+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 326

Genes:
AARD, ABRA, AC023632.1, ADAM18, ADAM28, ADAM32, ADAM7, ADAMDEC1, ADCK5, ADCY8, AGO2, ANGPT2, ANK1, ANXA13, ARC, ARFGEF1, ARHGAP39, ARHGEF10, ARMC1, ASAH1, ASAP1, ASH2L, AZIN1, BAI1, BIN3, BLK, BMP1, C8orf31, C8orf4, C8orf48, C8orf49, C8orf59, C8orf74, C8orf82, C8orf87, C8orf88, CA13, CA2, CA3, CCAR2, CDCA2, CDH17, CHMP7, CHRNA2, CLDN23, CLU, CNBD1, CNOT7, COL14A1, COL22A1, COMMD5, CPA6, CPQ, CPSF1, CSGALNACT1, CSMD1, CSMD3, CTHRC1, CTSB, CYC1, CYHR1, CYP11B1, CYP11B2, DDHD2, DEFA4, DEFA5, DEFB104A, DEFB4A, DEFB4B, DENND3, DEPTOR, DLC1, DLGAP2, DOCK5, DPYS, DPYSL2, DSCC1, DUSP4, E2F5, EEF1D, EFR3A, ENPP2, EPPK1, ERI1, ERICH1, ESRP1, EXT1, EYA1, FAM135B, FAM160B2, FAM167A, FAM83H, FAM86B1, FAM86B2, FAM91A1, FAM92A1, FBXO16, FBXO43, FDFT1, FER1L6, FGF20, FGL1, FUT10, FZD3, FZD6, GDAP1, GFRA2, GLI4, GPAA1, GPIHBP1, GPR124, GPR20, GPT, GRINA, GSDMC, HAS2, HGSNAT, HHLA1, HNF4G, HR, HTRA4, IDO2, IMPA1, INTS10, INTS8, KB-1507C5.2, KCNQ3, KCNU1, KIAA1429, KIAA1456, KIAA1875, KIF13B, KIFC2, KLF10, KLHL38, LETM2, LONRF1, LOXL2, LRRC14, LRRC24, LRRC6, LRRC69, LRRCC1, LY6H, LY6K, LY96, LYNX1, LYPD2, MAF1, MAFA, MAK16, MAL2, MAPK15, MATN2, MBOAT4, MCM4, MCPH1, MFHAS1, MICU3, MROH1, MROH5, MROH6, MRPS28, MSR1, MTBP, MTMR7, MTUS1, MYOM2, NAPRT1, NAT2, NDRG1, NDUFB9, NEFM, NEIL2, NIPAL2, NKAIN3, NOV, NRBP2, NRG1, NSMAF, NUDT18, NUGGC, OC90, ODF1, OPLAH, OTUD6B, PABPC1, PARP10, PBK, PCM1, PCMTD1, PDGFRL, PEBP4, PEX2, PHF20L1, PHYHIP, PINX1, PKHD1L1, PLAG1, PLEC, PLEKHA2, PMP2, POU5F1B, PRDM14, PREX2, PRKDC, PRSS55, PSCA, PSD3, PTK2B, PXDNL, PYCRL, R3HCC1, RAB11FIP1, RAB2A, RAD21, RAD54B, RB1CC1, RBM12B, RECQL4, REXO1L1P, RHOBTB2, RMDN1, RNF122, RNF139, RP1, RP11-10J21.3, RP11-297N6.4, RP11-382J12.1, RP11-386G21.2, RP11-422N16.3, RP11-481A20.11, RP11-758M4.1, RP1L1, RPS20, SAMD12, SBSPON, SCARA5, SCRIB, SCRT1, SDC2, SFRP1, SFTPC, SGK223, SH2D4A, SHARPIN, SLC10A5, SLC18A1, SLC25A37, SLC30A8, SLC35G5, SLC39A14, SLC39A4, SLC45A4, SLC7A2, SLCO5A1, SNTG1, SNX16, SORBS3, SOX17, SOX7, SPAG1, SPAG11A, SPAG11B, SPATC1, ST3GAL1, STAR, STAU2, STMN4, TACC1, TAF2, TDRP, TEX15, TG, TGS1, THEM6, TIGD5, TMEM249, TMEM55A, TMEM66, TMEM71, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TNFRSF11B, TNKS, TONSL, TOP1MT, TOX, TP53INP1, TPD52, TRAPPC9, TRIB1, TRMT12, TRPA1, TSNARE1, TSPYL5, TSTA3, TTI2, UQCRB, USP17L2, UTP23, VPS13B, WRN, WWP1, XKR4, XKR9, XPO7, ZC2HC1A, ZC3H3, ZFAT, ZFHX4, ZFPM2, ZHX2, ZNF16, ZNF250, ZNF395, ZNF517, ZNF623, ZNF696, ZNF7, ZNF705B, ZNF705D, ZNF705G, ZNF707,

+ Genes associated with diseases 75

Genes at Omim

ANK1, ARHGEF10, ASAH1, BLK, BMP1, CA2, CHRNA2, CPA6, CTHRC1, CTSB, CYC1, CYP11B1, CYP11B2, DDHD2, DLC1, DPYS, ESRP1, EXT1, EYA1, FAM83H, FDFT1, FGF20, FZD6, GDAP1, GPAA1, GPIHBP1, HGSNAT, HR, IMPA1, KCNQ3, LRRC6, MAFA, MCM4, MCPH1, MFHAS1, MSR1, NAT2, NDRG1, NDUFB9, NRG1, OPLAH, OTUD6B, PDGFRL, PEX2, PLAG1, PMP2, PRKDC, RAD21, RAD54B, RB1CC1, RECQL4, RHOBTB2, RNF139, RP1, RP1L1, SAMD12, SFTPC, SLC30A8, SLC39A14, SLC39A4, SOX17, SPAG1, STAR, TAF2, TEX15, TG, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TTI2, UQCRB, VPS13B, ZFHX4, ZFPM2,
ANK1 Spherocytosis, type 1, 182900 (3)
ARHGEF10 ?Slowed nerve conduction velocity, AD, 608236 (3)
ASAH1 Farber lipogranulomatosis, 228000 (3)
Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
BLK Maturity-onset diabetes of the young, type 11, 613375 (3)
BMP1 Osteogenesis imperfecta, type XIII, 614856 (3)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4, 610353 (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)
DDHD2 Spastic paraplegia 54, autosomal recessive, 615033 (3)
DLC1 Colorectal cancer, somatic, 114500 (3)
DPYS Dihydropyrimidinuria, 222748 (3)
ESRP1 ?Deafness, autosomal recessive 109, 618013 (3)
EXT1 Chondrosarcoma, 215300 (3)
Exostoses, multiple, type 1, 133700 (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)
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)
GPAA1 Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (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)
IMPA1 Mental retardation, autosomal recessive 59, 617323 (3)
KCNQ3 Seizures, benign neonatal, 2, 121201 (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)
NDRG1 Charcot-Marie-Tooth disease, type 4D, 601455 (3)
NDUFB9 ?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)
NRG1 {?Schizophrenia, susceptibility to}, 603013 (1)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
OTUD6B Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3)
PDGFRL Hepatocellular cancer, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
PEX2 Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3)
Peroxisome biogenesis disorder 5B, 614867 (3)
PLAG1 Adenomas, salivary gland pleomorphic, somatic, 181030 (3)
PMP2 Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RAD21 Cornelia de Lange syndrome 4, 614701 (3)
?Mungan syndrome, 611376 (3)
RAD54B Colon cancer, somatic, 114500 (3)
Lymphoma, non-Hodgkin, somatic, 605027 (3)
RB1CC1 Breast cancer, somatic, 114480 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RHOBTB2 Epileptic encephalopathy, early infantile, 64, 618004 (3)
RNF139 Renal cell carcinoma, 144700 (3)
RP1 Retinitis pigmentosa 1, 180100 (3)
RP1L1 Occult macular dystrophy, 613587 (3)
SAMD12 Epilepsy, familial adult myoclonic, 1, 601068 (3)
SFTPC Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)
SLC30A8 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
SLC39A14 Hypermanganesemia with dystonia 2, 617013 (3)
?Hyperostosis cranalis interna, 144755 (3)
SLC39A4 Acrodermatitis enteropathica, 201100 (3)
SOX17 Vesicoureteral reflux 3, 613674 (3)
SPAG1 Ciliary dyskinesia, primary, 28, 615505 (3)
STAR Lipoid adrenal hyperplasia, 201710 (3)
TAF2 Mental retardation, autosomal recessive 40, 615599 (3)
TEX15 Spermatogenic failure 25, 617960 (3)
TG Thyroid dyshormonogenesis 3, 274700 (3)
{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
TNFRSF10B Squamous cell carcinoma, head and neck, 275355 (3)
TNFRSF11B Paget disease of bone 5, juvenile-onset, 239000 (3)
TRAPPC9 Mental retardation, autosomal recessive 13, 613192 (3)
TRPA1 ?Episodic pain syndrome, familial, 1, 615040 (3)
TTI2 Mental retardation, autosomal recessive 39, 615541 (3)
UQCRB Mitochondrial complex III deficiency, nuclear type 3, 615158 (3)
VPS13B Cohen syndrome, 216550 (3)
ZFHX4 ?Ptosis, congenital, 178300 (2)
ZFPM2 Diaphragmatic hernia 3, 610187 (3)
46XY sex reversal 9, 616067 (3)
Tetralogy of Fallot, 187500 (3)

Genes at Clinical Genomics Database

ANK1, ARHGEF10, ASAH1, BLK, BMP1, CA2, CHRNA2, CPA6, CTHRC1, CYC1, CYP11B1, CYP11B2, DDHD2, DPYS, EXT1, EYA1, FAM83H, FGF20, FZD6, GDAP1, GPIHBP1, HGSNAT, HR, KCNQ3, LRRC6, MCM4, MCPH1, MSR1, NAT2, NDRG1, OPLAH, PEX2, PLEC, PRKDC, RAD21, RB1CC1, RECQL4, RNF139, RP1, RP1L1, SFTPC, SLC39A4, SOX17, STAR, TAF2, TG, TNFRSF10B, TNFRSF11B, TRAPPC9, TRPA1, TTI2, UQCRB, VPS13B, WRN, ZFPM2,
ANK1 Spherocytosis, hereditary 1
ARHGEF10 Slowed nerve conduction velocity, autosomal dominant (Hereditary motor and sensory neuropathy)
ASAH1 Farber lipogranulomatosis
Spinal muscular atrophy with progressive myoclonic epilepsy
BLK Maturity-onset diabetes of the young, type 11
BMP1 Osteogenesis imperfecta, type XIII
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4
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
DDHD2 Spastic paraplegia 54
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
GDAP1 Charcot-Marie-Tooth disease, recessive intermediate, A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
Charcot-Marie-Tooth disease, axonal, type 2K
Charcot-Marie-Tooth disease, type 4A
GPIHBP1 Hyperlipoproteinemia, type ID
HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C)
Retinitis pigmentosa 73
HR Hypotrichosis 4
Atrichia with papular lesions
Alopecia universalis congenita
KCNQ3 Seizures, benign neonatal, 2
LRRC6 Ciliary dyskinesia, primary 19
MCM4 Natural killer cell and glucocorticoid deficiency with DNA repair defect
MCPH1 Microcephaly, primary autosomal recessive, 1
MSR1 Barrett esophagus/esophageal adenocarcinoma
Prostate cancer
NAT2 Acetylation, NAT2-related
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
RNF139 Renal cell carcinoma, clear cell
RP1 Retinitis pigmentosa 1, autosomal dominant
Retinitis pigmentosa 1, autosomal recessive
RP1L1 Occult macular dystrophy
Retinitis pigmentosa, autosomal recessive
SFTPC Surfactant metabolism dysfunction, pulmonary, 2
SLC39A4 Acrodermatitis enteropathica
SOX17 Vesicoureteral reflux 3
STAR Lipoid adrenal hyperplasia
TAF2 Mental retardation, autosomal recessive 40
TG Thyroid dyshormonogenesis 3
TNFRSF10B Squamous cell carcinoma, head and neck
TNFRSF11B Paget disease of bone 5, juvenile
TRAPPC9 Mental retardation, autosomal recessive 13
TRPA1 Episodic pain syndrome, familial
TTI2 Mental retardation, autosomal recessive 39
UQCRB Mitochondrial complex III deficiency
VPS13B Cohen syndrome
WRN Werner syndrome
ZFPM2 46,XY sex reversal 9

Genes at HGMD

Summary

Number of Variants: 5678
Number of Genes: 326

Export to: CSV

AARD
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 combined sample_63.variant25 8 rs111477672
dbSNP Clinvar 		117950758 1254.51 G T PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.01498 0.01498 0.17 0.07 None None None None None None AARD|0.002413516|89.86%

ABRA
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 combined sample_63.variant25 8 rs11996466
dbSNP Clinvar 		107782395 1104.97 G A PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.44090 0.44090 0.40969 None None None None None None ABRA|0.085117815|54.14%
View combined sample_63.variant25 8 rs13259080
dbSNP Clinvar 		107782065 2453.41 A G PASS 0/1 239 SYNONYMOUS_CODING LOW None 0.18570 0.18570 0.12679 None None None None None None ABRA|0.085117815|54.14%

AC023632.1
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 combined sample_63.variant25 8 rs3133651
dbSNP Clinvar 		95559092 1278.34 T C PASS 1/1 106 SYNONYMOUS_CODING LOW None 0.68171 0.68170 None None None None None None KIAA1429|0.455751702|17.88%

ADAM18
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 combined sample_63.variant25 8 rs12708194
dbSNP Clinvar 		39496029 696.06 T C PASS 0/1 81 SYNONYMOUS_CODING LOW None 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs7814768
dbSNP Clinvar 		24211331 3437.7 G A PASS 1/1 126 NON_SYNONYMOUS_CODING MODERATE None 0.96705 0.96710 0.02169 1.00 0.00 None None None None None None ADAM28|0.028862647|69.97%
View combined sample_63.variant25 8 rs7009516
dbSNP Clinvar 		24208847 1826.99 G A PASS 0/1 120 None None None 0.56370 0.56370 0.46356 None None None None None None ADAM28|0.028862647|69.97%

ADAM32
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs4517088
dbSNP Clinvar 		38964647 617.04 G A PASS 0/1 18 None None None 0.44549 0.44550 0.01 0.00 None None None None None None ADAM32|0.008880265|81.76%
View combined sample_63.variant25 8 rs7845771
dbSNP Clinvar 		39080632 2879.4 C G PASS 1/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.95827 0.95830 0.03848 1.00 0.00 None None None None None None ADAM32|0.008880265|81.76%
View combined sample_63.variant25 8 rs59118660
dbSNP Clinvar 		38965271 5879.16 C T PASS 0/1 243 START_GAINED LOW None 0.43790 0.43790 0.33230 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 combined sample_63.variant25 8 rs12547971
dbSNP Clinvar 		24350715 984.32 G A PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.05391 0.05391 0.07067 None None None None None None ADAM7|0.013206563|78.36%
View combined sample_63.variant25 8 rs13259668
dbSNP Clinvar 		24356818 3545.73 A C PASS 0/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.32628 0.32630 0.33046 0.08 0.00 None None None None None None ADAM7|0.013206563|78.36%
View combined sample_63.variant25 8 rs13277171
dbSNP Clinvar 		24359068 2453.82 G A PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.26478 0.26480 0.26265 None None None None None None ADAM7|0.013206563|78.36%
View combined sample_63.variant25 8 rs13255694
dbSNP Clinvar 		24339679 1451.18 G A PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.26138 0.26140 0.26096 0.00 1.00 None None None None None None ADAM7|0.013206563|78.36%

ADAMDEC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs3765124
dbSNP Clinvar 		24261526 4970.11 A G PASS 0/1 213 NON_SYNONYMOUS_CODING MODERATE None 0.29493 0.29490 0.34453 0.09 0.10 None None None None None None ADAMDEC1|0.01425096|77.67%
View combined sample_63.variant25 8 rs2291577
dbSNP Clinvar 		24256470 3787.82 C T PASS 0/1 178 SYNONYMOUS_CODING LOW None 0.29293 0.29290 0.34269 None None None None None None ADAMDEC1|0.01425096|77.67%

ADCK5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs6599528
dbSNP Clinvar 		145603114 1277.38 A C PASS 1/1 161 NON_SYNONYMOUS_CODING MODERATE None 0.63239 0.63240 0.45824 0.82 0.00 None None None None None None ADCK5|0.009712798|81.05%
View combined sample_63.variant25 8 rs148509143,rs563415390
dbSNP Clinvar 		145617534 564.52 TG... T PASS 1/1 55 None None None 0.62700 0.62700 0.42097 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 combined sample_63.variant25 8 rs12547243
dbSNP Clinvar 		131921956 4817.36 A G PASS 1/1 142 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.54473 0.54470 0.42642 None None None None None None ADCY8|0.569570608|13.01%

AGO2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs2293939
dbSNP Clinvar 		141551407 1374.78 G A PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.22744 0.22740 0.20906 None None None None None None AGO2|0.736134544|7.47%

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 combined sample_63.variant25 8 rs6559167
dbSNP Clinvar 		6389889 4149.6 C G,A PASS 0/2 150 SYNONYMOUS_CODING LOW None 0.28974 0.28970 0.42734 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 combined sample_63.variant25 8 rs1137177
dbSNP Clinvar 		41563685 968.05 G A PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.18091 0.18090 0.19637 None None None None None None ANK1|0.956309863|2.07%
View combined sample_63.variant25 8 rs2304871
dbSNP Clinvar 		41585438 1363.16 G A PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.22844 0.22840 0.24965 None None None None None None ANK1|0.956309863|2.07%
View combined sample_63.variant25 8 rs504574
dbSNP Clinvar 		41553928 4724.73 C G PASS 0/1 178 SYNONYMOUS_CODING LOW None 0.40715 0.40710 0.36285 None None None None None None ANK1|0.956309863|2.07%
View combined sample_63.variant25 8 rs2304880
dbSNP Clinvar 		41559609 2516.14 G A PASS 0/1 159 SYNONYMOUS_CODING LOW None 0.18071 0.18070 0.19622 None None None None None None ANK1|0.956309863|2.07%

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 combined sample_63.variant25 8 rs2294015
dbSNP Clinvar 		124696867 1704.6 C T PASS 0/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.69609 0.69610 0.31785 1.00 0.00 None None None None None None ANXA13|0.222416197|34.14%
View combined sample_63.variant25 8 rs2294013
dbSNP Clinvar 		124710729 2439.52 C T PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.23403 0.23400 0.29479 0.12 0.01 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 combined sample_63.variant25 8 rs28686812
dbSNP Clinvar 		143694775 2170.64 G C PASS 0/1 263 SYNONYMOUS_CODING LOW None 0.50060 0.50060 0.49477 None None None None None None ARC|0.130590354|45.8%
View combined sample_63.variant25 8 rs2234911
dbSNP Clinvar 		143695144 3024.3 G A PASS 0/1 224 SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.47025 None None None None None None ARC|0.130590354|45.8%

ARFGEF1
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 combined sample_63.variant25 8 rs61753693
dbSNP Clinvar 		68115346 1316.89 G A PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.00659 0.00659 0.01000 None None None None None None ARFGEF1|0.649800549|10.12%

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 combined sample_63.variant25 8 rs873884
dbSNP Clinvar 		145756170 1787.35 G A PASS 0/1 186 SYNONYMOUS_CODING LOW None 0.38698 0.38700 0.49083 None None None None None None ARHGAP39|0.083072421|54.56%

ARHGEF10
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 combined sample_63.variant25 8 rs3735876
dbSNP Clinvar 		1905132 886.65 G A PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.36801 0.36800 0.34561 None None None None None None ARHGEF10|0.010635325|80.42%
View combined sample_63.variant25 8 rs749822
dbSNP Clinvar 		1808256 515.89 A G PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.05711 0.05711 0.05859 None None None None None None ARHGEF10|0.010635325|80.42%
View combined sample_63.variant25 8 rs7003969
dbSNP Clinvar 		1817367 995.29 G A PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.23582 0.23580 0.19545 None None None None None None ARHGEF10|0.010635325|80.42%
View combined sample_63.variant25 8 rs2272613
dbSNP Clinvar 		1873540 1014.6 C T PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.10643 0.10640 0.04529 None None None None None None ARHGEF10|0.010635325|80.42%

ARMC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs11559265
dbSNP Clinvar 		66525548 938.85 T C PASS 0/1 70 SYNONYMOUS_CODING LOW None 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 combined sample_63.variant25 8 rs10103355
dbSNP Clinvar 		17918934 1979.34 A G PASS 1/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.85024 0.85020 0.13340 0.92 0.00 None None None None None None ASAH1|0.03988949|65.81%

ASAP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs966185
dbSNP Clinvar 		131124559 2970.53 T C PASS 1/1 136 NON_SYNONYMOUS_CODING MODERATE None 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 combined sample_63.variant25 8 rs2843740
dbSNP Clinvar 		37985897 4147.25 A G PASS 1/1 172 SYNONYMOUS_CODING LOW None 0.84804 0.84800 0.08396 None None None None None None ASH2L|0.428566452|19.21%

AZIN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs1062048
dbSNP Clinvar 		103851052 1475.32 T C PASS 1/1 151 SYNONYMOUS_CODING LOW None 0.19988 0.19990 0.20421 None None None None None None AZIN1|0.715198945|8.12%

BAI1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs61755064
dbSNP Clinvar 		143623372 1766.89 C A PASS 0/1 206 SYNONYMOUS_CODING LOW None 0.07208 0.07208 0.03527 None None None None None None ADGRB1|0.079978463|55.17%
View combined sample_63.variant25 8 rs7460600
dbSNP Clinvar 		143603418 1209.96 G C PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.90375 0.90380 0.09007 None None None None None None ADGRB1|0.079978463|55.17%

BIN3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs1871900
dbSNP Clinvar 		22481449 452.92 A G PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.49720 0.49720 0.45654 None None None None None None BIN3|0.312765796|26.64%
View combined sample_63.variant25 8 rs11550509
dbSNP Clinvar 		22526559 1627.74 G A PASS 0/1 155 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09884 0.09884 0.18878 None None None None None None BIN3|0.312765796|26.64%
View combined sample_63.variant25 8 rs900268
dbSNP Clinvar 		22482851 2784.01 A C PASS 0/1 72 None None None 0.99121 0.99120 0.00 0.89 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 combined sample_63.variant25 8 rs3816668
dbSNP Clinvar 		11406593 2897.58 T C PASS 0/1 171 SYNONYMOUS_CODING LOW None 0.41693 0.41690 0.49031 None None None None None None BLK|0.095762795|51.98%
View combined sample_63.variant25 8 rs2306234
dbSNP Clinvar 		11414237 3863.03 T C PASS 1/1 187 SYNONYMOUS_CODING LOW None 0.82768 0.82770 0.18753 None None None None None None BLK|0.095762795|51.98%

BMP1
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 combined sample_63.variant25 8 rs77242743
dbSNP Clinvar 		22067022 2419.42 C A PASS 0/1 177 SYNONYMOUS_CODING LOW None 0.03514 0.03514 0.08465 None None None None None None BMP1|0.631090407|10.73%

C8orf31
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs11136300
dbSNP Clinvar 		144124609 7874.39 T C PASS 1/1 214 NON_SYNONYMOUS_CODING MODERATE None 0.70527 0.70530 0.33292 0.06 0.00 None None None None None None C8orf31|0.000375865|99.11%

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 combined sample_63.variant25 8 rs6474226
dbSNP Clinvar 		40011079 3868.13 G A PASS 1/1 183 NON_SYNONYMOUS_CODING MODERATE None 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 combined sample_63.variant25 8 rs13273355
dbSNP Clinvar 		13424583 4935.76 C T PASS 0/1 214 NON_SYNONYMOUS_CODING MODERATE None 0.81210 0.81210 0.20894 1.00 0.00 None None None None None None C8orf48|0.002033946|90.89%
View combined sample_63.variant25 8 rs11203497
dbSNP Clinvar 		13425353 5220.4 T A PASS 1/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.98502 0.98500 0.01533 1.00 0.00 None None None None None None C8orf48|0.002033946|90.89%

C8orf49
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 combined sample_63.variant25 8 rs36018280
dbSNP Clinvar 		11619397 2730.56 G A PASS 0/1 282 NON_SYNONYMOUS_CODING MODERATE None 0.11741 0.11740 0.60 0.01 None None None None None None C8orf49|0.001687308|91.93%
View combined sample_63.variant25 8 rs809203
dbSNP Clinvar 		11619504 6038.64 T A PASS 0/1 238 STOP_GAINED HIGH None 0.25140 0.25140 None None None None None None C8orf49|0.001687308|91.93%
View combined sample_63.variant25 8 rs804285
dbSNP Clinvar 		11618998 238.54 G C PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.97344 0.97340 1.00 0.00 None None None None None None C8orf49|0.001687308|91.93%
View combined sample_63.variant25 8 rs811966
dbSNP Clinvar 		11619334 7251.59 C T PASS 0/1 229 SYNONYMOUS_CODING LOW None 0.69828 0.69830 None None None None None None C8orf49|0.001687308|91.93%
View combined sample_63.variant25 8 rs2740431
dbSNP Clinvar 		11619261 6097.34 T A PASS 1/1 218 SYNONYMOUS_CODING LOW None 0.94329 0.94330 None None None None None None C8orf49|0.001687308|91.93%
View combined sample_63.variant25 8 rs809204
dbSNP Clinvar 		11619163 3701.98 A G PASS 0/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.25160 0.25160 0.00 0.27 None None None None None None C8orf49|0.001687308|91.93%

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 combined sample_63.variant25 8 rs112611553
dbSNP Clinvar 		86126827 3436.37 C CA... PASS 1/1 88 CODON_INSERTION MODERATE None 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 combined sample_63.variant25 8 . 10557888 75.97 T C PASS 0/1 44 SYNONYMOUS_CODING LOW None None None None None None None RP1L1|0.000840698|96.44%,C8orf74|0.022006749|73.16%
View combined sample_63.variant25 8 rs11250058
dbSNP Clinvar 		10530218 5279.49 C T PASS 1/1 242 NON_SYNONYMOUS_CODING MODERATE None 0.99241 0.99240 0.00008 0.33 0.02 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 combined sample_63.variant25 8 rs11557085
dbSNP Clinvar 		145752900 2736.74 C T PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.39417 0.39420 None None None None None None C8orf82|0.009303358|81.44%

C8orf87
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 combined sample_63.variant25 8 rs13267247
dbSNP Clinvar 		94146656 808.74 G T PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.23163 0.23160 0.00 0.77 None None None None None None C8orf87|0.001906946|91.22%

C8orf88
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 combined sample_63.variant25 8 rs768667651
dbSNP Clinvar 		91992645 2102.16 T C PASS 0/1 173 NON_SYNONYMOUS_CODING MODERATE None 0.30 0.28 None None None None None None None

CA13
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 combined sample_63.variant25 8 rs75353219
dbSNP Clinvar 		86180719 1349.66 A G PASS 0/1 110 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00479 0.00479 0.01076 0.23 0.36 None None None None None None CA13|0.117849983|47.79%

CA2
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 combined sample_63.variant25 8 rs703
dbSNP Clinvar 		86389403 1899.27 T C PASS 0/1 198 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.57768 0.57770 0.35691 None None None None None None CA2|0.889108016|3.7%

CA3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs20571
dbSNP Clinvar 		86351997 1918.53 G A PASS 0/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.43950 0.43950 0.48578 1.00 0.00 None None None None None None CA3|0.309141355|26.9%

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 combined sample_63.variant25 8 rs3736147
dbSNP Clinvar 		22471824 1973.54 G A PASS 0/1 250 SYNONYMOUS_CODING LOW None 0.26937 0.26940 0.26273 None None None None None None CCAR2|0.363674682|23.18%
View combined sample_63.variant25 8 rs7843828
dbSNP Clinvar 		22463623 793.2 C T PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.30351 0.30350 0.31170 None None None None None None CCAR2|0.363674682|23.18%
View combined sample_63.variant25 8 . 22475886 1239.76 G C PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.15 0.99 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 combined sample_63.variant25 8 rs4872318
dbSNP Clinvar 		25364331 2991.8 G A PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.22644 0.22640 0.25750 0.01 0.64 None None None None None None CDCA2|0.009449627|81.34%
View combined sample_63.variant25 8 rs10108752
dbSNP Clinvar 		25323777 1956.29 T C PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.95547 0.95550 0.04598 None None None None None None CDCA2|0.009449627|81.34%

CDH17
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs1051623
dbSNP Clinvar 		95143186 2771.45 C G PASS 1/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.78395 0.78390 0.16639 0.34 0.00 None None None None None None CDH17|0.034427264|67.65%
View combined sample_63.variant25 8 rs1051624
dbSNP Clinvar 		95143172 2811.04 T G PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.44269 0.44270 0.47363 0.22 0.00 None None None None None None CDH17|0.034427264|67.65%
View combined sample_63.variant25 8 rs1131830
dbSNP Clinvar 		95158382 679.13 C T PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.43151 0.43150 0.45541 None None None None None None CDH17|0.034427264|67.65%
View combined sample_63.variant25 8 rs2251734
dbSNP Clinvar 		95158259 1173.86 G A PASS 0/1 187 SYNONYMOUS_CODING LOW None 0.31210 0.31210 0.32731 None None None None None None CDH17|0.034427264|67.65%
View combined sample_63.variant25 8 rs2513797
dbSNP Clinvar 		95143138 1103.4 A G PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.08367 0.08367 0.11848 None None None None None None CDH17|0.034427264|67.65%

CHMP7
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 combined sample_63.variant25 8 rs528210316
dbSNP Clinvar 		23105548 490.3 C T PASS 0/1 32 None None None None None None None None None CHMP7|0.365942671|23%

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 combined sample_63.variant25 8 rs891398
dbSNP Clinvar 		27324822 2106.45 T C PASS 0/1 141 NON_SYNONYMOUS_CODING MODERATE None 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 combined sample_63.variant25 8 rs2280560
dbSNP Clinvar 		8560602 7001.95 C T PASS 1/1 302 NON_SYNONYMOUS_CODING MODERATE None 0.29553 0.29550 0.19371 0.59 0.04 None None None None None None CLDN23|0.024207428|72.13%

CLU
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs7982
dbSNP Clinvar 		27462481 1544.5 A G PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.66454 0.66450 0.40212 None None None None None None CLU|0.219123407|34.47%

CNBD1
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 combined sample_63.variant25 8 rs9694259
dbSNP Clinvar 		88622043 1458.21 T G PASS 1/1 82 None None None 0.79713 0.79710 0.00 0.00 None None None None None None CNBD1|0.010944724|80.12%

CNOT7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs2959606
dbSNP Clinvar 		17092164 7330.04 G T PASS 1/1 269 None None None 0.96006 0.96010 None None None None None None CNOT7|0.468115018|17.27%

COL14A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs4870723
dbSNP Clinvar 		121228679 1380.29 A C PASS 1/1 240 NON_SYNONYMOUS_CODING MODERATE None 0.59006 0.59010 0.48401 0.01 0.45 None None None None None None COL14A1|0.765229358|6.75%
View combined sample_63.variant25 8 rs4463470
dbSNP Clinvar 		121383048 1952.54 T C PASS 1/1 61 None None None 0.82668 0.82670 0.01 0.00 None None None None None None COL14A1|0.765229358|6.75%
View combined sample_63.variant25 8 rs2305598
dbSNP Clinvar 		121210069 1484.55 T C PASS 1/1 159 SYNONYMOUS_CODING LOW None 0.63439 0.63440 0.42465 None None None None None None COL14A1|0.765229358|6.75%
View combined sample_63.variant25 8 rs2305600
dbSNP Clinvar 		121215991 952.56 T C PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.63838 0.63840 0.43165 None None None None None None COL14A1|0.765229358|6.75%

COL22A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs4909444
dbSNP Clinvar 		139701209 1890.97 G T PASS 0/1 190 NON_SYNONYMOUS_CODING MODERATE None 0.29173 0.29170 0.31447 0.00 None None None None None None COL22A1|0.06710202|58.12%
View combined sample_63.variant25 8 rs10091563
dbSNP Clinvar 		139647262 746.14 A G PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.26534 None None None None None None COL22A1|0.06710202|58.12%
View combined sample_63.variant25 8 rs9644500
dbSNP Clinvar 		139697478 2206.99 T C PASS 0/1 158 SYNONYMOUS_CODING LOW None 0.57867 0.57870 0.45648 None None None None None None COL22A1|0.06710202|58.12%
View combined sample_63.variant25 8 rs2292927
dbSNP Clinvar 		139838912 3181.62 T C PASS 0/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.83147 0.83150 0.17069 0.00 None None None None None None COL22A1|0.06710202|58.12%
View combined sample_63.variant25 8 rs10101430
dbSNP Clinvar 		139824057 629.73 G A PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.48063 0.48060 0.49646 None None None None None None COL22A1|0.06710202|58.12%
View combined sample_63.variant25 8 rs267601792
dbSNP Clinvar 		139767737 2413.21 C T PASS 0/1 188 SYNONYMOUS_CODING LOW None 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 combined sample_63.variant25 8 rs1209879
dbSNP Clinvar 		146076708 793.81 C T PASS 1/1 157 NON_SYNONYMOUS_CODING MODERATE None 0.26837 0.26840 0.27472 0.23 0.00 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 combined sample_63.variant25 8 rs10957393
dbSNP Clinvar 		68536470 537.67 A G PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.23223 0.23220 0.26404 0.30 0.00 None None None None None None CPA6|0.268380229|29.99%

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 combined sample_63.variant25 8 rs1864384
dbSNP Clinvar 		97847358 2011.83 G T PASS 0/1 93 SYNONYMOUS_CODING LOW None 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 combined sample_63.variant25 8 rs4317614
dbSNP Clinvar 		145623963 4026.81 G A PASS 1/1 406 SYNONYMOUS_CODING LOW None 0.45907 0.45910 0.32616 None None None None None None CPSF1|0.315599788|26.38%

CSGALNACT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_63.variant25 8 rs35971700
dbSNP Clinvar 		19263441 1744.15 G A PASS 0/1 203 SYNONYMOUS_CODING LOW None 0.04253 0.04253 0.05828 None None None None None None CSGALNACT1|0.134495825|45.18%
View combined sample_63.variant25 8 rs7017776
dbSNP Clinvar 		19362768 2843.8 C T PASS 1/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.75479 0.75480 0.25780 0.91 0.01 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 combined sample_63.variant25 8 rs10088378
dbSNP Clinvar 		3265590 1825.74 C T PASS 1/1 145 SYNONYMOUS_CODING LOW None 0.60304 0.60300 0.32955 None None None None None None CSMD1|0.119480951|47.53%