+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

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

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

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

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

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

+ Genes 163

+ Genes associated with diseases 92

Genes at Omim

ABCA7, ACTN4, ADAMTS10, AMH, APOE, ATP1A3, B9D2, BCKDHA, BLOC1S3, BSG, C19orf12, C3, CACNA1A, CC2D1A, CCDC8, CD209, CD320, CEACAM16, CIC, CLEC4M, CRLF1, CYP2A6, CYP2B6, CYP4F22, DLL3, DMPK, DNAAF3, DNM2, DNMT1, DOCK6, ELANE, ERCC1, ERCC2, ETFB, FTL, FUT2, FUT3, GCDH, GIPC3, GIPR, GP6, ICAM1, IFNL3, INSL3, INSR, JAK3, KIR3DL1, KISS1R, KLK1, KLK4, LDLR, LHB, LMNB2, LTBP4, MAP2K2, MCOLN1, MYH14, MYO9B, NDUFA11, NDUFS7, NLRP12, NOTCH3, NPHS1, NTF4, NUP62, OPA3, PEPD, PIK3R2, PIP5K1C, PPP2R1A, PRKCG, PRKCSH, PRX, RGS9BP, RYR1, SARS2, SCN1B, SDHAF1, SIX5, SLC5A5, SLC7A9, SMARCA4, STXBP2, SULT2B1, TBXA2R, TGFB1, TICAM1, TNNT1, TRPM4, TSEN34, WDR62, XRCC1,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ADAMTS10 Weill-Marchesani syndrome 1, recessive, 277600 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
APOE Alzheimer disease-2, 104310 (3)
Hyperlipoproteinemia, type III, 617347 (3)
Lipoprotein glomerulopathy, 611771 (3)
Sea-blue histiocyte disease, 269600 (3)
{?Macular degeneration, age-related}, 603075 (3)
{Coronary artery disease, severe, susceptibility to}, 617347 (3)
ATP1A3 Alternating hemiplegia of childhood 2, 614820 (3)
CAPOS syndrome, 601338 (3)
Dystonia-12, 128235 (3)
B9D2 Joubert syndrome 34, 614175 (3)
?Meckel syndrome 10, 614175 (3)
BCKDHA Maple syrup urine disease, type Ia, 248600 (3)
BLOC1S3 Hermansky-Pudlak syndrome 8, 614077 (3)
BSG [Blood group, OK], 111380 (3)
C19orf12 Neurodegeneration with brain iron accumulation 4, 614298 (3)
?Spastic paraplegia 43, autosomal recessive, 615043 (3)
C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
C3 deficiency, 613779 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CC2D1A Mental retardation, autosomal recessive 3, 608443 (3)
CCDC8 3-M syndrome 3, 614205 (3)
CD209 {HIV type 1, susceptibility to}, 609423 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
{Dengue fever, protection against}, 614371 (3)
CD320 Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (3)
CEACAM16 Deafness, autosomal dominant 4B, 614614 (3)
CIC Mental retardation, autosomal dominant 45, 617600 (3)
CLEC4M SARS infection, protection against (2)
CRLF1 Cold-induced sweating syndrome 1, 272430 (3)
CYP2A6 {Lung cancer, resistance to}, 211980 (3)
Coumarin resistance, 122700 (3)
{Nicotine addiction, protection from}, 188890 (3)
CYP2B6 Efavirenz, poor metabolism of, 614546 (3)
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
CYP4F22 Ichthyosis, congenital, autosomal recessive 5, 604777 (3)
DLL3 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DMPK Myotonic dystrophy 1, 160900 (3)
DNAAF3 Ciliary dyskinesia, primary, 2, 606763 (3)
DNM2 Centronuclear myopathy 1, 160150 (3)
Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3)
Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3)
Lethal congenital contracture syndrome 5, 615368 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
DOCK6 Adams-Oliver syndrome 2, 614219 (3)
ELANE Neutropenia, cyclic, 162800 (3)
Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
ERCC2 ?Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Trichothiodystrophy 1, photosensitive, 601675 (3)
Xeroderma pigmentosum, group D, 278730 (3)
ETFB Glutaric acidemia IIB, 231680 (3)
FTL Hyperferritinemia-cataract syndrome, 600886 (3)
L-ferritin deficiency, dominant and recessive, 615604 (3)
Neurodegeneration with brain iron accumulation 3, 606159 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
FUT3 [Blood group, Lewis] (3)
GCDH Glutaricaciduria, type I, 231670 (3)
GIPC3 Deafness, autosomal recessive 15, 601869 (3)
GIPR [Plasma glucose, 2-hour, QTL 2] (2)
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)
ICAM1 {Malaria, cerebral, susceptibility to}, 611162 (3)
IFNL3 {Hepatitis C virus infection, response to therapy of}, 609532 (3)
INSL3 Cryptorchidism, 219050 (3)
INSR Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)
Leprechaunism, 246200 (3)
Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)
Rabson-Mendenhall syndrome, 262190 (3)
JAK3 SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
KIR3DL1 {AIDS, delayed/rapid progression to}, 609423 (3)
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3)
?Precocious puberty, central, 1, 176400 (3)
KLK1 [Kallikrein, decreased urinary activity of], 615953 (3)
KLK4 Amelogenesis imperfecta, type IIA1, 204700 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LHB Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3)
LMNB2 {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
?Epilepsy, progressive myoclonic, 9, 616540 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAP2K2 Cardiofaciocutaneous syndrome 4, 615280 (3)
MCOLN1 Mucolipidosis IV, 252650 (3)
MYH14 Deafness, autosomal dominant 4A, 600652 (3)
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NDUFA11 Mitochondrial complex I deficiency, nuclear type 14, 618236 (3)
NDUFS7 Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)
NLRP12 Familial cold autoinflammatory syndrome 2, 611762 (3)
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)
Lateral meningocele syndrome, 130720 (3)
?Myofibromatosis, infantile 2, 615293 (3)
NPHS1 Nephrotic syndrome, type 1, 256300 (3)
NTF4 Glaucoma 1, open angle, 1O, 613100 (3)
NUP62 Striatonigral degeneration, infantile, 271930 (3)
OPA3 Optic atrophy 3 with cataract, 165300 (3)
3-methylglutaconic aciduria, type III, 258501 (3)
PEPD Prolidase deficiency, 170100 (3)
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PIP5K1C Lethal congenital contractural syndrome 3, 611369 (3)
PPP2R1A Mental retardation, autosomal dominant 36, 616362 (3)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
PRKCSH Polycystic liver disease 1, 174050 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (3)
RGS9BP Bradyopsia, 608415 (3)
RYR1 Central core disease, 117000 (3)
{Malignant hyperthermia susceptibility 1}, 145600 (3)
King-Denborough syndrome, 145600 (3)
Minicore myopathy with external ophthalmoplegia, 255320 (3)
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (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)
Epileptic encephalopathy, early infantile, 52, 617350 (3)
SDHAF1 Mitochondrial complex II deficiency, 252011 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SLC5A5 Thyroid dyshormonogenesis 1, 274400 (3)
SLC7A9 Cystinuria, 220100 (3)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
STXBP2 Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
SULT2B1 Ichthyosis, congenital, autosomal recessive 14, 617571 (3)
TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TGFB1 Camurati-Engelmann disease, 131300 (3)
Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3)
{Cystic fibrosis lung disease, modifier of}, 219700 (3)
TICAM1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
TNNT1 Nemaline myopathy 5, Amish type, 605355 (3)
TRPM4 Progressive familial heart block, type IB, 604559 (3)
TSEN34 ?Pontocerebellar hypoplasia type 2C, 612390 (3)
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
XRCC1 ?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3)

Genes at Clinical Genomics Database

ACTN4, ADAMTS10, AMH, APOE, ATP1A3, B9D2, BCKDHA, BLOC1S3, BSG, C3, CACNA1A, CALR3, CC2D1A, CCDC8, CD320, CEACAM16, CRLF1, CYP2A6, CYP2B6, CYP4F2, CYP4F22, DLL3, DMPK, DNM2, DNMT1, DOCK6, ELANE, ERCC1, ERCC2, ETFB, FTL, FUT3, GCDH, GIPC3, GP6, IFNL3, INSL3, INSR, JAK3, KISS1R, KLK4, LDLR, LHB, LMNB2, LTBP4, MAP2K2, MCOLN1, MYH14, NDUFA11, NDUFS7, NLRP12, NLRP7, NOTCH3, NPHS1, NTF4, NUP62, OPA3, PEPD, PIK3R2, PIP5K1C, PPP2R1A, PRKCG, PRKCSH, PRX, RGS9BP, RYR1, SARS2, SCN1B, SDHAF1, SIX5, SLC5A5, SLC7A9, SMARCA4, STXBP2, TBXA2R, TGFB1, TICAM1, TNNT1, TRPM4, TSEN34, WDR62, ZNF480,
ACTN4 Focal segmental glomerulosclerosis 1
ADAMTS10 Weill-Marchesani syndrome 1
AMH Persistent Mullerian duct syndrome, type I
APOE Dysbetalipoproteinemia, familial (Hyperlipoproteinemia, type III)
Lipoprotein glomerulopathy
Sea-blue histiocyte disease
ATP1A3 Alternating hemiplegia of childhood 2
B9D2 Meckel syndrome 10
BCKDHA Maple syrup urine disease, type Ia
BLOC1S3 Hermansky-Pudlak syndrome 8
BSG Blood group, OK
C3 Complement component 3 deficiency, autosomal recessive
Hemolytic uremic syndrome, atypical, susceptibility to, 5
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CALR3 Cardiomyopathy, familial hypertrophic, 19
CC2D1A Mental retardation, autosomal recessive 3
CCDC8 Three M syndrome 3
CD320 Methylmalonic aciduria due to transcobalamin receptor defect
CEACAM16 Deafness, autosomal dominant 4B
CRLF1 Crisponi syndrome
Cold-induced sweating syndrome, type 1
CYP2A6 CYP2A6-related drug metabolism
CYP2B6 Efavirenz, poor metabolism of
CYP4F2 Warfarin metabolism
CYP4F22 Ichthyosis, congenital, autosomal recessive 5
DLL3 Spondylocostal dysostosis 1, autosomal recessive
DMPK Myotonic dystrophy 1
DNM2 Charcot-Marie-Tooth disease, dominant intermediate B
Charcot-Marie-Tooth disease, axonal, type 2M
Myopathy, centronuclear
Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, autosomal recessive
DNMT1 Neuropathy, hereditary sensory, type IE
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
DOCK6 Adams-Oliver syndrome 2
ELANE Neutropenia, severe congenital 1, autosomal dominant
Neutropenia, cyclic
ERCC1 Cerebrooculofacioskeletal syndrome 4
ERCC2 Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
ETFB Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
FTL L-ferritin deficiency
Neurodegeneration with brain iron accumulation 3
Hyperferritinemia-cataract syndrome
FUT3 Blood group, Lewis
GCDH Glutaric aciduria, type I
GIPC3 Deafness, autosomal recessive 15
GP6 Bleeding disorder, platelet-type, 11
IFNL3 Drug metabolism, IL28B-related
INSL3 Cryptorchidism
INSR Hyperinsulinemic hypoglycemia, familial, 5
Rabson-Mendenhall syndrome
Donohoe syndrome
JAK3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, natural killer cell-negative
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia
KLK4 Amelogenesis imperfecta, type IIA1
LDLR Hypercholesterolemia, familial
LHB Hypogonadotropic hypogonadism 23 with or without anosmia
LMNB2 Liopdystrophy, partial, acquired
Epilepsy, progressive myoclonic, 9
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAP2K2 Cardiofaciocutaneous syndrome
MCOLN1 Mucolipidosis IV
MYH14 Deafness, autosomal dominant 4
Deafness, autosomal dominant 4B
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
NDUFA11 Mitochondrial complex I deficiency
NDUFS7 Mitochondrial complex I deficiency
Leigh syndrome
NLRP12 Familial cold autoinflammatory syndrome 2
NLRP7 Hydatidiform mole, recurrent, 1
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL1)
NPHS1 Nephrotic syndrome, type 1
NTF4 Glaucoma 1, open angle, O
NUP62 Striatonigral degeneration, infantile
OPA3 3-methylglutaconic aciduria, type III
Optic atrophy 3, autosomal dominant
PEPD Prolidase deficiency
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIP5K1C Lethal congenital contractural syndrome 3
PPP2R1A Mental retardation, autosomal dominant 36
PRKCG Spinocerebellar ataxia 14
PRKCSH Polycystic liver disease
PRX Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type 4F
RGS9BP Bradyopsia
RYR1 Malignant hyperthermia, susceptibility 1
Central core disease
Minicore myopathy
Multicore myopathy
Minicore myopathy with external ophthalmoplegia
Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
SCN1B Atrial fibrillation, familial 13
Brugada syndrome 5
SDHAF1 Mitochondrial complex II deficiency
SIX5 Branchiootorenal syndrome 2
SLC5A5 Thyroid dyshormonogenesis 1
SLC7A9 Cystinuria
SMARCA4 Rhabdoid tumor predisposition syndrome 2
STXBP2 Hemophagocytic lymphohistiocytosis, familial 5
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TGFB1 Camurati-Engelmann disease
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TNNT1 Nemaline myopathy 5
TRPM4 Progressive familial heart block, type IB
TSEN34 Pontocerebellar hypoplasia type 2C
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 578
Number of Genes: 163

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 15a02301_s1 genome 19 rs3752243
dbSNP Clinvar 		1054060 4415.05 A G PASS 1/1 147 SYNONYMOUS_CODING LOW None 0.53614 0.53610 0.47355 None None None None None None ABCA7|0.007770288|82.8%
View 15a02301_s1 genome 19 rs3764652
dbSNP Clinvar 		1052005 3919.3 C T PASS 1/1 164 SYNONYMOUS_CODING LOW None 0.37939 0.37940 0.40154 3.32 0.15 0.82802 D None None None None ABCA7|0.007770288|82.8%
View 15a02301_s1 genome 19 rs3752234
dbSNP Clinvar 		1047002 2754.03 A G PASS 0/1 197 SYNONYMOUS_CODING LOW None 0.57887 0.57890 0.46635 None None None None None None ABCA7|0.007770288|82.8%
View 15a02301_s1 genome 19 rs3752237
dbSNP Clinvar 		1047161 1809.44 A G PASS 0/1 176 SYNONYMOUS_CODING LOW None 0.69529 0.69530 0.37591 None None None None None None ABCA7|0.007770288|82.8%
View 15a02301_s1 genome 19 rs4147915
dbSNP Clinvar 		1049305 910.1 C A PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.19988 0.19990 0.13185 None None None None None None ABCA7|0.007770288|82.8%
View 15a02301_s1 genome 19 rs4147934
dbSNP Clinvar 		1065018 1274.72 G T PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.60503 0.60500 0.25026 0.88 0.10 None None None None None None ABCA7|0.007770288|82.8%
View 15a02301_s1 genome 19 rs4147930
dbSNP Clinvar 		1064193 4264.62 G A PASS 1/1 165 SYNONYMOUS_CODING LOW None 0.60643 0.60640 0.29566 None None None None None None ABCA7|0.007770288|82.8%
View 15a02301_s1 genome 19 rs3752246
dbSNP Clinvar 		1056492 3490.72 G C PASS 1/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.82548 0.82550 0.12788 1.00 0.00 1.98 0.05 0.64766 D None None None None ABCA7|0.007770288|82.8%
View 15a02301_s1 genome 19 rs881768
dbSNP Clinvar 		1056065 3657.54 A G PASS 1/1 128 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.44209 0.44210 0.45937 None None None None None None ABCA7|0.007770288|82.8%
View 15a02301_s1 genome 19 rs3745842
dbSNP Clinvar 		1055191 4745.97 G A PASS 1/1 197 NON_SYNONYMOUS_CODING MODERATE None 0.39058 0.39060 0.40647 0.54 0.00 None None None None None None ABCA7|0.007770288|82.8%
View 15a02301_s1 genome 19 rs3764645
dbSNP Clinvar 		1042809 1103.03 A G PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.39956 0.39960 0.38867 0.48 0.00 None None None None None None ABCA7|0.007770288|82.8%

ACTN4
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 15a02301_s1 genome 19 rs1136956
dbSNP Clinvar 		39219780 1033.96 T C PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.18750 0.18750 0.21375 None None None None None None ACTN4|0.387377198|21.58%
View 15a02301_s1 genome 19 rs11553600
dbSNP Clinvar 		39196736 638.19 G A PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.11542 0.11540 0.15316 None None None None None None ACTN4|0.387377198|21.58%
View 15a02301_s1 genome 19 rs3745859
dbSNP Clinvar 		39196745 888.64 C T PASS 0/1 70 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33926 0.33930 0.39236 None None None None None None ACTN4|0.387377198|21.58%

ADAMTS10
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 15a02301_s1 genome 19 rs7255721
dbSNP Clinvar 		8669931 2625.48 G C PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.89397 0.89400 0.21830 1.00 0.00 None None None None None None ADAMTS10|0.099701531|51.23%
View 15a02301_s1 genome 19 rs7252299
dbSNP Clinvar 		8645786 2545.39 A C PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.00015 1.00 0.00 None None None None None None ADAMTS10|0.099701531|51.23%

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 15a02301_s1 genome 19 rs7252789
dbSNP Clinvar 		2251512 311.09 T A LowGQ;LowGQX 1/1 16 SYNONYMOUS_CODING LOW None 0.91893 0.91890 None None None None None None AMH|0.062219269|59.26%
View 15a02301_s1 genome 19 rs10407022
dbSNP Clinvar 		2249477 3180.19 G T PASS 1/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.67592 0.67590 0.26055 0.00 0.07 None None None None None None AMH|0.062219269|59.26%
View 15a02301_s1 genome 19 rs10417628
dbSNP Clinvar 		2251817 2049.26 T C PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.99002 0.99000 0.01798 0.77 0.00 None None None None None None AMH|0.062219269|59.26%

APOC4
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 15a02301_s1 genome 19 rs5167
dbSNP Clinvar 		45448465 2651.1 T G PASS 0/1 275 NON_SYNONYMOUS_CODING MODERATE None 0.43930 0.43930 0.39236 1.00 0.00 None None None None None None APOC4|0.001267277|94.07%,APOC4-APOC2|0.001598854|92.35%
View 15a02301_s1 genome 19 rs1132899
dbSNP Clinvar 		45448036 502.79 T C PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.66434 0.66430 0.41833 0.46 0.00 None None None None None None APOC4|0.001267277|94.07%,APOC4-APOC2|0.001598854|92.35%

APOE
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 15a02301_s1 genome 19 rs429358
dbSNP Clinvar 		45411941 878.41 T C PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.15056 0.15060 0.14163 1.00 0.00 None None None None None None APOE|0.925476831|2.86%

ATF5
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 15a02301_s1 genome 19 rs283525
dbSNP Clinvar 		50435747 640.68 T C PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.66813 0.66810 0.38590 None None None None None None ATF5|0.036517544|66.96%
View 15a02301_s1 genome 19 rs283526
dbSNP Clinvar 		50435862 310.87 C T PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.66853 0.66850 0.35644 0.46 0.00 None None None None None None ATF5|0.036517544|66.96%

ATP1A3
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 15a02301_s1 genome 19 rs2217342
dbSNP Clinvar 		42489516 2547.73 A C PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.90156 0.90160 0.07028 None None None None None None ATP1A3|0.149065263|43.12%
View 15a02301_s1 genome 19 rs45606534
dbSNP Clinvar 		42474392 1189.03 C T PASS 0/1 131 SYNONYMOUS_CODING LOW None 0.00359 0.00359 0.00930 None None None None None None ATP1A3|0.149065263|43.12%

ATP5SL
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 15a02301_s1 genome 19 rs2231943
dbSNP Clinvar 		41938222 829.93 C T PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.00679 0.00679 0.01607 0.18 0.02 None None None None None None ATP5SL|0.004191665|86.74%

AXL
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 15a02301_s1 genome 19 rs7249222
dbSNP Clinvar 		41743861 2532.11 A G PASS 1/1 92 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None AXL|0.122230241|47.08%
View 15a02301_s1 genome 19 rs140014970
dbSNP Clinvar 		41765695 1333.79 G A PASS 0/1 97 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00031 None None None None None None AXL|0.122230241|47.08%

B9D2
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 15a02301_s1 genome 19 rs2241714
dbSNP Clinvar 		41869392 2100.08 T C PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.64956 0.64960 0.27549 0.15 0.01 None None None None None None TMEM91|0.011320437|79.75%,B9D2|0.087237839|53.74%

BCKDHA
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 15a02301_s1 genome 19 rs4674
dbSNP Clinvar 		41930396 2661.17 A G PASS 1/1 112 SYNONYMOUS_CODING LOW None 0.61701 0.61700 0.32301 None None None None None None BCKDHA|0.387424816|21.57%
View 15a02301_s1 genome 19 rs11549936
dbSNP Clinvar 		41916549 772.56 C A PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.05531 0.05531 0.09803 0.61 0.00 None None None None None None BCKDHA|0.387424816|21.57%
View 15a02301_s1 genome 19 rs284652
dbSNP Clinvar 		41928652 4715.88 C T PASS 1/1 182 SYNONYMOUS_CODING LOW None 0.61641 0.61640 0.32393 None None None None None None BCKDHA|0.387424816|21.57%

BLOC1S3
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 15a02301_s1 genome 19 rs758506
dbSNP Clinvar 		45682824 582.85 G A PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.14856 0.14860 0.09062 None None None None None None MARK4|0.139462613|44.48%,BLOC1S3|0.011503495|79.6%
View 15a02301_s1 genome 19 rs75792246
dbSNP Clinvar 		45682876 178.09 C G PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.00739 0.00739 0.00 0.98 None None None None None None MARK4|0.139462613|44.48%,BLOC1S3|0.011503495|79.6%

BSG
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 15a02301_s1 genome 19 rs4682
dbSNP Clinvar 		580665 1860.17 T C PASS 0/1 132 SYNONYMOUS_CODING LOW None 0.32648 0.32650 0.24104 None None None None None None None

C19orf12
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 15a02301_s1 genome 19 rs10424582
dbSNP Clinvar 		30193721 3942.94 G A PASS 1/1 132 SYNONYMOUS_CODING LOW None 0.61382 0.61380 0.24796 None None None None None None C19orf12|0.015097362|77.08%

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 15a02301_s1 genome 19 rs2230199
dbSNP Clinvar 		6718387 674.32 G C PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.08726 0.08726 0.15478 0.32 0.00 4.48 None None None None None None C3|0.038713281|66.19%
View 15a02301_s1 genome 19 rs17030
dbSNP Clinvar 		6677989 735.41 G A PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.48962 None None None None None None C3|0.038713281|66.19%
View 15a02301_s1 genome 19 rs7951
dbSNP Clinvar 		6681991 1556.66 G A PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.09125 0.09125 0.08696 None None None None None None C3|0.038713281|66.19%
View 15a02301_s1 genome 19 rs2230203
dbSNP Clinvar 		6710782 446.64 G T PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.06370 0.06370 0.13363 None None None None None None C3|0.038713281|66.19%
View 15a02301_s1 genome 19 rs423490
dbSNP Clinvar 		6697406 769.53 A G PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.81490 0.81490 0.24420 None None None None None None C3|0.038713281|66.19%
View 15a02301_s1 genome 19 rs1047286
dbSNP Clinvar 		6713262 2320.05 G A PASS 0/1 214 NON_SYNONYMOUS_CODING MODERATE None 0.06989 0.06989 0.14893 0.13 0.00 None None None None None None C3|0.038713281|66.19%

CACNA1A
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 15a02301_s1 genome 19 . 13318678 0.0 G . LowGQX . 2 CODON_DELETION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%
View 15a02301_s1 genome 19 rs2248069
dbSNP Clinvar 		13445208 863.86 C T PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.64117 0.64120 0.35631 None None None None None None CACNA1A|0.210424701|35.52%
View 15a02301_s1 genome 19 . 13318675 0.0 G . LowGQX . 2 CODON_DELETION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%
View 15a02301_s1 genome 19 . 13318674 0.0 T . LowGQX . 2 CODON_DELETION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%
View 15a02301_s1 genome 19 . 13318673 0.0 C . LowGQX . 2 CODON_DELETION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%
View 15a02301_s1 genome 19 rs16054
dbSNP Clinvar 		13318672 1857.74 CC... C PASS 1/1 26 CODON_DELETION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%
View 15a02301_s1 genome 19 . 13318676 0.0 C . LowGQX . 2 CODON_DELETION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%
View 15a02301_s1 genome 19 . 13318677 0.0 T . LowGQX . 2 CODON_DELETION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%

CALR3
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 15a02301_s1 genome 19 rs9305079
dbSNP Clinvar 		16591464 954.51 G A PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.65056 0.65060 0.34607 None None None None None None CALR3|0.020967658|73.69%
View 15a02301_s1 genome 19 rs3810198
dbSNP Clinvar 		16601194 1146.08 C T PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.65895 0.65890 0.33200 None None None None None None CALR3|0.020967658|73.69%

CARD8
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 15a02301_s1 genome 19 rs2043211
dbSNP Clinvar 		48737706 2083.89 A T PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.31649 0.31650 0.28818 0.19 0.05 None None None None None None ZNF114|0.000389534|99%,CARD8|0.001005926|95.39%

CC2D1A
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 15a02301_s1 genome 19 . 14031398 5.75 A C LowGQX;LowQD;SB 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.52 None None None None None None CC2D1A|0.03886496|66.15%
View 15a02301_s1 genome 19 rs10410239
dbSNP Clinvar 		14030689 1945.32 T C PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.42133 0.42130 0.36848 None None None None None None CC2D1A|0.03886496|66.15%

CCDC8
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 15a02301_s1 genome 19 . 46915874 81.42 T G SB 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 1.00 None None None None None None CCDC8|0.002358405|90.02%
View 15a02301_s1 genome 19 . 46915865 49.92 T G SB 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.99 None None None None None None CCDC8|0.002358405|90.02%
View 15a02301_s1 genome 19 rs750991405
dbSNP Clinvar 		46915857 6.13 T G LowGQX;LowQD;SB 0/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.04 None None None None None None CCDC8|0.002358405|90.02%
View 15a02301_s1 genome 19 rs878968526
dbSNP Clinvar 		46915017 235.92 C G LowQD 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None CCDC8|0.002358405|90.02%

CD177
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 15a02301_s1 genome 19 rs587670082
dbSNP Clinvar 		43865320 230.39 C A SB 0/1 29 SYNONYMOUS_CODING LOW None 0.71286 0.71290 None None None None None None CD177|0.000416107|98.86%
View 15a02301_s1 genome 19 rs78718189
dbSNP Clinvar 		43866449 187.85 G A SB 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.03435 0.03435 0.07418 0.00 1.00 None None None None None None CD177|0.000416107|98.86%
View 15a02301_s1 genome 19 . 43866417 27.14 T G LowGQX;LowQD;SB 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.46 None None None None None None CD177|0.000416107|98.86%
View 15a02301_s1 genome 19 rs17856829
dbSNP Clinvar 		43865692 1066.72 G A PASS 0/1 162 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.01 None None None None None None CD177|0.000416107|98.86%
View 15a02301_s1 genome 19 rs12978146
dbSNP Clinvar 		43865333 170.3 G A SB 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.24 0.01 None None None None None None CD177|0.000416107|98.86%
View 15a02301_s1 genome 19 rs201821720
dbSNP Clinvar 		43865321 222.63 T A SB 0/1 29 STOP_LOST HIGH None 0.71286 0.71290 None None None None None None CD177|0.000416107|98.86%
View 15a02301_s1 genome 19 rs200660811
dbSNP Clinvar 		43865316 258.93 C G SB 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.71286 0.71290 1.00 0.00 None None None None None None CD177|0.000416107|98.86%
View 15a02301_s1 genome 19 rs10425835
dbSNP Clinvar 		43864548 478.51 C A PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.44070 0.44070 0.43337 1.00 0.00 None None None None None None CD177|0.000416107|98.86%
View 15a02301_s1 genome 19 rs200145410
dbSNP Clinvar 		43865324 320.6 A G SB 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.71286 0.71290 1.00 0.00 None None None None None None CD177|0.000416107|98.86%
View 15a02301_s1 genome 19 rs12981771
dbSNP Clinvar 		43860255 338.25 T G LowMQ;SB 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.92093 0.92090 0.38 0.00 None None None None None None CD177|0.000416107|98.86%
View 15a02301_s1 genome 19 rs12980412
dbSNP Clinvar 		43860251 412.3 G A LowMQ;SB 1/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.92312 0.92310 1.00 0.00 None None None None None None CD177|0.000416107|98.86%
View 15a02301_s1 genome 19 rs12981714
dbSNP Clinvar 		43860192 481.87 T G LowMQ;SB 1/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.96126 0.96130 1.00 0.00 None None None None None None CD177|0.000416107|98.86%
View 15a02301_s1 genome 19 rs45441892
dbSNP Clinvar 		43857873 1571.0 G C PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.45967 0.45970 0.33071 1.00 0.00 None None None None None None CD177|0.000416107|98.86%

CD209
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 15a02301_s1 genome 19 . 7810448 98.48 T A LowQD 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.20 0.00 None None None None None None CD209|0.001091025|94.97%

CD22
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 15a02301_s1 genome 19 rs145621000
dbSNP Clinvar 		35828914 1852.64 G C PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.00699 0.00699 0.00554 None None None None None None CD22|0.000939875|95.85%

CD320
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 15a02301_s1 genome 19 rs2232775
dbSNP Clinvar 		8373152 996.56 T C PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.20487 0.20490 0.12279 1.00 0.00 None None None None None None CD320|0.001249206|94.17%
View 15a02301_s1 genome 19 rs2232784
dbSNP Clinvar 		8368758 1284.16 G A PASS 0/1 141 SYNONYMOUS_CODING LOW None 0.13219 0.13220 0.12858 None None None None None None CD320|0.001249206|94.17%
View 15a02301_s1 genome 19 rs2232783
dbSNP Clinvar 		8368794 1541.81 C A PASS 0/1 194 SYNONYMOUS_CODING LOW None 0.13339 0.13340 0.12962 None None None None None None CD320|0.001249206|94.17%
View 15a02301_s1 genome 19 rs150384171
dbSNP Clinvar 		8369918 1630.38 ACTC A PASS 0/1 92 CODON_DELETION MODERATE None 0.00699 0.00699 0.01078 None None None None None None CD320|0.001249206|94.17%
View 15a02301_s1 genome 19 . 8369919 156.54 C . PASS 0 60 CODON_DELETION MODERATE None 0.00699 0.00699 0.01078 None None None None None None CD320|0.001249206|94.17%
View 15a02301_s1 genome 19 . 8369920 156.54 T . PASS 0 60 CODON_DELETION MODERATE None 0.00699 0.00699 0.01078 None None None None None None CD320|0.001249206|94.17%
View 15a02301_s1 genome 19 . 8369921 165.44 C . PASS 0 62 CODON_DELETION MODERATE None 0.00699 0.00699 0.01078 None None None None None None CD320|0.001249206|94.17%
View 15a02301_s1 genome 19 rs2227289
dbSNP Clinvar 		8367359 1194.02 G C PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.13219 0.13220 0.13125 None None None None None None CD320|0.001249206|94.17%
View 15a02301_s1 genome 19 rs2336573
dbSNP Clinvar 		8367709 1254.98 C T PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.13219 0.13220 0.13117 0.12 0.06 None None None None None None CD320|0.001249206|94.17%

CD3EAP
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 15a02301_s1 genome 19 . 45912490 180.47 A . PASS 0 62 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%
View 15a02301_s1 genome 19 . 45912491 171.44 A . PASS 0 60 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%
View 15a02301_s1 genome 19 . 45912492 156.54 G . PASS 0 59 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%
View 15a02301_s1 genome 19 rs3212986
dbSNP Clinvar 		45912736 1032.24 C A PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.29513 0.29510 0.26124 1.00 0.00 None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%
View 15a02301_s1 genome 19 rs35729377,rs374686338
dbSNP Clinvar 		45912489 3664.27 CAAG C PASS 0/1 142 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%

CEACAM16
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 15a02301_s1 genome 19 rs61744497
dbSNP Clinvar 		45211407 2031.14 C T PASS 0/1 166 SYNONYMOUS_CODING LOW None 0.10843 0.10840 0.10417 None None None None None None CEACAM16|0.066749187|58.2%

CGB
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 15a02301_s1 genome 19 rs28571120
dbSNP Clinvar 		49526191 21.45 G A LowGQX;LowQD;SB 0/1 15 SYNONYMOUS_CODING LOW None None None None None None None CGB|0.010310859|80.63%
View 15a02301_s1 genome 19 rs17852109
dbSNP Clinvar 		49526203 24.6 G C LowGQX;LowQD;SB 0/1 26 SYNONYMOUS_CODING LOW None None None None None None None CGB|0.010310859|80.63%
View 15a02301_s1 genome 19 rs200571270
dbSNP Clinvar 		49526167 48.66 C T SB 0/1 20 SYNONYMOUS_CODING LOW None None None None None None None CGB|0.010310859|80.63%

CIC
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 15a02301_s1 genome 19 rs1052023
dbSNP Clinvar 		42799049 3636.65 C T PASS 0/1 314 SYNONYMOUS_CODING LOW None 0.11981 0.11980 0.27564 None None None None None None CIC|0.189017776|37.93%
View 15a02301_s1 genome 19 . 42794458 33.22 A C LowQD;SB 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.52 None None None None None None CIC|0.189017776|37.93%

CKM
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 15a02301_s1 genome 19 rs1133190
dbSNP Clinvar 		45818835 2866.4 A G PASS 1/1 123 SYNONYMOUS_CODING LOW None 0.40715 0.40710 0.46348 None None None None None None CKM|0.479138673|16.8%
View 15a02301_s1 genome 19 rs4884
dbSNP Clinvar 		45810035 2276.52 A G PASS 1/1 89 SYNONYMOUS_CODING LOW None 0.59525 0.59520 0.24935 None None None None None None CKM|0.479138673|16.8%

CLEC11A
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 15a02301_s1 genome 19 rs11084024
dbSNP Clinvar 		51228634 904.88 G A PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.15156 0.15160 0.20531 None None None None None None CLEC11A|0.01614362|76.37%

CLEC4M
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 15a02301_s1 genome 19 rs76899402
dbSNP Clinvar 		7830731 139.97 G A LowQD 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None CLEC4M|0.000869781|96.24%
View 15a02301_s1 genome 19 rs2277998
dbSNP Clinvar 		7831628 1921.14 G A PASS 0/1 167 NON_SYNONYMOUS_CODING MODERATE None 0.17712 0.17710 0.23112 0.33 0.01 None None None None None None CLEC4M|0.000869781|96.24%