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INDIVIDUALS:

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OMIM:
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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

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

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
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Genes at Omim

GGT1, KRT6C,
GGT1 ?Glutathioninuria, 231950 (3)
KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3)

Genes at Clinical Genomics Database

KRT6C,
KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse

Genes at HGMD

Summary

Number of Variants: 130
Number of Genes: 49

Export to: CSV

AC104057.1

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 el-exome_s1 7 rs12537706
dbSNP Clinvar
65112505 219.12 C T LowMQ 0/1 44 SYNONYMOUS_CODING LOW None 0.71166 0.71170 None None None None None None None

ACSM2A

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 el-exome_s1 16 rs9924150
dbSNP Clinvar
20492000 447.6 A G LowMQ 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.82628 0.82630 1.00 0.00 None None None None None None ACSM2A|0.005190474|85.6%

ACSM2B

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 el-exome_s1 16 rs8056693
dbSNP Clinvar
20570661 459.33 T C LowMQ 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.95347 0.95350 1.00 0.00 None None None None None None ACSM2B|0.005001118|85.81%

ADAM21

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 el-exome_s1 14 rs2022624
dbSNP Clinvar
70925818 447.03 T C LowMQ 1/1 46 SYNONYMOUS_CODING LOW None 0.74301 0.74300 None None None None None None ADAM21|0.009866102|80.97%

AKR1C1

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 el-exome_s1 10 rs1138600
dbSNP Clinvar
5010572 515.69 A G LowMQ 1/1 234 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99720 0.99720 None None None None None None AKR1C1|0.0017482|91.68%

ANAPC1

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 el-exome_s1 2 rs939797
dbSNP Clinvar
112536264 629.0 G T LowMQ 1/1 76 SYNONYMOUS_CODING LOW None 0.00278 None None None None None None ANAPC1|0.14646446|43.53%

ANKRD20A1

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 el-exome_s1 9 rs62542472
dbSNP Clinvar
67968476 1440.22 C T LowMQ 0/1 546 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.43 None None None None None None ANKRD20A1|0.001623081|92.24%

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 el-exome_s1 2 rs10211258
dbSNP Clinvar
96523096 1152.83 T C LowMQ 1/1 224 SYNONYMOUS_CODING LOW None 0.66274 0.66270 None None None None None None ANKRD36C|0.001406745|93.3%

CCDC74B

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 el-exome_s1 2 rs2292302
dbSNP Clinvar
130902194 502.47 C T LowMQ 1/1 83 SPLICE_SITE_REGION LOW None 0.44369 0.44370 0.16 0.93 None None None None None None CCDC74B|0.002020992|90.93%

CDRT1

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 el-exome_s1 17 rs151442
dbSNP Clinvar
15492409 771.45 T C LowMQ 1/1 142 SYNONYMOUS_CODING LOW None 0.99381 0.99380 None None None None None None CDRT1|0.012808391|78.64%

CEP170

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 el-exome_s1 1 rs140816120
dbSNP Clinvar
243332884 336.62 AAG A LowMQ 0/1 23 None None None 0.31829 0.31830 0.31063 None None None None None None CEP170|0.244807399|32.03%

CHRFAM7A

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 el-exome_s1 15 rs201490160
dbSNP Clinvar
30665280 2324.58 TCA T LowMQ 0/1 103 FRAME_SHIFT HIGH None 0.38698 0.38700 0.34599 None None None None None None CHRFAM7A|0.105656151|50.1%

DEFB106A

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 el-exome_s1 8 rs146195936
dbSNP Clinvar
7686397 907.37 T C LowMQ 0/1 402 SYNONYMOUS_CODING LOW None None None None None None None DEFB106A|0.002190707|90.45%

FAM115C

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 el-exome_s1 7 rs62486261
dbSNP Clinvar
143417083 1564.22 T C LowMQ 0/1 400 NON_SYNONYMOUS_CODING MODERATE None 0.35 0.10 None None None None None None TCAF2|0.0052901|85.43%

FAM86B2

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 el-exome_s1 8 rs2698898
dbSNP Clinvar
12285103 442.47 C T LowMQ 1/1 167 None None None 0.11 0.00 None None None None None None FAM86B2|0.001900627|91.24%
View el-exome_s1 8 rs2698897
dbSNP Clinvar
12285102 474.02 T C LowMQ 1/1 177 None None None 0.00 0.04 None None None None None None FAM86B2|0.001900627|91.24%

FCGBP

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 el-exome_s1 19 rs2569779
dbSNP Clinvar
40392359 995.43 T C LowMQ 1/1 175 SYNONYMOUS_CODING LOW None 0.99960 0.99960 None None None None None None FCGBP|0.004084506|86.87%

FOXD4L5

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 el-exome_s1 9 rs2921291
dbSNP Clinvar
70177822 638.97 T C LowMQ 1/1 74 SYNONYMOUS_CODING LOW None 0.82748 0.82750 None None None None None None FOXD4L5|0.001233365|94.27%

GGT1

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 el-exome_s1 22 rs4049829
dbSNP Clinvar
25019155 427.23 T C LowMQ 1/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.43 0.00 None None None None None None GGT1|0.044291903|64.4%

GOLGA8B

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 el-exome_s1 15 rs199645647
dbSNP Clinvar
34825132 813.6 C G LowMQ 1/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.17 0.00 None None None None None None GOLGA8A|0.001476109|92.88%,GOLGA8B|0.00187481|91.31%

GOLGA8I

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 el-exome_s1 15 rs4300622
dbSNP Clinvar
23259270 862.78 A G LowMQ 1/1 241 SYNONYMOUS_CODING LOW None 0.81250 0.81250 None None None None None None None

HRNR

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 el-exome_s1 1 rs76438416
dbSNP Clinvar
152189029 796.87 A G LowMQ 0/1 354 SYNONYMOUS_CODING LOW None None None None None None None HRNR|0.000187528|99.8%
View el-exome_s1 1 rs4845749
dbSNP Clinvar
152189055 1099.0 G C LowMQ 1/1 183 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None HRNR|0.000187528|99.8%
View el-exome_s1 1 rs74336774
dbSNP Clinvar
152187810 304.32 G A LowMQ 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.93 0.00 None None None None None None HRNR|0.000187528|99.8%
View el-exome_s1 1 rs76879172
dbSNP Clinvar
152188961 1667.42 C T LowMQ 0/1 716 NON_SYNONYMOUS_CODING MODERATE None 0.54 0.00 None None None None None None HRNR|0.000187528|99.8%

KRT6C

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 el-exome_s1 12 rs419374
dbSNP Clinvar
52867324 2171.71 G T LowMQ 1/1 530 SYNONYMOUS_CODING LOW None 0.25719 0.25720 None None None None None None KRT6C|0.012810876|78.64%
View el-exome_s1 12 rs425073
dbSNP Clinvar
52865918 749.71 G C LowMQ 1/1 151 SYNONYMOUS_CODING LOW None 0.07952 None None None None None None KRT6C|0.012810876|78.64%

KRTAP10-6

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 el-exome_s1 21 rs233309
dbSNP Clinvar
46012182 652.04 G A LowMQ 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.38558 0.38560 1.00 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-6|0.002193363|90.43%
View el-exome_s1 21 rs201732843
dbSNP Clinvar
46012181 619.13 C T LowMQ 0/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.38558 0.38560 0.00 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-6|0.002193363|90.43%
View el-exome_s1 21 rs13051603
dbSNP Clinvar
46011987 605.87 A G LowMQ 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.19569 0.19570 0.03811 1.00 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-6|0.002193363|90.43%

KRTAP9-7

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 el-exome_s1 17 rs4890107
dbSNP Clinvar
39432017 582.84 C T LowMQ 1/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.43990 0.43990 0.04 0.00 None None None None None None KRTAP9-7|0.002395161|89.91%

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 el-exome_s1 7 rs150131157
dbSNP Clinvar
100636584 431.93 T C LowMQ 1/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.40316 0.40320 1.00 0.00 None None None None None None MUC12|0.000890812|96.07%
View el-exome_s1 7 rs201496632
dbSNP Clinvar
100637465 2016.09 C T LowMQ 1/1 803 SYNONYMOUS_CODING LOW None 0.17272 0.17270 None None None None None None MUC12|0.000890812|96.07%
View el-exome_s1 7 rs28483629
dbSNP Clinvar
100639066 886.3 C T LowMQ 1/1 356 NON_SYNONYMOUS_CODING MODERATE None 0.68331 0.68330 0.04 0.51 None None None None None None MUC12|0.000890812|96.07%
View el-exome_s1 7 rs71557212
dbSNP Clinvar
100639095 615.72 A C LowMQ 1/1 268 NON_SYNONYMOUS_CODING MODERATE None 0.68610 0.68610 0.05 0.71 None None None None None None MUC12|0.000890812|96.07%
View el-exome_s1 7 rs28585369
dbSNP Clinvar
100639112 498.05 G C LowMQ 1/1 211 SYNONYMOUS_CODING LOW None 0.73682 0.73680 None None None None None None MUC12|0.000890812|96.07%
View el-exome_s1 7 rs79024276
dbSNP Clinvar
100646747 1019.81 A G LowMQ 1/1 139 SYNONYMOUS_CODING LOW None 0.76398 0.76400 None None None None None None MUC12|0.000890812|96.07%
View el-exome_s1 7 rs112404953
dbSNP Clinvar
100637887 789.0 A G LowMQ 1/1 201 NON_SYNONYMOUS_CODING MODERATE None 0.33986 0.33990 1.00 0.00 None None None None None None MUC12|0.000890812|96.07%
View el-exome_s1 7 rs28459498
dbSNP Clinvar
100639040 1441.65 C T LowMQ 1/1 430 SYNONYMOUS_CODING LOW None None None None None None None MUC12|0.000890812|96.07%
View el-exome_s1 7 rs56357244
dbSNP Clinvar
100639049 1148.52 G C LowMQ 1/1 397 NON_SYNONYMOUS_CODING MODERATE None 0.68251 0.68250 0.13 0.01 None None None None None None MUC12|0.000890812|96.07%

MUC4

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 el-exome_s1 3 rs1045994646,rs199833358
dbSNP Clinvar
195506267 101.06 C T LowMQ 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.00659 0.00659 0.21 0.03 None None None None None None MUC4|0.005441696|85.29%

NPIPB11

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 el-exome_s1 16 rs71387660
dbSNP Clinvar
29395453 979.25 A G LowMQ 1/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.77636 0.77640 1.00 0.00 None None None None None None NPIPB11|0.001308823|93.83%

NPIPB4

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 el-exome_s1 16 rs201682183
dbSNP Clinvar
21854719 1493.99 G C LowMQ 0/1 533 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.33 None None None None None None NPIPB4|0.001070277|95.07%

OR1D5

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 el-exome_s1 17 rs2676564
dbSNP Clinvar
2966032 471.1 C G LowMQ 1/1 124 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None OR1D5|0.013380094|78.27%

OR2T5

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 el-exome_s1 1 rs1770043
dbSNP Clinvar
248651927 607.47 A G LowMQ 1/1 229 NON_SYNONYMOUS_CODING MODERATE None 0.91653 0.91650 0.34 0.00 None None None None None None OR2T5|0.002593105|89.5%

OR51A2

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 el-exome_s1 11 rs55889636
dbSNP Clinvar
4976291 724.57 G A LowMQ 1/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.37500 0.37500 0.43093 0.01 1.00 None None None None None None MMP26|0.003581364|87.64%,OR51A2|0.001046421|95.19%

OR6B3

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 el-exome_s1 2 rs34599221
dbSNP Clinvar
240985099 337.35 G A LowMQ 1/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.65974 0.65970 0.05 0.01 None None None None None None OR6B3|0.006979691|83.5%

POTEE

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 el-exome_s1 2 rs62178369
dbSNP Clinvar
132021946 1591.79 G A LowMQ 0/1 659 NON_SYNONYMOUS_CODING MODERATE None 0.01 1.00 None None None None None None PLEKHB2|0.091599144|52.9%,POTEE|0.001287221|93.99%

POTEF

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 el-exome_s1 2 rs62165870
dbSNP Clinvar
130832185 1896.93 G A LowMQ 1/1 419 NON_SYNONYMOUS_CODING MODERATE None 0.58566 0.58570 0.00 0.00 None None None None None None POTEF|0.001294804|93.94%

POTEG

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 el-exome_s1 14 rs57000026
dbSNP Clinvar
19553642 2662.88 A G LowMQ 1/1 281 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None POTEG|0.000931015|95.9%

POTEI

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 el-exome_s1 2 rs4531942
dbSNP Clinvar
131221102 1144.38 T C LowMQ 1/1 176 NON_SYNONYMOUS_CODING MODERATE None 0.99101 0.99100 1.00 0.00 None None None None None None POTEI|0.001085573|94.99%

POTEM

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 el-exome_s1 14 rs28412642
dbSNP Clinvar
20020071 629.01 A G LowMQ 1/1 157 SYNONYMOUS_CODING LOW None 0.42272 0.42270 None None None None None None POTEM|0.001625013|92.23%

PRAMEF19

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 el-exome_s1 1 rs12131695
dbSNP Clinvar
13695787 1504.13 C G LowMQ 1/1 272 NON_SYNONYMOUS_CODING MODERATE None 0.99121 0.99120 0.62 0.00 None None None None None None PRAMEF19|0.00096752|95.67%

RAET1L

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 el-exome_s1 6 rs912565
dbSNP Clinvar
150343211 1663.48 A G LowMQ 1/1 232 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.00 None None None None None None RAET1L|0.000372148|99.13%

RGPD8

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 el-exome_s1 2 rs1061266
dbSNP Clinvar
113145814 2665.22 C T LowMQ 1/1 480 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None RGPD8|0.009279101|81.47%

RP11-830F9.6

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 el-exome_s1 16 rs12930980
dbSNP Clinvar
89016735 566.93 A T LowMQ 0/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.14117 0.14120 0.00 None None None None None None CBFA2T3|0.054882629|61.22%
View el-exome_s1 16 rs111763399
dbSNP Clinvar
89016732 432.96 G A LowMQ 0/1 156 NON_SYNONYMOUS_CODING MODERATE None 0.17113 0.17110 0.00 None None None None None None CBFA2T3|0.054882629|61.22%

RPSAP58

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 el-exome_s1 19 rs10460211
dbSNP Clinvar
24010719 792.09 A G LowMQ 1/1 173 SYNONYMOUS_CODING LOW None None None None None None None RPSAP58|0.018182576|75.18%
View el-exome_s1 19 rs10460212
dbSNP Clinvar
24010781 601.83 C T LowMQ 1/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.97684 0.97680 0.09 0.02 None None None None None None RPSAP58|0.018182576|75.18%

RSPH10B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View el-exome_s1 7 rs2711185
dbSNP Clinvar
5983553 920.02 A C LowMQ 1/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.91394 0.91390 1.00 0.00 None None None None None None RSPH10B|0.004285795|86.62%

SPATA31A2

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 el-exome_s1 9 rs782697833
dbSNP Clinvar
39890309 998.76 G A LowMQ 1/1 171 NON_SYNONYMOUS_CODING MODERATE None 0.24 0.16 None None None None None None None

TCP10

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 el-exome_s1 6 rs17855837
dbSNP Clinvar
167791530 302.32 G C LowMQ 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.58127 0.58130 1.00 0.00 None None None None None None TCP10|0.000628006|97.7%
View el-exome_s1 6 rs3010594
dbSNP Clinvar
167791549 523.72 T G LowMQ 1/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.30497 1.00 0.00 None None None None None None TCP10|0.000628006|97.7%
View el-exome_s1 6 rs17855200
dbSNP Clinvar
167791524 372.04 C T LowMQ 1/1 56 SYNONYMOUS_CODING LOW None None None None None None None TCP10|0.000628006|97.7%

TRIM49C

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 el-exome_s1 11 rs2850196
dbSNP Clinvar
89806419 993.04 T G LowMQ 1/1 143 None None None 1.00 0.00 None None None None None None TRIM49C|0.003183378|88.34%

USP17L10

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 el-exome_s1 4 rs370533531
dbSNP Clinvar
9212484 791.96 T G LowMQ 1/1 97 SYNONYMOUS_CODING LOW None 0.00879 0.00879 None None None None None None USP17L10|0.002887906|88.87%,USP17L13|0.001354839|93.57%

USP17L18

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 el-exome_s1 4 rs376110430
dbSNP Clinvar
9250422 17347.23 T C LowMQ 0/1 4453 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.44030 0.27 0.86 None None None None None None USP17L18|0.001853917|91.4%

ZNF658

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 el-exome_s1 9 rs200851508
dbSNP Clinvar
40768599 208.5 C G LowMQ 0/1 92 None None None 0.03 0.02 None None None None None None None
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 el-exome_s1 16 rs2549216
dbSNP Clinvar
74443733 652.42 T G LowMQ 1/1 106 None None None 0.73722 0.73720 None None None None None None CLEC18B|0.011397398|79.7%
View el-exome_s1 2 . 98128313 1844.43 G A LowMQ 0/1 854 None None None None None None None None None None
View el-exome_s1 2 rs75682686
dbSNP Clinvar
98128515 1379.25 C T LowMQ 0/1 611 None None None None None None None None None None
View el-exome_s1 2 rs79762068
dbSNP Clinvar
98128520 1394.26 G A LowMQ 0/1 593 None None None None None None None None None None
View el-exome_s1 2 rs76238768
dbSNP Clinvar
98128531 1331.64 C A LowMQ 0/1 500 None None None None None None None None None None
View el-exome_s1 1 rs2289361
dbSNP Clinvar
121115958 837.93 T C LowMQ 0/1 137 None None None 0.01398 0.01398 None None None None None None None
View el-exome_s1 1 rs587615174
dbSNP Clinvar
148756384 305.03 G A LowMQ 0/1 76 None None None 0.55072 0.55070 None None None None None None None
View el-exome_s1 1 rs201181455
dbSNP Clinvar
148756397 373.39 C T LowMQ 0/1 120 None None None 0.51398 0.51400 None None None None None None None
View el-exome_s1 1 rs75058536
dbSNP Clinvar
148756432 453.03 C A LowMQ 0/1 128 None None None None None None None None None None
View el-exome_s1 5 rs62371794
dbSNP Clinvar
69515863 2549.01 G A LowMQ 0/1 766 None None None None None None None None None None
View el-exome_s1 1 rs430178
dbSNP Clinvar
161569419 1261.04 C G LowMQ 1/1 242 None None None 0.74141 0.74140 None None None None None None FCGR3A|0.001574377|92.43%,FCGR2B|0.005666385|85.02%,FCGR2C|0.001262673|94.08%
View el-exome_s1 1 rs3754052
dbSNP Clinvar
161576227 1301.71 C G LowMQ 1/1 333 None None None 0.66194 0.66190 None None None None None None FCGR3A|0.001574377|92.43%,FCGR2B|0.005666385|85.02%
View el-exome_s1 5 rs200807153
dbSNP Clinvar
69515870 1905.4 C T LowMQ 0/1 736 None None None None None None None None None None
View el-exome_s1 2 rs6711032
dbSNP Clinvar
905844 528.84 A C LowMQ 0/1 150 None None None 0.00040 0.00040 None None None None None None None
View el-exome_s1 2 rs832347
dbSNP Clinvar
108499667 439.58 C T LowMQ 0/1 122 None None None None None None None None None RGPD4|0.009702593|81.07%
View el-exome_s1 4 rs782306647
dbSNP Clinvar
190989621 556.52 G A LowMQ 0/1 236 None None None None None None None None None None
View el-exome_s1 4 rs782036037
dbSNP Clinvar
190989624 587.38 G A LowMQ 0/1 211 None None None None None None None None None None
View el-exome_s1 7 rs2191987
dbSNP Clinvar
62753079 857.82 A G LowMQ 1/1 211 None None None 0.44728 0.44730 None None None None None None None
View el-exome_s1 7 rs781928583
dbSNP Clinvar
74536839 344.3 ATTT A LowMQ 0/1 43 None None None None None None None None None GTF2IRD2B|0.005780461|84.85%
View el-exome_s1 7 rs3812409
dbSNP Clinvar
143510176 906.27 C T LowMQ 0/1 397 None None None None None None None None None None
View el-exome_s1 9 rs62565520
dbSNP Clinvar
40702443 180.3 G A LowMQ 0/1 58 None None None 0.47085 0.47080 None None None None None None SPATA31A3|0.000379004|99.1%
View el-exome_s1 9 rs512327
dbSNP Clinvar
90537892 744.02 G C LowMQ 1/1 83 None None None 0.53754 0.53750 None None None None None None None
View el-exome_s1 10 rs61858522
dbSNP Clinvar
89125891 713.32 C T LowMQ 0/1 285 None None None None None None None None None NUTM2D|0.001478107|92.87%
View el-exome_s1 11 rs3017548
dbSNP Clinvar
89819438 688.62 C T LowMQ 1/1 104 None None None None None None None None None None
View el-exome_s1 11 . 89819840 157.43 G A LowMQ 0/1 45 None None None None None None None None None None
View el-exome_s1 15 rs63749246
dbSNP Clinvar
28596057 925.21 C T LowMQ 1/1 266 None None None 0.39597 0.39600 None None None None None None None
View el-exome_s1 22 rs28693807
dbSNP Clinvar
21637980 1745.77 G A LowMQ 0/1 480 None None None None None None None None None None
View el-exome_s1 14 rs61979610
dbSNP Clinvar
20181930 564.74 A G LowMQ 1/1 113 None None None None None None None None None None
View el-exome_s1 22 rs28510405
dbSNP Clinvar
21637998 1168.35 G A LowMQ 0/1 430 None None None None None None None None None None
View el-exome_s1 1 rs77832891
dbSNP Clinvar
664834 373.93 T G LowMQ 1/1 47 None None None None None None None None None None
View el-exome_s1 19 rs1610556
dbSNP Clinvar
7051768 668.28 T G LowMQ 0/1 322 None None None None None None None None None None
View el-exome_s1 16 rs200797722
dbSNP Clinvar
29458095 1147.73 T C LowMQ 1/1 254 None None None None None None None None None None