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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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CADD

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MCAP

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Genes at Omim

ASPN, ATXN3, LHCGR, LOR, MN1, PDE11A, TICAM1, TSPYL1,
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
ATXN3 Machado-Joseph disease, 109150 (3)
LHCGR Leydig cell adenoma, somatic, with precocious puberty, 176410 (3)
Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3)
Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3)
Luteinizing hormone resistance, female, 238320 (3)
Precocious puberty, male, 176410 (3)
LOR Vohwinkel syndrome with ichthyosis, 604117 (3)
MN1 Meningioma, 607174 (3)
PDE11A Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
TICAM1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
TSPYL1 Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)

Genes at Clinical Genomics Database

ATXN3, LHCGR, LOR, MN1, PDE11A, TICAM1, TSPYL1,
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
LHCGR Leydig cell hypoplasia type I
Leydig cell hypoplasia type II
Luteinizing hormone resistance, female
Precocious puberty, male
LOR Vohwinkel syndrome, variant form
MN1 Meningioma, familial
PDE11A Pigmented nodular adrenocortical disease, primary, 2
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TSPYL1 Sudden infant death with dysgenesis of the testes syndrome
46, XY disorder of sex development

Genes at HGMD

Summary

Number of Variants: 27
Number of Genes: 22

Export to: CSV
  • Page 1 of 1

ASPN

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 15ac02303_s1 genome 9 rs878929025,rs397838876,rs557103556
dbSNP Clinvar
95237024 3646.65 CTCA CT... PASS 1/2 114 CODON_INSERTION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%
View 15ac02303_s1 genome 9 . 95237026 0.0 C . LowGQX . 76 CODON_INSERTION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%
View 15ac02303_s1 genome 9 . 95237025 0.0 T . LowGQX . 76 CODON_INSERTION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%
View 15ac02303_s1 genome 9 . 95237027 0.0 A . LowGQX . 77 CODON_INSERTION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%

ATXN3

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 15ac02303_s1 genome 14 rs763541221
dbSNP Clinvar
92537354 23263.03 C CC... PASS 1/2 93 CODON_INSERTION MODERATE None None None None None None None ATXN3|0.681306976|9.03%

C2orf71

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 15ac02303_s1 genome 2 rs139768554
dbSNP Clinvar
29287926 2997.18 C CGCT PASS 0/1 177 CODON_INSERTION MODERATE None 0.37360 0.37360 0.31822 None None None None None None C2orf71|0.006399925|84.18%

CDC27

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 15ac02303_s1 genome 17 rs375653477
dbSNP Clinvar
45234673 267.34 T TGGC LowGQ;LowGQX 1/1 5 CODON_INSERTION MODERATE None None None None None None None CDC27|0.658499283|9.78%
View 15ac02303_s1 genome 17 rs372212798
dbSNP Clinvar
45234673 3.16 T C LowGQX;LowQD;SB 0/1 5 CODON_INSERTION MODERATE None None None None None None None CDC27|0.658499283|9.78%

CDK11A

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 15ac02303_s1 genome 1 rs144636354,rs199866927
dbSNP Clinvar
1647893 6339.41 C CT... PASS 0/1 141 CODON_INSERTION MODERATE None None None None None None None CDK11A|0.02662445|71.07%

CNDP1

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 15ac02303_s1 genome 18 . 72223591 1056.21 G GT... PASS 0/1 54 CODON_INSERTION MODERATE None None None None None None None CNDP1|0.024865105|71.86%

HAVCR1

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 15ac02303_s1 genome 5 . 156479573 0.0 T . LowGQX . 31 CODON_INSERTION MODERATE None None None None None None None HAVCR1|0.00064813|97.55%
View 15ac02303_s1 genome 5 . 156479569 0.0 G . LowGQX . 21 CODON_INSERTION MODERATE None None None None None None None HAVCR1|0.00064813|97.55%

KCNN3

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 15ac02303_s1 genome 1 rs3831942,rs56352724
dbSNP Clinvar
154842199 6661.54 G GG... PASS 1/2 113 CODON_INSERTION MODERATE None None None None None None None KCNN3|0.329640894|25.51%

LHCGR

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 15ac02303_s1 genome 2 rs376653903
dbSNP Clinvar
48982755 2871.62 G GG... PASS 0/1 120 CODON_INSERTION MODERATE None 0.14457 0.14460 0.19675 None None None None None None STON1-GTF2A1L|0.070736992|57.3%,LHCGR|0.657366853|9.81%

LOR

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 15ac02303_s1 genome 1 rs561634896,rs11272549
dbSNP Clinvar
153233991 1960.51 A AC... PASS 1/1 19 CODON_INSERTION MODERATE None 0.64836 0.64840 0.40271 None None None None None None LOR|0.059509519|60.04%

MAGI1

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 15ac02303_s1 genome 3 rs142043619,rs773463513
dbSNP Clinvar
65425560 301.84 T TCTG PASS 0/1 40 CODON_INSERTION MODERATE None 0.00340 None None None None None None MAGI1|0.767705528|6.67%

MED15

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 15ac02303_s1 genome 22 rs780625319,rs878910304,rs539945336,rs361923
dbSNP Clinvar
20920813 582.61 A ACAG PASS 0/1 34 CODON_INSERTION MODERATE None 0.14460 None None None None None None MED15|0.346152585|24.41%

MN1

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 15ac02303_s1 genome 22 . 28194880 2308.96 C CACT PASS 0/1 72 CODON_INSERTION MODERATE None None None None None None None MN1|0.17954661|39.09%

MUC13

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 15ac02303_s1 genome 3 rs10630030,rs397759224
dbSNP Clinvar
124646705 1345.07 A AAAG PASS 1/1 24 CODON_INSERTION MODERATE None 0.98602 0.98600 0.01334 None None None None None None MUC13|0.000146036|99.87%

MUC3A

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 15ac02303_s1 genome 7 rs112753297,rs374444410
dbSNP Clinvar
100551637 6845.34 C CCAA PASS 0/1 415 CODON_INSERTION MODERATE None 0.39046 None None None None None None MUC3A|0.001683398|91.94%

NCOR2

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 15ac02303_s1 genome 12 rs879061669
dbSNP Clinvar
124887058 1102.91 G GGCT PASS 0/1 42 CODON_INSERTION MODERATE None 0.30651 0.30650 None None None None None None NCOR2|0.460506037|17.66%

OPRM1

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 15ac02303_s1 genome 6 rs576853670
dbSNP Clinvar
154360864 2603.47 C CCGG PASS 0/1 117 CODON_INSERTION MODERATE None 0.00260 0.00260 0.00423 None None None None None None OPRM1|0.901469633|3.41%

PDE11A

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 15ac02303_s1 genome 2 rs3830637,rs397723704
dbSNP Clinvar
178494173 7013.16 G GGGA PASS 1/1 143 CODON_INSERTION MODERATE None 0.58766 0.58770 0.40711 None None None None None None PDE11A|0.740114937|7.36%

RPL14

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 15ac02303_s1 genome 3 rs369485042,rs57354599
dbSNP Clinvar
40503520 1091.31 A AC... PASS 1/1 16 CODON_INSERTION MODERATE None 0.03415 0.07149 None None None None None None RPL14|0.064797243|58.69%

TICAM1

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 15ac02303_s1 genome 19 rs144100421,rs776163987,rs11466722
dbSNP Clinvar
4817288 1364.24 A AAGG PASS 0/1 108 CODON_INSERTION MODERATE None 0.15935 0.15930 None None None None None None TICAM1|0.001006178|95.39%

TSPYL1

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 15ac02303_s1 genome 6 rs78371471,rs397735194
dbSNP Clinvar
116600465 5304.26 T TCAC PASS 0/1 300 CODON_INSERTION MODERATE None 0.87220 0.87220 0.27113 None None None None None None DSE|0.823278071|5.23%,TSPYL1|0.00455159|86.36%

TTLL11

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 15ac02303_s1 genome 9 rs201653732,rs3833704
dbSNP Clinvar
124855330 2606.53 G GT... PASS 0/1 80 CODON_INSERTION MODERATE None 0.13538 0.13540 0.23053 None None None None None None TTLL11|0.118027056|47.74%
  • Page 1 of 1