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+ Genes 133

+ Genes associated with diseases 27

Genes at Omim

AIRE, C21orf59, CBS, CLDN14, COL18A1, COL6A2, CRYAA, FTCD, IFNAR2, IFNGR2, ITGB2, KCNE1, 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)
CLDN14 Deafness, autosomal recessive 29, 614035 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (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)
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)
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, CLDN14, COL18A1, COL6A2, CRYAA, FTCD, IFNAR2, IFNGR2, IL10RB, ITGB2, KCNE1, 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
CLDN14 Deafness, autosomal recessive 29
COL18A1 Knobloch syndrome 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
IFNGR2 Immunodeficiency 28
IL10RB Inflammatory bowel disease 25, early onset, autosomal recessive
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
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: 6110
Number of Genes: 133

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 gg_mutation_report 21 rs436525
dbSNP Clinvar 		28212760 0.0 G A flt 1/1 116 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.32493 None None None None None None ADAMTS1|0.304173311|27.34%
View gg_mutation_report 21 rs3838076
dbSNP Clinvar 		28215827 0.0 A ACAA flt 1/1 179 None None None None None None None None None ADAMTS1|0.304173311|27.34%
View gg_mutation_report 21 . 28215837 0.0 CC C flt 1/1 159 None None None None None None None None None ADAMTS1|0.304173311|27.34%
View gg_mutation_report 21 rs370850
dbSNP Clinvar 		28216066 0.0 C T flt 1/1 101 None None None 0.68810 0.68810 0.20276 None None None None None None ADAMTS1|0.304173311|27.34%
View gg_mutation_report 21 rs428785
dbSNP Clinvar 		28216595 0.0 C G flt 1/1 66 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 gg_mutation_report 21 rs409630
dbSNP Clinvar 		28216674 0.0 G C PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.17672 0.17670 0.15723 None None None None None None ADAMTS1|0.304173311|27.34%
View gg_mutation_report 21 rs445784
dbSNP Clinvar 		28216692 0.0 G T flt 1/1 33 SYNONYMOUS_CODING LOW None 0.67812 0.67810 0.16880 None None None None None None ADAMTS1|0.304173311|27.34%
View gg_mutation_report 21 rs434857
dbSNP Clinvar 		28217178 0.0 T G flt 1/1 5 SYNONYMOUS_CODING LOW None 0.68890 0.68890 0.17773 None None None None None None ADAMTS1|0.304173311|27.34%
View gg_mutation_report 21 . 28217194 0.0 G A flt 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.00 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 gg_mutation_report 21 rs226794
dbSNP Clinvar 		28302355 0.0 A G flt 1/1 93 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 gg_mutation_report 21 rs2830585
dbSNP Clinvar 		28305212 0.0 C T flt 0/1 146 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%
View gg_mutation_report 21 rs55933916
dbSNP Clinvar 		28338423 0.0 C G flt 0/1 17 SYNONYMOUS_CODING LOW None 0.09924 0.09924 0.16703 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 gg_mutation_report 21 rs1051367
dbSNP Clinvar 		46641968 0.0 G A flt 1/1 17 SYNONYMOUS_CODING LOW None 0.49401 0.49400 0.49692 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 gg_mutation_report 21 rs456067
dbSNP Clinvar 		15974409 0.0 T C flt 1/1 127 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 gg_mutation_report 21 . 45712246 0.0 G T flt 0/1 4 STOP_GAINED HIGH None None None None None None None AIRE|0.006628229|83.92%
View gg_mutation_report 21 rs878081
dbSNP Clinvar 		45708277 0.0 C T flt 0/1 61 SYNONYMOUS_CODING LOW None 0.13319 0.13320 0.18679 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 gg_mutation_report 21 rs2187120
dbSNP Clinvar 		47612466 0.0 A G flt 1/1 4 SYNONYMOUS_CODING LOW None 0.58087 0.58090 None None None None None None LSS|0.346361251|24.39%
View gg_mutation_report 21 rs773878575
dbSNP Clinvar 		47612599 0.0 G A flt 0/1 8 SYNONYMOUS_CODING LOW None None None None None None None LSS|0.346361251|24.39%
View gg_mutation_report 21 rs2187121
dbSNP Clinvar 		47612471 0.0 T C flt 1/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.58087 0.58090 0.19 0.92 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 gg_mutation_report 21 rs4591
dbSNP Clinvar 		35281393 0.0 A G flt 0/1 109 SYNONYMOUS_CODING LOW None 0.70208 0.70210 0.29940 None None None None None None ATP5O|0.055947808|60.93%
View gg_mutation_report 21 rs9980730
dbSNP Clinvar 		35275955 0.0 G A flt 1/1 42 None None None 0.99101 0.99100 0.02237 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 gg_mutation_report 21 rs734413
dbSNP Clinvar 		41032804 0.0 G A flt 0/1 22 SYNONYMOUS_CODING LOW None 0.62939 0.62940 0.33746 None None None None None None B3GALT5|0.004441095|86.45%
View gg_mutation_report 21 rs3746887
dbSNP Clinvar 		41032740 0.0 T C flt 0/1 22 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%

BACE2
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 gg_mutation_report 21 rs1046210
dbSNP Clinvar 		42622786 0.0 C T flt 0/1 185 SYNONYMOUS_CODING LOW None 0.41893 0.41890 0.30132 None None None None None None BACE2|0.031049204|68.94%

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 gg_mutation_report 21 rs388707
dbSNP Clinvar 		30714776 0.0 T C flt 0/1 59 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.49285 None None None None None None BACH1|0.113830282|48.51%

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 gg_mutation_report 21 rs6517529
dbSNP Clinvar 		40584598 0.0 C T flt 1/1 69 SYNONYMOUS_CODING LOW None 0.85164 0.85160 0.05362 None None None None None None BRWD1|0.163713366|41.06%
View gg_mutation_report 21 rs1041439
dbSNP Clinvar 		40571246 0.0 A G flt 1/1 173 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 gg_mutation_report 21 rs2183573
dbSNP Clinvar 		40574305 0.0 A G flt 1/1 124 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%

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 gg_mutation_report 21 rs220111
dbSNP Clinvar 		43523941 0.0 C A PASS 0/1 107 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%
View gg_mutation_report 21 rs11701371
dbSNP Clinvar 		43523972 0.0 G C flt 0/1 109 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 gg_mutation_report 21 rs11552066
dbSNP Clinvar 		45750145 0.0 T C flt 1/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.08626 0.08626 0.08761 0.21 0.40 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 gg_mutation_report 21 rs968714
dbSNP Clinvar 		45553596 0.0 T C flt 1/1 15 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 gg_mutation_report 21 rs7676
dbSNP Clinvar 		45565473 0.0 C T flt 1/1 102 None None None 0.75200 0.75200 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 gg_mutation_report 21 rs72564613
dbSNP Clinvar 		34169317 0.0 C CT flt 0/1 102 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%

C21orf58
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 gg_mutation_report 21 rs13047478
dbSNP Clinvar 		47734659 0.0 G A flt 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.28794 0.28790 0.26590 0.19 0.07 None None None None None None C21orf58|0.001829013|91.47%

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 gg_mutation_report 21 rs1783091
dbSNP Clinvar 		33964605 0.0 T C flt 0/1 67 None None None 0.21586 0.21590 0.00 None None None None None None C21orf59|0.034467568|67.63%
View gg_mutation_report 21 rs7278762
dbSNP Clinvar 		33964612 0.0 G A flt 0/1 69 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 gg_mutation_report 21 rs74617086
dbSNP Clinvar 		34166190 0.0 A T flt 1/1 77 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 gg_mutation_report 21 rs2231390
dbSNP Clinvar 		34166343 0.0 C T flt 0/1 94 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%

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 gg_mutation_report 21 rs662571
dbSNP Clinvar 		40969826 0.0 G C flt 1/1 9 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%

C21orf91
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 gg_mutation_report 21 rs1047978
dbSNP Clinvar 		19169155 0.0 G C flt 0/1 146 NON_SYNONYMOUS_CODING MODERATE None 0.26058 0.26060 0.25946 0.08 0.97 None None None None None None C21orf91|0.173207879|39.92%

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 gg_mutation_report 21 rs3746906
dbSNP Clinvar 		43327856 0.0 A G flt 0/1 54 SYNONYMOUS_CODING LOW None 0.60743 0.60740 0.36568 None None None None None None C2CD2|0.005649792|85.05%
View gg_mutation_report 21 rs3746904
dbSNP Clinvar 		43327793 0.0 C T flt 0/1 36 SYNONYMOUS_CODING LOW None 0.36582 0.36580 0.35322 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 gg_mutation_report 21 rs1005696
dbSNP Clinvar 		37443480 0.0 T G flt 1/1 175 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 gg_mutation_report 21 rs881712
dbSNP Clinvar 		37507769 0.0 C T flt 1/1 95 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.30851 0.30850 0.33905 None None None None None None CBR3|0.052541759|61.89%
View gg_mutation_report 21 rs881711
dbSNP Clinvar 		37507745 0.0 C T flt 1/1 83 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%
View gg_mutation_report 21 rs8133052
dbSNP Clinvar 		37507501 0.0 G A flt 1/1 15 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 gg_mutation_report 21 rs73906420
dbSNP Clinvar 		44485590 0.0 C T flt 0/1 16 SYNONYMOUS_CODING LOW None 0.00439 0.00439 0.00684 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 gg_mutation_report 21 rs62229404
dbSNP Clinvar 		37759957 0.0 C T flt 0/1 299 NON_SYNONYMOUS_CODING MODERATE None 0.04014 0.04014 0.06374 0.05 0.03 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 gg_mutation_report 21 rs219779
dbSNP Clinvar 		37833751 0.0 G A flt 0/1 46 SYNONYMOUS_CODING LOW None 0.19010 0.19010 0.27626 None None None None None None CLDN14|0.178050404|39.29%
View gg_mutation_report 21 rs219780
dbSNP Clinvar 		37833307 0.0 C T flt 0/1 195 SYNONYMOUS_CODING LOW None 0.13538 0.13540 0.22313 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 gg_mutation_report 21 . 31538767 0.0 G T flt 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 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 gg_mutation_report 21 rs686364
dbSNP Clinvar 		31587793 0.0 A G flt 1/1 109 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gg_mutation_report 21 rs6517254
dbSNP Clinvar 		36080290 0.0 C T flt 1/1 84 SYNONYMOUS_CODING LOW None 0.37001 0.37000 0.46179 None None None None None None CLIC6|0.002510101|89.68%
View gg_mutation_report 21 . 36042720 0.0 G T flt 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.24 None None None None None None CLIC6|0.002510101|89.68%

COL18A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gg_mutation_report 21 rs13046486
dbSNP Clinvar 		46898243 0.0 C G flt 0/1 186 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 gg_mutation_report 21 . 46924439 0.0 CC... C PASS 1/1 12 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View gg_mutation_report 21 rs914230
dbSNP Clinvar 		46875564 0.0 T C flt 1/1 180 SYNONYMOUS_CODING LOW None 0.98842 0.98840 0.03067 None None None None None None COL18A1|0.045578537|64.02%

COL6A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gg_mutation_report 21 rs2839110
dbSNP Clinvar 		47538960 0.0 G A flt 0/1 136 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 gg_mutation_report 21 rs9977394
dbSNP Clinvar 		47552130 0.0 A G flt 0/1 65 SYNONYMOUS_CODING LOW None 0.13978 0.13980 0.15080 None None None None None None COL6A2|0.07894144|55.42%
View gg_mutation_report 21 rs758061270
dbSNP Clinvar 		47552164 0.0 G A flt 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.98 None None None None None None COL6A2|0.07894144|55.42%
View gg_mutation_report 21 rs6652
dbSNP Clinvar 		47552385 0.0 C T flt 0/1 8 SYNONYMOUS_CODING LOW None 0.09245 0.09245 0.16731 None None None None None None COL6A2|0.07894144|55.42%

CRYAA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gg_mutation_report 21 rs872331
dbSNP Clinvar 		44589215 0.0 C T flt 0/1 65 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 gg_mutation_report 21 rs111332667
dbSNP Clinvar 		34969609 0.0 C A flt 0/1 409 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00400 0.01 0.05 None None None None None None CRYZL1|0.143917113|43.88%

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 gg_mutation_report 21 rs966410
dbSNP Clinvar 		27852724 0.0 A G flt 1/1 37 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gg_mutation_report 21 rs1107065
dbSNP Clinvar 		47974582 0.0 A G flt 0/1 121 SYNONYMOUS_CODING LOW None 0.33167 0.33170 0.35504 None None None None None None DIP2A|0.064095824|58.86%
View gg_mutation_report 21 rs2248636
dbSNP Clinvar 		47985655 0.0 C T flt 0/1 83 SYNONYMOUS_CODING LOW None 0.12001 0.12000 0.06148 None None None None None None DIP2A|0.064095824|58.86%

DNAJC28
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gg_mutation_report 21 . 34860756 0.0 AT... A PASS 0/1 112 FRAME_SHIFT HIGH None 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 gg_mutation_report 21 rs7354779
dbSNP Clinvar 		45670770 0.0 T C flt 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.16514 0.16510 0.25496 0.00 0.43 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 gg_mutation_report 21 rs4817788
dbSNP Clinvar 		37617630 0.0 T G flt 1/1 24 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 gg_mutation_report 21 rs9978057
dbSNP Clinvar 		37664501 0.0 G A flt 1/1 53 SYNONYMOUS_CODING LOW None 0.19449 0.19450 0.27188 None None None None None None DOPEY2|0.051933664|62.08%

DSCAM
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gg_mutation_report 21 rs2297270
dbSNP Clinvar 		41725630 0.0 G C flt 0/1 62 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%

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 gg_mutation_report 21 rs461155
dbSNP Clinvar 		40191638 0.0 A G flt 1/1 19 SYNONYMOUS_CODING LOW None 0.58067 0.58070 0.22943 None None None None None None ETS2|0.453014646|18.03%
View gg_mutation_report 21 rs457705
dbSNP Clinvar 		40191431 0.0 T G flt 1/1 263 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 gg_mutation_report 21 rs2838012
dbSNP Clinvar 		42694870 0.0 G A flt 0/1 183 NON_SYNONYMOUS_CODING MODERATE None 0.05831 0.05831 0.08435 0.01 0.06 None None None None None None FAM3B|0.008580766|82.07%
View gg_mutation_report 21 rs417708
dbSNP Clinvar 		42717662 0.0 T C flt 1/1 82 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.11256 None None None None None None FAM3B|0.008580766|82.07%

FKSG68
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 gg_mutation_report 21 . 37270712 0.0 G A flt 0/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.62 None None None None None None RUNX1|0.998765461|0.45%

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 gg_mutation_report 21 rs1047179
dbSNP Clinvar 		47558473 0.0 G C flt 0/1 6 SYNONYMOUS_CODING LOW None 0.48103 0.48100 0.47133 None None None None None None FTCD|0.026135815|71.26%
View gg_mutation_report 21 rs12774
dbSNP Clinvar 		47556793 0.0 C T flt 0/1 111 None None None 0.55192 0.55190 0.00 None None None None None None FTCD|0.026135815|71.26%

GABPA
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 gg_mutation_report 21 . 27124484 0.0 A G flt 0/1 220 SYNONYMOUS_CODING LOW None None None None None None None GABPA|0.49366631|16.15%

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 gg_mutation_report 21 rs8971
dbSNP Clinvar 		34883618 0.0 T C flt 0/1 258 NON_SYNONYMOUS_CODING MODERATE None 0.15216 0.15220 0.17361 0.27 0.30 None None None None None None GART|0.670681358|9.36%
View gg_mutation_report 21 rs8788
dbSNP Clinvar 		34897113 0.0 C T flt 1/1 109 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%

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 gg_mutation_report 21 rs2070371
dbSNP Clinvar 		33368188 0.0 T C flt 1/1 40 SYNONYMOUS_CODING LOW None 0.70308 0.70310 0.25704 None None None None None None HUNK|0.065973255|58.37%
View gg_mutation_report 21 rs9305483
dbSNP Clinvar 		33370900 0.0 T C flt 1/1 120 SYNONYMOUS_CODING LOW None 0.63478 0.63480 0.38182 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 gg_mutation_report 21 rs4818891
dbSNP Clinvar 		45649543 0.0 G C flt 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.01 None None None None None None ICOSLG|0.0015876|92.37%
View gg_mutation_report 21 rs13052840
dbSNP Clinvar 		45649848 0.0 T C flt 1/1 23 SYNONYMOUS_CODING LOW None 0.62280 0.62280 None None None None None None ICOSLG|0.0015876|92.37%
View gg_mutation_report 21 rs4568033
dbSNP Clinvar 		45649778 0.0 A G flt 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.70687 0.70690 0.00 None None None None None None ICOSLG|0.0015876|92.37%
View gg_mutation_report 21 rs4511811
dbSNP Clinvar 		45649666 0.0 G A flt 1/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.26717 0.26720 0.01 0.86 None None None None None None ICOSLG|0.0015876|92.37%
View gg_mutation_report 21 rs7278772
dbSNP Clinvar 		45649494 0.0 A G flt 1/1 49 SYNONYMOUS_CODING LOW None None None None None None None ICOSLG|0.0015876|92.37%

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 gg_mutation_report 21 . 34614266 0.0 T G flt 0/1 77 SYNONYMOUS_CODING LOW None None None None None None None IFNAR2|0.001133002|94.77%

IFNGR2
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 gg_mutation_report 21 rs9808753
dbSNP Clinvar 		34787312 0.0 A G flt 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.27197 0.27200 0.16715 0.91 0.01 None None None None None None IFNGR2|0.002693249|89.26%

IGHV1OR21-1
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 gg_mutation_report 21 rs3916645
dbSNP Clinvar 		10862846 0.0 A T flt 1/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.87320 0.87320 0.06054 1.00 0.00 None None None None None None None
View gg_mutation_report 21 rs1961808
dbSNP Clinvar 		10862853 0.0 G A flt 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.39015 0.18 0.00 None None None None None None None
View gg_mutation_report 21 rs1807747
dbSNP Clinvar 		10862874 0.0 A G flt 1/1 279 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None None
View gg_mutation_report 21 rs3883944
dbSNP Clinvar 		10862947 0.0 G A flt 1/1 919 SYNONYMOUS_CODING LOW None None None None None None None None

IGSF5
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 gg_mutation_report 21 rs2205204
dbSNP Clinvar 		41137507 0.0 G C flt 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.65955 0.65950 0.35499 1.00 0.00 None None None None None None IGSF5|0.001638685|92.17%
View gg_mutation_report 21 rs12626544
dbSNP Clinvar 		41137499 0.0 A G flt 0/1 76 SYNONYMOUS_CODING LOW None 0.39597 0.39600 0.30478 None None None None None None IGSF5|0.001638685|92.17%

IL10RB
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 gg_mutation_report 21 rs2834167
dbSNP Clinvar 		34640788 0.0 A G flt 0/1 157 NON_SYNONYMOUS_CODING MODERATE None 0.33946 0.33950 0.21452 0.05 0.08 None None None None None None IL10RB|0.007758593|82.81%

ITGB2
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 gg_mutation_report 21 rs235326
dbSNP Clinvar 		46311813 0.0 A G flt 1/1 56 SYNONYMOUS_CODING LOW None 0.76298 0.76300 0.24985 None None None None None None ITGB2|0.063174571|59.06%
View gg_mutation_report 21 rs235330
dbSNP Clinvar 		46314907 0.0 T A flt 1/1 90 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00015 0.03 0.01 None None None None None None ITGB2|0.063174571|59.06%