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Genes:
A4GALT, ACO2, AIFM3, ALG12, AP1B1, APOBEC3B, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, ARFGAP3, ARHGAP8, ARVCF, ASPHD2, ATP5L2, BAIAP2L2, BCL2L13, BCR, BPIFC, C1QTNF6, C22orf15, C22orf23, C22orf24, C22orf31, C22orf42, C22orf46, CABIN1, CACNA1I, CARD10, CCDC116, CCDC134, CCT8L2, CECR1, CECR2, CELSR1, CENPM, CERK, CHCHD10, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRYBA4, CRYBB3, CSF2RB, CYP2D6, CYTH4, DENND6B, DERL3, DGCR6, DGCR6L, EFCAB6, EIF3D, EIF3L, EIF4ENIF1, ELFN2, EP300, FAM109B, FAM118A, FBLN1, FBXO7, FOXRED2, GAB4, GAS2L1, GCAT, GGA1, GGT5, GGTLC2, GNAZ, GNB1L, GRAMD4, GTSE1, HDAC10, HMGXB4, HPS4, IL17RA, IL17REL, IL2RB, INPP5J, ISX, KCNJ4, KCTD17, KIAA1671, KLHDC7B, L3MBTL2, LARGE, LIMK2, LMF2, LRP5L, LZTR1, MAPK11, MAPK12, MAPK8IP2, MB, MCHR1, MCM5, MEI1, MICAL3, MICALL1, MIOX, MKL1, MLC1, MMP11, MOV10L1, MPPED1, MRPL40, MTFP1, MTMR3, MYH9, MYO18B, NAGA, NCF4, NDUFA6, NEFH, NIPSNAP1, NUP50, ODF3B, OSBP2, P2RX6, PACSIN2, PARVB, PARVG, PATZ1, PES1, PIK3IP1, PIM3, PIWIL3, PLA2G3, PLXNB2, PNPLA3, PNPLA5, PPIL2, PPM1F, PPP6R2, PRAME, PRODH, RAB36, RAC2, RANGAP1, RFPL1, RFPL2, RFPL3, RGL4, RIBC2, RIMBP3, RNF215, RPL3, RRP7A, RTCB, RTDR1, SAMM50, SBF1, SCO2, SCUBE1, SEC14L2, SEC14L3, SEC14L6, SERHL2, SERPIND1, SFI1, SGSM1, SH3BP1, SHANK3, SLC16A8, SLC2A11, SLC35E4, SLC5A1, SLC7A4, SMARCB1, SMC1B, SMTN, SNAP29, SNRPD3, SPECC1L, SREBF2, SRRD, SSTR3, SYNGR1, TBC1D10A, TBX1, TCN2, TEF, TEX33, TFIP11, THAP7, THOC5, TOB2, TOP3B, TPST2, TRIOBP, TSPO, TTC38, TTLL1, TUBA8, TUBGCP6, TXNRD2, TYMP, UPB1, UPK3A, USP18, WBP2NL, XBP1, XKR3, YDJC, ZC3H7B, ZNF280A, ZNF280B,

Genes at Omim

A4GALT, ACO2, ALG12, APOL1, APOL2, APOL4, BCR, CHCHD10, COMT, CRYBA4, CRYBB3, CSF2RB, CYP2D6, EP300, FBLN1, FBXO7, HPS4, IL17RA, KCTD17, LARGE, LZTR1, MCM5, MKL1, MLC1, MYH9, MYO18B, NAGA, NCF4, NDUFA6, NEFH, PRODH, RAC2, SBF1, SCO2, SHANK3, SLC5A1, SMARCB1, SNAP29, SPECC1L, TBX1, TCN2, TRIOBP, TUBA8, TUBGCP6, TXNRD2, TYMP, UPB1, USP18, XBP1,
A4GALT NOR polyagglutination syndrome, 111400 (3)
[Blood group, P1Pk system, P(2) phenotype], 111400 (3)
[Blood group, P1Pk system, p phenotype], 111400 (3)
ACO2 Infantile cerebellar-retinal degeneration, 614559 (3)
?Optic atrophy 9, 616289 (3)
ALG12 Congenital disorder of glycosylation, type Ig, 607143 (3)
APOL1 {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3)
{End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)
APOL2 {Schizophrenia}, 181500 (1)
APOL4 {Schizophrenia}, 181500 (1)
BCR Leukemia, acute lymphocytic, somatic, 613065 (3)
Leukemia, chronic myeloid, somatic, 608232 (3)
CHCHD10 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3)
?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3)
Spinal muscular atrophy, Jokela type, 615048 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CRYBA4 Cataract 23, 610425 (3)
CRYBB3 Cataract 22, 609741 (3)
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
FBLN1 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
FBXO7 Parkinson disease 15, autosomal recessive, 260300 (3)
HPS4 Hermansky-Pudlak syndrome 4, 614073 (3)
IL17RA Immunodeficiency 51, 613953 (3)
KCTD17 Dystonia 26, myoclonic, 616398 (3)
LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3)
LZTR1 {Schwannomatosis-2, susceptibility to}, 615670 (3)
Noonan syndrome 10, 616564 (3)
Noonan syndrome 2, 605275 (3)
MCM5 ?Meier-Gorlin syndrome 8, 617564 (3)
MKL1 Megakaryoblastic leukemia, acute (3)
MLC1 Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
MYH9 Deafness, autosomal dominant 17, 603622 (3)
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)
MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)
NAGA Kanzaki disease, 609242 (3)
Schindler disease, type I, 609241 (3)
Schindler disease, type III, 609241 (3)
NCF4 ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
NDUFA6 Mitochondrial complex I deficiency, nuclear type 33, 618253 (3)
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3)
?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PRODH Hyperprolinemia, type I, 239500 (3)
{Schizophrenia, susceptibility to, 4}, 600850 (3)
RAC2 Neutrophil immunodeficiency syndrome, 608203 (3)
SBF1 Charcot-Marie-Tooth disease, type 4B3, 615284 (3)
SCO2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Myopia 6, 608908 (3)
SHANK3 {Schizophrenia 15}, 613950 (3)
Phelan-McDermid syndrome, 606232 (3)
SLC5A1 Glucose/galactose malabsorption, 606824 (3)
SMARCB1 Coffin-Siris syndrome 3, 614608 (3)
{Rhabdoid tumor predisposition syndrome 1}, 609322 (3)
{Schwannomatosis-1, susceptibility to}, 162091 (3)
Rhabdoid tumors, somatic, 609322 (3)
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
SPECC1L Hypertelorism, Teebi type, 145420 (3)
?Facial clefting, oblique, 1, 600251 (3)
Opitz GBBB syndrome, type II, 145410 (3)
TBX1 Conotruncal anomaly face syndrome, 217095 (3)
DiGeorge syndrome, 188400 (3)
Tetralogy of Fallot, 187500 (3)
Velocardiofacial syndrome, 192430 (3)
TCN2 Transcobalamin II deficiency, 275350 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
TUBA8 Cortical dysplasia, complex, with other brain malformations 8, 613180 (3)
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
TXNRD2 ?Glucocorticoid deficiency 5, 617825 (3)
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
UPB1 Beta-ureidopropionase deficiency, 613161 (3)
USP18 Pseudo-TORCH syndrome 2, 617397 (3)
XBP1 {Major affective disorder-7, susceptibility to}, 612371 (3)

Genes at Clinical Genomics Database

A4GALT, ACO2, ALG12, BCR, CECR1, CHCHD10, COMT, CRYBA4, CRYBB3, CSF2RB, CYP2D6, EP300, FBLN1, FBXO7, HPS4, IL17RA, KCTD17, LARGE, LZTR1, MLC1, MYH9, MYO18B, NAGA, NCF4, NEFH, PRODH, RAC2, SBF1, SCO2, SERPIND1, SHANK3, SLC5A1, SMARCB1, SNAP29, SPECC1L, TBX1, TCN2, TRIOBP, TUBA8, TUBGCP6, TYMP, UPB1, UPK3A,
A4GALT Blood group, P system
ACO2 Infantile cerebellar-retinal degeneration
Optic atrophy 9
ALG12 Congenital disorder of glycosylation, type Ig
BCR CML treatment, response to
CECR1 Polyarteritis nodosa, childhood-onset (ADA2 deficiency)
Sneddon syndrome
CHCHD10 Myopathy, isolated mitochondrial, autosomal dominant
COMT Medication response, association with
CRYBA4 Cataract 23
CRYBB3 Cataract, congenital nuclear, autosomal recessive, 2
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5
CYP2D6 Drug metabolism, CYP2CD6-related
EP300 Rubinstein-Taybi syndrome 2
FBLN1 Synpolydactyly 2
FBXO7 Parkinson disease 15, autosomal recessive
HPS4 Hermansky-Pudlak syndrome 4
IL17RA Candiasis, familial, 5
KCTD17 Dystonia 26, myoclonic
LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
LZTR1 Schwannomatosis 2
Noonan syndrome 10
MLC1 Megalencephalic leukoencephalopathy with subcortical cysts
MYH9 Sebastian syndrome
May-Hegglin anomaly
Fechtner syndrome
Epstein syndrome
Macrothrombocytopenia and progressive sensorineural deafness
MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
NAGA Kanzaki disease
Alpha-n-acetylgalactosaminidase deficiency
Schindler disease type I
Schindler disease type III
NCF4 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC
PRODH Hyperprolinemia, type I
RAC2 Neutrophil immunodeficiency syndrome
SBF1 Charcot-Marie-Tooth disease, type 4B3
SCO2 Myopia 6
Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Hypertrophic cardiomyopathy
SERPIND1 Heparin cofactor II deficiency
SHANK3 Phelan-McDermid syndrome
Schizophrenia
SLC5A1 Glucose/galactose malabsorption
SMARCB1 Schwannomatosis
Rhabdoid tumor predisposition syndrome
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome)
SPECC1L Facial clefting, oblique, 1
Opitz GBBB syndrome, type II
TBX1 Conotruncal anomaly face syndrome
Tetralogy of Fallot
TCN2 Transcobalamin II deficiency
TRIOBP Deafness, autosomal recessive 28
TUBA8 Polymicrogyria with optic nerve hypoplasia
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive 1
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type)
UPB1 Beta-ureidopropionase deficiency
UPK3A Renal/urogenital adysplasia

Genes at HGMD

Summary

Number of Variants: 868
Number of Genes: 212

Export to: CSV

A4GALT

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 sp16_multisample SP16_819 22 rs6002904
dbSNP Clinvar
43089055 276.26 G C PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.69529 0.69530 0.34674 None None None None None None A4GALT|0.02220674|73.08%

ACO2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_819 22 rs1799932
dbSNP Clinvar
41911525 310.85 C T PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.27037 0.27040 0.38375 None None None None None None ACO2|0.657906877|9.8%
View sp16_multisample SP16_819 22 rs137831
dbSNP Clinvar
41903813 170.46 A C PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.41833 0.41830 0.25796 None None None None None None ACO2|0.657906877|9.8%

AIFM3

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 sp16_multisample SP16_819 22 rs178269
dbSNP Clinvar
21331043 769.99 A T PASS 1/1 96 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None AIFM3|0.183569407|38.59%
View sp16_multisample SP16_819 22 rs178264
dbSNP Clinvar
21327589 53.41 C T PASS 0/1 18 None None None 0.21805 0.21810 0.12993 0.44 0.80 None None None None None None AIFM3|0.183569407|38.59%

ALG12

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 sp16_multisample SP16_819 22 rs1321
dbSNP Clinvar
50297435 546.01 T C PASS 0/1 121 None None None 0.40216 0.40220 0.38093 0.00 None None None None None None ALG12|0.005312033|85.41%
View sp16_multisample SP16_819 22 rs3922872
dbSNP Clinvar
50297888 117.31 T C PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.09165 0.09165 0.09134 0.85 None None None None None None ALG12|0.005312033|85.41%
View sp16_multisample SP16_819 22 rs8135963
dbSNP Clinvar
50301476 358.81 T C PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.40216 0.40220 0.38336 None None None None None None ALG12|0.005312033|85.41%

AP1B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_819 22 rs174765
dbSNP Clinvar
29727866 140.58 C T PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.53195 0.53190 0.48370 None None None None None None AP1B1|0.336808042|25.03%
View sp16_multisample SP16_819 22 rs2857465
dbSNP Clinvar
29727886 343.64 T C PASS 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.00008 1.00 0.00 None None None None None None AP1B1|0.336808042|25.03%
View sp16_multisample SP16_819 22 rs2072051
dbSNP Clinvar
29755888 935.11 T C PASS 1/1 195 SYNONYMOUS_CODING LOW None 0.66893 0.66890 0.35760 None None None None None None AP1B1|0.336808042|25.03%

APOBEC3B

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 sp16_multisample SP16_819 22 rs2076109
dbSNP Clinvar
39381826 1027.15 A G PASS 1/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.64117 0.64120 0.39427 0.77 0.00 None None None None None None APOBEC3B|0.000325736|99.32%
View sp16_multisample SP16_819 22 rs5995649
dbSNP Clinvar
39382079 1362.25 C A PASS 1/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.94968 0.94970 0.04888 1.00 0.00 None None None None None None APOBEC3B|0.000325736|99.32%
View sp16_multisample SP16_819 22 rs1065184
dbSNP Clinvar
39387558 174.6 C T PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.48365 None None None None None None APOBEC3B|0.000325736|99.32%
View sp16_multisample SP16_819 22 rs2076111
dbSNP Clinvar
39381999 890.15 T C PASS 1/1 78 SYNONYMOUS_CODING LOW None None None None None None None APOBEC3B|0.000325736|99.32%
View sp16_multisample SP16_819 22 . 39380097 21.72 T G PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.86 None None None None None None APOBEC3B|0.000325736|99.32%

APOBEC3F

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_819 22 rs2020390
dbSNP Clinvar
39441096 809.16 G T PASS 0/1 199 NON_SYNONYMOUS_CODING MODERATE None 0.53375 0.53370 0.15 1.00 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%
View sp16_multisample SP16_819 22 rs4821862
dbSNP Clinvar
39441203 629.98 C T PASS 0/1 128 SYNONYMOUS_CODING LOW None 0.59345 0.59350 0.46363 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%
View sp16_multisample SP16_819 22 rs2076101
dbSNP Clinvar
39445554 830.44 G A PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.49541 0.49540 0.43426 0.16 0.90 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%

APOBEC3G

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 sp16_multisample SP16_819 22 rs5757465
dbSNP Clinvar
39477123 614.99 T C PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.28455 0.28450 0.31755 None None None None None None APOBEC3G|0.000537592|98.25%

APOBEC3H

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_819 22 rs139299
dbSNP Clinvar
39497454 130.15 G C PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.52975 0.52980 0.42365 0.04 0.40 None None None None None None APOBEC3H|0.000715686|97.18%
View sp16_multisample SP16_819 22 rs139298
dbSNP Clinvar
39497452 131.4 A G PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.52975 0.52980 0.42496 1.00 0.01 None None None None None None APOBEC3H|0.000715686|97.18%
View sp16_multisample SP16_819 22 rs139293
dbSNP Clinvar
39496336 312.41 G T PASS 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.20168 0.20170 0.20898 0.02 0.49 None None None None None None APOBEC3H|0.000715686|97.18%
View sp16_multisample SP16_819 22 rs139300
dbSNP Clinvar
39497509 451.65 A G PASS 1/1 42 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None APOBEC3H|0.000715686|97.18%
View sp16_multisample SP16_819 22 rs139294
dbSNP Clinvar
39496412 228.58 G C PASS 0/1 123 SYNONYMOUS_CODING LOW None 0.51478 0.51480 0.43995 None None None None None None APOBEC3H|0.000715686|97.18%
View sp16_multisample SP16_819 22 rs139297
dbSNP Clinvar
39497404 140.77 G C PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.52476 0.52480 0.42050 1.00 0.00 None None None None None None APOBEC3H|0.000715686|97.18%
View sp16_multisample SP16_819 22 rs140936762,rs201177427,rs139292
dbSNP Clinvar
39496322 70.73 TAAC T PASS 0/1 124 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%

APOL1

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 sp16_multisample SP16_819 22 rs136175
dbSNP Clinvar
36661566 2047.26 G A PASS 0/1 299 NON_SYNONYMOUS_CODING MODERATE None 0.86422 0.86420 0.15308 0.04 0.00 None None None None None None APOL1|0.000329557|99.31%
View sp16_multisample SP16_819 22 rs2239785
dbSNP Clinvar
36661330 225.7 G A PASS 0/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.67812 0.67810 0.34715 0.16 0.89 None None None None None None APOL1|0.000329557|99.31%
View sp16_multisample SP16_819 22 rs136174
dbSNP Clinvar
36661536 1071.33 C A PASS 0/1 137 SYNONYMOUS_CODING LOW None 0.86422 0.86420 0.15324 None None None None None None APOL1|0.000329557|99.31%
View sp16_multisample SP16_819 22 rs136177
dbSNP Clinvar
36661842 904.66 G A PASS 0/1 153 SYNONYMOUS_CODING LOW None 0.85324 0.85320 0.16023 None None None None None None APOL1|0.000329557|99.31%
View sp16_multisample SP16_819 22 rs136176
dbSNP Clinvar
36661646 960.79 G A PASS 0/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.86262 0.86260 0.15101 1.00 0.00 None None None None None None APOL1|0.000329557|99.31%
View sp16_multisample SP16_819 22 rs9610468
dbSNP Clinvar
36650956 187.24 G A PASS 0/1 99 None None None 0.09105 0.09105 0.14885 None None None None None None APOL1|0.000329557|99.31%

APOL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_819 22 rs132760
dbSNP Clinvar
36623731 300.83 T C PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.66 0.00 None None None None None None APOL2|0.000262519|99.56%

APOL3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_819 22 rs132618
dbSNP Clinvar
36537500 352.49 A T PASS 0/1 168 SYNONYMOUS_CODING LOW None 0.36262 0.36260 0.36506 None None None None None None APOL3|0.000202491|99.75%
View sp16_multisample SP16_819 22 rs132653
dbSNP Clinvar
36556823 66.5 G T PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.78474 0.78470 0.28410 0.31 None None None None None None APOL3|0.000202491|99.75%

APOL4

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 sp16_multisample SP16_819 22 rs6000174
dbSNP Clinvar
36587279 241.02 A G PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.64697 0.64700 0.44084 None None None None None None APOL4|0.000586223|97.99%
View sp16_multisample SP16_819 22 rs132700
dbSNP Clinvar
36587704 286.41 T C PASS 0/1 186 NON_SYNONYMOUS_CODING MODERATE None 0.29812 0.29810 0.31358 0.24 0.00 None None None None None None APOL4|0.000586223|97.99%
View sp16_multisample SP16_819 22 rs5845253,rs3075364
dbSNP Clinvar
36587845 98.85 A ACT PASS 0/1 188 None None None 0.67572 0.67570 0.40732 None None None None None None APOL4|0.000586223|97.99%
View sp16_multisample SP16_819 22 rs2227167
dbSNP Clinvar
36587486 260.18 A G PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.64736 0.64740 0.44397 None None None None None None APOL4|0.000586223|97.99%
View sp16_multisample SP16_819 22 rs6000181
dbSNP Clinvar
36598081 116.02 A T PASS 0/1 49 START_LOST HIGH None 0.07668 0.07668 0.08435 0.00 0.40 None None None None None None APOL4|0.000586223|97.99%
View sp16_multisample SP16_819 22 rs6000173
dbSNP Clinvar
36587223 265.59 G T PASS 0/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.64717 0.64720 0.44378 0.00 0.66 None None None None None None APOL4|0.000586223|97.99%
View sp16_multisample SP16_819 22 rs2227168
dbSNP Clinvar
36587511 278.56 C T PASS 0/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.65316 0.65320 0.44114 0.58 0.00 None None None None None None APOL4|0.000586223|97.99%
View sp16_multisample SP16_819 22 rs6000172
dbSNP Clinvar
36587202 301.43 G A PASS 0/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.64697 0.64700 0.44227 0.00 0.02 None None None None None None APOL4|0.000586223|97.99%
View sp16_multisample SP16_819 22 rs132736
dbSNP Clinvar
36598058 103.94 T C PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.62121 0.62120 0.47593 1.00 0.00 None None None None None None APOL4|0.000586223|97.99%
View sp16_multisample SP16_819 22 rs80587
dbSNP Clinvar
36598049 110.25 C G PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.62101 0.62100 0.47578 1.00 0.00 None None None None None None APOL4|0.000586223|97.99%
View sp16_multisample SP16_819 22 rs2007468
dbSNP Clinvar
36591380 171.34 A G PASS 0/1 97 SYNONYMOUS_CODING LOW None 0.70068 0.70070 0.38713 None None None None None None APOL4|0.000586223|97.99%
View sp16_multisample SP16_819 22 rs2227169
dbSNP Clinvar
36587952 395.52 C T PASS 0/1 203 SYNONYMOUS_CODING LOW None 0.64257 0.64260 0.44647 None None None None None None APOL4|0.000586223|97.99%

APOL5

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 sp16_multisample SP16_819 22 rs2076671
dbSNP Clinvar
36122930 609.33 C T PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.38638 0.38640 0.31316 0.02 0.01 None None None None None None APOL5|0.000570206|98.07%
View sp16_multisample SP16_819 22 rs2076673
dbSNP Clinvar
36124860 732.22 C G PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.36202 0.36200 0.28095 0.00 0.70 None None None None None None APOL5|0.000570206|98.07%

ARFGAP3

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 sp16_multisample SP16_819 22 rs1018448
dbSNP Clinvar
43206950 816.29 A C PASS 0/1 141 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.70188 0.70190 0.34669 0.79 0.00 None None None None None None ARFGAP3|0.023747491|72.32%
View sp16_multisample SP16_819 22 rs1128013
dbSNP Clinvar
43195147 946.87 A G PASS 0/1 120 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.49377 None None None None None None ARFGAP3|0.023747491|72.32%
View sp16_multisample SP16_819 22 rs738535
dbSNP Clinvar
43203137 1012.48 C T PASS 0/1 161 SYNONYMOUS_CODING LOW None 0.31010 0.31010 0.41727 None None None None None None ARFGAP3|0.023747491|72.32%

ARHGAP8

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 sp16_multisample SP16_819 22 rs2071762
dbSNP Clinvar
45258324 260.34 C T PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.22504 0.22500 0.14178 0.40 0.02 None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%
View sp16_multisample SP16_819 22 rs2239813
dbSNP Clinvar
45198009 350.57 A G PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.63878 0.63880 0.45510 None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%
View sp16_multisample SP16_819 22 rs2269543
dbSNP Clinvar
45244930 61.11 C T PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.36721 0.36720 0.36007 None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%
View sp16_multisample SP16_819 22 rs6007344
dbSNP Clinvar
45255637 25.51 G C PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.26857 0.26860 0.21644 1.00 0.00 None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%

ARVCF

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 sp16_multisample SP16_819 22 rs165815
dbSNP Clinvar
19959473 117.83 C T PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.61681 0.61680 0.26496 1.00 0.00 None None None None None None ARVCF|0.083030294|54.56%
View sp16_multisample SP16_819 22 rs2073747
dbSNP Clinvar
19969075 141.66 A G PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.72145 0.72140 0.19203 None None None None None None ARVCF|0.083030294|54.56%

ASPHD2

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 sp16_multisample SP16_819 22 rs3747128
dbSNP Clinvar
26829914 247.71 T C PASS 0/1 127 SYNONYMOUS_CODING LOW None 0.06470 0.06470 0.13463 None None None None None None ASPHD2|0.0628067|59.13%
View sp16_multisample SP16_819 22 rs11705277
dbSNP Clinvar
26830316 261.46 G A PASS 0/1 132 SYNONYMOUS_CODING LOW None 0.06210 0.06210 0.13463 None None None None None None ASPHD2|0.0628067|59.13%

ATP5L2

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 sp16_multisample SP16_819 22 rs6519327
dbSNP Clinvar
43036245 117.44 G A PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.27276 0.27280 0.13820 None None None None None None CYB5R3|0.035531313|67.3%,ATP5L2|0.004011842|87.02%

BAIAP2L2

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 sp16_multisample SP16_819 22 rs4820313
dbSNP Clinvar
38506509 582.94 A G PASS 1/1 61 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None BAIAP2L2|0.045525826|64.05%

BCL2L13

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 sp16_multisample SP16_819 22 rs4488761
dbSNP Clinvar
18209613 217.87 A G PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.66594 0.66590 0.44756 None None None None None None BCL2L13|0.039355581|65.99%

BCR

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 sp16_multisample SP16_819 22 rs140504
dbSNP Clinvar
23627369 559.79 A G PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.79373 0.79370 0.12264 1.00 0.00 None None None None None None BCR|0.805888971|5.65%

BPIFC

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 sp16_multisample SP16_819 22 rs5998478
dbSNP Clinvar
32811952 206.5 A G PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.62081 0.62080 0.36945 1.00 0.00 None None None None None None BPIFC|0.039473347|65.93%

C1QTNF6

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 sp16_multisample SP16_819 22 rs229527
dbSNP Clinvar
37581485 270.4 C A PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.45008 0.45010 0.39636 0.12 0.77 None None None None None None C1QTNF6|0.040924441|65.44%
View sp16_multisample SP16_819 22 rs229519
dbSNP Clinvar
37578579 326.97 C T PASS 0/1 163 SYNONYMOUS_CODING LOW None 0.46466 0.46470 0.36852 None None None None None None C1QTNF6|0.040924441|65.44%
View sp16_multisample SP16_819 22 rs229526
dbSNP Clinvar
37581422 126.8 G C PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.18910 0.18910 0.23743 0.07 0.06 None None None None None None C1QTNF6|0.040924441|65.44%

C22orf15

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 sp16_multisample SP16_819 22 rs2298375
dbSNP Clinvar
24106448 1444.18 G A PASS 1/1 202 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.07668 0.07668 0.08673 None None None None None None C22orf15|0.003023452|88.6%

C22orf23

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 sp16_multisample SP16_819 22 rs139859
dbSNP Clinvar
38341134 139.2 T C PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.78135 0.78130 0.25258 None None None None None None C22orf23|0.032233114|68.5%

C22orf24

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 sp16_multisample SP16_819 22 rs1984388
dbSNP Clinvar
32334021 291.0 T A PASS 0/1 182 NON_SYNONYMOUS_CODING MODERATE None 0.24760 0.24760 0.18459 1.00 0.00 None None None None None None C22orf24|0.001025322|95.27%

C22orf31

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 sp16_multisample SP16_819 22 rs6005977
dbSNP Clinvar
29456733 1518.03 T C PASS 1/1 166 SYNONYMOUS_CODING LOW None 0.48383 0.48380 0.39643 None None None None None None C22orf31|0.139645339|44.46%

C22orf42

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 sp16_multisample SP16_819 22 rs5998267
dbSNP Clinvar
32554985 414.27 A G PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.58247 0.58250 0.42511 0.92 0.00 None None None None None None C22orf42|0.000624238|97.75%

C22orf46

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 sp16_multisample SP16_819 22 rs739134
dbSNP Clinvar
42089623 1978.89 T C PASS 0/1 312 NON_SYNONYMOUS_CODING MODERATE None 0.79573 0.79570 0.16623 0.10 0.93 None None None None None None C22orf46|0.003869223|87.2%

CABIN1

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 sp16_multisample SP16_819 22 rs762273
dbSNP Clinvar
24459438 443.58 T C PASS 1/1 76 SYNONYMOUS_CODING LOW None 0.93231 0.93230 0.04475 None None None None None None CABIN1|0.222656185|34.11%

CACNA1I

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 sp16_multisample SP16_819 22 rs3747178
dbSNP Clinvar
39966856 380.83 C T PASS 0/1 138 SYNONYMOUS_CODING LOW None 0.32887 0.32890 0.23073 None None None None None None CACNA1I|0.07260748|56.88%

CARD10

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 sp16_multisample SP16_819 22 rs3817805
dbSNP Clinvar
37900762 378.59 G A PASS 0/1 178 SYNONYMOUS_CODING LOW None 0.13119 0.13120 0.07704 None None None None None None CARD10|0.081670514|54.84%
View sp16_multisample SP16_819 22 rs3817803
dbSNP Clinvar
37900276 44.94 A G PASS 0/1 6 SYNONYMOUS_CODING LOW None 0.13079 0.13080 0.07346 None None None None None None CARD10|0.081670514|54.84%

CCDC116

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 sp16_multisample SP16_819 22 rs730882
dbSNP Clinvar
21989325 69.78 C T PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.05771 0.05771 0.06574 0.06 0.06 None None None None None None CCDC116|0.001199435|94.42%
View sp16_multisample SP16_819 22 rs12170285
dbSNP Clinvar
21988833 235.57 C T PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.06869 0.06869 0.07226 0.05 0.29 None None None None None None CCDC116|0.001199435|94.42%
View sp16_multisample SP16_819 22 rs861852
dbSNP Clinvar
21991072 51.15 T C PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.29752 0.29750 0.32531 0.84 0.00 None None None None None None CCDC116|0.001199435|94.42%

CCDC134

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 sp16_multisample SP16_819 22 rs757867273
dbSNP Clinvar
42209332 55.66 T G PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None CCDC134|0.094977667|52.14%

CCT8L2

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 sp16_multisample SP16_819 22 rs5747988
dbSNP Clinvar
17073066 455.26 A G PASS 1/1 79 SYNONYMOUS_CODING LOW None 0.86921 0.86920 0.06297 None None None None None None None
View sp16_multisample SP16_819 22 rs2236639
dbSNP Clinvar
17072483 117.55 A G PASS 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.87041 0.87040 0.06438 1.00 0.00 None None None None None None None

CECR1

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 sp16_multisample SP16_819 22 rs7289170
dbSNP Clinvar
17662793 520.65 A G PASS 0/1 135 SYNONYMOUS_CODING LOW None 0.19189 0.19190 0.30209 None None None None None None CECR1|0.005555604|85.15%
View sp16_multisample SP16_819 22 rs362129
dbSNP Clinvar
17690409 1063.67 G A PASS 1/1 130 SYNONYMOUS_CODING LOW None 0.31130 0.31130 0.44956 None None None None None None CECR1|0.005555604|85.15%
View sp16_multisample SP16_819 22 rs2231495
dbSNP Clinvar
17669306 419.95 T C PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.36462 0.36460 0.40558 0.05 0.00 None None None None None None CECR1|0.005555604|85.15%

CECR2

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 sp16_multisample SP16_819 22 rs1296794
dbSNP Clinvar
18021604 307.24 C T PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.07628 0.07628 0.14179 0.00 0.09 None None None None None None CECR2|0.038569705|66.27%

CELSR1

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 sp16_multisample SP16_819 22 rs1009154
dbSNP Clinvar
46931793 325.03 G C PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.93990 0.93990 0.08032 None None None None None None CELSR1|0.033878373|67.81%
View sp16_multisample SP16_819 22 rs1009155
dbSNP Clinvar
46931838 61.94 G A PASS 1/1 6 SYNONYMOUS_CODING LOW None 0.88658 0.88660 0.13939 None None None None None None CELSR1|0.033878373|67.81%
View sp16_multisample SP16_819 22 rs7285515
dbSNP Clinvar
46763671 47.68 A G PASS 0/1 12 SYNONYMOUS_CODING LOW None 0.22404 0.22400 0.27629 None None None None None None CELSR1|0.033878373|67.81%
View sp16_multisample SP16_819 22 rs4823561
dbSNP Clinvar
46929692 1982.37 A G PASS 1/1 194 NON_SYNONYMOUS_CODING MODERATE None 0.95288 0.95290 0.06620 1.00 0.00 None None None None None None CELSR1|0.033878373|67.81%
View sp16_multisample SP16_819 22 rs4823850
dbSNP Clinvar
46931077 625.49 G C PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.88898 0.88900 0.13327 0.03 0.06 None None None None None None CELSR1|0.033878373|67.81%

CENPM

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 sp16_multisample SP16_819 22 rs7293091
dbSNP Clinvar
42341308 46.9 A G PASS 0/1 36 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.29593 0.29590 0.26503 None None None None None None CENPM|0.116261975|48.08%

CERK

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 sp16_multisample SP16_819 22 rs12166204
dbSNP Clinvar
47116905 202.9 G A PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.08986 0.08986 0.12594 None None None None None None CERK|0.015511577|76.79%

CHCHD10

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 sp16_multisample SP16_819 22 rs145649831
dbSNP Clinvar
24108321 127.62 A G PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.00054 0.16 0.00 None None None None None None CHCHD10|0.015011656|77.11%

CLDN5

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 sp16_multisample SP16_819 22 rs885985
dbSNP Clinvar
19511925 816.6 G A PASS 1/1 53 STOP_GAINED HIGH None 0.49681 0.49680 None None None None None None CLDN5|0.101200006|50.93%

CLTCL1

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 sp16_multisample SP16_819 22 rs1061325
dbSNP Clinvar
19184095 1368.82 T C PASS 1/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.40355 0.40360 0.41905 0.08 1.00 None None None None None None CLTCL1|0.022666116|72.86%
View sp16_multisample SP16_819 22 rs11386977
dbSNP Clinvar
19189003 362.65 A AC PASS 1/1 69 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00051 None None None None None None CLTCL1|0.022666116|72.86%