+ 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 259

Genes:
ABCC2, ABLIM1, ACADSB, ACBD5, ACSL5, ADAM12, ADAM8, ADAMTS14, ADARB2, ADRA2A, AFAP1L2, AGAP6, AGAP8, AIFM2, AKR1C1, AKR1C3, AKR1C4, AKR1CL1, AL133481.1, AL359195.1, AL359878.1, ALDH18A1, ANKRD16, ANKRD26, ANKRD30A, ANTXRL, ARHGAP21, ARHGAP22, ARID5B, ARMS2, ASAH2, ASAH2C, ATE1, ATRNL1, BAG3, BICC1, BLNK, BMS1, BTBD16, C10orf131, C10orf53, C10orf54, C10orf71, C10orf85, C10orf95, C10orf99, CALHM1, CALHM2, CALML5, CCDC172, CDH23, CDHR1, CDNF, CHAT, CHST3, CHUK, CNNM2, COL13A1, COL17A1, COX15, CPN1, CSTF2T, CTBP2, CUBN, CYP17A1, CYP26C1, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1C, DDIT4, DHTKD1, DIP2C, DLG5, DMBT1, DNA2, DNAJC9, DNTT, DOCK1, DRGX, EGR2, EIF4EBP2, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM171A1, FAM208B, FAM21A, FAM35A, FANK1, FGFR2, FRA10AC1, FRMD4A, FZD8, GBF1, GFRA1, GJD4, GOLGA7B, GPAM, GPR123, GPRIN2, GRID1, GTPBP4, HABP2, HECTD2, HERC4, HHEX, HK1, HKDC1, HPS1, HPS6, HTRA1, IL15RA, IPMK, ITGB1, ITIH2, JAKMIP3, JMJD1C, KAT6B, KIAA1217, KIAA1279, KIAA1462, KIF20B, KIN, KNDC1, LARP4B, LDB3, LGI1, LIPF, LOXL4, LZTS2, MALRD1, MAP3K8, MAT1A, MBL2, MKI67, MLLT10, MMS19, MPP7, MRC1, MRC1L1, MYO3A, MYPN, NAMPTL, NEBL, NET1, NEUROG3, NFKB2, NOC3L, NODAL, NPFFR1, NPY4R, NRAP, NRP1, NSMCE4A, OBFC1, OGDHL, OPN4, OPTN, PALD1, PARD3, PAX2, PCDH15, PCGF6, PDCD4, PDE6C, PDLIM1, PDZD7, PDZD8, PFKP, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PITRM1, PITX3, PKD2L1, PLAU, PLCE1, PLEKHA1, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRLHR, PRR26, PSD, PSTK, PTCHD3, PTER, PTF1A, RAB11FIP2, RAB18, RASSF4, RBM20, RET, RGR, RGS10, RRP12, RSU1, RUFY2, SAMD8, SEC31B, SEMA4G, SFMBT2, SFTPA1, SFTPA2, SFTPD, SGMS1, SH2D4B, SH3PXD2A, SLC29A3, SLIT1, SMC3, SMNDC1, SNCG, SORBS1, SORCS3, SPOCK2, SPRN, ST8SIA6, STAM, STOX1, SUV39H2, SVIL, SYNPO2L, SYT15, TACC2, TAF3, TAF5, TET1, TMEM180, TMEM26, TTC40, TUBAL3, TUBB8, TUBGCP2, UNC5B, USP54, USP6NL, UTF1, VCL, WAPAL, WDFY4, WDR11, WDR37, ZEB1, ZFYVE27, ZMIZ1, ZMYND11, ZNF239, ZNF33A, ZNF33B, ZNF365, ZNF438, ZRANB1, ZSWIM8,

+ Genes associated with diseases 74

Genes at Omim

ABCC2, ACADSB, AKR1C4, ALDH18A1, ANKRD26, BAG3, BICC1, BLNK, BMS1, CDH23, CDHR1, CHAT, CHST3, CHUK, CNNM2, COL13A1, COL17A1, COX15, CPN1, CUBN, CYP17A1, CYP26C1, CYP2C8, CYP2C9, DCLRE1C, DHTKD1, DNA2, EGR2, ERCC6, ERLIN1, FGFR2, FRMD4A, HABP2, HK1, HPS1, HPS6, HTRA1, KAT6B, KIAA1279, LDB3, LGI1, MAP3K8, MAT1A, MBL2, MYO3A, MYPN, NEUROG3, NFKB2, NODAL, OPTN, PAX2, PCDH15, PDE6C, PDZD7, PHYH, PITX3, PLAU, PLCE1, PTF1A, RAB18, RBM20, RET, RGR, SFTPA2, SLC29A3, SMC3, STOX1, TUBB8, VCL, WDR11, ZEB1, ZFYVE27, ZMYND11, ZNF365,
ABCC2 Dubin-Johnson syndrome, 237500 (3)
ACADSB 2-methylbutyrylglycinuria, 610006 (3)
AKR1C4 {46XY sex reversal 8, modifier of}, 614279 (3)
ALDH18A1 Cutis laxa, autosomal dominant 3, 616603 (3)
Cutis laxa, autosomal recessive, type IIIA, 219150 (3)
Spastic paraplegia 9A, autosomal dominant, 601162 (3)
Spastic paraplegia 9B, autosomal recessive, 616586 (3)
ANKRD26 Thrombocytopenia 2, 188000 (3)
BAG3 Cardiomyopathy, dilated, 1HH, 613881 (3)
Myopathy, myofibrillar, 6, 612954 (3)
BICC1 {Renal dysplasia, cystic, susceptibility to}, 601331 (3)
BLNK ?Agammaglobulinemia 4, 613502 (3)
BMS1 ?Aplasia cutis congenita, nonsyndromic, 107600 (3)
CDH23 Deafness, autosomal recessive 12, 601386 (3)
{Pituitary adenoma 5, multiple types}, 617540 (3)
Usher syndrome, type 1D, 601067 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
CDHR1 Cone-rod dystrophy 15, 613660 (3)
Retinitis pigmentosa 65, 613660 (3)
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
CHUK Cocoon syndrome, 613630 (3)
CNNM2 Hypomagnesemia 6, renal, 613882 (3)
Hypomagnesemia, seizures, and mental retardation, 616418 (3)
COL13A1 Myasthenic syndrome, congenital, 19, 616720 (3)
COL17A1 Epidermolysis bullosa, junctional, localisata variant, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epithelial recurrent erosion dystrophy, 122400 (3)
COX15 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3)
CPN1 Carboxypeptidase N deficiency, 212070 (3)
CUBN Megaloblastic anemia-1, Finnish type, 261100 (3)
CYP17A1 17,20-lyase deficiency, isolated, 202110 (3)
17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)
CYP26C1 Focal facial dermal dysplasia 4, 614974 (3)
CYP2C8 {Drug metabolism, altered, CYP2C8-related}, 618018 (3)
CYP2C9 Tolbutamide poor metabolizer (3)
Warfarin sensitivity, 122700 (3)
DCLRE1C Omenn syndrome, 603554 (3)
Severe combined immunodeficiency, Athabascan type, 602450 (3)
DHTKD1 2-aminoadipic 2-oxoadipic aciduria, 204750 (3)
?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
DNA2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3)
?Seckel syndrome 8, 615807 (3)
EGR2 Charcot-Marie-Tooth disease, type 1D, 607678 (3)
Hypomyelinating neuropathy, congenital, 1, 605253 (3)
Dejerine-Sottas disease, 145900 (3)
ERCC6 Cerebrooculofacioskeletal syndrome 1, 214150 (3)
{Lung cancer, susceptibility to}, 211980 (3)
{Macular degeneration, age-related, susceptibility to, 5}, 613761 (3)
Cockayne syndrome, type B, 133540 (3)
De Sanctis-Cacchione syndrome, 278800 (3)
Premature ovarian failure 11, 616946 (3)
UV-sensitive syndrome 1, 600630 (3)
ERLIN1 Spastic paraplegia 62, 615681 (3)
FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)
Apert syndrome, 101200 (3)
Gastric cancer, somatic, 613659 (3)
Beare-Stevenson cutis gyrata syndrome, 123790 (3)
Bent bone dysplasia syndrome, 614592 (3)
Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)
Craniosynostosis, nonspecific (3)
Crouzon syndrome, 123500 (3)
Jackson-Weiss syndrome, 123150 (3)
LADD syndrome, 149730 (3)
Pfeiffer syndrome, 101600 (3)
Saethre-Chotzen syndrome, 101400 (3)
Scaphocephaly and Axenfeld-Rieger anomaly (3)
Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
FRMD4A ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3)
HABP2 {Venous thromboembolism, susceptibility to}, 188050 (3)
{?Thyroid cancer, nonmedullary, 5}, 616535 (3)
HK1 Hemolytic anemia due to hexokinase deficiency, 235700 (3)
Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)
Retinitis pigmentosa 79, 617460 (3)
HPS1 Hermansky-Pudlak syndrome 1, 203300 (3)
HPS6 Hermansky-Pudlak syndrome 6, 614075 (3)
HTRA1 CARASIL syndrome, 600142 (3)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3)
{Macular degeneration, age-related, 7}, 610149 (3)
{Macular degeneration, age-related, neovascular type}, 610149 (3)
KAT6B Genitopatellar syndrome, 606170 (3)
SBBYSS syndrome, 603736 (3)
KIAA1279 Goldberg-Shprintzen megacolon syndrome, 609460 (3)
LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3)
Cardiomyopathy, hypertrophic, 24, 601493 (3)
Left ventricular noncompaction 3, 601493 (3)
Myopathy, myofibrillar, 4, 609452 (3)
LGI1 Epilepsy, familial temporal lobe, 1, 600512 (3)
MAP3K8 Lung cancer, somatic, 211980 (3)
MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)
Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MBL2 {Chronic infections, due to MBL deficiency}, 614372 (3)
MYO3A Deafness, autosomal recessive 30, 607101 (3)
MYPN Cardiomyopathy, dilated, 1KK, 615248 (3)
Cardiomyopathy, familial restrictive, 4, 615248 (3)
Cardiomyopathy, hypertrophic, 22, 615248 (3)
Nemaline myopathy 11, autosomal recessive, 617336 (3)
NEUROG3 Diarrhea 4, malabsorptive, congenital, 610370 (3)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
NODAL Heterotaxy, visceral, 5, 270100 (3)
OPTN {Glaucoma, normal tension, susceptibility to}, 606657 (3)
Amyotrophic lateral sclerosis 12, 613435 (3)
Glaucoma 1, open angle, E, 137760 (3)
PAX2 Glomerulosclerosis, focal segmental, 7, 616002 (3)
Papillorenal syndrome, 120330 (3)
PCDH15 Deafness, autosomal recessive 23, 609533 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
Usher syndrome, type 1F, 602083 (3)
PDE6C Cone dystrophy 4, 613093 (3)
PDZD7 Deafness, autosomal recessive 57, 618003 (3)
{Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3)
Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3)
PHYH Refsum disease, 266500 (3)
PITX3 Anterior segment dysgenesis 1, multiple subtypes, 107250 (3)
Cataract 11, multiple types, 610623 (3)
Cataract 11, syndromic, autosomal recessive, 610623 (3)
PLAU Quebec platelet disorder, 601709 (3)
{Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
PLCE1 Nephrotic syndrome, type 3, 610725 (3)
PTF1A Pancreatic agenesis 2, 615935 (3)
Pancreatic and cerebellar agenesis, 609069 (3)
RAB18 Warburg micro syndrome 3, 614222 (3)
RBM20 Cardiomyopathy, dilated, 1DD, 613172 (3)
RET {Hirschsprung disease, protection against}, 142623 (3)
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
Central hypoventilation syndrome, congenital, 209880 (3)
Medullary thyroid carcinoma, 155240 (3)
Multiple endocrine neoplasia IIA, 171400 (3)
Multiple endocrine neoplasia IIB, 162300 (3)
Pheochromocytoma, 171300 (3)
RGR Retinitis pigmentosa 44, 613769 (3)
SFTPA2 Pulmonary fibrosis, idiopathic, 178500 (3)
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
SMC3 Cornelia de Lange syndrome 3, 610759 (3)
STOX1 Preeclampsia/eclampsia 4, 609404 (3)
TUBB8 Oocyte maturation defect 2, 616780 (3)
VCL Cardiomyopathy, dilated, 1W, 611407 (3)
Cardiomyopathy, hypertrophic, 15, 613255 (3)
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)
ZEB1 Corneal dystrophy, Fuchs endothelial, 6, 613270 (3)
Corneal dystrophy, posterior polymorphous, 3, 609141 (3)
ZFYVE27 Spastic paraplegia 33, autosomal dominant, 610244 (3)
ZMYND11 Mental retardation, autosomal dominant 30, 616083 (3)
ZNF365 {Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)

Genes at Clinical Genomics Database

ABCC2, ACADSB, ALDH18A1, ANKRD26, BAG3, BICC1, BLNK, BMS1, CDH23, CDHR1, CHAT, CHST3, CHUK, CNNM2, COL13A1, COL17A1, COX15, CPN1, CUBN, CYP17A1, CYP26C1, CYP2C19, CYP2C8, CYP2C9, DCLRE1C, DHTKD1, DNA2, EGR2, ERCC6, ERLIN1, FGFR2, FRMD4A, HABP2, HK1, HPS1, HPS6, HTRA1, IPMK, KAT6B, LDB3, LGI1, MAT1A, MBL2, MYO3A, MYPN, NEUROG3, NFKB2, NODAL, OPTN, PAX2, PCDH15, PDE6C, PDZD7, PHYH, PITX3, PLAU, PLCE1, PTF1A, RAB18, RBM20, RET, RGR, SFTPA2, SLC29A3, SMC3, TUBB8, VCL, WDR11, ZEB1, ZFYVE27, ZMYND11,
ABCC2 Dubin-Johnson syndrome
ACADSB 2-methylbutyryl-CoA dehydrogenase deficiency
ALDH18A1 Cutis laxa, autosomal dominant 3
Spastic paraplegia 9A, autosomal dominant
Cutis laxa, autosomal recessive, type IIIA
Spastic paraplegia 9B, autosomal recessive
ANKRD26 Thrombocytopenia 2
BAG3 Cardiomyopathy, dilated, 1HH
Myopathy, myofibrillar 6
BICC1 Renal dysplasia, cystic, susceptibility to
BLNK Agammaglobulinemia 4
BMS1 Aplasia cutis congenita, nonsyndromic
CDH23 Deafness, autosomal recessive 12
Usher syndrome, type 1D
Usher syndrome, type 1D /F digenic
CDHR1 Cone-rod dystrophy 15
Retinitis pigmentosa 65
CHAT Myasthenic syndrome, congenital 6, presynaptic
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations
CHUK Cocoon syndrome
CNNM2 Hypomagnesemia 6 ,renal
COL13A1 Myasthenic syndrome, congenital, 19
COL17A1 Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
COX15 Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
CPN1 Carboxypeptidase N deficiency
CUBN Megaloblastic anemia-1, Finnish type
CYP17A1 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
CYP26C1 Focal facial dermal dysplasia 4
CYP2C19 Drug metabolism, CYP2C19-related
CYP2C8 Rhabdomyolysis, cerivastatin-induced
CYP2C9 Drug metabolism, CYP2C9-related
DCLRE1C Omenn syndrome
Severe combined immunodeficiency with sensitivity to ionizing radiation
DHTKD1 Charcot-Marie-Tooth disease, type 2Q
2-aminoadipic and 2-oxoadipic aciduria
DNA2 Progressive external ophthalmoplegia with mitochondrial deletions, autosomal dominant, 6
Seckel syndrome 8
EGR2 Charcot-Marie-Tooth disease, demyelinating, type 1D
Neuropathy, congenital hypomyelinating, 1
Dejerine-Sottas disease
ERCC6 Xeroderma Pigmentosum-Cockayne Syndrome
De Sanctis-Cacchione syndrome
Premature ovarian failure 11 (AD)
ERLIN1 Spastic paraplegia 62, autosomal recessive
FGFR2 Lacrimoauriculodentodigital syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Sraniofacial-skeletal-dermatological dysplasia
Crouzon syndrome
Jackson-Weiss syndrome
Pfeiffer syndrome
Apert syndrome
Beare-Stevenson cutis gyrata syndrome
FRMD4A Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia (Fine-Flusser syndrome)
HABP2 Thyroid cancer, nonmedullary 5
HK1 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HPS1 Hermansky-Pudlak syndrome 1
HPS6 Hermansky-Pudlak syndrome 6
HTRA1 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 (CADASIL2)
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
IPMK Small intestinal carcinoid, hereditary
KAT6B Ohdo syndrome, SBBYS variant
Genitopatellar syndrome
LDB3 Cardiomyopathy, dilated 1C, with or without ventricular noncompaction
Myopathy, myofibrillar 4
LGI1 Epilepsy, familial temporal lobe, 1
MAT1A Methionine adenosyltransferase deficiency
MBL2 Mannose-binding protein deficiency
MYO3A Deafness, autosomal recessive 30
MYPN Cardiomyopathy, dilated, 1KK
Cardiomyopathy, familial hypertrophic, 22
Cardiomyopathy, familial restrictive, 4
NEUROG3 Diarrhea 4, malabsorptive, congenital
NFKB2 Immunodeficiency, common variable, 10
NODAL Heterotaxy, visceral, 5
OPTN Glaucoma, normal tension, susceptibility to
Glaucoma 1, open angle, E
PAX2 Isolated renal hypoplasia
Papillorenal syndrome
PCDH15 Deafness, autosomal recessive 23
Usher syndrome, type 1F
Usher syndrome, type 1D/F, digenic
PDE6C Cone dystrophy 4
PDZD7 Usher syndrome, type IIC
PHYH Refsum disease
PITX3 Cataract, posterior polar, 4
Cataract, congenital
Cataract, posterior polar 4, syndromic
Anterior segment mesenchymal dysgenesis
PLAU Quebec platelet disorder
PLCE1 Nephrotic syndrome, type 3
PTF1A Pancreatic and cerebellar agenesis
Pancreatic agenesis 2
RAB18 Warburg micro syndrome 3
RBM20 Cardiomyopathy, dilated, 1DD
RET Central hypoventilation syndrome, congenital
Multiple endocrine neoplasia, type IIA
Multiple endocrine neoplasia IIB
Medullary thyroid carcinoma, familial
Pheochromocytoma
Hirschsprung disease, susceptibility to 1
RGR Retinitis pigmentosa 44
SFTPA2 Pulmonary fibrosis, idiopathic
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome
SMC3 Cornelia de Lange syndrome 3
TUBB8 Oocyte maturation defect 2
VCL Cardiomyopathy, familial hypertrophic 15
Cardiomyopathy, dilated, 1W
WDR11 Hypogonadotropic hypogonadism
Kallmann syndrome
ZEB1 Corneal dystrophy, Fuchs endothelial 6
Corneal dystrophy, posterior polymorphous, 3
ZFYVE27 Spastic paraplegia 33, autosomal dominant
ZMYND11 Mental retardation, autosomal domianant, 30

Genes at HGMD

Summary

Number of Variants: 1112
Number of Genes: 259

Export to: CSV

ABCC2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs8187710
dbSNP Clinvar 		101611294 665.27 G A PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.06789 0.06789 0.09419 0.35 0.00 None None None None None None ABCC2|0.186653982|38.2%
View 16hpc01701_s1 genome 10 rs17222723
dbSNP Clinvar 		101595996 1408.64 T A PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.03734 0.03734 0.06097 1.00 0.01 None None None None None None ABCC2|0.186653982|38.2%
View 16hpc01701_s1 genome 10 rs3740066
dbSNP Clinvar 		101604207 1813.31 C T PASS 0/1 133 SYNONYMOUS_CODING LOW None 0.28814 0.28810 0.33354 None None None None None None ABCC2|0.186653982|38.2%
View 16hpc01701_s1 genome 10 rs1137968
dbSNP Clinvar 		101606861 1077.49 G T PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.03814 0.03814 0.06151 None None None None None None ABCC2|0.186653982|38.2%
View 16hpc01701_s1 genome 10 rs8187707
dbSNP Clinvar 		101610533 736.02 C T PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.03095 0.03095 0.05321 None None None None None None ABCC2|0.186653982|38.2%
View 16hpc01701_s1 genome 10 rs927344
dbSNP Clinvar 		101544447 3285.59 A T PASS 1/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.99461 0.99460 0.00654 1.00 0.00 None None None None None None ABCC2|0.186653982|38.2%

ABLIM1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 . 116331149 7.08 C G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ABLIM1|0.44358146|18.51%

ACADSB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs1140591
dbSNP Clinvar 		124800853 1120.02 C T PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.22784 0.22780 0.22813 None None None None None None ACADSB|0.041043879|65.42%

ACBD5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs7918793
dbSNP Clinvar 		27497191 3284.44 G A PASS 0/1 257 NON_SYNONYMOUS_CODING MODERATE None 0.07288 0.07288 0.05951 0.05 0.18 None None None None None None ACBD5|0.116795914|47.98%
View 16hpc01701_s1 genome 10 rs34037342
dbSNP Clinvar 		27506961 635.16 G A PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.09465 0.09465 0.07389 None None None None None None ACBD5|0.116795914|47.98%
View 16hpc01701_s1 genome 10 rs34856168
dbSNP Clinvar 		27499804 339.32 T C PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.09465 0.09465 0.07397 None None None None None None ACBD5|0.116795914|47.98%
View 16hpc01701_s1 genome 10 rs34613194
dbSNP Clinvar 		27499771 277.38 G A PASS 0/1 28 SYNONYMOUS_CODING LOW None 0.09465 0.09465 0.07397 None None None None None None ACBD5|0.116795914|47.98%

ACSL5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs147992416
dbSNP Clinvar 		114136202 488.05 G A PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.00080 0.00080 0.00038 None None None None None None ACSL5|0.090893632|53.06%

ADAM12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs1278279
dbSNP Clinvar 		127753478 2501.58 G A PASS 0/1 210 SYNONYMOUS_CODING LOW None 0.30272 0.30270 0.25427 None None None None None None ADAM12|0.075293986|56.23%
View 16hpc01701_s1 genome 10 rs2292692
dbSNP Clinvar 		127737930 2409.72 G A PASS 0/1 213 SYNONYMOUS_CODING LOW None 0.12340 0.12340 0.13248 None None None None None None ADAM12|0.075293986|56.23%
View 16hpc01701_s1 genome 10 rs3740199
dbSNP Clinvar 		128019025 1595.09 C G PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.00140 0.42803 0.33 0.00 None None None None None None ADAM12|0.075293986|56.23%

ADAM8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs2275725
dbSNP Clinvar 		135089035 9.8 A G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.90316 0.90320 0.09083 1.00 0.00 None None None None None None ADAM8|0.004556093|86.35%
View 16hpc01701_s1 genome 10 . 135081599 9.29 A G LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.82 0.00 None None None None None None ADAM8|0.004556093|86.35%
View 16hpc01701_s1 genome 10 . 135085958 9.8 C A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None ADAM8|0.004556093|86.35%
View 16hpc01701_s1 genome 10 . 135086024 9.3 C A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.01 None None None None None None ADAM8|0.004556093|86.35%
View 16hpc01701_s1 genome 10 . 135086878 3.07 C A LowGQX;LowQD;SB 0/1 2 SYNONYMOUS_CODING LOW None None None None None None None ADAM8|0.004556093|86.35%

ADAMTS14
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs10999502
dbSNP Clinvar 		72503344 52.84 G A LowGQ;LowGQX 1/1 3 SYNONYMOUS_CODING LOW None 0.31150 0.31150 0.19868 None None None None None None ADAMTS14|0.04385867|64.56%

ADARB2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 . 1405306 4.97 C A LowGQX;LowQD;SB 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.02 1.00 None None None None None None ADARB2|0.14627916|43.56%
View 16hpc01701_s1 genome 10 . 1405627 14.92 G T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ADARB2|0.14627916|43.56%

ADRA2A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 . 112838804 4.97 C A LowGQX;SB 0/1 2 SYNONYMOUS_CODING LOW None None None None None None None ADRA2A|0.119282208|47.55%

AFAP1L2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 . 116060301 14.92 C A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.22 0.00 None None None None None None AFAP1L2|0.092781823|52.66%

AGAP6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 . 51769669 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.93 None None None None None None AGAP6|0.003119632|88.45%
View 16hpc01701_s1 genome 10 . 51769524 9.17 A G LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.15 0.02 None None None None None None AGAP6|0.003119632|88.45%
View 16hpc01701_s1 genome 10 rs201341309
dbSNP Clinvar 		51769562 4.97 G A LowGQX;LowQD;SB 0/1 3 SYNONYMOUS_CODING LOW None 0.06609 0.06609 None None None None None None AGAP6|0.003119632|88.45%
View 16hpc01701_s1 genome 10 rs201151847
dbSNP Clinvar 		51769670 9.8 C T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.06609 0.06609 None None None None None None AGAP6|0.003119632|88.45%

AGAP8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs61846940
dbSNP Clinvar 		51225281 20.17 C G LowGQ;LowGQX;SB 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.54 0.00 None None None None None None None

AIFM2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs2394656
dbSNP Clinvar 		71876382 14.92 C T LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None 0.60064 0.60060 0.32316 None None None None None None AIFM2|0.142363482|44.1%

AKR1C1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs377035250
dbSNP Clinvar 		5014488 30.72 C T LowQD;SB 0/1 69 SYNONYMOUS_CODING LOW None None None None None None None AKR1C1|0.0017482|91.68%
View 16hpc01701_s1 genome 10 rs41316041
dbSNP Clinvar 		5014878 1523.14 A G SB 0/1 304 SYNONYMOUS_CODING LOW None None None None None None None AKR1C1|0.0017482|91.68%
View 16hpc01701_s1 genome 10 rs1138600
dbSNP Clinvar 		5010572 2333.53 A G PASS 1/1 150 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99720 0.99720 None None None None None None AKR1C1|0.0017482|91.68%

AKR1C3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs12387
dbSNP Clinvar 		5139685 1324.04 G A PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.84824 0.84820 0.15693 None None None None None None AKR1C3|0.002438134|89.81%
View 16hpc01701_s1 genome 10 rs7741
dbSNP Clinvar 		5138607 383.88 G A PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.21625 0.21630 0.34805 None None None None None None AKR1C3|0.002438134|89.81%

AKR1C4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs4880718
dbSNP Clinvar 		5255025 5159.05 A G PASS 1/1 201 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 1.00 0.00 None None None None None None AKR1C4|0.002829069|88.97%
View 16hpc01701_s1 genome 10 rs17134592
dbSNP Clinvar 		5260682 801.07 C G PASS 0/1 69 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.10244 0.10240 0.11426 0.25 0.00 None None None None None None AKR1C4|0.002829069|88.97%
View 16hpc01701_s1 genome 10 rs17306779
dbSNP Clinvar 		5242164 1605.45 A G PASS 0/1 127 SYNONYMOUS_CODING LOW None 0.16514 0.16510 0.18853 None None None None None None AKR1C4|0.002829069|88.97%
View 16hpc01701_s1 genome 10 rs3829125
dbSNP Clinvar 		5247784 705.24 C G PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.10284 0.10280 0.11433 1.00 0.00 None None None None None None AKR1C4|0.002829069|88.97%

AKR1CL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 . 5227030 3.07 A C LowGQX;LowQD;SB 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None None

AL133481.1
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 16hpc01701_s1 genome 10 . 81267248 9.8 C T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.16 0.00 None None None None None None None

AL359195.1
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 16hpc01701_s1 genome 10 rs1298908
dbSNP Clinvar 		82013134 9.8 C T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.58926 0.58930 0.24 0.00 None None None None None None None
View 16hpc01701_s1 genome 10 . 82013154 9.8 A T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None None
View 16hpc01701_s1 genome 10 rs2573326
dbSNP Clinvar 		82013146 9.8 T C LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.59844 0.59840 1.00 0.00 None None None None None None None

AL359878.1
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 16hpc01701_s1 genome 10 rs4880745
dbSNP Clinvar 		1018585 9.8 T G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.58706 0.58710 0.41 None None None None None None None

ALDH18A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs1804934
dbSNP Clinvar 		97371146 1100.23 G A PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.02496 0.02496 0.03037 None None None None None None ALDH18A1|0.458870791|17.74%

ANKRD16
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs1052420
dbSNP Clinvar 		5920121 7.08 T C LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.80391 0.80390 0.17846 0.33 0.01 None None None None None None ANKRD16|0.021840736|73.25%

ANKRD26
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs2274741
dbSNP Clinvar 		27303605 1779.09 A T PASS 0/1 183 NON_SYNONYMOUS_CODING MODERATE None 0.31729 0.31730 0.17173 1.00 0.00 None None None None None None ANKRD26|0.003195391|88.32%
View 16hpc01701_s1 genome 10 rs7897309
dbSNP Clinvar 		27389197 1569.99 T C PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.94469 0.94470 0.10655 1.00 0.00 None None None None None None ANKRD26|0.003195391|88.32%
View 16hpc01701_s1 genome 10 rs2297145
dbSNP Clinvar 		27381349 1698.43 T C PASS 0/1 139 SYNONYMOUS_CODING LOW None 0.34665 0.34660 0.21011 None None None None None None ANKRD26|0.003195391|88.32%
View 16hpc01701_s1 genome 10 rs12359281
dbSNP Clinvar 		27353007 839.96 T C PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.06709 0.06709 0.04125 0.27 0.03 None None None None None None ANKRD26|0.003195391|88.32%
View 16hpc01701_s1 genome 10 rs10829163
dbSNP Clinvar 		27317840 1104.72 C T PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.31729 0.31730 0.17227 1.00 0.00 None None None None None None ANKRD26|0.003195391|88.32%
View 16hpc01701_s1 genome 10 rs28477279
dbSNP Clinvar 		27335399 1420.16 C T PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.02696 0.02696 0.02627 0.31 0.00 None None None None None None ANKRD26|0.003195391|88.32%

ANKRD30A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs1209750
dbSNP Clinvar 		37488689 9.8 G C LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.48223 0.48220 0.40331 0.27 0.00 None None None None None None ANKRD30A|0.001436042|93.14%

ANTXRL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs2999446
dbSNP Clinvar 		47682811 7.08 G A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.14457 0.14460 None None None None None None ANTXRL|0.000107209|99.93%

ARHGAP21
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs10734053
dbSNP Clinvar 		24879281 9.8 A G LowGQ;LowGQX;SB 1/1 1 None None None 1.00000 1.00000 None None None None None None ARHGAP21|0.073197055|56.74%

ARHGAP22
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs4080665
dbSNP Clinvar 		49687800 14.91 G A LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None 0.78934 0.78930 0.25035 None None None None None None ARHGAP22|0.033591165|67.92%
View 16hpc01701_s1 genome 10 rs3827681
dbSNP Clinvar 		49659637 9.8 T C LowGQ;LowGQX;SB 1/1 1 None None None 0.50280 0.50280 0.00 None None None None None None ARHGAP22|0.033591165|67.92%
View 16hpc01701_s1 genome 10 rs10776601
dbSNP Clinvar 		49659559 31.85 C T SB 0/1 3 None None None 0.79193 0.79190 0.68 0.00 None None None None None None ARHGAP22|0.033591165|67.92%

ARID5B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 . 63852311 4.97 C A LowGQX;LowQD;SB 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.99 None None None None None None ARID5B|0.90719341|3.3%

ARMS2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs10490924
dbSNP Clinvar 		124214448 1577.17 G T PASS 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.28654 0.28650 0.20548 0.00 0.87 None None None None None None ARMS2|0.000659964|97.48%

ASAH2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs3739979
dbSNP Clinvar 		52002980 902.92 T G PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.30431 0.30430 0.20898 None None None None None None ASAH2|0.030478627|69.19%
View 16hpc01701_s1 genome 10 rs7097319
dbSNP Clinvar 		52005153 943.04 A G PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.33207 0.33210 0.23489 None None None None None None ASAH2|0.030478627|69.19%

ASAH2C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs993869
dbSNP Clinvar 		48029324 93.71 A C LowGQ;LowGQX;LowMQ;SB 1/1 11 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ASAH2B|0.008556304|82.12%
View 16hpc01701_s1 genome 10 rs3739968
dbSNP Clinvar 		48003992 403.46 C T PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.34665 0.34660 1.00 0.00 None None None None None None ASAH2B|0.008556304|82.12%

ATE1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 . 123549756 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.19 0.09 None None None None None None ATE1|0.12976795|45.9%

ATRNL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs10885721
dbSNP Clinvar 		117228794 480.29 A G PASS 1/1 17 SYNONYMOUS_CODING LOW None 0.34445 0.34440 0.45552 None None None None None None ATRNL1|0.785284373|6.21%
View 16hpc01701_s1 genome 10 rs2254619
dbSNP Clinvar 		117486763 4860.22 G T PASS 1/1 173 SYNONYMOUS_CODING LOW None 0.20108 0.20110 0.31893 None None None None None None ATRNL1|0.785284373|6.21%
View 16hpc01701_s1 genome 10 rs1953758
dbSNP Clinvar 		117075175 6410.43 G A PASS 1/1 226 NON_SYNONYMOUS_CODING MODERATE None 0.96905 0.96900 0.03522 0.58 0.00 None None None None None None ATRNL1|0.785284373|6.21%

BAG3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs196295
dbSNP Clinvar 		121436362 2758.51 A G PASS 0/1 281 SYNONYMOUS_CODING LOW None 0.70647 0.70650 0.22966 None None None None None None BAG3|0.07885075|55.47%

BICC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs4948550
dbSNP Clinvar 		60588553 2451.88 T C PASS 1/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.60743 0.60740 0.37952 1.00 0.00 None None None None None None BICC1|0.434919209|18.95%
View 16hpc01701_s1 genome 10 rs9416746
dbSNP Clinvar 		60573753 5000.53 G T PASS 1/1 174 None None None 0.74661 0.74660 0.24881 0.11 0.00 None None None None None None BICC1|0.434919209|18.95%
View 16hpc01701_s1 genome 10 rs4344442
dbSNP Clinvar 		60577393 3533.93 T C PASS 1/1 119 SYNONYMOUS_CODING LOW None 0.73742 0.73740 0.26203 None None None None None None BICC1|0.434919209|18.95%

BLNK
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs727852
dbSNP Clinvar 		97990583 904.49 A G PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.46126 0.46130 0.44180 None None None None None None BLNK|0.20887815|35.7%

BMS1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs7074877
dbSNP Clinvar 		43281089 14.92 T C LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None 0.56110 0.56110 0.46063 None None None None None None BMS1|0.150591768|42.91%
View 16hpc01701_s1 genome 10 . 43281073 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None BMS1|0.150591768|42.91%

BTBD16
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs2421013
dbSNP Clinvar 		124089036 52.84 G A LowGQ;LowGQX 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.61601 0.61600 0.45710 1.00 0.00 None None None None None None BTBD16|0.010433592|80.54%
View 16hpc01701_s1 genome 10 rs753828510
dbSNP Clinvar 		124090769 9.8 A G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.09 None None None None None None BTBD16|0.010433592|80.54%
View 16hpc01701_s1 genome 10 rs986178
dbSNP Clinvar 		124089075 4.97 G A LowGQX;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.09585 0.09585 0.09296 0.01 0.74 None None None None None None BTBD16|0.010433592|80.54%

C10orf131
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs766430705
dbSNP Clinvar 		97681829 9.8 A G LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None C10orf131|0.019224883|74.56%

C10orf53
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs1133837
dbSNP Clinvar 		50901938 9.8 C T LowGQ;LowGQX;SB 1/1 1 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.35304 0.35300 0.44049 None None None None None None C10orf53|0.004766771|86.14%

C10orf54
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 . 73521410 14.92 C A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.14 None None None None None None CDH23|0.499757104|15.83%,C10orf54|0.085055857|54.19%

C10orf71
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs11101095
dbSNP Clinvar 		50534350 47.39 G A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.10304 0.10300 0.66 0.00 None None None None None None C10orf71|0.00488492|85.95%
View 16hpc01701_s1 genome 10 . 50533981 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.01 None None None None None None C10orf71|0.00488492|85.95%
View 16hpc01701_s1 genome 10 . 50534156 9.3 G T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.98 None None None None None None C10orf71|0.00488492|85.95%

C10orf85
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 . 122357868 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.81 None None None None None None LINC01561|0.001028335|95.24%

C10orf95
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 . 104210669 7.08 A C LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.20 None None None None None None C10orf95|0.005848473|84.77%

C10orf99
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 . 85936245 7.08 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.51 0.23 None None None None None None C10orf99|0.001492515|92.8%

CALHM1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs2986017
dbSNP Clinvar 		105218252 2522.51 A G PASS 0/1 193 NON_SYNONYMOUS_CODING MODERATE None 0.87201 0.87200 0.20363 0.44 0.00 None None None None None None CALHM1|0.140063286|44.38%
View 16hpc01701_s1 genome 10 rs2986018
dbSNP Clinvar 		105218359 1960.19 T C PASS 0/1 173 SYNONYMOUS_CODING LOW None 0.88478 0.88480 0.18169 None None None None None None CALHM1|0.140063286|44.38%

CALHM2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 . 105207107 14.92 C G LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.17 0.01 None None None None None None CALHM2|0.171017325|40.18%

CALML5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs10904516
dbSNP Clinvar 		5541181 9.8 T C LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.35324 0.35320 0.07643 1.00 0.20 None None None None None None CALML5|0.000872052|96.2%
View 16hpc01701_s1 genome 10 rs10904517
dbSNP Clinvar 		5541183 9.8 C T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.35543 0.35540 0.05851 None None None None None None CALML5|0.000872052|96.2%

CCDC172
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 . 118084540 9.3 T C LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None CCDC172|0.160807356|41.42%

CDH23
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 10 rs3752751
dbSNP Clinvar 		73455273 2527.8 T C PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.55391 0.55390 0.33060 None None None None None None CDH23|0.499757104|15.83%
View 16hpc01701_s1 genome 10 rs1227065
dbSNP Clinvar 		73492079 4667.98 A G PASS 1/1 165 NON_SYNONYMOUS_CODING MODERATE None 0.78215 0.78210 0.18710 1.00 0.00 None None None None None None CDH23|0.499757104|15.83%,C10orf105|0.03223183|68.5%
View 16hpc01701_s1 genome 10 rs3802720
dbSNP Clinvar 		73270906 2253.21 T C PASS 0/1 185 SYNONYMOUS_CODING LOW None 0.73463 0.73460 0.25040 None None None None None None CDH23|0.499757104|15.83%
View 16hpc01701_s1 genome 10 rs3802719
dbSNP Clinvar 		73270982 1182.67 G A PASS 0/1 85 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.72524 0.72520 0.26035 0.65 0.00 None None None None None None CDH23|0.499757104|15.83%