+ 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 177

+ Genes associated with diseases 42

Genes at Omim

ATP7B, ATP8A2, BRCA2, CARS2, CLN5, COL4A1, COL4A2, DAOA, DIAPH3, DNAJC3, EDNRB, ERCC5, EXOSC8, F10, FGF9, FLT3, FREM2, GJA3, GRK1, HTR2A, ING1, IRS2, KL, LIG4, MIPEP, NALCN, PCCA, PIBF1, POLR1D, PROZ, RB1, RCBTB1, SACS, SGCG, SLC10A2, SLITRK6, SUCLA2, TBC1D4, TGDS, TNFSF11, UFM1, ZIC2,
ATP7B Wilson disease, 277900 (3)
ATP8A2 ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3)
BRCA2 Fanconi anemia, complementation group D1, 605724 (3)
{Glioblastoma 3}, 613029 (3)
{Medulloblastoma}, 155255 (3)
{Pancreatic cancer 2}, 613347 (3)
{Prostate cancer}, 176807 (3)
Wilms tumor, 194070 (3)
{Breast cancer, male, susceptibility to}, 114480 (3)
{Breast-ovarian cancer, familial, 2}, 612555 (3)
CARS2 Combined oxidative phosphorylation deficiency 27, 616672 (3)
CLN5 Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease with or without ocular anomalies, 175780 (3)
?Retinal arteries, tortuosity of, 180000 (3)
Schizencephaly, 269160 (3)
COL4A2 {Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease 2, 614483 (3)
DAOA {Schizophrenia}, 181500 (2)
DIAPH3 Auditory neuropathy, autosomal dominant, 1, 609129 (3)
DNAJC3 ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 (3)
EDNRB {Hirschsprung disease, susceptibility to, 2}, 600155 (3)
ABCD syndrome, 600501 (3)
Waardenburg syndrome, type 4A, 277580 (3)
ERCC5 Cerebrooculofacioskeletal syndrome 3, 616570 (3)
Xeroderma pigmentosum, group G, 278780 (3)
Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
EXOSC8 Pontocerebellar hypoplasia, type 1C, 616081 (3)
F10 Factor X deficiency, 227600 (3)
FGF9 Multiple synostoses syndrome 3, 612961 (3)
FLT3 Leukemia, acute lymphoblastic, somatic, 613065 (3)
Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
FREM2 Fraser syndrome 2, 617666 (3)
GJA3 Cataract 14, multiple types, 601885 (3)
GRK1 Oguchi disease-2, 613411 (3)
HTR2A {Major depressive disorder, response to citalopram therapy in}, 608516 (3)
{Obsessive-compulsive disorder, susceptibility to}, 164230 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
{Seasonal affective disorder, susceptibility to}, 608516 (3)
{Alcohol dependence, susceptibility to}, 103780 (3)
{Anorexia nervosa, susceptibility to}, 606788 (3)
ING1 Squamous cell carcinoma, head and neck, somatic, 275355 (3)
IRS2 {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
KL ?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994 (3)
LIG4 {Multiple myeloma, resistance to}, 254500 (3)
LIG4 syndrome, 606593 (3)
MIPEP Combined oxidative phosphorylation deficiency 31, 617228 (3)
NALCN Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3)
PCCA Propionicacidemia, 606054 (3)
PIBF1 Joubert syndrome 33, 617767 (3)
POLR1D Treacher Collins syndrome 2, 613717 (3)
PROZ [Protein Z deficiency], 614024 (3)
RB1 Bladder cancer, somatic, 109800 (3)
Osteosarcoma, somatic, 259500 (3)
Retinoblastoma, 180200 (3)
Retinoblastoma, trilateral, 180200 (3)
Small cell cancer of the lung, somatic, 182280 (3)
RCBTB1 Retinal dystrophy with or without extraocular anomalies, 617175 (3)
SACS Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
SGCG Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)
SLC10A2 Bile acid malabsorption, primary, 613291 (3)
SLITRK6 Deafness and myopia, 221200 (3)
SUCLA2 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)
TBC1D4 {Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3)
TGDS Catel-Manzke syndrome, 616145 (3)
TNFSF11 Osteopetrosis, autosomal recessive 2, 259710 (3)
UFM1 Leukodystrophy, hypomyelinating, 14, 617899 (3)
ZIC2 Holoprosencephaly 5, 609637 (3)

Genes at Clinical Genomics Database

ATP7B, BRCA2, CARS2, CLN5, COL4A1, COL4A2, DNAJC3, EDNRB, ERCC5, EXOSC8, F10, FGF9, FREM2, GJA3, GRK1, HTR2A, IFT88, KL, LIG4, NALCN, PCCA, POLR1D, PROZ, RB1, RXFP2, SACS, SGCG, SLC10A2, SLITRK6, SUCLA2, TBC1D4, TGDS, TNFSF11, ZIC2,
ATP7B Wilson disease
BRCA2 Breast-ovarian cancer, familial, susceptibility to
Pancreatic cancer, susceptibility to, 2
Glioma susceptibility 3
Fanconi anemia, complementation group D1
Wilms tumor
Medulloblastoma
CARS2 Combined oxidative phosphorylation deficiency 27
CLN5 Ceroid lipofuscinosis, neuronal, 5
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Brain small vessel disease with or without ocular anomalies
Anterior segment dysgenesis with cerebral involvement
Porencephaly 1
Retinal artery tortuosity
Schizencephaly
COL4A2 Hemorrhage, intracerebral, susceptibility to
DNAJC3 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
EDNRB Waardenburg syndrome type 4A
ABCD syndrome
Hirschsprung disease, susceptibility to, 2
ERCC5 Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G/Cockayne syndrome
EXOSC8 Pontocerebellar hypoplasia, type 1C
F10 Factor X deficiency
FGF9 Multiple synostoses syndrome 3
FREM2 Fraser syndrome
GJA3 Cataract 14, multiple types
GRK1 Oguchi disease 2
HTR2A Major depressive disorder, response to citalopram therapy in
Clozapine, response to
IFT88 Ciliopathy, IFT88-related
KL Tumoral calcinosis, hyperphosphatemic
LIG4 LIG4 syndrome
Severe combined immunodeficiency with sensitivity to ionizing radiation
NALCN Congenital contractures of the limbs and face, hypotonia, and developmental delay
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
PCCA Propionic acidemia
POLR1D Treacher Collins syndrome 2
PROZ Protein Z deficiency
RB1 Retinoblastoma
RXFP2 Cryptorchidism
SACS Spastic ataxia, Charlevoix-Saguenay type
SGCG Muscular dystrophy, limb-girdle, type 2C
SLC10A2 Bile acid malabsorption, primary
SLITRK6 Deafness and myopia
SUCLA2 Mitochondrial DNA depletion syndrome 5
TBC1D4 Diabetes mellitus, noninsulin-dependent 5
TGDS Catel-Manzke syndrome
TNFSF11 Osteopetrosis, autosomal recessive 2
ZIC2 Holoprosencephaly 5

Genes at HGMD

Summary

Number of Variants: 956
Number of Genes: 177

Export to: CSV

ABCC4
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs1678339
dbSNP Clinvar 		95727780 3046.77 T C PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.88778 0.88780 0.07420 None None None None None None ABCC4|0.142494523|44.07%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs2274405
dbSNP Clinvar 		95858978 3774.77 T C PASS 1/1 106 SYNONYMOUS_CODING LOW None 0.62600 0.62600 0.33592 None None None None None None ABCC4|0.142494523|44.07%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs1557070
dbSNP Clinvar 		95839003 3474.77 G A PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.08267 0.08267 0.07843 None None None None None None ABCC4|0.142494523|44.07%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs1189466
dbSNP Clinvar 		95726541 3036.77 A G PASS 1/1 82 SYNONYMOUS_CODING LOW None 0.90355 0.90360 0.05467 None None None None None None ABCC4|0.142494523|44.07%

AKAP11
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs2273952
dbSNP Clinvar 		42872719 1354.77 A G PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.11382 0.11380 0.12319 None None None None None None AKAP11|0.091513313|52.94%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs61748843
dbSNP Clinvar 		42874710 2122.77 C T PASS 0/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.02236 0.02236 0.02499 0.00 0.99 None None None None None None AKAP11|0.091513313|52.94%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs9315906
dbSNP Clinvar 		42877265 2766.77 G C PASS 0/1 158 SYNONYMOUS_CODING LOW None 0.13478 0.13480 0.12333 None None None None None None AKAP11|0.091513313|52.94%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs17521586
dbSNP Clinvar 		42882620 681.77 C T PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.11422 0.11420 0.12333 None None None None None None AKAP11|0.091513313|52.94%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs2273951
dbSNP Clinvar 		42872779 1469.77 C T PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.11382 0.11380 0.12317 None None None None None None AKAP11|0.091513313|52.94%

AL136218.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs3764090
dbSNP Clinvar 		50008301 4693.77 A G PASS 1/1 122 SYNONYMOUS_CODING LOW None 0.83167 0.83170 None None None None None None CAB39L|0.342406603|24.66%

ARL11
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs3803185
dbSNP Clinvar 		50205025 2963.77 T C PASS 0/1 213 NON_SYNONYMOUS_CODING MODERATE None 0.25379 0.25380 0.38925 0.52 0.00 None None None None None None ARL11|0.011853992|79.33%

ATP11A
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs1290177
dbSNP Clinvar 		113536132 3425.77 T C PASS 1/1 95 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.56490 0.56490 0.46179 None None None None None None ATP11A|0.13314168|45.42%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs368865
dbSNP Clinvar 		113479820 3378.77 A G PASS 1/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.84225 0.84230 0.20145 1.00 0.00 None None None None None None ATP11A|0.13314168|45.42%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs1320525
dbSNP Clinvar 		113527967 2343.77 G A PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.37480 0.37480 0.36322 None None None None None None ATP11A|0.13314168|45.42%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs9577174
dbSNP Clinvar 		113534907 1700.77 T C PASS 0/1 87 None None None 0.39018 0.39020 None None None None None None ATP11A|0.13314168|45.42%

ATP12A
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs7981616
dbSNP Clinvar 		25265103 1890.77 A G PASS 0/1 103 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.29533 0.29530 0.20437 None None None None None None ATP12A|0.195110246|37.26%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs2071490
dbSNP Clinvar 		25265139 2540.77 T C PASS 0/1 141 SYNONYMOUS_CODING LOW None 0.29553 0.29550 0.20437 None None None None None None ATP12A|0.195110246|37.26%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs963984
dbSNP Clinvar 		25266932 2497.77 C A PASS 0/1 152 SYNONYMOUS_CODING LOW None 0.23263 0.23260 0.10057 None None None None None None ATP12A|0.195110246|37.26%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs2289901
dbSNP Clinvar 		25272870 1451.77 C T PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.24780 0.24780 0.24143 None None None None None None ATP12A|0.195110246|37.26%

ATP4B
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs11164142
dbSNP Clinvar 		114309226 1810.77 G A PASS 0/1 131 SYNONYMOUS_CODING LOW None 0.47324 0.47320 0.39028 None None None None None None ATP4B|0.020415795|73.96%

ATP7B
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs1801249
dbSNP Clinvar 		52515354 1064.77 A G PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.54054 0.54050 0.42244 1.00 0.00 None None None None None None ATP7B|0.044059753|64.5%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs732774
dbSNP Clinvar 		52523808 509.77 C T PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.53095 0.53100 0.42835 1.00 0.00 None None None None None None ATP7B|0.044059753|64.5%

ATP8A2
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs6491066
dbSNP Clinvar 		26148966 3102.77 C T PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.53634 0.53630 0.29168 None None None None None None ATP8A2|0.338221309|24.95%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs6491088
dbSNP Clinvar 		26273385 1920.77 G C PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.98742 0.98740 0.01018 None None None None None None ATP8A2|0.338221309|24.95%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs7317185
dbSNP Clinvar 		26043182 2014.77 A C PASS 0/1 153 SYNONYMOUS_CODING LOW None 0.20407 0.20410 0.24120 None None None None None None ATP8A2|0.338221309|24.95%

B3GALTL
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs1041073
dbSNP Clinvar 		31891746 1164.77 G A PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.66673 0.66670 0.34461 0.03 0.19 None None None None None None B3GALTL|0.110722838|49.06%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs4943266
dbSNP Clinvar 		31821992 2065.77 T C PASS 1/1 51 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.97544 0.97540 0.03601 None None None None None None B3GALTL|0.110722838|49.06%

BORA
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs10648315,rs370727431
dbSNP Clinvar 		73317740 1813.73 G GGTGA PASS 0/1 86 None None None 0.13578 0.13580 0.11026 None None None None None None BORA|0.244606958|32.05%

BRCA2
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs206076
dbSNP Clinvar 		32915005 5267.77 G C PASS 1/1 135 SYNONYMOUS_CODING LOW None 0.00040 0.97360 0.02453 None None None None None None BRCA2|0.561492787|13.3%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs1799955
dbSNP Clinvar 		32929232 1990.77 A G PASS 0/1 120 SYNONYMOUS_CODING LOW None 0.23263 0.23260 0.21136 None None None None None None BRCA2|0.561492787|13.3%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs206075
dbSNP Clinvar 		32913055 5286.77 A G PASS 1/1 133 SYNONYMOUS_CODING LOW None 0.97404 0.97400 0.02423 None None None None None None BRCA2|0.561492787|13.3%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs1801406
dbSNP Clinvar 		32911888 1360.77 A G PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.26677 0.26680 0.27984 None None None None None None BRCA2|0.561492787|13.3%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs169547
dbSNP Clinvar 		32929387 1206.77 T C PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.97584 0.97580 0.02230 1.00 0.00 None None None None None None BRCA2|0.561492787|13.3%

C1QTNF9
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs2862239
dbSNP Clinvar 		24895684 1756.77 A G PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.89577 0.89580 0.12392 None None None None None None C1QTNF9|0.007159011|83.32%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs1974332
dbSNP Clinvar 		24890157 2549.77 C T PASS 0/1 173 NON_SYNONYMOUS_CODING MODERATE None 0.26398 0.26400 0.21652 0.01 0.02 None None None None None None C1QTNF9|0.007159011|83.32%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs4275724
dbSNP Clinvar 		24890228 1961.77 A C MQFilter 0/1 92 SYNONYMOUS_CODING LOW None 0.26757 0.26760 0.22092 None None None None None None C1QTNF9|0.007159011|83.32%

C1QTNF9B
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs66990269
dbSNP Clinvar 		24471039 1608.77 T G MQFilter 0/1 99 SYNONYMOUS_CODING LOW None None None None None None None C1QTNF9B|0.013563559|78.16%

CAB39L
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs8002858
dbSNP Clinvar 		49951193 702.77 T C PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.49581 0.49580 0.41865 None None None None None None CAB39L|0.342406603|24.66%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs8002829
dbSNP Clinvar 		49951142 919.77 T C PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.49581 0.49580 0.41858 None None None None None None CAB39L|0.342406603|24.66%

CARKD
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs3742192
dbSNP Clinvar 		111279844 1770.77 G A PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.06350 0.06350 0.03091 0.11 0.97 None None None None None None CARKD|0.007460378|83.11%

CARS2
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs436462
dbSNP Clinvar 		111298392 2250.77 A G PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.47424 0.47420 0.41281 None None None None None None CARS2|0.018441874|74.99%

CCDC168
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs7335290
dbSNP Clinvar 		103385299 4229.77 A C PASS 1/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.97284 0.97280 0.02584 0.99 0.00 None None None None None None CCDC168|0.000980876|95.56%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs9518825
dbSNP Clinvar 		103388370 2346.77 C T PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.23403 0.23400 0.17565 0.21 0.93 None None None None None None CCDC168|0.000980876|95.56%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs9554897
dbSNP Clinvar 		103383417 2378.77 T C PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.33746 0.33750 0.38590 1.00 0.00 None None None None None None CCDC168|0.000980876|95.56%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs9300756
dbSNP Clinvar 		103384824 1584.77 G A PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.58666 0.58670 0.45881 0.17 0.00 None None None None None None CCDC168|0.000980876|95.56%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs7983175
dbSNP Clinvar 		103385798 4872.77 T C PASS 1/1 126 NON_SYNONYMOUS_CODING MODERATE None 0.97284 0.97280 0.02562 1.00 0.00 None None None None None None CCDC168|0.000980876|95.56%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs7982465
dbSNP Clinvar 		103386116 7065.77 C G PASS 1/1 192 NON_SYNONYMOUS_CODING MODERATE None 0.97125 0.97120 0.02650 0.11 0.40 None None None None None None CCDC168|0.000980876|95.56%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs6491707
dbSNP Clinvar 		103385015 6359.77 A G PASS 1/1 163 NON_SYNONYMOUS_CODING MODERATE None 0.99581 0.99580 0.00285 0.64 0.00 None None None None None None CCDC168|0.000980876|95.56%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs7982670
dbSNP Clinvar 		103386283 5727.77 A G PASS 1/1 149 SYNONYMOUS_CODING LOW None 0.97145 0.97140 0.02584 None None None None None None CCDC168|0.000980876|95.56%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs9300758
dbSNP Clinvar 		103388220 3951.77 A G PASS 1/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.99101 0.99100 0.00854 0.09 0.00 None None None None None None CCDC168|0.000980876|95.56%

CCDC169
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs9546785
dbSNP Clinvar 		36801415 1585.77 C T PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.37760 0.37760 0.41196 0.01 0.00 None None None None None None SOHLH2|0.025487064|71.56%,CCDC169-SOHLH2|0.024786398|71.88%,CCDC169|0.01125788|79.84%

CCDC169-SOHLH2
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs9546897
dbSNP Clinvar 		36828237 601.77 T C PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.37580 0.37580 1.00 0.00 None None None None None None SOHLH2|0.025487064|71.56%,CCDC169-SOHLH2|0.024786398|71.88%,CCDC169|0.01125788|79.84%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs9602419
dbSNP Clinvar 		36765970 1351.77 G A PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.02376 0.02376 0.02468 None None None None None None SOHLH2|0.025487064|71.56%,CCDC169-SOHLH2|0.024786398|71.88%

CCDC70
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs17076052
dbSNP Clinvar 		52439890 2234.77 C T PASS 0/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.07728 0.07728 0.06628 0.04 0.03 None None None None None None CCDC70|0.003653963|87.51%

CDADC1
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs6561512
dbSNP Clinvar 		49840024 3072.77 A G PASS 1/1 83 None None None 0.95387 0.95390 0.15 0.00 None None None None None None CDADC1|0.301878995|27.51%

CDC16
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs8002514
dbSNP Clinvar 		115002305 2415.77 G A PASS 0/1 165 SYNONYMOUS_CODING LOW None 0.34165 0.34170 0.32816 None None None None None None CDC16|0.574269029|12.84%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs2296971
dbSNP Clinvar 		115004914 1013.77 C T PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.44429 0.44430 0.44210 None None None None None None CDC16|0.574269029|12.84%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs2296970
dbSNP Clinvar 		115004935 972.77 T C PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.44169 0.44170 0.43934 None None None None None None CDC16|0.574269029|12.84%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs8809
dbSNP Clinvar 		115030714 862.77 T C PASS 0/1 67 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.36941 0.36940 0.35422 None None None None None None CDC16|0.574269029|12.84%

CDX2
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs1805107
dbSNP Clinvar 		28537317 1252.77 G A PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.72564 0.72560 0.29187 0.08 0.00 None None None None None None CDX2|0.819268423|5.35%

CKAP2
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs7335867
dbSNP Clinvar 		53035925 6259.77 A G PASS 1/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.99960 0.99960 0.00031 1.00 0.00 None None None None None None CKAP2|0.618697736|11.13%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs7337054
dbSNP Clinvar 		53035783 5225.77 T C PASS 1/1 133 SYNONYMOUS_CODING LOW None 0.99740 0.99740 0.00292 None None None None None None CKAP2|0.618697736|11.13%

CLN5
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs1800209
dbSNP Clinvar 		77574983 2234.77 A G PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.24461 0.24460 0.18826 1.00 0.00 None None None None None None CLN5|0.079356583|55.32%,FBXL3|0.526378926|14.71%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs7987664
dbSNP Clinvar 		77566158 481.77 A G PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.11202 0.11200 0.06638 None None None None None None CLN5|0.079356583|55.32%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs36038805
dbSNP Clinvar 		77575068 2766.77 T C PASS 0/1 161 SYNONYMOUS_CODING LOW None 0.03335 0.03335 0.02255 None None None None None None CLN5|0.079356583|55.32%,FBXL3|0.526378926|14.71%

CLYBL
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs3831038,rs57126726,rs796986882
dbSNP Clinvar 		100517195 1805.73 CTG C PASS 0/1 126 None None None 0.24677 None None None None None None CLYBL|0.43420364|18.99%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs3783185
dbSNP Clinvar 		100518580 4694.77 A G PASS 1/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.82508 0.82510 0.23697 0.06 0.34 None None None None None None CLYBL|0.43420364|18.99%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs912284
dbSNP Clinvar 		100537232 6513.77 T C PASS 1/1 177 None None None 0.82268 0.82270 0.14121 0.00 None None None None None None CLYBL|0.43420364|18.99%

COG3
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs62637564
dbSNP Clinvar 		46104849 3381.77 C T PASS 1/1 96 SYNONYMOUS_CODING LOW None 0.03774 0.03774 0.04129 None None None None None None COG3|0.283875936|28.81%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs3014902
dbSNP Clinvar 		46108853 4656.77 T C PASS 1/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.99820 0.99820 0.00200 1.00 0.00 None None None None None None COG3|0.283875936|28.81%,ERICH6B|0.000395053|98.98%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs2985989
dbSNP Clinvar 		46108854 4656.77 G A PASS 1/1 104 SYNONYMOUS_CODING LOW None 0.81370 0.81370 0.21127 None None None None None None COG3|0.283875936|28.81%,ERICH6B|0.000395053|98.98%

COL4A1
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs536174
dbSNP Clinvar 		110839550 1149.77 T G PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None COL4A1|0.224151486|33.94%

COL4A2
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs4103
dbSNP Clinvar 		111098226 2519.77 C T PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.48987 None None None None None None COL4A2|0.044971251|64.22%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs445348
dbSNP Clinvar 		111158874 3128.77 A G PASS 1/1 92 SYNONYMOUS_CODING LOW None 0.75200 0.75200 0.12908 None None None None None None COL4A2|0.044971251|64.22%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs4771683
dbSNP Clinvar 		111156499 2655.77 C T PASS 0/1 173 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.05438 None None None None None None COL4A2|0.044971251|64.22%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs438758
dbSNP Clinvar 		111155773 2583.77 T C PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.98023 0.98020 0.01286 None None None None None None COL4A2|0.044971251|64.22%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs74124319
dbSNP Clinvar 		111082900 4359.77 C T PASS 1/1 117 SYNONYMOUS_CODING LOW None 0.02776 0.02776 0.02971 None None None None None None COL4A2|0.044971251|64.22%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs409858
dbSNP Clinvar 		111154061 947.77 T C PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05167 None None None None None None COL4A2|0.044971251|64.22%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs439831
dbSNP Clinvar 		111154058 909.77 T A PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05156 None None None None None None COL4A2|0.044971251|64.22%

CPB2
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs1926447
dbSNP Clinvar 		46629944 3000.77 A G PASS 1/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.78315 0.78310 0.24293 0.76 0.00 None None None None None None CPB2|0.106282021|49.92%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs2296642
dbSNP Clinvar 		46656669 3556.77 A G PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.79872 0.79870 0.22044 None None None None None None CPB2|0.106282021|49.92%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs7337140
dbSNP Clinvar 		46641481 3922.77 T C PASS 1/1 111 SYNONYMOUS_CODING LOW None 0.80671 0.80670 0.21529 None None None None None None CPB2|0.106282021|49.92%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs3742264
dbSNP Clinvar 		46648094 1269.77 C T PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.30731 0.30730 0.34569 0.71 0.00 None None None None None None CPB2|0.106282021|49.92%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs9316179
dbSNP Clinvar 		46641466 1472.77 A G PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.30751 0.30750 0.34553 None None None None None None CPB2|0.106282021|49.92%

CRYL1
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs14236
dbSNP Clinvar 		21063524 3232.77 A G PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.27037 0.27040 0.29022 None None None None None None CRYL1|0.031917441|68.66%

CSNK1A1L
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs9576175
dbSNP Clinvar 		37679268 3175.77 G T PASS 0/1 202 NON_SYNONYMOUS_CODING MODERATE None 0.59685 0.59680 0.48639 1.00 0.00 None None None None None None CSNK1A1L|0.002850099|88.93%

CYSLTR2
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs61735175
dbSNP Clinvar 		49281660 2804.77 C T PASS 0/1 183 NON_SYNONYMOUS_CODING MODERATE None 0.02975 0.02975 0.03429 0.23 0.01 None None None None None None CYSLTR2|0.029490791|69.61%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs61735177
dbSNP Clinvar 		49281068 2398.77 G C PASS 0/1 151 NON_SYNONYMOUS_CODING MODERATE None 0.00958 0.00959 0.01123 0.72 0.01 None None None None None None CYSLTR2|0.029490791|69.61%

DACH1
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs782647326,rs748058171
dbSNP Clinvar 		72440658 467.73 TG... T PASS 0/1 25 CODON_DELETION MODERATE None None None None None None None DACH1|0.996005265|0.75%

DAOA
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs778294
dbSNP Clinvar 		106142235 1899.77 C T PASS 0/1 154 None None None 0.21705 0.21710 0.26249 None None None None None None DAOA|0.00091047|95.98%

DCLK1
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs3748308
dbSNP Clinvar 		36686138 5223.77 T C PASS 1/1 144 SYNONYMOUS_CODING LOW None 0.22105 0.22100 0.25373 None None None None None None DCLK1|0.773439585|6.47%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs2296645
dbSNP Clinvar 		36402426 326.77 A G PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.33227 0.33230 0.36121 None None None None None None DCLK1|0.773439585|6.47%

DCT
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs755684
dbSNP Clinvar 		95097956 2743.77 C T PASS 1/1 80 None None None 0.62859 0.62860 0.19444 None None None None None None DCT|0.788157609|6.16%

DCUN1D2
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs2490953
dbSNP Clinvar 		114144842 256.77 T C PASS 0/1 19 None None None 0.44010 0.44010 0.06 0.00 None None None None None None DCUN1D2|0.038646502|66.23%

DGKH
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs9533031
dbSNP Clinvar 		42772717 1119.77 G T PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.40176 0.40180 0.48186 None None None None None None DGKH|0.240075062|32.44%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs35357520
dbSNP Clinvar 		42752288 1356.77 C T PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.00779 0.00779 0.00877 None None None None None None DGKH|0.240075062|32.44%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs180870
dbSNP Clinvar 		42793479 1072.77 G A PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.62680 0.62680 0.33969 None None None None None None DGKH|0.240075062|32.44%

DIAPH3
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs41293422
dbSNP Clinvar 		60240829 2510.77 C T PASS 0/1 152 SYNONYMOUS_CODING LOW None 0.04173 0.04173 0.05261 None None None None None None DIAPH3|0.799618501|5.85%

DIS3
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs2196979
dbSNP Clinvar 		73343039 644.77 C T PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.77017 0.77020 0.25239 None None None None None None DIS3|0.399402083|20.82%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 13 rs7332388
dbSNP Clinvar 		73349359 866.77 G C PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.43271 0.43270 0.49608 0.51 0.00 None None None None None None DIS3|0.399402083|20.82%