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+ Genes 195

Genes:
A4GALT, AC006547.14, AC008132.1, ACO2, ADORA2A, AIFM3, ALG12, AP000350.4, AP1B1, APOBEC3B, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL3, APOL4, ARSA, ARVCF, ASCC2, ATXN10, BAIAP2L2, BCR, C22orf29, CABIN1, CACNA1I, CARD10, CBX7, CCDC157, CCT8L2, CDC45, CELSR1, CENPM, CHADL, CHCHD10, CLTCL1, COMT, CPT1B, CRELD2, CRYBA4, CSF2RB, CYP2D6, CYP2D7P, DENND6B, DESI1, DGCR2, DGCR6, DNAJB7, EFCAB6, ELFN2, EP300, EWSR1, FAM109B, FBLN1, FLJ27365, GAL3ST1, GALR3, GAS2L1, GGT1, GGT5, GRAMD4, GSTT2, GSTT2B, GTSE1, HDAC10, HIC2, HIRA, HMGXB4, HPS4, IGLJ7, IGLL5, IGLV1-51, IGLV2-18, IGLV3-25, IGLV5-48, IGLV7-46, IL17REL, IL2RB, INPP5J, KCNJ4, KIAA1671, KLHDC7B, KLHL22, KREMEN1, L3MBTL2, LARGE, LGALS2, LIMK2, LL22NC03-75H12.2, LMF2, LRP5L, MAPK12, MAPK8IP2, MCHR1, MED15, MEI1, MFNG, MICALL1, MIOX, MMP11, MN1, MTMR3, MYH9, MYO18B, NAGA, NCAPH2, NCF4, NDUFA6, NEFH, NIPSNAP1, NPTXR, NUP50, OSBP2, PATZ1, PES1, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PPIL2, PPP6R2, PRAME, PRODH, PRR14L, PRR5, RAB36, RABL2B, RFPL2, RGL4, RIMBP3, RNF215, RPL3, RRP7A, RTCB, SBF1, SCARF2, SCUBE1, SEC14L3, SEPT5, SERPIND1, SEZ6L, SF3A1, SFI1, SH3BP1, SHANK3, SLC16A8, SLC2A11, SLC5A4, SLC7A4, SMC1B, SMTN, SNAP29, SOX10, SPECC1L, SREBF2, SRRD, SSTR3, SUSD2, SYNGR1, TANGO2, TBX1, TCF20, TCN2, TEF, TEX33, THAP7, TIMP3, TMPRSS6, TNFRSF13C, TNRC6B, TOB2, TRIOBP, TRMT2A, TSPO, TST, TTC28, TTC38, TTLL12, TTLL8, TUBGCP6, TXNRD2, UFD1L, UPB1, UPK3A, VPREB1, WBP2NL, XBP1, XRCC6, YDJC, ZBED4, ZC3H7B, ZDHHC8, ZNF280A, ZNF280B, ZNF74, ZNRF3,

+ Genes associated with diseases 48

Genes at Omim

A4GALT, ACO2, ALG12, APOL1, APOL4, ARSA, ATXN10, BCR, CHCHD10, COMT, CRYBA4, CSF2RB, CYP2D6, DGCR2, EP300, EWSR1, FBLN1, GGT1, HPS4, KREMEN1, LARGE, LGALS2, MN1, MYH9, MYO18B, NAGA, NCF4, NDUFA6, NEFH, PLA2G6, PRODH, SBF1, SCARF2, SHANK3, SNAP29, SOX10, SPECC1L, TANGO2, TBX1, TCN2, TIMP3, TMPRSS6, TNFRSF13C, TRIOBP, TUBGCP6, TXNRD2, UPB1, 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)
APOL4 {Schizophrenia}, 181500 (1)
ARSA Metachromatic leukodystrophy, 250100 (3)
ATXN10 Spinocerebellar ataxia 10, 603516 (3)
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)
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
DGCR2 DiGeorge syndrome/velocardiofacial syndrome complex-2 (2)
EP300 Colorectal cancer, somatic, 114500 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
EWSR1 Ewing sarcoma, 612219 (3)
Neuroepithelioma, 612219 (3)
FBLN1 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
GGT1 ?Glutathioninuria, 231950 (3)
HPS4 Hermansky-Pudlak syndrome 4, 614073 (3)
KREMEN1 Ectodermal dysplasia 13, hair/tooth type, 617392 (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)
LGALS2 {Myocardial infarction, susceptibility to}, 608446 (3)
MN1 Meningioma, 607174 (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)
PLA2G6 Infantile neuroaxonal dystrophy 1, 256600 (3)
Neurodegeneration with brain iron accumulation 2B, 610217 (3)
Parkinson disease 14, autosomal recessive, 612953 (3)
PRODH Hyperprolinemia, type I, 239500 (3)
{Schizophrenia, susceptibility to, 4}, 600850 (3)
SBF1 Charcot-Marie-Tooth disease, type 4B3, 615284 (3)
SCARF2 Van den Ende-Gupta syndrome, 600920 (3)
SHANK3 {Schizophrenia 15}, 613950 (3)
Phelan-McDermid syndrome, 606232 (3)
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
SOX10 PCWH syndrome, 609136 (3)
Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)
Waardenburg syndrome, type 4C, 613266 (3)
SPECC1L Hypertelorism, Teebi type, 145420 (3)
?Facial clefting, oblique, 1, 600251 (3)
Opitz GBBB syndrome, type II, 145410 (3)
TANGO2 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (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)
TIMP3 Sorsby fundus dystrophy, 136900 (3)
TMPRSS6 Iron-refractory iron deficiency anemia, 206200 (3)
TNFRSF13C Immunodeficiency, common variable, 4, 613494 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
TXNRD2 ?Glucocorticoid deficiency 5, 617825 (3)
UPB1 Beta-ureidopropionase deficiency, 613161 (3)
XBP1 {Major affective disorder-7, susceptibility to}, 612371 (3)

Genes at Clinical Genomics Database

A4GALT, ACO2, ALG12, ARSA, ATXN10, BCR, CHCHD10, COMT, CRYBA4, CSF2RB, CYP2D6, DGCR2, EP300, FBLN1, HPS4, LARGE, MN1, MYH9, MYO18B, NAGA, NCF4, NEFH, PLA2G6, PRODH, SBF1, SCARF2, SERPIND1, SHANK3, SNAP29, SOX10, SPECC1L, TANGO2, TBX1, TCN2, TIMP3, TMPRSS6, TNFRSF13C, TRIOBP, TUBGCP6, UPB1, UPK3A,
A4GALT Blood group, P system
ACO2 Infantile cerebellar-retinal degeneration
Optic atrophy 9
ALG12 Congenital disorder of glycosylation, type Ig
ARSA Metachromatic leukodystrophy
ATXN10 Spinocerebellar ataxia 10
BCR CML treatment, response to
CHCHD10 Myopathy, isolated mitochondrial, autosomal dominant
COMT Medication response, association with
CRYBA4 Cataract 23
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5
CYP2D6 Drug metabolism, CYP2CD6-related
DGCR2 Schizophrenia
EP300 Rubinstein-Taybi syndrome 2
FBLN1 Synpolydactyly 2
HPS4 Hermansky-Pudlak syndrome 4
LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
MN1 Meningioma, familial
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
PLA2G6 Parkinson disease 14, autosomal recessive
Neurodegeneration with brain iron accumulation 2A
Neurodegeneration with brain iron accumulation 2B
PRODH Hyperprolinemia, type I
SBF1 Charcot-Marie-Tooth disease, type 4B3
SCARF2 Van den Ende-Gupta syndrome
SERPIND1 Heparin cofactor II deficiency
SHANK3 Phelan-McDermid syndrome
Schizophrenia
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome)
SOX10 Waardenburg syndrome, type 4C
Waardenburg syndrome, type 2E
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Hirschsprung disease, susceptibility to, 10
SPECC1L Facial clefting, oblique, 1
Opitz GBBB syndrome, type II
TANGO2 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN)
TBX1 Conotruncal anomaly face syndrome
Tetralogy of Fallot
TCN2 Transcobalamin II deficiency
TIMP3 Sorsby fundus dystrophy
TMPRSS6 Iron-refractory iron deficiency anemia
TNFRSF13C Immunodeficiency, common variable 4
TRIOBP Deafness, autosomal recessive 28
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive 1
UPB1 Beta-ureidopropionase deficiency
UPK3A Renal/urogenital adysplasia

Genes at HGMD

Summary

Number of Variants: 625
Number of Genes: 195

Export to: CSV

A4GALT
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 15ac02303_s1 genome 22 rs11541159
dbSNP Clinvar 		43089849 1825.8 T C PASS 0/1 173 NON_SYNONYMOUS_CODING MODERATE None 0.35064 0.35060 0.40440 0.26 0.00 None None None None None None A4GALT|0.02220674|73.08%
View 15ac02303_s1 genome 22 rs9623659
dbSNP Clinvar 		43088971 1754.32 C T PASS 0/1 173 SYNONYMOUS_CODING LOW None 0.34904 0.34900 0.40420 None None None None None None A4GALT|0.02220674|73.08%
View 15ac02303_s1 genome 22 rs6002904
dbSNP Clinvar 		43089055 3202.22 G C PASS 0/1 253 SYNONYMOUS_CODING LOW None 0.69529 0.69530 0.34674 None None None None None None A4GALT|0.02220674|73.08%

AC006547.14
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 . 20138355 9.8 A T LowGQ;LowGQX;SB 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.62 None None None None None None None

AC008132.1
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 15ac02303_s1 genome 22 rs746202932
dbSNP Clinvar 		18721554 27.25 T G LowGQX;LowMQ;LowQD;SB 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.14 None None None None None None None
View 15ac02303_s1 genome 22 rs372173398
dbSNP Clinvar 		18721555 48.99 G T LowGQ;LowGQX;LowMQ;LowQD;SB 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.11 1.00 None None None None None None None
View 15ac02303_s1 genome 22 rs367724915
dbSNP Clinvar 		18721564 48.99 C G LowGQ;LowGQX;LowMQ;LowQD;SB 1/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.00 None None None None None None None
View 15ac02303_s1 genome 22 rs200318582
dbSNP Clinvar 		18721561 48.99 A T LowGQ;LowGQX;LowMQ;LowQD;SB 1/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.39 0.01 None None None None None None None

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 15ac02303_s1 genome 22 rs1799932
dbSNP Clinvar 		41911525 3140.84 C T PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.27037 0.27040 0.38375 None None None None None None ACO2|0.657906877|9.8%

ADORA2A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs5751876
dbSNP Clinvar 		24837301 5927.2 T C PASS 1/1 203 SYNONYMOUS_CODING LOW None 0.44229 0.44230 0.48193 None None None None None None ADORA2A|0.246666916|31.87%

AIFM3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 . 21333961 9.8 A G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.04 None None None None None None AIFM3|0.183569407|38.59%,LZTR1|0.235726691|32.82%
View 15ac02303_s1 genome 22 . 21331218 14.91 G T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.21 0.03 None None None None None None AIFM3|0.183569407|38.59%

ALG12
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 15ac02303_s1 genome 22 rs1321
dbSNP Clinvar 		50297435 782.63 T C PASS 0/1 46 None None None 0.40216 0.40220 0.38093 0.00 None None None None None None ALG12|0.005312033|85.41%
View 15ac02303_s1 genome 22 rs8135963
dbSNP Clinvar 		50301476 1549.48 T C PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.40216 0.40220 0.38336 None None None None None None ALG12|0.005312033|85.41%
View 15ac02303_s1 genome 22 rs3922872
dbSNP Clinvar 		50297888 2406.08 T C PASS 0/1 197 NON_SYNONYMOUS_CODING MODERATE None 0.09165 0.09165 0.09134 0.85 None None None None None None ALG12|0.005312033|85.41%

AP000350.4
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 15ac02303_s1 genome 22 rs2070767
dbSNP Clinvar 		24237463 688.02 T C SB 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.77197 0.77200 0.00 None None None None None None None

AP1B1
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 15ac02303_s1 genome 22 . 29747223 14.92 T A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.33 None None None None None None AP1B1|0.336808042|25.03%
View 15ac02303_s1 genome 22 . 29726614 9.3 G A LowGQX 0/1 3 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.37 0.01 None None None None None None AP1B1|0.336808042|25.03%
View 15ac02303_s1 genome 22 . 29735065 4.97 C A LowGQX;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.25 0.01 None None None None None None AP1B1|0.336808042|25.03%

APOBEC3B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs1065184
dbSNP Clinvar 		39387558 2148.97 C T PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.48365 None None None None None None APOBEC3B|0.000325736|99.32%
View 15ac02303_s1 genome 22 rs5757414
dbSNP Clinvar 		39388216 2752.57 T G PASS 1/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.23223 0.23220 0.55 0.00 None None None None None None APOBEC3B|0.000325736|99.32%
View 15ac02303_s1 genome 22 rs5757413
dbSNP Clinvar 		39388207 2962.55 G A PASS 1/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.23203 0.23200 0.50 0.00 None None None None None None APOBEC3B|0.000325736|99.32%
View 15ac02303_s1 genome 22 rs5995649
dbSNP Clinvar 		39382079 6787.73 C A PASS 1/1 240 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 15ac02303_s1 genome 22 rs2076111
dbSNP Clinvar 		39381999 5094.55 T C PASS 1/1 183 SYNONYMOUS_CODING LOW None None None None None None None APOBEC3B|0.000325736|99.32%
View 15ac02303_s1 genome 22 rs2076109
dbSNP Clinvar 		39381826 3573.6 A G PASS 1/1 121 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%

APOBEC3F
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 15ac02303_s1 genome 22 rs2020390
dbSNP Clinvar 		39441096 1853.87 G T PASS 0/1 176 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 15ac02303_s1 genome 22 rs4821862
dbSNP Clinvar 		39441203 2385.04 C T PASS 0/1 184 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%

APOBEC3G
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 15ac02303_s1 genome 22 rs5757465
dbSNP Clinvar 		39477123 1619.79 T C PASS 0/1 135 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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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 . 39496325 177.47 C . PASS 0 67 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%
View 15ac02303_s1 genome 22 rs139293
dbSNP Clinvar 		39496336 1306.51 G T PASS 0/1 127 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 15ac02303_s1 genome 22 rs139294
dbSNP Clinvar 		39496412 1517.49 G C PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.51478 0.51480 0.43995 None None None None None None APOBEC3H|0.000715686|97.18%
View 15ac02303_s1 genome 22 rs139300
dbSNP Clinvar 		39497509 1598.1 A G PASS 1/1 49 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 15ac02303_s1 genome 22 . 39496324 174.47 A . PASS 0 67 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%
View 15ac02303_s1 genome 22 rs139302
dbSNP Clinvar 		39498038 1028.4 G C PASS 0/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.51558 0.51560 0.42911 0.23 0.01 None None None None None None APOBEC3H|0.000715686|97.18%
View 15ac02303_s1 genome 22 rs139298
dbSNP Clinvar 		39497452 925.57 A G PASS 0/1 93 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 15ac02303_s1 genome 22 rs140936762,rs201177427,rs139292
dbSNP Clinvar 		39496322 2327.47 TAAC T PASS 0/1 114 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%
View 15ac02303_s1 genome 22 . 39496323 177.47 A . PASS 0 67 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%
View 15ac02303_s1 genome 22 rs139299
dbSNP Clinvar 		39497454 959.02 G C PASS 0/1 93 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 15ac02303_s1 genome 22 rs139297
dbSNP Clinvar 		39497404 1074.47 G C PASS 0/1 104 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%

APOL1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs41297245
dbSNP Clinvar 		36657740 1414.3 G A PASS 0/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.03015 0.03015 0.04967 0.62 0.03 None None None None None None APOL1|0.000329557|99.31%
View 15ac02303_s1 genome 22 rs136177
dbSNP Clinvar 		36661842 1831.55 G A PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.85324 0.85320 0.16023 None None None None None None APOL1|0.000329557|99.31%
View 15ac02303_s1 genome 22 rs136176
dbSNP Clinvar 		36661646 1347.45 G A PASS 1/1 49 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 15ac02303_s1 genome 22 rs136175
dbSNP Clinvar 		36661566 1693.37 G A PASS 1/1 58 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 15ac02303_s1 genome 22 rs136174
dbSNP Clinvar 		36661536 1611.36 C A PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.86422 0.86420 0.15324 None None None None None None APOL1|0.000329557|99.31%
View 15ac02303_s1 genome 22 rs9610468
dbSNP Clinvar 		36650956 1300.13 G A PASS 0/1 105 None None None 0.09105 0.09105 0.14885 None None None None None None APOL1|0.000329557|99.31%
View 15ac02303_s1 genome 22 rs2239785
dbSNP Clinvar 		36661330 3725.19 G A PASS 1/1 125 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%

APOL3
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs132653
dbSNP Clinvar 		36556823 2848.52 G T PASS 0/1 237 NON_SYNONYMOUS_CODING MODERATE None 0.78474 0.78470 0.28410 0.31 None None None None None None APOL3|0.000202491|99.75%
View 15ac02303_s1 genome 22 rs132618
dbSNP Clinvar 		36537500 5759.3 A T PASS 0/1 370 SYNONYMOUS_CODING LOW None 0.36262 0.36260 0.36506 None None None None None None APOL3|0.000202491|99.75%

APOL4
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs2007468
dbSNP Clinvar 		36591380 603.66 A G PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.70068 0.70070 0.38713 None None None None None None APOL4|0.000586223|97.99%
View 15ac02303_s1 genome 22 rs80587
dbSNP Clinvar 		36598049 1277.17 C G PASS 0/1 90 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 15ac02303_s1 genome 22 rs132736
dbSNP Clinvar 		36598058 1285.47 T C PASS 0/1 91 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%

ARSA
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs743616
dbSNP Clinvar 		51064039 1686.03 G C PASS 0/1 167 NON_SYNONYMOUS_CODING MODERATE None 0.40555 0.40560 0.48408 0.42 0.00 None None None None None None ARSA|0.046995067|63.58%

ARVCF
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs2073747
dbSNP Clinvar 		19969075 8062.14 A G PASS 1/1 257 SYNONYMOUS_CODING LOW None 0.72145 0.72140 0.19203 None None None None None None ARVCF|0.083030294|54.56%
View 15ac02303_s1 genome 22 rs165815
dbSNP Clinvar 		19959473 4088.4 C T PASS 1/1 151 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%

ASCC2
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs7289250
dbSNP Clinvar 		30234218 44.2 A T LowGQ;LowGQX 1/1 2 None None None 0.14697 0.14700 0.00 None None None None None None ASCC2|0.130819121|45.77%
View 15ac02303_s1 genome 22 . 30230497 9.8 C A LowGQ;LowGQX;SB 1/1 1 None None None 0.00 None None None None None None ASCC2|0.130819121|45.77%

ATXN10
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs3827398
dbSNP Clinvar 		46202925 953.41 A G PASS 0/1 89 None None None 0.06510 0.06510 0.09995 None None None None None None ATXN10|0.013184503|78.38%

BAIAP2L2
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs781562796
dbSNP Clinvar 		38505165 7.08 G A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None BAIAP2L2|0.045525826|64.05%

BCR
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs140504
dbSNP Clinvar 		23627369 6978.74 A G PASS 1/1 236 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%
View 15ac02303_s1 genome 22 rs2227939
dbSNP Clinvar 		23631801 1167.23 T C PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.32268 0.32270 0.36883 None None None None None None BCR|0.805888971|5.65%

C22orf29
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 . 19839114 7.08 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.96 None None None None None None GNB1L|0.113554867|48.57%,C22orf29|0.002761272|89.12%
View 15ac02303_s1 genome 22 . 19839710 4.97 A G LowGQX;LowQD;SB 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None GNB1L|0.113554867|48.57%,C22orf29|0.002761272|89.12%

CABIN1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs762273
dbSNP Clinvar 		24459438 3213.33 T C PASS 1/1 123 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs3747178
dbSNP Clinvar 		39966856 14.92 C T LowGQ;LowGQX 1/1 3 SYNONYMOUS_CODING LOW None 0.32887 0.32890 0.23073 None None None None None None CACNA1I|0.07260748|56.88%
View 15ac02303_s1 genome 22 rs2294369
dbSNP Clinvar 		40075400 33.41 G A SB 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.10743 0.10740 0.30 0.96 None None None None None None CACNA1I|0.07260748|56.88%
View 15ac02303_s1 genome 22 rs5757761
dbSNP Clinvar 		40054948 2204.1 T C PASS 0/1 160 SYNONYMOUS_CODING LOW None 0.74840 0.74840 0.37357 None None None None None None CACNA1I|0.07260748|56.88%
View 15ac02303_s1 genome 22 . 40036980 7.08 C A LowGQ;LowGQX;SB 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None CACNA1I|0.07260748|56.88%
View 15ac02303_s1 genome 22 rs59504308
dbSNP Clinvar 		40075341 100.88 C T PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.00759 0.00759 0.01415 0.09 0.73 None None None None None None CACNA1I|0.07260748|56.88%
View 15ac02303_s1 genome 22 . 40037066 4.97 C A LowGQX;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.18 0.35 None None None None None None CACNA1I|0.07260748|56.88%

CARD10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 . 37891817 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.85 None None None None None None CARD10|0.081670514|54.84%

CBX7
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 . 39529986 14.92 C A LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None CBX7|0.203538064|36.28%

CCDC157
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs2015035
dbSNP Clinvar 		30771554 9.8 T G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.98642 0.98640 0.03614 1.00 0.00 None None None None None None CCDC157|0.031379719|68.85%
View 15ac02303_s1 genome 22 rs740223
dbSNP Clinvar 		30762140 9.8 G A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.15915 0.15910 0.22074 0.00 0.99 None None None None None None CCDC157|0.031379719|68.85%

CCT8L2
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs5747988
dbSNP Clinvar 		17073066 9.8 A G LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.86921 0.86920 0.06297 None None None None None None None

CDC45
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 . 19502288 7.08 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.93 None None None None None None CDC45|0.703453878|8.4%

CELSR1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs1009155
dbSNP Clinvar 		46931838 3513.9 G A PASS 0/1 286 SYNONYMOUS_CODING LOW None 0.88658 0.88660 0.13939 None None None None None None CELSR1|0.033878373|67.81%
View 15ac02303_s1 genome 22 rs4823561
dbSNP Clinvar 		46929692 2706.3 A G PASS 0/1 218 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 15ac02303_s1 genome 22 rs4823850
dbSNP Clinvar 		46931077 4378.37 G C PASS 0/1 281 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%
View 15ac02303_s1 genome 22 rs1009154
dbSNP Clinvar 		46931793 3967.37 G C PASS 0/1 258 SYNONYMOUS_CODING LOW None 0.93990 0.93990 0.08032 None None None None None None CELSR1|0.033878373|67.81%

CENPM
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs7293091
dbSNP Clinvar 		42341308 9.8 A G LowGQ;LowGQX;SB 1/1 1 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.29593 0.29590 0.26503 None None None None None None CENPM|0.116261975|48.08%

CHADL
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 . 41634530 9.8 C A LowGQ;LowGQX;SB 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None CHADL|0.012721263|78.7%
View 15ac02303_s1 genome 22 . 41635601 7.08 G C LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.32 0.01 None None None None None None CHADL|0.012721263|78.7%

CHCHD10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs9153
dbSNP Clinvar 		24108412 14.92 G A LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None 0.72983 0.72980 0.19499 None None None None None None CHCHD10|0.015011656|77.11%

CLTCL1
Omim - GeneCards - NCBI
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 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs698423
dbSNP Clinvar 		19197896 6577.46 T C PASS 1/1 254 SYNONYMOUS_CODING LOW None 0.84804 0.84800 0.26837 None None None None None None CLTCL1|0.022666116|72.86%
View 15ac02303_s1 genome 22 rs11386977
dbSNP Clinvar 		19189003 6882.73 A AC PASS 1/1 166 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00051 None None None None None None CLTCL1|0.022666116|72.86%
View 15ac02303_s1 genome 22 rs1061325
dbSNP Clinvar 		19184095 622.49 T C PASS 0/1 62 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 15ac02303_s1 genome 22 rs34869740
dbSNP Clinvar 		19263266 2687.29 C A PASS 0/1 207 NON_SYNONYMOUS_CODING MODERATE None 0.00899 0.00899 0.00597 0.03 0.56 None None None None None None CLTCL1|0.022666116|72.86%
View 15ac02303_s1 genome 22 rs782211864
dbSNP Clinvar 		19212985 2358.7 T C PASS 0/1 181 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None CLTCL1|0.022666116|72.86%
View 15ac02303_s1 genome 22 rs117542241
dbSNP Clinvar 		19198017 1832.54 T A PASS 0/1 158 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00839 0.00839 0.02691 0.00 0.97 None None None None None None CLTCL1|0.022666116|72.86%

COMT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs4633
dbSNP Clinvar 		19950235 6319.45 C T PASS 0/1 476 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.37161 0.37160 0.46009 None None None None None None COMT|0.166055932|40.8%
View 15ac02303_s1 genome 22 rs4818
dbSNP Clinvar 		19951207 1440.87 C G PASS 0/1 123 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.29693 0.29690 0.32754 None None None None None None COMT|0.166055932|40.8%
View 15ac02303_s1 genome 22 rs4680
dbSNP Clinvar 		19951271 1395.28 G A PASS 0/1 111 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.36921 0.36920 0.45148 0.09 0.22 None None None None None None COMT|0.166055932|40.8%

CPT1B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs470117
dbSNP Clinvar 		51009953 252.7 C T SB 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.33486 0.33490 0.35553 0.13 0.02 None None None None None None CPT1B|0.130470073|45.82%

CRELD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 . 50316889 14.92 C A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.98 None None None None None None CRELD2|0.006398743|84.19%

CRYBA4
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 15ac02303_s1 genome 22 rs5761637
dbSNP Clinvar 		27021457 3439.84 T C PASS 0/1 261 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.92372 0.92370 0.12663 None None None None None None CRYBA4|0.095204311|52.06%

CSF2RB
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 15ac02303_s1 genome 22 rs1801122
dbSNP Clinvar 		37333657 1090.46 C A PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.01078 0.01078 0.02590 0.03 0.73 None None None None None None CSF2RB|0.002608786|89.46%
View 15ac02303_s1 genome 22 rs131840
dbSNP Clinvar 		37333794 6499.38 A G PASS 1/1 200 SYNONYMOUS_CODING LOW None 0.80232 0.80230 0.23843 None None None None None None CSF2RB|0.002608786|89.46%

CYP2D6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 15ac02303_s1 genome 22 rs1135840
dbSNP Clinvar 		42522613 1675.45 G C PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.40116 0.40120 0.40832 0.87 0.03 None None None None None None CYP2D6|0.040319287|65.66%
View 15ac02303_s1 genome 22 rs28371713
dbSNP Clinvar 		42524795 1465.41 A G PASS 0/1 341 SYNONYMOUS_CODING LOW None None None None None None None CYP2D6|0.040319287|65.66%
View 15ac02303_s1 genome 22 rs16947
dbSNP Clinvar 		42523943 1653.23 A G PASS 0/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.64078 0.64080 0.40045 0.44 0.00 None None None None None None CYP2D6|0.040319287|65.66%