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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
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CADD

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Genes at Omim

CCT5,
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)

Genes at Clinical Genomics Database

CCT5,
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia

Genes at HGMD

Summary

Number of Variants: 341
Number of Genes: 7

Export to: CSV

AADACL3

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 rs3000859
dbSNP Clinvar
12776344 2148.77 A T PASS 1/1 67 START_GAINED LOW None 0.65655 0.65650 0.27373 1.00 0.00 None None None None None None AADACL3|0.001467435|92.94%

ADAM32

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 rs59118660
dbSNP Clinvar
38965271 896.77 C T PASS 0/1 50 START_GAINED LOW None 0.43790 0.43790 0.33230 None None None None None None ADAM32|0.008880265|81.76%
View myexome-1 annotated mendelmd 8 rs59118660
dbSNP Clinvar
38965271 896.77 C T PASS 0/1 50 START_GAINED LOW None 0.43790 0.43790 0.33230 None None None None None None ADAM32|0.008880265|81.76%

AIDA

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 rs3811465
dbSNP Clinvar
222886119 4561.77 A G PASS 1/1 134 START_GAINED LOW None 0.75719 0.75720 0.06 0.00 None None None None None None AIDA|0.542532951|14.12%,BROX|0.22306489|34.05%

ARMCX4

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 rs963618
dbSNP Clinvar
100743037 2099.77 C T PASS 1/1 58 START_GAINED LOW None 0.65987 0.65990 None None None None None None ARMCX4|0.006015436|84.57%
View myexome-1 annotated mendelmd X rs963618
dbSNP Clinvar
100743037 2099.77 C T PASS 1/1 58 START_GAINED LOW None 0.65987 0.65990 None None None None None None ARMCX4|0.006015436|84.57%

C12orf43

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 rs2258227
dbSNP Clinvar
121454257 6025.77 T A PASS 1/1 187 START_GAINED LOW None 0.78474 0.78470 0.25142 None None None None None None C12orf43|0.005778578|84.86%
View myexome-1 annotated mendelmd 12 rs2258227
dbSNP Clinvar
121454257 6025.77 T A PASS 1/1 187 START_GAINED LOW None 0.78474 0.78470 0.25142 None None None None None None C12orf43|0.005778578|84.86%

CCT5

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 rs2578618
dbSNP Clinvar
10250443 2490.77 T C PASS 1/1 76 START_GAINED LOW None 0.68530 0.68530 0.28195 0.00 None None None None None None CCT5|0.365250197|23.05%

VWA9

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 rs4366668
dbSNP Clinvar
65903398 1790.77 G A PASS 0/1 187 START_GAINED LOW None 0.66134 0.66130 None None None None None None VWA9|0.263262365|30.45%
View myexome-1 annotated mendelmd 15 rs4366668
dbSNP Clinvar
65903398 1790.77 G A PASS 0/1 187 START_GAINED LOW None 0.66134 0.66130 None None None None None None VWA9|0.263262365|30.45%
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 rs376053846
dbSNP Clinvar
142008403 160.77 C G PASS 0/1 25 START_GAINED LOW None None None None None None None None
View myexome-1 annotated mendelmd 8 rs4950
dbSNP Clinvar
42552633 4736.77 G A PASS 1/1 147 START_GAINED LOW None 0.59645 0.59640 0.37319 None None None None None None CHRNB3|0.206277486|35.99%
View myexome-1 annotated mendelmd 9 rs2273784
dbSNP Clinvar
5339799 436.77 G A PASS 0/1 23 START_GAINED LOW None 0.09465 0.09465 None None None None None None RLN1|0.000291515|99.45%
View myexome-1 annotated mendelmd 9 rs11553814
dbSNP Clinvar
6328440 122.77 C T PASS 0/1 7 START_GAINED LOW None 0.12879 0.12880 None None None None None None TPD52L3|0.005696163|84.99%
View myexome-1 annotated mendelmd 9 rs10757661
dbSNP Clinvar
27455585 160.77 G A PASS 0/1 12 START_GAINED LOW None 0.62560 0.62560 0.41373 None None None None None None MOB3B|0.452968189|18.04%
View myexome-1 annotated mendelmd 9 rs2490582
dbSNP Clinvar
79009106 1368.77 A C PASS 1/1 46 START_GAINED LOW None 0.99940 0.99940 0.00094 None None None None None None RFK|0.049264247|62.87%
View myexome-1 annotated mendelmd 1 rs649639
dbSNP Clinvar
10490285 126.77 T C PASS 0/1 7 START_GAINED LOW None 0.59405 0.59400 None None None None None None APITD1|0.027342014|70.72%,APITD1-CORT|0.083002199|54.58%
View myexome-1 annotated mendelmd 1 rs10917413
dbSNP Clinvar
24018277 1893.77 C G PASS 1/1 56 START_GAINED LOW None 0.97684 0.97680 0.01615 None None None None None None RPL11|0.770814273|6.52%
View myexome-1 annotated mendelmd 1 rs2232648
dbSNP Clinvar
26496455 225.77 C T PASS 0/1 18 START_GAINED LOW None 0.18251 0.18250 0.18404 None None None None None None ZNF593|0.143613377|43.93%
View myexome-1 annotated mendelmd 1 rs2500341
dbSNP Clinvar
55464790 1435.77 C G PASS 1/1 39 START_GAINED LOW None 0.59505 0.59500 None None None None None None BSND|0.012671316|78.77%
View myexome-1 annotated mendelmd 1 rs2307130
dbSNP Clinvar
100316589 299.77 A G PASS 0/1 29 START_GAINED LOW None 0.42712 0.42710 0.41573 None None None None None None AGL|0.644094308|10.32%
View myexome-1 annotated mendelmd 1 rs1270853
dbSNP Clinvar
111991845 800.77 C A PASS 0/1 66 START_GAINED LOW None 0.53215 0.53210 None None None None None None WDR77|0.35150384|24%,ATP5F1|0.203070913|36.37%
View myexome-1 annotated mendelmd 1 rs856450
dbSNP Clinvar
145209366 224.77 A G PASS 0/1 12 START_GAINED LOW None None None None None None None NOTCH2NL|0.415307735|19.86%
View myexome-1 annotated mendelmd 1 rs2501339
dbSNP Clinvar
159825061 792.77 G C PASS 0/1 57 START_GAINED LOW None 0.63239 0.63240 0.39772 None None None None None None C1orf204|0.004343057|86.55%,VSIG8|0.077707151|55.73%
View myexome-1 annotated mendelmd 2 rs2303425
dbSNP Clinvar
47630213 157.85 T C PASS 1/1 6 START_GAINED LOW None 0.10084 0.10080 None None None None None None MSH2|0.976967025|1.57%
View myexome-1 annotated mendelmd 10 rs12772979
dbSNP Clinvar
1034412 904.77 C T PASS 0/1 69 START_GAINED LOW None 0.06869 0.06869 0.13432 None None None None None None GTPBP4|0.204407833|36.18%
View myexome-1 annotated mendelmd 10 rs3750684
dbSNP Clinvar
1779349 445.77 G A PASS 0/1 32 START_GAINED LOW None 0.44589 0.44590 0.45510 None None None None None None ADARB2|0.14627916|43.56%
View myexome-1 annotated mendelmd 10 rs3824593
dbSNP Clinvar
27444303 36.77 G A PASS 0/1 5 START_GAINED LOW None 0.39717 0.39720 None None None None None None MASTL|0.148437905|43.23%
View myexome-1 annotated mendelmd 10 rs7919803
dbSNP Clinvar
27444328 67.77 C A PASS 0/1 6 START_GAINED LOW None 0.50539 0.50540 0.16771 None None None None None None MASTL|0.148437905|43.23%
View myexome-1 annotated mendelmd 10 rs17499247
dbSNP Clinvar
35426755 500.77 A G PASS 0/1 50 START_GAINED LOW None 0.33586 0.33590 0.33774 None None None None None None CREM|0.862321906|4.43%
View myexome-1 annotated mendelmd 10 rs2577360
dbSNP Clinvar
118031619 53.74 G A PASS 1/1 2 START_GAINED LOW None 0.49980 0.49980 None None None None None None GFRA1|0.934619361|2.66%
View myexome-1 annotated mendelmd 10 rs10787669
dbSNP Clinvar
118187399 62.74 T G PASS 1/1 2 START_GAINED LOW None 0.57388 0.57390 None None None None None None PNLIPRP3|0.006971141|83.54%
View myexome-1 annotated mendelmd 11 rs1110206
dbSNP Clinvar
1507795 785.77 G A PASS 0/1 51 START_GAINED LOW None 0.37001 0.37000 None None None None None None MOB2|0.050027821|62.66%
View myexome-1 annotated mendelmd 11 rs489778
dbSNP Clinvar
62437647 38.77 G C PASS 0/1 4 START_GAINED LOW None 0.75020 0.75020 None None None None None None LBHD1|0.049109286|62.93%
View myexome-1 annotated mendelmd 11 rs1944612
dbSNP Clinvar
74862391 1266.77 A G PASS 1/1 39 START_GAINED LOW None 0.97584 0.97580 0.00054 None None None None None None SLCO2B1|0.05859888|60.24%
View myexome-1 annotated mendelmd 2 rs13431828
dbSNP Clinvar
102954653 1014.77 C T PASS 0/1 92 START_GAINED LOW None 0.15974 0.15970 None None None None None None IL1RL1|0.002389434|89.91%,IL18R1|0.00565161|85.04%
View myexome-1 annotated mendelmd 2 rs72927183
dbSNP Clinvar
177033779 507.77 C T PASS 0/1 23 START_GAINED LOW None 0.17572 0.17570 None None None None None None HOXD3|0.910642725|3.22%
View myexome-1 annotated mendelmd 2 rs13425452
dbSNP Clinvar
239139883 635.77 G C PASS 0/1 57 START_GAINED LOW None 0.19948 0.19950 None None None None None None None
View myexome-1 annotated mendelmd 3 rs2272153
dbSNP Clinvar
33481400 91.77 G C PASS 0/1 15 START_GAINED LOW None 0.32987 0.32990 None None None None None None UBP1|0.308948546|26.92%
View myexome-1 annotated mendelmd 3 rs2276868
dbSNP Clinvar
40498845 624.77 C T PASS 0/1 59 START_GAINED LOW None 0.47105 0.47100 0.44449 None None None None None None RPL14|0.064797243|58.69%
View myexome-1 annotated mendelmd 3 rs77825960
dbSNP Clinvar
58318677 49.77 A G PASS 0/1 6 START_GAINED LOW None 0.10044 0.10040 0.07221 None None None None None None PXK|0.375653665|22.34%
View myexome-1 annotated mendelmd 11 rs2306118
dbSNP Clinvar
108535792 230.77 C T PASS 0/1 16 START_GAINED LOW None 0.39677 0.39680 None None None None None None DDX10|0.277239812|29.33%
View myexome-1 annotated mendelmd 12 rs1048371
dbSNP Clinvar
55248357 2718.77 G T PASS 1/1 82 START_GAINED LOW None 0.54633 0.54630 0.40058 None None None None None None MUCL1|0.000067779|99.98%
View myexome-1 annotated mendelmd 12 rs1131017
dbSNP Clinvar
56435929 4474.77 C G PASS 1/1 141 START_GAINED LOW None 0.55591 0.55590 0.46494 None None None None None None RPS26|0.132252327|45.57%
View myexome-1 annotated mendelmd 12 rs759701087
dbSNP Clinvar
104359763 109.77 C T PASS 0/1 29 START_GAINED LOW None None None None None None None TDG|0.358733871|23.52%
View myexome-1 annotated mendelmd 12 rs372823872
dbSNP Clinvar
104359779 103.77 C T PASS 0/1 31 START_GAINED LOW None None None None None None None TDG|0.358733871|23.52%
View myexome-1 annotated mendelmd 12 rs143230003
dbSNP Clinvar
110906237 437.77 A C PASS 0/1 47 START_GAINED LOW None 0.00359 0.00359 None None None None None None GPN3|0.649143679|10.15%,FAM216A|0.082412997|54.7%
View myexome-1 annotated mendelmd 13 rs3825528
dbSNP Clinvar
52602919 564.77 A C PASS 0/1 39 START_GAINED LOW None 0.36841 0.36840 0.40365 None None None None None None ALG11|0.150634344|42.89%,UTP14C|0.006764409|83.75%
View myexome-1 annotated mendelmd 13 rs3751333
dbSNP Clinvar
95953617 225.77 G A PASS 0/1 9 START_GAINED LOW None 0.03614 0.03614 0.01597 None None None None None None ABCC4|0.142494523|44.07%
View myexome-1 annotated mendelmd 14 rs10135976
dbSNP Clinvar
21215728 832.77 G C PASS 0/1 74 START_GAINED LOW None 0.84784 0.84780 0.25642 None None None None None None EDDM3A|0.00113512|94.77%
View myexome-1 annotated mendelmd 14 rs7156953
dbSNP Clinvar
65016702 591.77 T G PASS 0/1 61 START_GAINED LOW None 0.82488 0.82490 0.19535 None None None None None None PPP1R36|0.100033434|51.18%
View myexome-1 annotated mendelmd 14 rs7148709
dbSNP Clinvar
92588219 865.77 G A PASS 1/1 26 START_GAINED LOW None 0.53954 0.53950 None None None None None None NDUFB1|0.068300052|57.87%
View myexome-1 annotated mendelmd 4 rs28672900
dbSNP Clinvar
69434217 3807.77 G A PASS 1/1 116 START_GAINED LOW None 0.99401 0.99400 0.00894 None None None None None None UGT2B17|0.003689216|87.45%
View myexome-1 annotated mendelmd 4 rs3756132
dbSNP Clinvar
71062256 100.77 C T PASS 0/1 14 START_GAINED LOW None 0.28335 0.28330 0.25273 None None None None None None ODAM|0.019873269|74.25%
View myexome-1 annotated mendelmd 4 rs28674149
dbSNP Clinvar
71384488 3429.77 C T PASS 1/1 94 START_GAINED LOW None 0.89736 0.89740 0.07481 None None None None None None AMTN|0.018262621|75.13%
View myexome-1 annotated mendelmd 4 rs116629607
dbSNP Clinvar
96470121 34.77 T C PASS 0/1 9 START_GAINED LOW None 0.01977 0.01977 None None None None None None UNC5C|0.689156139|8.83%
View myexome-1 annotated mendelmd 5 rs2291109
dbSNP Clinvar
31532429 637.77 A T PASS 1/1 21 START_GAINED LOW None 0.93890 0.93890 None None None None None None C5orf22|0.058342416|60.33%
View myexome-1 annotated mendelmd 5 rs78102202
dbSNP Clinvar
112770598 114.77 G A PASS 0/1 9 START_GAINED LOW None 0.02995 0.02995 None None None None None None MCC|0.469013944|17.21%,TSSK1B|0.004498175|86.4%
View myexome-1 annotated mendelmd 5 rs778594
dbSNP Clinvar
140027304 60.77 T C PASS 0/1 9 START_GAINED LOW None 0.37760 0.37760 None None None None None None NDUFA2|0.105624342|50.11%,IK|0.556266248|13.47%
View myexome-1 annotated mendelmd 5 rs17602721
dbSNP Clinvar
140699679 171.77 T C PASS 0/1 10 START_GAINED LOW None 0.04253 0.04253 None None None None None None TAF7|0.231437237|33.25%
View myexome-1 annotated mendelmd 6 rs198819
dbSNP Clinvar
26124430 708.77 C T PASS 0/1 51 START_GAINED LOW None 0.39038 0.39040 0.46809 None None None None None None HIST1H2AC|0.143382302|43.95%
View myexome-1 annotated mendelmd 6 rs62396221
dbSNP Clinvar
26285748 835.77 C A PASS 0/1 80 START_GAINED LOW None 0.00779 0.00779 0.00938 None None None None None None HIST1H4H|0.77799338|6.36%
View myexome-1 annotated mendelmd 6 rs2272884
dbSNP Clinvar
108279290 753.77 G A PASS 1/1 21 START_GAINED LOW None 0.92572 0.92570 None None None None None None SEC63|0.687731816|8.89%
View myexome-1 annotated mendelmd 15 rs954144
dbSNP Clinvar
78730591 787.77 C T PASS 1/1 24 START_GAINED LOW None 0.34425 0.34420 0.36839 None None None None None None IREB2|0.445763934|18.38%
View myexome-1 annotated mendelmd 15 rs3743365
dbSNP Clinvar
92937268 1588.77 G T PASS 1/1 34 START_GAINED LOW None 0.57628 0.57630 0.25263 None None None None None None ST8SIA2|0.471581284|17.11%
View myexome-1 annotated mendelmd 15 rs3743364
dbSNP Clinvar
92937276 1768.77 C T PASS 1/1 42 START_GAINED LOW None 0.57328 0.57330 0.26005 None None None None None None ST8SIA2|0.471581284|17.11%
View myexome-1 annotated mendelmd 16 rs841184
dbSNP Clinvar
4660342 521.77 C T PASS 1/1 16 START_GAINED LOW None 0.81709 0.81710 None None None None None None UBALD1|0.042128338|65.07%
View myexome-1 annotated mendelmd 16 rs1550477
dbSNP Clinvar
30773822 55.74 T C PASS 1/1 2 START_GAINED LOW None 0.96745 0.96750 0.03755 None None None None None None C16orf93|0.035000092|67.48%,RNF40|0.268448821|29.98%
View myexome-1 annotated mendelmd 17 rs2474694
dbSNP Clinvar
618039 136.03 G A PASS 1/1 4 START_GAINED LOW None 0.51298 0.51300 None None None None None None VPS53|0.411696194|20.07%
View myexome-1 annotated mendelmd 17 rs3815465
dbSNP Clinvar
1419853 147.77 C A PASS 0/1 9 START_GAINED LOW None 0.16214 0.16210 None None None None None None INPP5K|0.130172169|45.85%
View myexome-1 annotated mendelmd 17 rs6503230
dbSNP Clinvar
9479364 72.77 T C PASS 0/1 6 START_GAINED LOW None 0.72963 0.72960 None None None None None None STX8|0.539449279|14.22%
View myexome-1 annotated mendelmd 17 rs452531
dbSNP Clinvar
39341158 2001.77 G A PASS 1/1 60 START_GAINED LOW None 0.95208 0.95210 0.06652 None None None None None None KRTAP4-1|0.01050289|80.51%
View myexome-1 annotated mendelmd 17 rs449817
dbSNP Clinvar
39341266 692.77 A G PASS 1/1 20 START_GAINED LOW None 0.95208 0.95210 None None None None None None KRTAP4-1|0.01050289|80.51%
View myexome-1 annotated mendelmd 6 rs1546854
dbSNP Clinvar
166796433 668.77 C A PASS 1/1 19 START_GAINED LOW None 0.84066 0.84070 None None None None None None MPC1|0.108549535|49.45%
View myexome-1 annotated mendelmd 7 rs17166017
dbSNP Clinvar
12443390 338.77 G A PASS 0/1 24 START_GAINED LOW None 0.18191 0.18190 0.17641 None None None None None None VWDE|0.014104761|77.81%
View myexome-1 annotated mendelmd 7 rs10949938
dbSNP Clinvar
64254791 2016.77 G T PASS 1/1 67 START_GAINED LOW None 0.76258 0.76260 None None None None None None ZNF138|0.000985357|95.54%
View myexome-1 annotated mendelmd 7 rs6957446
dbSNP Clinvar
70597675 240.8 T C PASS 1/1 7 START_GAINED LOW None 0.39018 0.39020 None None None None None None WBSCR17|0.229160949|33.43%
View myexome-1 annotated mendelmd 7 rs4262
dbSNP Clinvar
93551428 776.77 C T PASS 1/1 23 START_GAINED LOW None 0.54673 0.54670 0.49493 None None None None None None GNG11|0.135734963|45.01%
View myexome-1 annotated mendelmd 8 rs1383942
dbSNP Clinvar
13357587 1692.77 G A PASS 1/1 50 START_GAINED LOW None 0.74161 0.74160 0.16293 None None None None None None DLC1|0.140256235|44.36%
View myexome-1 annotated mendelmd 8 rs2637819
dbSNP Clinvar
29207872 546.77 G A PASS 0/1 30 START_GAINED LOW None 0.37161 0.37160 None None None None None None DUSP4|0.105799709|50.05%
View myexome-1 annotated mendelmd 8 rs3808357
dbSNP Clinvar
103563907 147.77 G T PASS 0/1 20 START_GAINED LOW None 0.41793 0.41790 0.39251 None None None None None None ODF1|0.078200909|55.63%
View myexome-1 annotated mendelmd 9 rs2273784
dbSNP Clinvar
5339799 436.77 G A PASS 0/1 23 START_GAINED LOW None 0.09465 0.09465 None None None None None None RLN1|0.000291515|99.45%
View myexome-1 annotated mendelmd 9 rs11553814
dbSNP Clinvar
6328440 122.77 C T PASS 0/1 7 START_GAINED LOW None 0.12879 0.12880 None None None None None None TPD52L3|0.005696163|84.99%
View myexome-1 annotated mendelmd 19 rs6511905
dbSNP Clinvar
14142616 86.77 C G PASS 0/1 6 START_GAINED LOW None 0.49082 0.49080 None None None None None None IL27RA|0.003015931|88.61%
View myexome-1 annotated mendelmd 19 rs2081054
dbSNP Clinvar
21203552 1332.77 C T PASS 1/1 39 START_GAINED LOW None 0.91893 0.91890 0.05497 None None None None None None ZNF430|0.001266666|94.07%
View myexome-1 annotated mendelmd 19 rs2012013
dbSNP Clinvar
21541806 267.78 T C PASS 1/1 9 START_GAINED LOW None 0.60204 0.60200 None None None None None None ZNF738|0.001415309|93.26%
View myexome-1 annotated mendelmd 19 rs10405424
dbSNP Clinvar
23433107 841.77 G C PASS 1/1 25 START_GAINED LOW None 0.54113 0.54110 None None None None None None ZNF724P|0.00115952|94.65%
View myexome-1 annotated mendelmd 19 rs2364625
dbSNP Clinvar
23869941 825.77 A G PASS 1/1 24 START_GAINED LOW None 0.97304 0.97300 None None None None None None ZNF675|0.001544841|92.55%
View myexome-1 annotated mendelmd 19 rs638050
dbSNP Clinvar
49375676 2601.77 T C PASS 0/1 235 START_GAINED LOW None 0.41294 0.41290 None None None None None None PPP1R15A|0.005285601|85.45%
View myexome-1 annotated mendelmd 19 rs111775228
dbSNP Clinvar
49558667 307.77 T C PASS 0/1 35 START_GAINED LOW None 0.06835 None None None None None None CGB7|0.010694201|80.38%
View myexome-1 annotated mendelmd 10 rs3763676
dbSNP Clinvar
5136499 58.74 A G PASS 1/1 2 START_GAINED LOW None 0.22264 0.22260 None None None None None None AKR1C3|0.002438134|89.81%
View myexome-1 annotated mendelmd 10 rs17499247
dbSNP Clinvar
35426755 500.77 A G PASS 0/1 50 START_GAINED LOW None 0.33586 0.33590 0.33774 None None None None None None CREM|0.862321906|4.43%
View myexome-1 annotated mendelmd 10 rs2577360
dbSNP Clinvar
118031619 53.74 G A PASS 1/1 2 START_GAINED LOW None 0.49980 0.49980 None None None None None None GFRA1|0.934619361|2.66%
View myexome-1 annotated mendelmd 10 rs10787669
dbSNP Clinvar
118187399 62.74 T G PASS 1/1 2 START_GAINED LOW None 0.57388 0.57390 None None None None None None PNLIPRP3|0.006971141|83.54%
View myexome-1 annotated mendelmd 11 rs11517718
dbSNP Clinvar
8693405 3653.77 G A,T PASS 1/2 122 START_GAINED LOW None 0.14816 0.49000 None None None None None None TRIM66|0.134931954|45.11%
View myexome-1 annotated mendelmd 11 rs489778
dbSNP Clinvar
62437647 38.77 G C PASS 0/1 4 START_GAINED LOW None 0.75020 0.75020 None None None None None None LBHD1|0.049109286|62.93%
View myexome-1 annotated mendelmd 11 rs3751122
dbSNP Clinvar
63953121 39.77 G T PASS 0/1 3 START_GAINED LOW None 0.20587 0.20590 None None None None None None STIP1|0.278359913|29.24%
View myexome-1 annotated mendelmd 11 rs2073797
dbSNP Clinvar
64511050 694.77 G C PASS 1/1 22 START_GAINED LOW None 0.70248 0.70250 None None None None None None RASGRP2|0.194610558|37.32%
View myexome-1 annotated mendelmd 11 rs200999189
dbSNP Clinvar
71640066 163.77 C T PASS 0/1 17 START_GAINED LOW None 0.00080 0.00080 0.00117 None None None None None None RNF121|0.539135649|14.24%