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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 122

+ Genes associated with diseases 26

Genes at Omim

AIRE, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, FTCD, HLCS, IFNAR2, IFNGR2, ITGB2, KCNE1, KCNJ6, LIPI, LSS, MCM3AP, NRIP1, PCNT, PIGP, RIPK4, RUNX1, SIK1, SON, TMPRSS15, TMPRSS3,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)
CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Thrombosis, hyperhomocysteinemic, 236200 (3)
CLDN14 Deafness, autosomal recessive 29, 614035 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
COL6A1 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
COL6A2 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
?Myosclerosis, congenital, 255600 (3)
CRYAA Cataract 9, multiple types, 604219 (3)
FTCD Glutamate formiminotransferase deficiency, 229100 (3)
HLCS Holocarboxylase synthetase deficiency, 253270 (3)
IFNAR2 {Hepatitis B virus, susceptibility to}, 610424 (3)
?Immunodeficiency 45, 616669 (3)
IFNGR2 Immunodeficiency 28, mycobacteriosis, 614889 (3)
ITGB2 Leukocyte adhesion deficiency, 116920 (3)
KCNE1 Jervell and Lange-Nielsen syndrome 2, 612347 (3)
Long QT syndrome 5, 613695 (3)
KCNJ6 Keppen-Lubinsky syndrome, 614098 (3)
LIPI {Hypertriglyceridemia, susceptibility to}, 145750 (3)
LSS Cataract 44, 616509 (3)
Hypotrichosis 14, 618275 (3)
MCM3AP Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3)
NRIP1 ?Congenital anomalies of kidney and urinary tract 3, 618270 (3)
PCNT Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PIGP ?Epileptic encephalopathy, early infantile, 55, 617599 (3)
RIPK4 CHAND syndrome, 214350 (3)
Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3)
RUNX1 Leukemia, acute myeloid, 601626 (3)
Platelet disorder, familial, with associated myeloid malignancy, 601399 (3)
SIK1 Epileptic encephalopathy, early infantile, 30, 616341 (3)
SON ZTTK syndrome, 617140 (3)
TMPRSS15 Enterokinase deficiency, 226200 (3)
TMPRSS3 Deafness, autosomal recessive 8/10, 601072 (3)

Genes at Clinical Genomics Database

AIRE, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, FTCD, HLCS, IFNAR2, IFNGR2, ITGB2, KCNE1, KCNJ6, LIPI, LSS, NRIP1, PCNT, RIPK4, RUNX1, SIK1, TMPRSS15, TMPRSS3,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
CBS Homocystinuria due to cystathionine beta-synthase deficiency
CLDN14 Deafness, autosomal recessive 29
COL18A1 Knobloch syndrome 1
COL6A1 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
COL6A2 Ullrich congenital muscular dystrophy 1
Myosclerosis, congenital
Bethlem myopathy 1
Epilepsy, progressive myoclonic, autosomal recessive
CRYAA Cataract 9, multiple types
FTCD Glutamate formiminotransferase deficiency
HLCS Holocarboxylase synthetase deficiency
IFNAR2 Immunodeficiency 45
IFNGR2 Immunodeficiency 28
ITGB2 Leukocyte adhesion deficiency, type I
KCNE1 Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2
KCNJ6 Keppen-Lubinsky syndrome
LIPI Hypertriglyceridemia, familial
LSS Cataract 44
NRIP1 Schizophrenia
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
RIPK4 Popliteal pterygium syndrome, lethal type
Bartsocas-Papas syndrome
RUNX1 Platelet disorder, familial, with associated myeloid malignancy
SIK1 Epileptic encephalopathy, early infantile 30
TMPRSS15 Enterokinase deficiency
TMPRSS3 Deafness, autosomal recessive 10
Deafness, autosomal recessive 8

Genes at HGMD

Summary

Number of Variants: 3585
Number of Genes: 122

Export to: CSV

ADAMTS1
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 fam5 cleaned 3405_16 21 rs373460567
dbSNP Clinvar 		28215826 3070.0 C CACA PASS 1/1 0 None None None None None None None None None ADAMTS1|0.304173311|27.34%
View fam5 cleaned 3405_16 21 rs3838077,rs397841322
dbSNP Clinvar 		28215836 3070.0 GC G PASS 1/1 0 None None None 0.68890 0.68890 None None None None None None ADAMTS1|0.304173311|27.34%
View fam5 cleaned 3405_16 21 rs436525
dbSNP Clinvar 		28212760 1298.0 G A PASS 1/1 65 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.32493 None None None None None None ADAMTS1|0.304173311|27.34%
View fam5 cleaned 3405_16 21 rs370850
dbSNP Clinvar 		28216066 3070.0 C T PASS 1/1 162 None None None 0.68810 0.68810 0.20276 None None None None None None ADAMTS1|0.304173311|27.34%
View fam5 cleaned 3405_16 21 rs445784
dbSNP Clinvar 		28216692 650.0 G T PASS 1/1 25 SYNONYMOUS_CODING LOW None 0.67812 0.67810 0.16880 None None None None None None ADAMTS1|0.304173311|27.34%
View fam5 cleaned 3405_16 21 rs428785
dbSNP Clinvar 		28216595 630.0 C G PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.68910 0.68910 0.18987 0.25 0.00 None None None None None None ADAMTS1|0.304173311|27.34%
View fam5 cleaned 3405_16 21 rs434857
dbSNP Clinvar 		28217178 1177.0 T G PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.68890 0.68890 0.17773 None None None None None None ADAMTS1|0.304173311|27.34%

ADAMTS5
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 fam5 cleaned 3405_16 21 rs226794
dbSNP Clinvar 		28302355 1903.0 A G PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.80970 0.80970 0.08527 1.00 0.00 None None None None None None ADAMTS5|0.324991256|25.8%
View fam5 cleaned 3405_16 21 rs2830585
dbSNP Clinvar 		28305212 931.0 C T PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.09884 0.09884 0.13002 0.01 1.00 None None None None None None ADAMTS5|0.324991256|25.8%

ADARB1
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 fam5 cleaned 3405_16 21 rs147573765
dbSNP Clinvar 		46600355 464.0 A G PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.00100 0.00100 0.00138 None None None None None None ADARB1|0.037848146|66.51%
View fam5 cleaned 3405_16 21 rs1051367
dbSNP Clinvar 		46641968 1197.0 G A PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.49401 0.49400 0.49692 None None None None None None ADARB1|0.037848146|66.51%
View fam5 cleaned 3405_16 21 rs146201109
dbSNP Clinvar 		46624486 662.0 A G PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.00180 0.00484 0.36 0.01 None None None None None None ADARB1|0.037848146|66.51%

AF165138.7
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 fam5 cleaned 3405_16 21 rs456067
dbSNP Clinvar 		15974409 2962.0 T C PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None None

AIRE
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 fam5 cleaned 3405_16 21 rs878081
dbSNP Clinvar 		45708277 1643.0 C T PASS 1/1 79 SYNONYMOUS_CODING LOW None 0.13319 0.13320 0.18679 None None None None None None AIRE|0.006628229|83.92%
View fam5 cleaned 3405_16 21 rs1800521
dbSNP Clinvar 		45712977 2096.0 T C PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.35623 0.35620 0.39350 None None None None None None AIRE|0.006628229|83.92%

AP000695.1
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 fam5 cleaned 3405_16 21 rs114872540
dbSNP Clinvar 		37858540 158.0 T G PASS 0/1 14 SYNONYMOUS_CODING LOW None 0.05611 0.05611 None None None None None None CLDN14|0.178050404|39.29%
View fam5 cleaned 3405_16 21 rs138952890
dbSNP Clinvar 		37858280 199.0 C A PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.03335 0.03335 0.58 None None None None None None CLDN14|0.178050404|39.29%
View fam5 cleaned 3405_16 21 rs147383938
dbSNP Clinvar 		37858564 166.0 C CC... PASS 0/1 0 FRAME_SHIFT HIGH None 0.06729 0.06729 None None None None None None CLDN14|0.178050404|39.29%

ATP5J
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 fam5 cleaned 3405_16 21 rs73897037
dbSNP Clinvar 		27090065 177.0 A T PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.02496 0.02496 0.02564 0.08 0.00 None None None None None None ATP5J|0.184041612|38.47%

ATP5O
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 fam5 cleaned 3405_16 21 rs9980730
dbSNP Clinvar 		35275955 1957.0 G A PASS 1/1 41 None None None 0.99101 0.99100 0.02237 None None None None None None ATP5O|0.055947808|60.93%
View fam5 cleaned 3405_16 21 rs4591
dbSNP Clinvar 		35281393 868.0 A G PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.70208 0.70210 0.29940 None None None None None None ATP5O|0.055947808|60.93%

B3GALT5
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 fam5 cleaned 3405_16 21 rs3746887
dbSNP Clinvar 		41032740 1818.0 T C PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.65336 0.65340 0.31493 1.00 0.00 None None None None None None B3GALT5|0.004441095|86.45%
View fam5 cleaned 3405_16 21 rs734413
dbSNP Clinvar 		41032804 2354.0 G A PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.62939 0.62940 0.33746 None None None None None None B3GALT5|0.004441095|86.45%

BACH1
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 fam5 cleaned 3405_16 21 rs388707
dbSNP Clinvar 		30714776 888.0 T C PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.49285 None None None None None None BACH1|0.113830282|48.51%
View fam5 cleaned 3405_16 21 rs363431
dbSNP Clinvar 		30969901 1422.0 T C PASS 1/1 50 None None None 0.61082 0.61080 0.00 0.01 None None None None None None BACH1|0.113830282|48.51%,GRIK1|0.993633799|0.9%,GRIK1-AS2|0.001444575|93.08%

BRWD1
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 fam5 cleaned 3405_16 21 rs2836972
dbSNP Clinvar 		40652142 1001.0 G A PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.21506 0.21510 0.33308 None None None None None None BRWD1|0.163713366|41.06%
View fam5 cleaned 3405_16 21 rs2183573
dbSNP Clinvar 		40574305 733.0 A G PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.61861 0.61860 0.40143 0.03 0.77 None None None None None None BRWD1|0.163713366|41.06%
View fam5 cleaned 3405_16 21 rs2056844
dbSNP Clinvar 		40670460 782.0 G C PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.47844 0.47840 0.45725 0.28 0.00 None None None None None None BRWD1|0.163713366|41.06%
View fam5 cleaned 3405_16 21 rs1041439
dbSNP Clinvar 		40571246 3070.0 A G PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.85284 0.85280 0.05336 0.52 0.00 None None None None None None BRWD1|0.163713366|41.06%
View fam5 cleaned 3405_16 21 rs6517529
dbSNP Clinvar 		40584598 1621.0 C T PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.85164 0.85160 0.05362 None None None None None None BRWD1|0.163713366|41.06%

C21orf128
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 fam5 cleaned 3405_16 21 rs11701371
dbSNP Clinvar 		43523972 1310.0 G C PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.20048 0.20050 0.19583 None None None None None None UMODL1|0.002901681|88.83%,UMODL1-AS1|0.000431351|98.79%

C21orf2
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 fam5 cleaned 3405_16 21 rs11552066
dbSNP Clinvar 		45750145 884.0 T C PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.08626 0.08626 0.08761 0.21 0.01 None None None None None None C21orf2|0.021974871|73.18%

C21orf33
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 fam5 cleaned 3405_16 21 rs968714
dbSNP Clinvar 		45553596 2538.0 T C PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.59185 0.59190 0.34155 0.83 0.00 None None None None None None C21orf33|0.016835395|76%
View fam5 cleaned 3405_16 21 rs7676
dbSNP Clinvar 		45565473 3070.0 C T PASS 1/1 158 None None None 0.75200 0.75200 None None None None None None C21orf33|0.016835395|76%

C21orf62
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 fam5 cleaned 3405_16 21 rs74617086
dbSNP Clinvar 		34166190 3070.0 A T PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%
View fam5 cleaned 3405_16 21 rs2231390
dbSNP Clinvar 		34166343 2989.0 C T PASS 1/1 61 SYNONYMOUS_CODING LOW None 0.72744 0.72740 0.28794 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%

C21orf67
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 fam5 cleaned 3405_16 21 rs11088971
dbSNP Clinvar 		46355710 1877.0 A G PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.46286 0.46290 0.49737 None None None None None None LINC01547|0.001110417|94.89%

C21orf88
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 fam5 cleaned 3405_16 21 rs662571
dbSNP Clinvar 		40969826 2538.0 G C PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.99940 0.99940 0.00110 0.03 0.00 None None None None None None B3GALT5|0.004441095|86.45%,B3GALT5-AS1|0.00047299|98.57%

CBR1
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 fam5 cleaned 3405_16 21 rs1005696
dbSNP Clinvar 		37443480 1841.0 T G PASS 1/1 41 None None None 0.59685 0.59680 0.71 0.00 None None None None None None SETD4|0.031167746|68.91%,CBR1|0.018056419|75.24%

CBR3
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 fam5 cleaned 3405_16 21 rs8133052
dbSNP Clinvar 		37507501 169.0 G A PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.36681 0.36680 0.37228 0.60 0.00 None None None None None None CBR3|0.052541759|61.89%
View fam5 cleaned 3405_16 21 rs881711
dbSNP Clinvar 		37507745 1180.0 C T PASS 1/1 19 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%
View fam5 cleaned 3405_16 21 rs1056892
dbSNP Clinvar 		37518706 1771.0 G A PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.42712 0.42710 0.39874 0.07 0.21 None None None None None None CBR3|0.052541759|61.89%

CBS
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 fam5 cleaned 3405_16 21 rs234706
dbSNP Clinvar 		44485350 2700.0 G A PASS 1/1 127 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.19649 0.19650 0.30609 None None None None None None CBS|0.170288794|40.28%
View fam5 cleaned 3405_16 21 rs8132811
dbSNP Clinvar 		44475877 1970.0 C T PASS 1/1 56 None None None 0.19209 0.19210 None None None None None None CBS|0.170288794|40.28%

CHAF1B
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 fam5 cleaned 3405_16 21 rs62229404
dbSNP Clinvar 		37759957 966.0 C T PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.04014 0.04014 0.06374 0.05 0.30 None None None None None None CHAF1B|0.088807597|53.49%

CLDN14
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 fam5 cleaned 3405_16 21 rs117560775
dbSNP Clinvar 		37833931 239.0 C T PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.02236 0.02236 0.02185 None None None None None None CLDN14|0.178050404|39.29%
View fam5 cleaned 3405_16 21 rs219779
dbSNP Clinvar 		37833751 815.0 G A PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.19010 0.19010 0.27626 None None None None None None CLDN14|0.178050404|39.29%

CLDN17
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 fam5 cleaned 3405_16 21 rs35531957
dbSNP Clinvar 		31538692 369.0 C T PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.10124 0.10120 0.06858 0.00 0.98 None None None None None None CLDN17|0.012700155|78.72%

CLDN8
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 fam5 cleaned 3405_16 21 rs686364
dbSNP Clinvar 		31587793 1376.0 A G PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.41873 0.41870 0.38428 1.00 0.00 None None None None None None CLDN8|0.022912612|72.76%

CLIC6
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 fam5 cleaned 3405_16 21 rs13049239
dbSNP Clinvar 		36042584 284.0 G A PASS 0/1 9 SYNONYMOUS_CODING LOW None 0.21985 0.21980 0.14250 None None None None None None CLIC6|0.002510101|89.68%
View fam5 cleaned 3405_16 21 rs6517254
dbSNP Clinvar 		36080290 1841.0 C T PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.37001 0.37000 0.46179 None None None None None None CLIC6|0.002510101|89.68%
View fam5 cleaned 3405_16 21 rs13049028
dbSNP Clinvar 		36042579 381.0 C G PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.22284 0.22280 0.15756 0.69 0.00 None None None None None None CLIC6|0.002510101|89.68%

COL18A1
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 fam5 cleaned 3405_16 21 rs572048525
dbSNP Clinvar 		46930062 275.0 C T PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00 1.00 None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View fam5 cleaned 3405_16 21 rs11702425
dbSNP Clinvar 		46908355 640.0 T C PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.31989 0.31990 0.31287 None None None None None None COL18A1|0.045578537|64.02%
View fam5 cleaned 3405_16 21 rs914230
dbSNP Clinvar 		46875564 2729.0 T C PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.98842 0.98840 0.03067 None None None None None None COL18A1|0.045578537|64.02%
View fam5 cleaned 3405_16 21 rs12483761
dbSNP Clinvar 		46927489 561.0 A G PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.11841 0.11840 0.13467 None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View fam5 cleaned 3405_16 21 rs2236451
dbSNP Clinvar 		46876083 895.0 A G PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.37560 0.37560 0.38293 None None None None None None COL18A1|0.045578537|64.02%
View fam5 cleaned 3405_16 21 rs2230688
dbSNP Clinvar 		46896312 860.0 G T PASS 0/1 113 SYNONYMOUS_CODING LOW None 0.00140 0.00140 0.16551 None None None None None None COL18A1|0.045578537|64.02%
View fam5 cleaned 3405_16 21 rs2230687
dbSNP Clinvar 		46896303 835.0 C G PASS 0/1 119 SYNONYMOUS_CODING LOW None 0.00499 0.00499 0.18044 None None None None None None COL18A1|0.045578537|64.02%
View fam5 cleaned 3405_16 21 rs201180574
dbSNP Clinvar 		46924416 3070.0 CG... CG... PASS 1/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.01657 0.01657 0.03404 None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%

COL6A1
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 fam5 cleaned 3405_16 21 rs1980982
dbSNP Clinvar 		47410931 1575.0 T C PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.54493 0.54490 0.37606 None None None None None None COL6A1|0.085741402|53.99%

COL6A2
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 fam5 cleaned 3405_16 21 rs1042917
dbSNP Clinvar 		47545768 529.0 G A PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.39397 0.39400 0.41296 0.10 0.98 None None None None None None COL6A2|0.07894144|55.42%
View fam5 cleaned 3405_16 21 rs9977394
dbSNP Clinvar 		47552130 691.0 A G PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.13978 0.13980 0.15080 None None None None None None COL6A2|0.07894144|55.42%
View fam5 cleaned 3405_16 21 rs6652
dbSNP Clinvar 		47552385 348.0 C T PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.09245 0.09245 0.16731 None None None None None None COL6A2|0.07894144|55.42%
View fam5 cleaned 3405_16 21 rs13052956
dbSNP Clinvar 		47545823 611.0 G A PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.39417 0.39420 0.41273 None None None None None None COL6A2|0.07894144|55.42%
View fam5 cleaned 3405_16 21 rs13046639
dbSNP Clinvar 		47545826 525.0 C T PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.39397 0.39400 0.41258 None None None None None None COL6A2|0.07894144|55.42%
View fam5 cleaned 3405_16 21 rs2839110
dbSNP Clinvar 		47538960 3070.0 G A PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.70527 0.70530 0.27077 0.91 0.00 None None None None None None COL6A2|0.07894144|55.42%

CRYAA
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 fam5 cleaned 3405_16 21 rs756009745
dbSNP Clinvar 		44589920 191.0 GC G PASS 0/1 0 None None None None None None None None None CRYAA|0.039898534|65.8%

CXADR
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 fam5 cleaned 3405_16 21 rs61750981
dbSNP Clinvar 		18924189 381.0 A G PASS 0/1 34 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05751 0.05751 0.05713 None None None None None None CXADR|0.080142991|55.13%

CYYR1
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 fam5 cleaned 3405_16 21 rs966410
dbSNP Clinvar 		27852724 3070.0 A G PASS 1/1 82 None None None 0.45667 0.45670 0.49116 None None None None None None CYYR1|0.026615152|71.08%

DIP2A
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 fam5 cleaned 3405_16 21 rs7279002
dbSNP Clinvar 		47910523 2936.0 A G PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.35883 0.35880 0.29676 None None None None None None DIP2A|0.064095824|58.86%
View fam5 cleaned 3405_16 21 rs2070435
dbSNP Clinvar 		47961711 1539.0 G A PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.38738 0.38740 0.37032 None None None None None None DIP2A|0.064095824|58.86%
View fam5 cleaned 3405_16 21 rs1107065
dbSNP Clinvar 		47974582 711.0 A G PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.33167 0.33170 0.35504 None None None None None None DIP2A|0.064095824|58.86%

DOPEY2
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 fam5 cleaned 3405_16 21 rs3746866
dbSNP Clinvar 		37617724 256.0 C A PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.17153 0.17150 0.12325 0.00 0.00 None None None None None None DOPEY2|0.051933664|62.08%
View fam5 cleaned 3405_16 21 rs4817788
dbSNP Clinvar 		37617630 2972.0 T G PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.94928 0.94930 0.09949 1.00 0.00 None None None None None None DOPEY2|0.051933664|62.08%

DSCAM
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 fam5 cleaned 3405_16 21 rs7275460
dbSNP Clinvar 		41447058 561.0 G C PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.05371 0.05371 0.03867 None None None None None None DSCAM|0.620706258|11.07%
View fam5 cleaned 3405_16 21 rs116157569
dbSNP Clinvar 		41465793 414.0 G A PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.00659 0.00659 0.00897 None None None None None None DSCAM|0.620706258|11.07%
View fam5 cleaned 3405_16 21 rs16999204
dbSNP Clinvar 		41416066 328.0 C T PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.08946 0.08946 0.07291 None None None None None None DSCAM|0.620706258|11.07%

DSCR4
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 fam5 cleaned 3405_16 21 rs2836061
dbSNP Clinvar 		39325234 1246.0 C T PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.28255 0.28250 0.00 0.39 None None None None None None DSCR4|0.001091323|94.96%

DSCR8
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 fam5 cleaned 3405_16 21 rs61748275
dbSNP Clinvar 		39528454 514.0 G T PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.02736 0.02736 None None None None None None DSCR8|0.004578733|86.33%
View fam5 cleaned 3405_16 21 rs61748263
dbSNP Clinvar 		39528416 422.0 G A PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.02736 0.02736 0.00 0.50 None None None None None None DSCR8|0.004578733|86.33%

ERG
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 fam5 cleaned 3405_16 21 rs17230484
dbSNP Clinvar 		39775558 441.0 G A PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.00619 0.00619 0.01499 None None None None None None ERG|0.750269513|7.08%

ETS2
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 fam5 cleaned 3405_16 21 rs461155
dbSNP Clinvar 		40191638 2022.0 A G PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.58067 0.58070 0.22943 None None None None None None ETS2|0.453014646|18.03%
View fam5 cleaned 3405_16 21 rs457705
dbSNP Clinvar 		40191431 1917.0 T G PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.58107 0.58110 0.22874 None None None None None None ETS2|0.453014646|18.03%

FAM3B
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 fam5 cleaned 3405_16 21 rs417708
dbSNP Clinvar 		42717662 1195.0 T C PASS 1/1 26 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.11256 None None None None None None FAM3B|0.008580766|82.07%

FTCD
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 fam5 cleaned 3405_16 21 rs1047179
dbSNP Clinvar 		47558473 374.0 G C PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.48103 0.48100 0.47133 None None None None None None FTCD|0.026135815|71.26%
View fam5 cleaned 3405_16 21 rs12774
dbSNP Clinvar 		47556793 1244.0 C T PASS 1/1 39 None None None 0.55192 0.55190 0.00 None None None None None None FTCD|0.026135815|71.26%

GART
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 fam5 cleaned 3405_16 21 rs8788
dbSNP Clinvar 		34897113 2321.0 C T PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.87420 0.87420 0.19160 1.00 0.00 None None None None None None GART|0.670681358|9.36%

GRIK1
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 fam5 cleaned 3405_16 21 rs363538
dbSNP Clinvar 		31062070 1551.0 T G PASS 1/1 60 SYNONYMOUS_CODING LOW None 0.34026 0.34030 0.26911 None None None None None None GRIK1|0.993633799|0.9%

HLCS
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 fam5 cleaned 3405_16 21 rs149736764
dbSNP Clinvar 		38137321 604.0 C T PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.00260 0.00260 0.00285 0.02 0.04 None None None None None None HLCS|0.002146669|90.61%

HMGN1
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 fam5 cleaned 3405_16 21 rs34613278
dbSNP Clinvar 		40720494 126.0 C T PASS 0/1 5 None None None 0.05911 0.05911 0.07683 0.22 0.00 None None None None None None HMGN1|0.109298147|49.32%

HUNK
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 fam5 cleaned 3405_16 21 rs9305483
dbSNP Clinvar 		33370900 456.0 T C PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.63478 0.63480 0.38182 None None None None None None HUNK|0.065973255|58.37%
View fam5 cleaned 3405_16 21 rs2070371
dbSNP Clinvar 		33368188 441.0 T C PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.70308 0.70310 0.25704 None None None None None None HUNK|0.065973255|58.37%

ICOSLG
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 fam5 cleaned 3405_16 21 rs13052840
dbSNP Clinvar 		45649848 3070.0 T C PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.62280 0.62280 None None None None None None ICOSLG|0.0015876|92.37%
View fam5 cleaned 3405_16 21 rs4818891
dbSNP Clinvar 		45649543 611.0 G C PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.00 None None None None None None ICOSLG|0.0015876|92.37%
View fam5 cleaned 3405_16 21 rs4568033
dbSNP Clinvar 		45649778 3004.0 A G PASS 1/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.70687 0.70690 0.00 None None None None None None ICOSLG|0.0015876|92.37%
View fam5 cleaned 3405_16 21 rs7278772
dbSNP Clinvar 		45649494 2915.0 A G PASS 1/1 54 SYNONYMOUS_CODING LOW None None None None None None None ICOSLG|0.0015876|92.37%

IFNAR1
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 fam5 cleaned 3405_16 21 rs9981753
dbSNP Clinvar 		34713317 449.0 T C PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.01897 0.01897 0.01984 None None None None None None IFNAR1|0.002595288|89.49%
View fam5 cleaned 3405_16 21 rs2257167
dbSNP Clinvar 		34715699 2032.0 G C PASS 1/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.22883 0.22880 0.14301 0.17 0.42 None None None None None None IFNAR1|0.002595288|89.49%

IFNAR2
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 fam5 cleaned 3405_16 21 rs1131668
dbSNP Clinvar 		34634878 613.0 G A PASS 0/1 26 None None None 0.43530 0.43530 0.14 0.02 None None None None None None IFNAR2|0.001133002|94.77%