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:
ABCA7, ABHD17A, ABHD8, AC024592.12, AC025278.1, ACER1, ACSBG2, ADAMTSL5, AKAP8, ALDH16A1, AMH, ANGPTL4, ANKRD24, AP2A1, AP3D1, APBA3, APC2, ARHGEF18, ARID3A, ARRDC5, ASPDH, ATP13A1, ATP4A, ATP8B3, AZU1, BCAM, BIRC8, BTBD2, C19orf24, C19orf59, C19orf77, C2CD4C, C3, CA11, CACNG6, CACTIN, CAMSAP3, CCDC94, CD37, CD70, CELF5, CERS1, CILP2, CIRBP, CKM, CLC, CLEC17A, CNN2, CNTD2, COL5A3, COLGALT1, COMP, CPAMD8, CSNK1G2, CTD-2368P22.1, CTD-3193O13.9, CYP4F12, CYP4F22, DAPK3, DBP, DDA1, DENND1C, DHX34, DMRTC2, DNMT1, DOHH, DOT1L, DPY19L3, EBI3, EEF2, ELANE, EMC10, EMR1, EMR3, EPS15L1, EPS8L1, ERF, EVI5L, F2RL3, FBN3, FCGBP, FEM1A, FGF22, FLT3LG, FOXA3, FSD1, FSTL3, FUT3, FUT5, FUT6, FUZ, GADD45B, GFY, GGN, GIPC3, GMIP, GNA15, GPR108, GPX4, GRAMD1A, GRIN2D, GRIN3B, GZMM, HAUS5, HAUS8, HCN2, HDGFRP2, HIF3A, HMHA1, HNRNPUL1, HOOK2, HPN, IFNL3, ILVBL, INSR, IRF2BP1, IRGQ, JAK3, JSRP1, JUND, KCNC3, KCNK6, KDM4B, KHSRP, KIR2DS4, KISS1R, KLF16, KLK1, KLK11, KLK15, KLK2, KLK7, LDLR, LGI4, LILRA2, LILRA3, LILRA4, LILRB1, LILRB2, LILRB3, LILRB5, LINGO3, LMNB2, LPPR3, LRRC8E, LSR, LTBP4, MADCAM1, MAP2K2, MAP4K1, MARK4, MAST3, MBD3L2, MBD3L3, MED16, MED26, MED29, MFSD12, MIDN, MISP, MKNK2, MPND, MRPL54, MRPS12, MUM1, MYBPC2, MYO9B, NAPA, NCAN, NCLN, NDUFA11, NDUFA13, NDUFS7, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP9, OCEL1, ODF3L2, OR4F17, OR7D4, PAF1, PALM, PCSK4, PDE4A, PEG3, PEX11G, PHLDB3, PIAS4, PIK3R2, PINLYP, PLD3, PLIN3, PLIN4, PLIN5, PLK5, PNPLA6, POLD1, POLR2E, POLRMT, PPAP2C, PPM1N, PPP1R12C, PPP1R13L, PPP2R1A, PRPF31, PRSS57, PSG1, PSG8, PSG9, PSMD8, PTBP1, PTGER1, PTPRS, PVR, PVRL2, RASGRP4, REXO1, RFPL4AL1, RNF126, RSPH6A, SBNO2, SCAF1, SCN1B, SEMA6B, SH2D3A, SH3GL1, SHC2, SHD, SIGLEC11, SIGLEC7, SIN3B, SIPA1L3, SIRT6, SLC25A23, SLC25A42, SLC27A1, SLC6A16, SMARCA4, SPC24, SPHK2, SPTBN4, STAP2, SUV420H2, TBXA2R, TCF3, TGFBR3L, THEG, TICAM1, TJP3, TLE2, TMC4, TMEM259, TMIGD2, TMPRSS9, TNFSF14, TNFSF9, TNPO2, TRAPPC5, TTYH1, TUBB4A, TULP2, U2AF2, UBA2, UBE2S, UBXN6, USP29, VN1R2, VRK3, WDR18, WIZ, ZFR2, ZNF160, ZNF225, ZNF283, ZNF304, ZNF321P, ZNF331, ZNF414, ZNF416, ZNF418, ZNF419, ZNF44, ZNF444, ZNF461, ZNF473, ZNF525, ZNF530, ZNF541, ZNF550, ZNF554, ZNF555, ZNF557, ZNF558, ZNF563, ZNF564, ZNF567, ZNF57, ZNF578, ZNF579, ZNF585A, ZNF587B, ZNF599, ZNF613, ZNF626, ZNF665, ZNF701, ZNF77, ZNF816, ZNF823, ZNF880, ZNRF4,

Genes at Omim

ABCA7, AMH, ANGPTL4, AP3D1, C3, CERS1, COMP, CYP4F22, DNMT1, EEF2, ELANE, ERF, FUT3, FUT6, FUZ, GIPC3, GPX4, IFNL3, INSR, JAK3, KCNC3, KISS1R, KLK1, LDLR, LMNB2, LTBP4, MAP2K2, MYO9B, NDUFA11, NDUFA13, NDUFS7, NLRP12, PIK3R2, PNPLA6, POLD1, PPP2R1A, PRPF31, SCN1B, SH3GL1, SIPA1L3, SMARCA4, TBXA2R, TCF3, TICAM1, TUBB4A,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
ANGPTL4 Plasma triglyceride level QTL, low, 615881 (3)
AP3D1 ?Hermansky-Pudlak syndrome 10, 617050 (3)
C3 C3 deficiency, 613779 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
CERS1 ?Epilepsy, progressive myoclonic, 8, 616230 (3)
COMP Epiphyseal dysplasia, multiple, 1, 132400 (3)
Pseudoachondroplasia, 177170 (3)
CYP4F22 Ichthyosis, congenital, autosomal recessive 5, 604777 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
EEF2 ?Spinocerebellar ataxia 26, 609306 (3)
ELANE Neutropenia, cyclic, 162800 (3)
Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)
ERF Craniosynostosis 4, 600775 (3)
FUT3 [Blood group, Lewis] (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
FUZ Neural tube defects, 182940 (3)
GIPC3 Deafness, autosomal recessive 15, 601869 (3)
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
IFNL3 {Hepatitis C virus infection, response to therapy of}, 609532 (3)
INSR Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)
Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)
Leprechaunism, 246200 (3)
Rabson-Mendenhall syndrome, 262190 (3)
JAK3 SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
KISS1R ?Precocious puberty, central, 1, 176400 (3)
Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3)
KLK1 [Kallikrein, decreased urinary activity of], 615953 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LMNB2 ?Epilepsy, progressive myoclonic, 9, 616540 (3)
{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAP2K2 Cardiofaciocutaneous syndrome 4, 615280 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NDUFA11 Mitochondrial complex I deficiency, 252010 (3)
NDUFA13 {Thyroid carcinoma, Hurthle cell}, 607464 (3)
NDUFS7 Leigh syndrome, 256000 (3)
NLRP12 Familial cold autoinflammatory syndrome 2, 611762 (3)
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PNPLA6 ?Laurence-Moon syndrome, 245800 (3)
Boucher-Neuhauser syndrome, 215470 (3)
Oliver-McFarlane syndrome, 275400 (3)
Spastic paraplegia 39, autosomal recessive, 612020 (3)
POLD1 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)
{Colorectal cancer, susceptibility to, 10}, 612591 (3)
PPP2R1A Mental retardation, autosomal dominant 36, 616362 (3)
PRPF31 Retinitis pigmentosa 11, 600138 (3)
SCN1B Atrial fibrillation, familial, 13, 615377 (3)
Brugada syndrome 5, 612838 (3)
Cardiac conduction defect, nonspecific, 612838 (3)
Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3)
SH3GL1 Leukemia, acute myeloid, 601626 (1)
SIPA1L3 ?Cataract 45, 616851 (3)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TCF3 Agammaglobulinemia 8, autosomal dominant, 616941 (3)
TICAM1 {Herpes simplex encephalitic, susceptibility to, 6}, 614850 (3)
TUBB4A Dystonia 4, torsion, autosomal dominant, 128101 (3)
Leukodystrophy, hypomyelinating, 6, 612438 (3)

Genes at Clinical Genomics Database

AMH, BCAM, C3, CERS1, COMP, CYP4F22, DNMT1, ELANE, ERF, FUT3, FUT6, FUZ, GIPC3, GPX4, IFNL3, INSR, JAK3, KCNC3, KISS1R, LDLR, LMNB2, LTBP4, MAP2K2, NDUFA11, NDUFA13, NDUFS7, NLRP12, NLRP7, PIK3R2, PNPLA6, POLD1, PPP2R1A, PRPF31, SCN1B, SIPA1L3, SMARCA4, TBXA2R, TCF3, TICAM1, TUBB4A,
AMH Persistent Mullerian duct syndrome, type I
BCAM Lutheran, null
Blood group, Auberger system
Blood group, Lutheran system
C3 Hemolytic uremic syndrome, atypical, susceptibility to, 5
Complement component 3 deficiency, autosomal recessive
CERS1 Epilepsy, progressive myoclonic 8
COMP Multiple ephiphyseal dysplasia
Pseudoachondroplasia
CYP4F22 Ichthyosis, congenital, autosomal recessive 5
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
Neuropathy, hereditary sensory, type IE
ELANE Neutropenia, cyclic
Neutropenia, severe congenital 1, autosomal dominant
ERF Craniosynostosis 4
FUT3 Blood group, Lewis
FUT6 Fucosyltransferase 6 deficiency
FUZ Neural tube defects, susceptibility to
GIPC3 Deafness, autosomal recessive 15
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
IFNL3 Drug metabolism, IL28B-related
INSR Donohoe syndrome
Rabson-Mendenhall syndrome
Hyperinsulinemic hypoglycemia, familial, 5
JAK3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, natural killer cell-negative
KCNC3 Spinocerebellar ataxia 13
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia
LDLR Hypercholesterolemia, familial
LMNB2 Epilepsy, progressive myoclonic, 9
Liopdystrophy, partial, acquired
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAP2K2 Cardiofaciocutaneous syndrome
NDUFA11 Mitochondrial complex I deficiency
NDUFA13 Thyroid carcinoma, Hurthle cell
NDUFS7 Leigh syndrome
Mitochondrial complex I deficiency
NLRP12 Familial cold autoinflammatory syndrome 2
NLRP7 Hydatidiform mole, recurrent, 1
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PNPLA6 Oliver-McFarlane syndrome
Laurence-Moon syndrome
Boucher-Neuhauser syndrome
POLD1 Colorectal cancer, susceptibility to, 10
PPP2R1A Mental retardation, autosomal dominant 36
PRPF31 Retinitis pigmentosa 11
SCN1B Brugada syndrome 5
Atrial fibrillation, familial 13
SIPA1L3 Cataract 45
SMARCA4 Rhabdoid tumor predisposition syndrome 2
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TCF3 Agammaglobulinemia 8, autosomal dominant
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TUBB4A Leukodystrophy, hypomyelinating, 6
Dystonia 4, torsion, autosomal dominant

Genes at HGMD

Summary

Number of Variants: 8083
Number of Genes: 315

Export to: CSV

ABCA7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 1056228 3207.57 T C PASS 0/1 67 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1056493 49498.78 G C PASS 1/1 67 SYNONYMOUS_CODING LOW SILENT -1.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1047003 7220.97 A G PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1047162 17063.54 A G PASS 0/1 137 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1049306 21667.3 C A PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.44 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1065019 5077.69 G T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.43 -1.19 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1064194 7257.75 G A PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.84 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1052006 24777.56 C T PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1054061 62830.57 A G PASS 1/1 151 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1042810 39128.36 A G PASS 0/1 53 SYNONYMOUS_CODING LOW 0.62 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1055192 11689.56 G A PASS 0/1 63 SYNONYMOUS_CODING LOW SILENT -0.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1056066 22026.76 A G PASS 1/1 55 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 0.95 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1056422 2889.57 G A PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.02 None None None None None None None

ABHD17A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 1880951 44774.65 T C PASS 1/1 51 SYNONYMOUS_CODING LOW SILENT -2.03 None None None None None None None

ABHD8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 17403631 33773.05 G C PASS 1/1 1 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49 0.02 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 17405591 173947.24 A AG... PASS 1/1 52 FRAME_SHIFT HIGH None None None None None None None

AC024592.12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 5867737 44832.67 G T PASS 1/1 172 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37 0.22 None None None None None None None

AC025278.1

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 23 recalibrated filtered postcgp gqfiltered 19 . 7012015 151.82 A G PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.10 None None None None None None None

ACER1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 6312279 14714.28 T C PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE MISSENSE -0.09 None None None None None None None

ACSBG2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 6156472 284867.99 T C PASS 1/1 58 SYNONYMOUS_CODING LOW -0.15 None None None None None None None

ADAMTSL5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 1507271 446.63 C T PASS 0/1 36 SYNONYMOUS_CODING LOW SILENT 5.66 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1510662 3193.05 A G PASS 1/1 21 SYNONYMOUS_CODING LOW None None None None None None None

AKAP8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 15469847 1580.64 G A PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT 5.82 None None None None None None None

ALDH16A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 49971760 46851.2 G A PASS 0/1 240 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 49971820 43591.2 C T PASS 0/1 266 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 49972209 9063.84 G A PASS 0/1 58 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 49972201 9370.72 T A PASS 0/1 61 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 49971818 43591.2 G A PASS 0/1 269 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 49971819 43591.2 T A PASS 0/1 267 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.68 None None None None None None None

AMH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 2251513 969.14 T A PASS 1/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52 0.05 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 2251818 28071.26 T C PASS 1/1 130 SYNONYMOUS_CODING LOW 0.79 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 2249478 20171.73 G T PASS 1/1 98 SYNONYMOUS_CODING LOW SILENT 1.77 None None None None None None None

ANGPTL4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 8430881 4404.37 G A PASS 0/1 28 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 8438690 12134.47 A G PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.85 None None None None None None None

ANKRD24

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 rs775921856
dbSNP
4210359 7721.75 G A PASS 0/1 126 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.36 3.63 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 4198157 533.8 C T PASS 0/1 45 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 4200159 7042.01 G A PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.95 -0.49 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 4217210 29538.19 T G PASS 1/1 105 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.00 -1.30 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 4217590 280.37 G A PASS 0/1 18 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 4216913 27635.69 G A PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.01 0.19 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 4217959 1631.48 A G PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AP2A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 50308964 24274.25 A G PASS 1/1 141 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 50310006 3233.06 T G PASS 1/1 16 SYNONYMOUS_CODING LOW None None None None None None None

AP3D1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 2138655 42318.24 T G PASS 1/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14 0.11 None None None None None None None

APBA3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 rs368746082
dbSNP
3753771 5851.42 C T PASS 0/1 212 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00008 0.03 0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 3752876 32108.98 A G,C PASS 0/1 146 NON_SYNONYMOUS_CODING MODERATE MISSENSE -0.13 None None None None None None None

APC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 1467685 2859.25 A C PASS 1/1 38 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09 None None None None None None None

ARHGEF18

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 7534849 2342.29 A C PASS 0/1 240 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.01 None None None None None None None

ARID3A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 rs1799595
dbSNP
929753 6652.93 A G PASS 1/1 35 SYNONYMOUS_CODING LOW SILENT 0.88419 0.88420 0.12487 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs3746144
dbSNP
929543 108.48 C T PASS 0/1 18 SYNONYMOUS_CODING LOW SILENT 0.16274 0.16270 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs3826948
dbSNP
929678 3566.36 G A PASS 0/1 22 SYNONYMOUS_CODING LOW SILENT 0.46086 0.46090 0.42350 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs34967265
dbSNP
929741 393.23 C T PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT 0.16074 0.16070 0.11017 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs12608658
dbSNP
965043 81560.4 T C PASS 1/1 45 SYNONYMOUS_CODING LOW SILENT 0.93890 0.93890 0.05167 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs6510986
dbSNP
966693 33937.69 C T PASS 1/1 81 SYNONYMOUS_CODING LOW SILENT 0.71486 0.71490 0.18296 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs141423769
dbSNP
971909 723.63 G C PASS 0/1 66 SYNONYMOUS_CODING LOW SILENT 0.00399 0.00399 0.00415 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 971933 26970.3 AGGC GG... PASS 1/1 49 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs1051505,rs552779877
dbSNP
971949 40973.23 G A,... PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02935 0.02935 0.17055 -0.03 None None None None None None None

ARRDC5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 4902742 48279.48 G A PASS 0/1 102 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ASPDH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 51016195 9735.46 T C PASS 1/1 44 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 51016003 10791.0 C T PASS 1/1 101 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 51015980 9985.76 A G PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.23 -0.49 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 51015663 149.63 C T PASS 0/1 19 SYNONYMOUS_CODING LOW None None None None None None None

ATP13A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 19758070 1761.28 A C PASS 1/1 53 SYNONYMOUS_CODING LOW None None None None None None None

ATP4A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 36046069 18.02 T A PASS 0/1 8 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 0.80 None None None None None None None

ATP8B3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 1783262 8589.67 C T PASS 0/1 82 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1811548 42302.2 A G PASS 1/1 84 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1784891 13376.76 A G PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1796796 1112.63 G A PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.91 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1811604 19985.32 C T PASS 0/1 105 SYNONYMOUS_CODING LOW SILENT 2.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1796167 18495.82 C T PASS 0/1 78 SYNONYMOUS_CODING LOW SILENT 1.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1784945 12512.85 A G PASS 0/1 37 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.11 0.04 None None None None None None None

AZU1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 rs61732996
dbSNP
830841 3533.63 G A PASS 0/1 360 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00459 0.00459 0.00484 0.10 0.90 2.98 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs595844
dbSNP
830854 42088.11 T C PASS 0/1 367 SYNONYMOUS_CODING LOW SILENT 0.66693 0.66690 0.34922 None None None None None None None

BCAM

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 45315577 26281.72 A G PASS 0/1 58 SYNONYMOUS_CODING LOW None None None None None None None

BIRC8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 53793517 2932.81 A C PASS 0/1 155 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 53793448 3619.29 C T PASS 0/1 201 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 53793466 3798.99 T C PASS 0/1 208 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 53793497 3067.91 C T PASS 0/1 175 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 1.00 None None None None None None None

BTBD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 1997364 65492.8 A G PASS 0/1 98 SYNONYMOUS_CODING LOW None None None None None None None

C19orf24

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 1277276 3284.08 G C PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.39 None None None None None None None

C19orf59

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 7743277 37530.02 G C PASS 0/1 48 SYNONYMOUS_CODING LOW None None None None None None None

C19orf77

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 3478458 759.82 G A PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61 None None None None None None None

C2CD4C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 rs77329059
dbSNP
407552 639.68 C T PASS 0/1 72 SYNONYMOUS_CODING LOW SILENT 0.01118 0.01118 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs10411998
dbSNP
407900 2848.42 A G PASS 1/1 88 SYNONYMOUS_CODING LOW SILENT 0.74281 0.74280 None None None None None None None

C3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 6710771 3907.57 G T PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.77 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 6697395 62717.67 A G PASS 1/1 144 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 6690735 10313.28 A G PASS 0/1 55 PROTEIN_INTERACTION_LOCUS HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 6690733 10751.28 A G PASS 0/1 57 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 6677978 108708.52 G A PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.48 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 6679500 127032.09 C T PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 6681980 11645.35 G A PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.95 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 6702146 75958.51 C G PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26 0.02 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 6718376 6163.35 G C PASS 0/1 166 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.02 -0.23 None None rs2230199 2 C3S/C3F_POLYMORPHISM 0 None
View 23 recalibrated filtered postcgp gqfiltered 19 . 6690731 10611.28 A G PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21 0.03 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 6702587 104263.66 G A PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.04 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 6713251 4354.35 G A PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.87 0.43 None None rs1047286 2 C3_POLYMORPHISM,_HAV_4-1_PLUS/MINUS_TYPE 0 None

CA11

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 49148871 26806.13 GT G PASS 0/1 33 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 49148873 26805.13 G A PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09 0.73 None None None None None None None

CACNG6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 54502908 9588.34 G A PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39 0.80 None None None None None None None

CACTIN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 rs747598232
dbSNP
3624007 1412.35 G A PASS 0/1 73 SYNONYMOUS_CODING LOW SILENT 2.97 None None None None None None None