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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

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MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

CASP12, FCGR2A, FUT2, KMT2C, NDUFB9, RAB23, TRPM1,
CASP12 {Sepsis, susceptibility to} (3)
FCGR2A {Lupus nephritis, susceptibility to}, 152700 (3)
{Malaria, severe, susceptibility to}, 611162 (3)
{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
NDUFB9 ?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)
RAB23 Carpenter syndrome, 201000 (3)
TRPM1 Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)

Genes at Clinical Genomics Database

RAB23, TRPM1,
RAB23 Carpenter syndrome 1
TRPM1 Night blindness, congenital stationary, type 1C

Genes at HGMD

Summary

Number of Variants: 92
Number of Genes: 82

Export to: CSV
  • Page 1 of 1

AC018755.1

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 myexome-1 annotated mendelmd 19 rs3794983
dbSNP Clinvar
52096053 483.77 T A PASS 0/1 32 STOP_GAINED HIGH None 0.20727 0.20730 None None None None None None None

AC074389.6

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 myexome-1 annotated mendelmd 7 rs117250982
dbSNP Clinvar
1733474 651.77 G A PASS 0/1 46 STOP_GAINED HIGH None 0.00859 0.00859 None None None None None None ELFN1|0.050148349|62.62%

ANKRD36C

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 myexome-1 annotated mendelmd 2 rs76474100
dbSNP Clinvar
96617111 1638.77 G A PASS 0/1 129 STOP_GAINED HIGH None 0.00040 0.00040 None None None None None None ANKRD36C|0.001406745|93.3%

C17orf107

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 myexome-1 annotated mendelmd 17 rs35400274
dbSNP Clinvar
4803711 1214.77 G A PASS 0/1 93 STOP_GAINED HIGH None 0.22165 0.22160 0.20543 None None None None None None CHRNE|0.06756335|57.98%,C17orf107|0.01484237|77.26%

C2orf83

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 myexome-1 annotated mendelmd 2 rs2176186
dbSNP Clinvar
228476140 841.77 C T PASS 0/1 72 STOP_GAINED HIGH None 0.31390 0.31390 0.28079 None None None None None None C2orf83|0.001157033|94.67%

C5orf20

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 myexome-1 annotated mendelmd 5 rs12520799
dbSNP Clinvar
134782450 3220.76 T A PASS 1/1 93 STOP_GAINED HIGH None 0.64517 0.64520 0.40151 None None None None None None DCANP1|0.000625841|97.73%,TIFAB|0.012847206|78.59%

C5orf38

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 myexome-1 annotated mendelmd 5 rs62333235
dbSNP Clinvar
2755485 1863.77 C T PASS 1/1 59 STOP_GAINED HIGH None 0.29673 0.29670 None None None None None None C5orf38|0.009040618|81.62%

C8orf49

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 myexome-1 annotated mendelmd 8 rs809203
dbSNP Clinvar
11619504 1136.77 T A PASS 0/1 99 STOP_GAINED HIGH None 0.25140 0.25140 None None None None None None C8orf49|0.001687308|91.93%

CASP12

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 myexome-1 annotated mendelmd 11 rs497116
dbSNP Clinvar
104763117 4661.77 G A PASS 1/1 144 STOP_GAINED HIGH None 0.94848 0.94850 None None None None None None CASP12|0.001761043|91.65%

CLDN5

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 myexome-1 annotated mendelmd 22 rs885985
dbSNP Clinvar
19511925 436.77 G A PASS 0/1 30 STOP_GAINED HIGH None 0.49681 0.49680 None None None None None None CLDN5|0.101200006|50.93%

CLYBL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 13 rs41281112
dbSNP Clinvar
100518634 361.77 C T PASS 0/1 28 STOP_GAINED HIGH None 0.02196 0.02196 0.02053 None None None None None None CLYBL|0.43420364|18.99%

CPN2

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 myexome-1 annotated mendelmd 3 rs4974539
dbSNP Clinvar
194061907 702.77 G A PASS 0/1 49 STOP_GAINED HIGH None 0.28015 0.28020 0.34453 None None None None None None CPN2|0.013888065|77.95%

CSAG1

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 myexome-1 annotated mendelmd X rs1894360,rs796367357
dbSNP Clinvar
151908845 753.77 C G PASS 0/1 38 STOP_GAINED HIGH None 0.09987 0.09987 0.13065 None None None None None None CSAG1|0.000765743|96.9%

CTD-2368P22.1

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 myexome-1 annotated mendelmd 19 rs200217315
dbSNP Clinvar
58514136 428.77 C T PASS 0/1 44 STOP_GAINED HIGH None 0.00699 0.00699 7.60 0.28 0.9016 D None None None None ZNF606|0.007782601|82.77%

CYP2D7P

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 myexome-1 annotated mendelmd 22 rs2743457
dbSNP Clinvar
42537252 104.77 G A MG_SNP_Filter 0/1 75 STOP_GAINED HIGH None 0.28674 0.28670 None None None None None None None
View myexome-1 annotated mendelmd 22 rs2743456
dbSNP Clinvar
42536313 188.77 G A PASS 0/1 16 STOP_GAINED HIGH None 0.22983 0.22980 None None None None None None None

DBI

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 myexome-1 annotated mendelmd 2 rs3731608
dbSNP Clinvar
120125053 926.77 C G PASS 0/1 35 STOP_GAINED HIGH None 0.16034 0.16030 None None None None None None DBI|0.035649756|67.26%

DDC8

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 myexome-1 annotated mendelmd 17 rs117232607
dbSNP Clinvar
76887658 1948.77 G A PASS 0/1 112 STOP_GAINED HIGH None 0.01058 0.01058 None None None None None None TIMP2|0.721313704|7.95%

DNAH7

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 myexome-1 annotated mendelmd 2 rs80112322
dbSNP Clinvar
196602786 2029.77 A T PASS 0/1 127 STOP_GAINED HIGH None 0.00160 0.00160 0.00191 None None None None None None DNAH7|0.112187885|48.83%

EBLN2

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 myexome-1 annotated mendelmd 3 rs2231925
dbSNP Clinvar
73111724 2366.77 T G PASS 0/1 185 STOP_GAINED HIGH None 0.00339 0.00340 0.00898 None None None None None None PPP4R2|0.153015597|42.53%,EBLN2|0.001877754|91.3%

EML3

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 myexome-1 annotated mendelmd 11 rs35156678
dbSNP Clinvar
62369881 1299.77 G A PASS 0/1 74 STOP_GAINED HIGH None 0.16554 0.16550 0.00153 None None None None None None EML3|0.147500051|43.38%

FCGR2A

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 myexome-1 annotated mendelmd 1 rs9427397
dbSNP Clinvar
161476204 916.77 C T PASS 0/1 65 STOP_GAINED HIGH None 0.05611 0.05611 0.09680 None None None None None None FCGR2A|0.010324745|80.62%

FRG1B

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 myexome-1 annotated mendelmd 20 rs79873624
dbSNP Clinvar
29625965 438.77 G A PASS 0/1 51 STOP_GAINED HIGH None None None None None None None FRG1B|0.009509512|81.26%

FUT2

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 myexome-1 annotated mendelmd 19 rs601338
dbSNP Clinvar
49206674 1093.77 G A PASS 0/1 73 STOP_GAINED HIGH None 0.32169 0.32170 0.49346 None None None None None None FUT2|0.006958625|83.54%

GAB4

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 myexome-1 annotated mendelmd 22 rs28502153
dbSNP Clinvar
17469049 278.77 C A PASS 0/1 20 STOP_GAINED HIGH None 0.35363 0.35360 0.33850 None None None None None None GAB4|0.003932508|87.14%

GXYLT1

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 myexome-1 annotated mendelmd 12 rs77044712
dbSNP Clinvar
42499692 730.77 A T PASS 0/1 314 STOP_GAINED HIGH None None None None None None None GXYLT1|0.137586291|44.77%

H2BFM

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 myexome-1 annotated mendelmd X rs2301384
dbSNP Clinvar
103294760 737.77 C T PASS 0/1 48 STOP_GAINED HIGH None 0.30649 0.30650 0.31444 None None None None None None H2BFM|0.000467272|98.6%

HAPLN3

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 myexome-1 annotated mendelmd 15 rs8039131
dbSNP Clinvar
89436295 888.77 G A PASS 0/1 74 STOP_GAINED HIGH None 0.39756 0.39760 None None None None None None HAPLN3|0.017075208|75.79%

IFLTD1

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 myexome-1 annotated mendelmd 12 . 25671752 701.77 G C PASS 0/1 53 STOP_GAINED HIGH None None None None None None None LMNTD1|0.002956295|88.71%

IGHV3OR16-13

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 myexome-1 annotated mendelmd 16 rs2019670
dbSNP Clinvar
33629700 411.77 G A PASS 0/1 113 STOP_GAINED HIGH None None None None None None None None
View myexome-1 annotated mendelmd 16 rs2002923
dbSNP Clinvar
33629973 1335.77 G A PASS 0/1 123 STOP_GAINED HIGH None None None None None None None None

KMT2C

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 myexome-1 annotated mendelmd 7 rs201234598
dbSNP Clinvar
151945256 47.77 G A MG_SNP_Filter 0/1 193 STOP_GAINED HIGH None None None None None None None KMT2C|0.088346598|53.58%

KRTAP13-2

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 myexome-1 annotated mendelmd 21 rs877346
dbSNP Clinvar
31744127 826.77 A T PASS 0/1 61 STOP_GAINED HIGH None 0.31809 0.31810 0.39397 None None None None None None KRTAP13-2|0.007131387|83.36%

LAIR2

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 myexome-1 annotated mendelmd 19 rs61737751
dbSNP Clinvar
55019261 525.77 C T PASS 0/1 38 STOP_GAINED HIGH None 0.03015 0.03015 0.03322 None None None None None None LAIR2|0.000188307|99.79%

LINC00955

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 myexome-1 annotated mendelmd 4 rs62272968
dbSNP Clinvar
3590730 3026.77 G A PASS 0/1 204 STOP_GAINED HIGH None None None None None None None LINC00955|0.001348255|93.6%

MAGEB16

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 myexome-1 annotated mendelmd X rs4829392
dbSNP Clinvar
35821127 734.77 C T PASS 0/1 53 STOP_GAINED HIGH None 0.62040 0.62040 0.45504 None None None None None None MAGEB16|0.000965806|95.69%

MAP2K3

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 myexome-1 annotated mendelmd 17 rs55796947
dbSNP Clinvar
21204210 1621.77 C T PASS 0/1 126 STOP_GAINED HIGH None None None None None None None MAP2K3|0.4379498|18.79%

MOB3C

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 myexome-1 annotated mendelmd 1 rs6671527
dbSNP Clinvar
47080679 700.77 G A PASS 0/1 78 STOP_GAINED HIGH None 0.64217 0.64220 0.49877 None None None None None None MKNK1|0.390435521|21.38%,MOB3C|0.199575043|36.77%

MROH2B

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 myexome-1 annotated mendelmd 5 rs1023840
dbSNP Clinvar
41061715 4079.77 C T PASS 1/1 91 STOP_GAINED HIGH None 0.20827 0.20830 0.15299 None None None None None None MROH2B|0.069922794|57.5%

MS4A12

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 myexome-1 annotated mendelmd 11 rs2298553
dbSNP Clinvar
60265002 1958.77 C T PASS 1/1 69 STOP_GAINED HIGH None 0.47824 0.47820 0.45241 None None None None None None MS4A12|0.000555931|98.15%

MUC12

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 myexome-1 annotated mendelmd 7 rs79851456
dbSNP Clinvar
100616185 40.77 C T MG_SNP_Filter 0/1 28 STOP_GAINED HIGH None None None None None None None MUC12|0.000890812|96.07%

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 myexome-1 annotated mendelmd 7 rs79874934
dbSNP Clinvar
100552738 7343.77 C T PASS 0/1 571 STOP_GAINED HIGH None None None None None None None MUC3A|0.001683398|91.94%

NDUFB9

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 myexome-1 annotated mendelmd 8 rs6470252
dbSNP Clinvar
125579990 1552.77 C T PASS 0/1 95 STOP_GAINED HIGH None 0.62460 0.62460 None None None None None None NDUFB9|0.09890784|51.37%,MTSS1|0.361449802|23.34%

NPDC1

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 myexome-1 annotated mendelmd 9 rs10781536
dbSNP Clinvar
139937799 2608.77 G A PASS 1/1 60 STOP_GAINED HIGH None 0.99701 0.99700 None None None None None None NPDC1|0.003521242|87.74%

OR10D3

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 myexome-1 annotated mendelmd 11 rs2512227
dbSNP Clinvar
124056732 2916.77 T G PASS 1/1 81 STOP_GAINED HIGH None 0.49141 0.49140 None None None None None None OR10D3|0.003266874|88.16%

OR1B1

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 myexome-1 annotated mendelmd 9 rs1476860
dbSNP Clinvar
125391241 761.77 G A PASS 0/1 41 STOP_GAINED HIGH None 0.33926 0.33930 0.22697 None None None None None None OR1B1|0.014476392|77.51%

OR4C16

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 myexome-1 annotated mendelmd 11 rs1459101
dbSNP Clinvar
55339652 1970.77 C T PASS 0/1 177 STOP_GAINED HIGH None 0.25260 0.25260 0.21941 None None None None None None OR4C16|0.00479956|86.1%

OR4C3

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 myexome-1 annotated mendelmd 11 rs72473368
dbSNP Clinvar
48347014 3986.77 G A PASS 0/1 239 STOP_GAINED HIGH None None None None None None None OR4C3|0.012915684|78.55%

OR4C5

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 myexome-1 annotated mendelmd 11 rs73460781
dbSNP Clinvar
48387850 2521.77 G T PASS 0/1 261 STOP_GAINED HIGH None None None None None None None OR4C5|0.011466291|79.62%
View myexome-1 annotated mendelmd 11 rs78160589
dbSNP Clinvar
48387978 886.77 T A PASS 0/1 106 STOP_GAINED HIGH None None None None None None None OR4C5|0.011466291|79.62%
View myexome-1 annotated mendelmd 11 rs74338058
dbSNP Clinvar
48387900 2354.77 G A PASS 0/1 231 STOP_GAINED HIGH None None None None None None None OR4C5|0.011466291|79.62%
View myexome-1 annotated mendelmd 11 rs77053100
dbSNP Clinvar
48387201 1620.77 G A PASS 0/1 151 STOP_GAINED HIGH None None None None None None None OR4C5|0.011466291|79.62%

OR4X1

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 myexome-1 annotated mendelmd 11 rs10838851
dbSNP Clinvar
48286231 4395.77 T A PASS 1/1 116 STOP_GAINED HIGH None 0.60423 0.60420 0.30936 None None None None None None OR4X1|0.01331956|78.29%

OR51Q1

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 myexome-1 annotated mendelmd 11 rs2647574
dbSNP Clinvar
5444136 1976.77 C T PASS 0/1 136 STOP_GAINED HIGH None 0.45387 0.45390 0.36196 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51Q1|0.017477394|75.61%

OR52N4

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 myexome-1 annotated mendelmd 11 rs4910844
dbSNP Clinvar
5776484 2344.77 A T PASS 0/1 119 STOP_GAINED HIGH None 0.21446 0.21450 0.20916 None None None None None None TRIM5|0.00243037|89.82%,OR52N4|0.035426134|67.34%

OR5AR1

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 myexome-1 annotated mendelmd 11 rs11228710
dbSNP Clinvar
56431216 3582.77 C T PASS 1/1 102 STOP_GAINED HIGH None 0.62300 0.62300 0.42966 None None None None None None OR5AR1|0.094213809|52.31%

OR5K2

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 myexome-1 annotated mendelmd 3 rs55639376
dbSNP Clinvar
98217178 589.77 T A PASS 0/1 47 STOP_GAINED HIGH None 0.12380 0.12380 0.16741 None None None None None None OR5K2|0.005632487|85.07%,CLDND1|0.216463054|34.82%

PABPC3

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 myexome-1 annotated mendelmd 13 rs80062522
dbSNP Clinvar
25671210 594.77 C T PASS 0/1 212 STOP_GAINED HIGH None None None None None None None PABPC3|0.002678651|89.3%
View myexome-1 annotated mendelmd 13 rs76804900
dbSNP Clinvar
25671369 415.77 G T PASS 0/1 148 STOP_GAINED HIGH None None None None None None None PABPC3|0.002678651|89.3%

PCDH1

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 myexome-1 annotated mendelmd 5 . 141257794 52.77 C A PASS 0/1 3 STOP_GAINED HIGH None None None None None None None PCDH1|0.2590564|30.82%

PCMTD1

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 myexome-1 annotated mendelmd 8 rs75748152
dbSNP Clinvar
52733231 61.77 G A PASS 0/1 13 STOP_GAINED HIGH None None None None None None None PCMTD1|0.383110671|21.84%

PDE4DIP

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 myexome-1 annotated mendelmd 1 rs1778111
dbSNP Clinvar
144915561 1021.77 G A PASS 0/1 80 STOP_GAINED HIGH None None None None None None None PDE4DIP|0.07469644|56.36%
View myexome-1 annotated mendelmd 1 rs2762779
dbSNP Clinvar
145075683 558.77 C T PASS 0/1 60 STOP_GAINED HIGH None None None None None None None PDE4DIP|0.07469644|56.36%

PKD1L2

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 myexome-1 annotated mendelmd 16 rs12925771
dbSNP Clinvar
81199544 565.77 G A PASS 0/1 26 STOP_GAINED HIGH None 0.38718 0.38720 0.22989 None None None None None None PKD1L2|0.005531409|85.17%
View myexome-1 annotated mendelmd 16 rs7499011
dbSNP Clinvar
81242198 724.77 G A PASS 0/1 49 STOP_GAINED HIGH None 0.16174 0.16170 0.29020 None None None None None None PKD1L2|0.005531409|85.17%

PLET1

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 myexome-1 annotated mendelmd 11 . 112119626 212.77 T A PASS 0/1 35 STOP_GAINED HIGH None None None None None None None PTS|0.41186285|20.05%,PLET1|0.000152446|99.85%

POU2F2

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 myexome-1 annotated mendelmd 19 rs142827647
dbSNP Clinvar
42595991 1480.77 G T PASS 0/1 109 STOP_GAINED HIGH None 0.00140 0.00140 None None None None None None POU2F2|0.278609479|29.23%

PRB4

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 myexome-1 annotated mendelmd 12 rs12829245
dbSNP Clinvar
11461802 1233.77 G A PASS 0/1 59 STOP_GAINED HIGH None 0.07528 0.07528 0.13531 None None None None None None PRB4|0.000561665|98.11%

PRIM2

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 myexome-1 annotated mendelmd 6 rs71214816
dbSNP Clinvar
57398207 3642.77 G T PASS 0/1 351 STOP_GAINED HIGH None None None None None None None PRIM2|0.188824743|37.96%
View myexome-1 annotated mendelmd 6 rs62398999
dbSNP Clinvar
57398270 1523.77 C T PASS 0/1 239 STOP_GAINED HIGH None None None None None None None PRIM2|0.188824743|37.96%

RAB23

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 myexome-1 annotated mendelmd 6 rs121908171
dbSNP Clinvar
57059615 314.77 A T PASS 0/1 40 STOP_GAINED HIGH None 0.00040 0.00040 0.00031 None None None None None None RAB23|0.433616583|19.01%

RBM48

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 myexome-1 annotated mendelmd 7 rs67142609
dbSNP Clinvar
92164318 450.77 C T PASS 0/1 51 STOP_GAINED HIGH None 0.00040 0.00040 0.02930 None None None None None None RBM48|0.024641584|71.96%

RP11-362K2.2

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 myexome-1 annotated mendelmd 12 rs17121498
dbSNP Clinvar
59206383 700.77 C T PASS 0/1 57 STOP_GAINED HIGH None 0.04513 0.04513 None None None None None None None

RTP3

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 myexome-1 annotated mendelmd 3 . 46542051 1246.77 C T PASS 0/1 83 STOP_GAINED HIGH None None None None None None None RTP3|0.001295571|93.93%

SIGLEC12

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 myexome-1 annotated mendelmd 19 rs16982743
dbSNP Clinvar
52004903 2125.77 G A PASS 0/1 194 STOP_GAINED HIGH None 0.18590 0.18590 0.23335 None None None None None None SIGLEC12|0.000634247|97.66%

SLC13A1

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 myexome-1 annotated mendelmd 7 rs138275989
dbSNP Clinvar
122821111 1374.77 C T PASS 0/1 114 STOP_GAINED HIGH None 0.00020 0.00020 0.00138 None None None None None None SLC13A1|0.17059663|40.24%

TAS2R31

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 myexome-1 annotated mendelmd 12 rs78820764
dbSNP Clinvar
11183035 846.77 C T PASS 0/1 272 STOP_GAINED HIGH None None None None None None None PRR4|0.000493683|98.46%,TAS2R14|0.00022192|99.72%,TAS2R31|0.000433793|98.76%

TCP11L1

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 myexome-1 annotated mendelmd 11 rs3758741
dbSNP Clinvar
33106616 3194.83 C T PASS 1/1 101 STOP_GAINED HIGH None 0.22903 0.22900 0.31231 None None None None None None TCP11L1|0.066682855|58.23%,CSTF3|0.816291076|5.41%

TRBV10-1

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 myexome-1 annotated mendelmd 7 rs17249
dbSNP Clinvar
142231625 1300.77 C A PASS 0/1 75 STOP_GAINED HIGH None 0.24860 0.24860 0.38197 None None None None None None None
View myexome-1 annotated mendelmd 7 . 142231780 588.77 C T PASS 0/1 92 STOP_GAINED HIGH None None None None None None None None

TRBV3-1

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 myexome-1 annotated mendelmd 7 rs370721246
dbSNP Clinvar
142008653 499.77 T A PASS 0/1 114 STOP_GAINED HIGH None 1.22 0.01 0.20073 T None None None None None

TRBV5-4

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 myexome-1 annotated mendelmd 7 rs749897758
dbSNP Clinvar
142168524 984.77 G A PASS 0/1 94 STOP_GAINED HIGH None None None None None None None None

TRBV5-5

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 myexome-1 annotated mendelmd 7 rs747286228
dbSNP Clinvar
142148969 72.77 A T MG_SNP_Filter 0/1 129 STOP_GAINED HIGH None None None None None None None None

TRPM1

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 myexome-1 annotated mendelmd 15 rs3784589
dbSNP Clinvar
31294714 2166.77 C A PASS 0/1 153 STOP_GAINED HIGH None 0.06829 0.06829 0.06359 None None None None None None TRPM1|0.068591647|57.82%

TTC4

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 myexome-1 annotated mendelmd 1 rs1147990
dbSNP Clinvar
55182300 552.77 T A PASS 0/1 42 STOP_GAINED HIGH None 0.66833 0.66830 0.47509 0.27 0.00 None None None None None None TTC4|0.085109121|54.15%

UBE2NL

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 myexome-1 annotated mendelmd X rs237520
dbSNP Clinvar
142967468 2644.77 T G PASS 1/1 78 STOP_GAINED HIGH None 0.61748 0.61750 0.33314 None None None None None None UBE2NL|0.004200754|86.73%

USP29

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 myexome-1 annotated mendelmd 19 rs9973206
dbSNP Clinvar
57642782 661.77 C A PASS 1/1 18 STOP_GAINED HIGH None 0.95208 0.95210 0.11704 None None None None None None USP29|0.000863165|96.27%

ZIM3

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 myexome-1 annotated mendelmd 19 rs111350153
dbSNP Clinvar
57646393 1092.77 T A PASS 0/1 82 STOP_GAINED HIGH None 0.00699 0.00699 0.01561 None None None None None None ZIM3|0.001313694|93.8%

ZNF117

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 myexome-1 annotated mendelmd 7 rs1404453
dbSNP Clinvar
64438667 1292.77 G A PASS 1/1 38 STOP_GAINED HIGH None 0.88179 0.88180 0.10150 None None None None None None ZNF117|0.000669116|97.44%

ZNF544

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 myexome-1 annotated mendelmd 19 rs79258645
dbSNP Clinvar
58773815 738.77 C T PASS 0/1 44 STOP_GAINED HIGH None 0.00899 0.00899 0.00800 None None None None None None ZNF544|0.001055336|95.13%

ZNF563

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 myexome-1 annotated mendelmd 19 rs112896133
dbSNP Clinvar
12429782 1170.77 G A PASS 0/1 94 STOP_GAINED HIGH None 0.00240 0.00240 0.00877 None None None None None None ZNF563|0.001255239|94.13%

ZNF80

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 myexome-1 annotated mendelmd 3 rs3732781
dbSNP Clinvar
113955187 1540.77 A C PASS 0/1 99 STOP_GAINED HIGH None 0.18550 0.18550 0.20637 None None None None None None ZNF80|0.001570762|92.46%
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