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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 130

+ Genes associated with diseases 25

Genes at Omim

AIRE, C21orf59, CBS, COL18A1, COL6A1, COL6A2, CRYAA, FTCD, IFNAR2, ITGB2, KCNJ6, LIPI, LSS, MCM3AP, NRIP1, PCNT, PFKL, PIGP, RIPK4, RSPH1, SIK1, SON, SYNJ1, TMPRSS15, TMPRSS3,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)
C21orf59 Ciliary dyskinesia, primary, 26, 615500 (3)
CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Thrombosis, hyperhomocysteinemic, 236200 (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)
IFNAR2 {Hepatitis B virus, susceptibility to}, 610424 (3)
?Immunodeficiency 45, 616669 (3)
ITGB2 Leukocyte adhesion deficiency, 116920 (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)
PFKL Hemolytic anemia due to phosphofructokinase deficiency (1)
PIGP ?Epileptic encephalopathy, early infantile, 55, 617599 (3)
RIPK4 CHAND syndrome, 214350 (3)
Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3)
RSPH1 Ciliary dyskinesia, primary, 24, 615481 (3)
SIK1 Epileptic encephalopathy, early infantile, 30, 616341 (3)
SON ZTTK syndrome, 617140 (3)
SYNJ1 Epileptic encephalopathy, early infantile, 53, 617389 (3)
Parkinson disease 20, early-onset, 615530 (3)
TMPRSS15 Enterokinase deficiency, 226200 (3)
TMPRSS3 Deafness, autosomal recessive 8/10, 601072 (3)

Genes at Clinical Genomics Database

AIRE, CBS, COL18A1, COL6A1, COL6A2, CRYAA, FTCD, IFNAR2, ITGB2, KCNJ6, LIPI, LSS, NRIP1, PCNT, RIPK4, RSPH1, SIK1, TMPRSS15, TMPRSS3,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
CBS Homocystinuria due to cystathionine beta-synthase deficiency
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
IFNAR2 Immunodeficiency 45
ITGB2 Leukocyte adhesion deficiency, type I
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
RSPH1 Ciliary dyskinesia, primary, 24
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: 2520
Number of Genes: 130

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 combined sample_49.variant13 21 rs428785
dbSNP Clinvar 		28216595 1039.43 C G PASS 1/1 176 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 combined sample_49.variant13 21 rs434857
dbSNP Clinvar 		28217178 1297.49 T G PASS 1/1 124 SYNONYMOUS_CODING LOW None 0.68890 0.68890 0.17773 None None None None None None ADAMTS1|0.304173311|27.34%
View combined sample_49.variant13 21 rs373460567
dbSNP Clinvar 		28215826 490.61 C CACA PASS 1/1 61 None None None None None None None None None ADAMTS1|0.304173311|27.34%
View combined sample_49.variant13 21 rs3838077,rs397841322
dbSNP Clinvar 		28215836 380.84 GC G PASS 1/1 52 None None None 0.68890 0.68890 None None None None None None ADAMTS1|0.304173311|27.34%
View combined sample_49.variant13 21 rs445784
dbSNP Clinvar 		28216692 1612.93 G T PASS 1/1 167 SYNONYMOUS_CODING LOW None 0.67812 0.67810 0.16880 None None None None None None ADAMTS1|0.304173311|27.34%
View combined sample_49.variant13 21 rs436525
dbSNP Clinvar 		28212760 611.18 G A PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.32493 None None None None None None ADAMTS1|0.304173311|27.34%
View combined sample_49.variant13 21 rs370850
dbSNP Clinvar 		28216066 597.17 C T PASS 1/1 54 None None None 0.68810 0.68810 0.20276 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 combined sample_49.variant13 21 . 28338027 2991.38 C T PASS 0/1 256 SYNONYMOUS_CODING LOW None None None None None None None ADAMTS5|0.324991256|25.8%
View combined sample_49.variant13 21 rs3746839
dbSNP Clinvar 		28296389 2095.96 A G PASS 0/1 158 SYNONYMOUS_CODING LOW None 0.03215 0.03215 0.02053 None None None None None None ADAMTS5|0.324991256|25.8%
View combined sample_49.variant13 21 rs226794
dbSNP Clinvar 		28302355 3743.94 A G PASS 1/1 109 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%

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 combined sample_49.variant13 21 rs1051367
dbSNP Clinvar 		46641968 939.97 G A PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.49401 0.49400 0.49692 None None None None None None ADARB1|0.037848146|66.51%
View combined sample_49.variant13 21 rs2838798
dbSNP Clinvar 		46595844 1129.47 C T PASS 0/1 92 SYNONYMOUS_CODING LOW None 0.00978 0.00978 0.01238 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 combined sample_49.variant13 21 rs456067
dbSNP Clinvar 		15974409 836.2 T C PASS 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None None
View combined sample_49.variant13 21 . 15985226 339.1 C T PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.81 0.77 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 combined sample_49.variant13 21 rs1800521
dbSNP Clinvar 		45712977 572.03 T C PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.35623 0.35620 0.39350 None None None None None None AIRE|0.006628229|83.92%
View combined sample_49.variant13 21 rs1133779
dbSNP Clinvar 		45717550 1142.76 T C PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.53035 0.53040 0.49438 None None None None None None AIRE|0.006628229|83.92%
View combined sample_49.variant13 21 rs1800520
dbSNP Clinvar 		45709906 2328.34 C G PASS 0/1 206 NON_SYNONYMOUS_CODING MODERATE None 0.22824 0.22820 0.15638 1.00 0.00 None None None None None None AIRE|0.006628229|83.92%

AP001468.1
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 combined sample_49.variant13 21 rs2187121
dbSNP Clinvar 		47612471 10671.4 T C PASS 0/1 239 NON_SYNONYMOUS_CODING MODERATE None 0.58087 0.58090 0.19 0.92 None None None None None None LSS|0.346361251|24.39%
View combined sample_49.variant13 21 rs2187120
dbSNP Clinvar 		47612466 10157.2 A G PASS 0/1 237 SYNONYMOUS_CODING LOW None 0.58087 0.58090 None None None None None None LSS|0.346361251|24.39%
View combined sample_49.variant13 21 rs2187122
dbSNP Clinvar 		47613004 8512.42 T C PASS 1/1 246 SYNONYMOUS_CODING LOW None 0.69329 0.69330 None None None None None None LSS|0.346361251|24.39%
View combined sample_49.variant13 21 rs73908575,rs146297977
dbSNP Clinvar 		47612512 8973.46 C CTG,G PASS 1/1 228 FRAME_SHIFT HIGH None 0.01098 0.72100 None None None None None None LSS|0.346361251|24.39%

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 combined sample_49.variant13 21 rs9980730
dbSNP Clinvar 		35275955 4291.67 G A PASS 1/1 108 None None None 0.99101 0.99100 0.02237 None None None None None None ATP5O|0.055947808|60.93%
View combined sample_49.variant13 21 rs4591
dbSNP Clinvar 		35281393 1022.7 A G PASS 1/1 92 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 combined sample_49.variant13 21 rs3746887
dbSNP Clinvar 		41032740 2426.14 T C PASS 1/1 81 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 combined sample_49.variant13 21 rs734413
dbSNP Clinvar 		41032804 3218.97 G A PASS 1/1 98 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 combined sample_49.variant13 21 rs388707
dbSNP Clinvar 		30714776 2021.44 T C PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.49285 None None None None None None BACH1|0.113830282|48.51%
View combined sample_49.variant13 21 rs363431
dbSNP Clinvar 		30969901 826.6 T C PASS 0/1 54 None None None 0.61082 0.61080 0.00 0.00 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 combined sample_49.variant13 21 rs1041439
dbSNP Clinvar 		40571246 3145.78 A G PASS 1/1 64 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 combined sample_49.variant13 21 rs6517529
dbSNP Clinvar 		40584598 1682.37 C T PASS 1/1 61 SYNONYMOUS_CODING LOW None 0.85164 0.85160 0.05362 None None None None None None BRWD1|0.163713366|41.06%
View combined sample_49.variant13 21 rs2183573
dbSNP Clinvar 		40574305 1520.85 A G PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.61861 0.61860 0.40143 0.03 0.01 None None None None None None BRWD1|0.163713366|41.06%

C21orf119
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 combined sample_49.variant13 21 rs11702306
dbSNP Clinvar 		33765560 1162.63 C T PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.14876 0.14880 0.17258 0.86 None None None None None None URB1-AS1|0.000239892|99.68%

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 combined sample_49.variant13 21 rs220111
dbSNP Clinvar 		43523941 2003.18 C A PASS 1/1 167 NON_SYNONYMOUS_CODING MODERATE None 0.30631 0.30630 0.30740 0.03 0.74 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 combined sample_49.variant13 21 rs2070573
dbSNP Clinvar 		45750346 4594.66 C A PASS 0/1 305 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.26398 0.26400 None None None None None None C21orf2|0.021974871|73.18%
View combined sample_49.variant13 21 rs377579876
dbSNP Clinvar 		45751811 637.9 C T PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00008 0.40 0.00 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 combined sample_49.variant13 21 rs7676
dbSNP Clinvar 		45565473 1546.46 C T PASS 0/1 104 None None None 0.75200 0.75200 None None None None None None C21orf33|0.016835395|76%
View combined sample_49.variant13 21 rs968714
dbSNP Clinvar 		45553596 6445.68 T C PASS 0/1 422 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%

C21orf49
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 combined sample_49.variant13 21 rs72564613
dbSNP Clinvar 		34169317 3477.67 C CT PASS 0/1 141 FRAME_SHIFT HIGH None 0.73183 0.73180 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%

C21orf59
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 combined sample_49.variant13 21 rs1720127
dbSNP Clinvar 		33964609 3112.57 G A PASS 0/1 114 None None None 0.05451 0.05451 None None None None None None C21orf59|0.034467568|67.63%
View combined sample_49.variant13 21 rs1783091
dbSNP Clinvar 		33964605 3109.59 T C PASS 1/1 115 None None None 0.21586 0.21590 0.00 None None None None None None C21orf59|0.034467568|67.63%
View combined sample_49.variant13 21 rs146391380
dbSNP Clinvar 		33964722 369.21 CA C PASS 0/1 26 None None None 0.07149 0.07149 None None None None None None C21orf59|0.034467568|67.63%
View combined sample_49.variant13 21 rs138178722
dbSNP Clinvar 		33984477 1208.65 T G PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.00180 0.00139 0.22 0.00 None None None None None None C21orf59|0.034467568|67.63%
View combined sample_49.variant13 21 rs7278762
dbSNP Clinvar 		33964612 2925.34 G A PASS 0/1 110 None None None 0.14117 0.14120 None None None None None None C21orf59|0.034467568|67.63%

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 combined sample_49.variant13 21 rs74617086
dbSNP Clinvar 		34166190 4649.1 A T PASS 1/1 87 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 combined sample_49.variant13 21 rs2231390
dbSNP Clinvar 		34166343 4840.7 C T PASS 0/1 148 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 combined sample_49.variant13 21 rs11088971
dbSNP Clinvar 		46355710 1132.81 A G PASS 0/1 93 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 combined sample_49.variant13 21 rs662571
dbSNP Clinvar 		40969826 3672.09 G C PASS 1/1 166 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%

C2CD2
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 combined sample_49.variant13 21 rs3746906
dbSNP Clinvar 		43327856 2028.41 A G PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.60743 0.60740 0.36568 None None None None None None C2CD2|0.005649792|85.05%

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 combined sample_49.variant13 21 rs2230192
dbSNP Clinvar 		37445039 1120.5 G A PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.01358 0.01358 0.01561 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 combined sample_49.variant13 21 rs881711
dbSNP Clinvar 		37507745 5661.88 C T PASS 1/1 273 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%
View combined sample_49.variant13 21 rs881712
dbSNP Clinvar 		37507769 2216.91 C T PASS 0/1 262 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.30851 0.30850 0.33905 None None None None None None CBR3|0.052541759|61.89%
View combined sample_49.variant13 21 rs8133052
dbSNP Clinvar 		37507501 3909.88 G A PASS 1/1 228 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%

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 combined sample_49.variant13 21 rs234706
dbSNP Clinvar 		44485350 2462.08 G A PASS 1/1 62 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.19649 0.19650 0.30609 None None None None None None CBS|0.170288794|40.28%
View combined sample_49.variant13 21 rs35307078
dbSNP Clinvar 		44475876 1003.36 C T PASS 0/1 69 None None None 0.04932 0.04932 0.00 None None None None None None CBS|0.170288794|40.28%
View combined sample_49.variant13 21 rs760124
dbSNP Clinvar 		44475953 1541.8 T C PASS 0/1 128 None None None 0.05631 0.05631 0.01 0.00 None None None None None None CBS|0.170288794|40.28%

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 combined sample_49.variant13 21 rs686364
dbSNP Clinvar 		31587793 3447.59 A G PASS 0/1 122 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 combined sample_49.variant13 21 rs9680380
dbSNP Clinvar 		36042203 2979.6 G C PASS 1/1 73 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CLIC6|0.002510101|89.68%
View combined sample_49.variant13 21 rs7280973
dbSNP Clinvar 		36041978 925.62 A G PASS 1/1 26 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CLIC6|0.002510101|89.68%
View combined sample_49.variant13 21 rs6517254
dbSNP Clinvar 		36080290 2702.32 C T PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.37001 0.37000 0.46179 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 combined sample_49.variant13 21 rs149296338,rs78227997
dbSNP Clinvar 		46924425 1081.95 CG... C PASS 1/1 67 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View combined sample_49.variant13 21 rs13046486
dbSNP Clinvar 		46898243 1696.34 C G PASS 0/1 134 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.07388 0.07388 0.09354 None None None None None None COL18A1|0.045578537|64.02%
View combined sample_49.variant13 21 rs8133886
dbSNP Clinvar 		46876580 1284.37 C T PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.42652 0.42650 0.00 None None None None None None COL18A1|0.045578537|64.02%
View combined sample_49.variant13 21 rs11702494
dbSNP Clinvar 		46876306 2090.6 G A PASS 0/1 203 NON_SYNONYMOUS_CODING MODERATE None 0.20088 0.20090 0.25340 0.00 None None None None None None COL18A1|0.045578537|64.02%
View combined sample_49.variant13 21 rs2236452
dbSNP Clinvar 		46876173 2248.67 C T PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.20827 0.20830 0.20629 None None None None None None COL18A1|0.045578537|64.02%
View combined sample_49.variant13 21 rs11702425
dbSNP Clinvar 		46908355 1172.61 T C PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.31989 0.31990 0.31287 None None None None None None COL18A1|0.045578537|64.02%
View combined sample_49.variant13 21 rs189589098
dbSNP Clinvar 		46876156 1371.02 A C PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.00699 0.00699 0.00 None None None None None None COL18A1|0.045578537|64.02%
View combined sample_49.variant13 21 rs2236451
dbSNP Clinvar 		46876083 5996.74 A G PASS 0/1 122 SYNONYMOUS_CODING LOW None 0.37560 0.37560 0.38293 None None None None None None COL18A1|0.045578537|64.02%
View combined sample_49.variant13 21 rs914230
dbSNP Clinvar 		46875564 6315.94 T C,G PASS 1/1 285 NON_SYNONYMOUS_CODING MODERATE None 0.98842 0.98840 0.03067 0.00 None None None None None None COL18A1|0.045578537|64.02%
View combined sample_49.variant13 21 rs1050351
dbSNP Clinvar 		46929467 717.66 G A PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.50359 0.50360 0.37778 None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View combined sample_49.variant13 21 rs112723616
dbSNP Clinvar 		46900670 1532.61 C T PASS 0/1 139 SYNONYMOUS_CODING LOW None 0.01358 0.01358 0.01181 None None None None None None COL18A1|0.045578537|64.02%
View combined sample_49.variant13 21 rs12483761
dbSNP Clinvar 		46927489 727.63 A G PASS 0/1 83 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%

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 combined sample_49.variant13 21 rs1980982
dbSNP Clinvar 		47410931 3246.96 T C PASS 0/1 182 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 combined sample_49.variant13 21 rs13052956
dbSNP Clinvar 		47545823 4396.08 G A PASS 0/1 253 SYNONYMOUS_CODING LOW None 0.39417 0.39420 0.41273 None None None None None None COL6A2|0.07894144|55.42%
View combined sample_49.variant13 21 rs1042917
dbSNP Clinvar 		47545768 3409.68 G A PASS 0/1 211 NON_SYNONYMOUS_CODING MODERATE None 0.39397 0.39400 0.41296 0.10 0.99 None None None None None None COL6A2|0.07894144|55.42%
View combined sample_49.variant13 21 rs2276101
dbSNP Clinvar 		47545346 3763.39 C T PASS 0/1 216 None None None 0.13898 0.13900 0.05506 0.14 0.00 None None None None None None COL6A2|0.07894144|55.42%
View combined sample_49.variant13 21 rs13046639
dbSNP Clinvar 		47545826 4442.8 C T PASS 0/1 246 SYNONYMOUS_CODING LOW None 0.39397 0.39400 0.41258 None None None None None None COL6A2|0.07894144|55.42%
View combined sample_49.variant13 21 rs2839110
dbSNP Clinvar 		47538960 601.89 G A PASS 1/1 87 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%
View combined sample_49.variant13 21 rs2839114
dbSNP Clinvar 		47545913 2249.85 G A PASS 0/1 236 SYNONYMOUS_CODING LOW None 0.32209 0.32210 0.29156 None None None None None None COL6A2|0.07894144|55.42%
View combined sample_49.variant13 21 rs149954350
dbSNP Clinvar 		47545369 2866.66 A AC PASS 0/1 189 None None None 0.00060 0.15690 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 combined sample_49.variant13 21 rs872331
dbSNP Clinvar 		44589215 1063.8 C T PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.50000 0.50000 0.35630 None None None None None None CRYAA|0.039898534|65.8%

CRYZL1
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 combined sample_49.variant13 21 rs2834240
dbSNP Clinvar 		34968503 924.39 A G PASS 0/1 46 None None None 0.10363 0.10360 None None None None None None CRYZL1|0.143917113|43.88%

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 combined sample_49.variant13 21 rs437470
dbSNP Clinvar 		18937758 880.16 A G PASS 0/1 131 SYNONYMOUS_CODING LOW None 0.18710 0.18710 0.19099 None None None None None None CXADR|0.080142991|55.13%

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 combined sample_49.variant13 21 rs2248636
dbSNP Clinvar 		47985655 1536.18 C T PASS 0/1 122 SYNONYMOUS_CODING LOW None 0.12001 0.12000 0.06148 None None None None None None DIP2A|0.064095824|58.86%
View combined sample_49.variant13 21 rs2070435
dbSNP Clinvar 		47961711 2981.17 G A PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.38738 0.38740 0.37032 None None None None None None DIP2A|0.064095824|58.86%
View combined sample_49.variant13 21 rs7279002
dbSNP Clinvar 		47910523 2110.47 A G PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.35883 0.35880 0.29676 None None None None None None DIP2A|0.064095824|58.86%

DNAJC28
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 combined sample_49.variant13 21 rs142171090
dbSNP Clinvar 		34860790 1244.35 A G PASS 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.86 None None None None None None DNAJC28|0.046400837|63.77%

DNMT3L
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 combined sample_49.variant13 21 rs151001055
dbSNP Clinvar 		45671108 1681.38 C T PASS 0/1 139 None None None 0.00300 0.00300 None None None None None None DNMT3L|0.006860897|83.61%

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 combined sample_49.variant13 21 rs2835322
dbSNP Clinvar 		37609571 464.91 T C PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.43990 0.43990 0.47424 None None None None None None DOPEY2|0.051933664|62.08%
View combined sample_49.variant13 21 rs147991550
dbSNP Clinvar 		37618850 2228.8 G T PASS 0/1 175 SYNONYMOUS_CODING LOW None 0.00160 0.00160 0.00185 None None None None None None DOPEY2|0.051933664|62.08%
View combined sample_49.variant13 21 rs114471759
dbSNP Clinvar 		37602984 1895.6 C T PASS 0/1 151 SYNONYMOUS_CODING LOW None 0.00659 0.00659 0.00508 None None None None None None DOPEY2|0.051933664|62.08%
View combined sample_49.variant13 21 rs4817788
dbSNP Clinvar 		37617630 4583.49 T G PASS 0/1 149 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%
View combined sample_49.variant13 21 rs3827183
dbSNP Clinvar 		37661405 2913.81 G A PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.14457 0.14460 0.11925 0.24 0.13 None None None None None None DOPEY2|0.051933664|62.08%
View combined sample_49.variant13 21 . 37605322 1395.87 C T PASS 0/1 94 SYNONYMOUS_CODING LOW None 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 combined sample_49.variant13 21 rs2297270
dbSNP Clinvar 		41725630 719.35 G C PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.14257 0.14260 0.10516 0.92 0.00 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 combined sample_49.variant13 21 rs2836061
dbSNP Clinvar 		39325234 1058.96 C T PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.28255 0.28250 0.00 0.00 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 combined sample_49.variant13 21 rs2836172
dbSNP Clinvar 		39528455 9808.73 A T PASS 1/1 339 STOP_GAINED HIGH None 0.08826 0.08826 None None None None None None DSCR8|0.004578733|86.33%
View combined sample_49.variant13 21 rs151113199
dbSNP Clinvar 		39528399 2087.32 C A PASS 0/1 189 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00220 0.00220 0.00 0.62 None None None None None None DSCR8|0.004578733|86.33%

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 combined sample_49.variant13 21 rs457705
dbSNP Clinvar 		40191431 3207.81 T G PASS 1/1 125 SYNONYMOUS_CODING LOW None 0.58107 0.58110 0.22874 None None None None None None ETS2|0.453014646|18.03%
View combined sample_49.variant13 21 rs461155
dbSNP Clinvar 		40191638 2995.3 A G PASS 1/1 133 SYNONYMOUS_CODING LOW None 0.58067 0.58070 0.22943 None None None None None None ETS2|0.453014646|18.03%

FAM207A
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 combined sample_49.variant13 21 rs3737075
dbSNP Clinvar 		46396659 845.18 G C PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.15216 0.15220 0.17443 1.00 0.00 None None None None None None FAM207A|0.005455719|85.27%
View combined sample_49.variant13 21 rs2294168
dbSNP Clinvar 		46387078 1470.2 G T PASS 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.10923 0.10920 0.11783 0.07 0.56 None None None None None None FAM207A|0.005455719|85.27%