 0.00 0.00 None None None None None None None

CNGB3

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs3735972
dbSNP
87588198 164.77 T C PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08227 0.08227 0.08096 0.21 0.05 None None None None None None None
View hp37_1_filt_10x 8 rs6471482
dbSNP
87679303 355.78 A C PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.95747 0.95750 0.12141 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 8 rs4961206
dbSNP
87666251 1038.77 T G PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67971 0.67970 0.35941 0.30 0.01 None None None None None None None

CNOT7

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs2959606
dbSNP
17092164 3021.77 G T PASS 1/1 120 None None None 0.96006 0.96010 None None None None None None None

COL14A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs2305598
dbSNP
121210069 1051.77 T C PASS 1/1 46 SYNONYMOUS_CODING LOW SILENT 0.63439 0.63440 0.42465 None None None None None None None
View hp37_1_filt_10x 8 rs2305600
dbSNP
121215991 391.77 T C PASS 1/1 14 SYNONYMOUS_CODING LOW SILENT 0.63838 0.63840 0.43165 None None None None None None None
View hp37_1_filt_10x 8 rs4870723
dbSNP
121228679 2063.77 A C PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59006 0.59010 0.48401 0.01 0.45 None None None None None None None
View hp37_1_filt_10x 8 rs2305603
dbSNP
121256150 215.77 T C PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.18670 0.18670 0.06851 None None None None None None None
View hp37_1_filt_10x 8 rs2305605
dbSNP
121259862 336.77 G A PASS 0/1 29 SYNONYMOUS_CODING LOW SILENT 0.17113 0.17110 0.04721 None None None None None None None
View hp37_1_filt_10x 8 rs4463470
dbSNP
121383048 409.77 T C PASS 0/1 33 None None None 0.82668 0.82670 0.01 0.00 None None None None None None None

COL22A1

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs10091563
dbSNP
139647262 437.77 A G PASS 1/1 19 SYNONYMOUS_CODING LOW SILENT 0.70986 0.70990 0.26534 None None None None None None None
View hp37_1_filt_10x 8 rs2292927
dbSNP
139838912 49.77 T C PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83147 0.83150 0.17069 0.00 None None None None None None None
View hp37_1_filt_10x 8 rs9644500
dbSNP
139697478 814.77 T C PASS 1/1 36 SYNONYMOUS_CODING LOW SILENT 0.57867 0.57870 0.45648 None None None None None None None

CPA6

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs10957393
dbSNP
68536470 165.77 A G PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23223 0.23220 0.26404 0.30 0.00 None None None None None None None

CPQ

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 8 rs1864384
dbSNP
97847358 171.77 G T PASS 0/1 15 SYNONYMOUS_CODING LOW SILENT 0.60923 0.60920 0.43618 None None None None None None None

CPSF1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs4317614
dbSNP
145623963 617.77 G A PASS 0/1 64 SYNONYMOUS_CODING LOW SILENT 0.45907 0.45910 0.32616 None None None None None None None

CSGALNACT1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs12155539
dbSNP
19316086 579.77 G A PASS 0/1 67 SYNONYMOUS_CODING LOW SILENT 0.00140 0.45890 0.31378 None None None None None None None
View hp37_1_filt_10x 8 rs7017776
dbSNP
19362768 431.77 C T PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75479 0.75480 0.25780 0.91 0.01 None None None None None None None

CSMD1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs667595
dbSNP
2832139 383.77 C G PASS 1/1 18 SYNONYMOUS_CODING LOW SILENT 0.75100 0.75100 0.20028 None None None None None None None
View hp37_1_filt_10x 8 rs56109797
dbSNP
3351195 156.77 C A PASS 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.09245 0.09245 0.06937 None None None None None None None
View hp37_1_filt_10x 8 rs3802303
dbSNP
3253768 67.77 C T PASS 0/1 12 SYNONYMOUS_CODING LOW SILENT 0.29972 0.29970 0.38278 None None None None None None None
View hp37_1_filt_10x 8 rs17066296
dbSNP
3351147 152.77 G A PASS 0/1 15 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.11142 0.11140 0.06649 None None None None None None None
View hp37_1_filt_10x 8 rs667859
dbSNP
2820745 158.77 G C PASS 0/1 35 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.43470 0.43470 0.36771 None None None None None None None
View hp37_1_filt_10x 8 rs6558703
dbSNP
2910020 441.77 A G PASS 1/1 18 SYNONYMOUS_CODING LOW SILENT 0.98263 0.98260 0.01646 None None None None None None None
View hp37_1_filt_10x 8 rs3824271
dbSNP
2965244 338.78 T C PASS 1/1 14 SYNONYMOUS_CODING LOW SILENT 0.83966 0.83970 0.21177 None None None None None None None
View hp37_1_filt_10x 8 rs34337712
dbSNP
2808730 50.77 T A PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02137 0.02137 0.05644 0.01 None None None None None None None
View hp37_1_filt_10x 8 rs6558702
dbSNP
2909992 62.77 G A PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69289 0.69290 0.26894 0.00 None None None None None None None
View hp37_1_filt_10x 8 rs10088378
dbSNP
3265590 1454.77 C T PASS 1/1 56 SYNONYMOUS_CODING LOW SILENT 0.60304 0.60300 0.32955 None None None None None None None

CSMD3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs146167541
dbSNP
113702191 290.77 C T PASS 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.00120 0.00120 0.00500 None None None None None None None
View hp37_1_filt_10x 8 rs11778209
dbSNP
113364696 42.77 A G PASS 0/1 12 SYNONYMOUS_CODING LOW SILENT 0.25020 0.25020 0.17602 None None None None None None None

CTHRC1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs6995597
dbSNP
104384780 666.77 A G PASS 0/1 56 None None None 0.09125 0.09125 0.06959 0.10 0.00 None None None None None None None
View hp37_1_filt_10x 8 rs3098233
dbSNP
104394744 572.77 T C PASS 0/1 75 SYNONYMOUS_CODING LOW SILENT 0.74461 0.74460 0.21698 None None None None None None None

CTSB

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 8 rs12338
dbSNP
11710888 394.77 G C PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39597 0.39600 0.36237 0.00 0.06 None None None None None None None