SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
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
RESET FILTER | Save Config | Save Analysis

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: 428
Number of Genes: 8

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 grc14378018_exome 1 rs3000859
dbSNP Clinvar
12776344 1484.13 A T . 0/1 55 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 grc14378018_exome 8 rs59118660
dbSNP Clinvar
38965271 166.48 C T . 0/1 27 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 grc14378018_exome 1 rs3811465
dbSNP Clinvar
222886119 1484.13 A G . 0/1 39 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 grc14378018_exome X rs963618
dbSNP Clinvar
100743037 1484.13 C T . 1/1 51 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 grc14378018_exome 12 rs2258227
dbSNP Clinvar
121454257 1484.13 T A . 0/1 140 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 grc14378018_exome 5 rs2578618
dbSNP Clinvar
10250443 1484.13 T C,G . 1/1 273 START_GAINED LOW None 0.68530 0.68530 0.28195 0.00 None None None None None None CCT5|0.365250197|23.05%

NUDT18

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 grc14378018_exome 8 rs113802124
dbSNP Clinvar
21966876 399.529 G C . 0/1 36 START_GAINED LOW None 0.00978 0.00978 0.00 None None None None None None NUDT18|0.065277959|58.56%

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 grc14378018_exome 15 rs77989486
dbSNP Clinvar
65903400 1484.13 G A,T . 0/1 83 START_GAINED LOW None 0.05651 0.05651 0.00 None None None None None None VWA9|0.263262365|30.45%
View grc14378018_exome 15 rs4366668
dbSNP Clinvar
65903398 1484.13 G A . 0/1 82 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 grc14378018_exome 1 rs370474145
dbSNP Clinvar
12888607 1484.13 A C . 0/1 119 START_GAINED LOW None None None None None None None None
View grc14378018_exome 1 rs61777019
dbSNP Clinvar
12891257 1484.13 A G,T . 0/1 250 START_GAINED LOW None None None None None None None None
View grc14378018_exome 1 rs201146971
dbSNP Clinvar
13736937 313.333 T C . 0/1 51 START_GAINED LOW None None None None None None None PRAMEF20|0.00052591|98.29%
View grc14378018_exome 1 . 13736963 14.3943 C T,A . 0/1 17 START_GAINED LOW None None None None None None None PRAMEF20|0.00052591|98.29%
View grc14378018_exome 1 rs6687474
dbSNP Clinvar
15911493 461.033 A G . 0/1 34 START_GAINED LOW None 0.61282 0.61280 None None None None None None DNAJC16|0.148396459|43.23%,AGMAT|0.096094359|51.91%
View grc14378018_exome 1 rs16827981
dbSNP Clinvar
23435538 1484.13 G A . 0/1 81 START_GAINED LOW None 0.13259 0.13260 None None None None None None LUZP1|0.067512141|58.01%
View grc14378018_exome 1 rs3008239
dbSNP Clinvar
26324582 1484.13 T G . 1/1 78 START_GAINED LOW None 0.99820 0.99820 None None None None None None PAFAH2|0.12707812|46.33%
View grc14378018_exome 1 rs2232648
dbSNP Clinvar
26496455 1484.13 C T . 1/1 45 START_GAINED LOW None 0.18251 0.18250 0.18404 None None None None None None ZNF593|0.143613377|43.93%
View grc14378018_exome 1 rs2660565
dbSNP Clinvar
37940175 384.422 A G . 1/1 21 START_GAINED LOW None 0.99720 0.99720 None None None None None None ZC3H12A|0.027676746|70.56%
View grc14378018_exome 1 rs71640742
dbSNP Clinvar
38097519 1484.13 A C . 0/1 50 START_GAINED LOW None 0.05591 0.05591 None None None None None None RSPO1|0.525029197|14.76%
View grc14378018_exome 1 rs11547138
dbSNP Clinvar
39457016 42.2734 C T . 0/1 14 START_GAINED LOW None 0.15256 0.15260 None None None None None None AKIRIN1|0.224041938|33.95%
View grc14378018_exome 1 rs7546268
dbSNP Clinvar
45965340 1484.13 T C . 0/1 87 START_GAINED LOW None 0.82528 0.82530 0.29238 None None None None None None CCDC163P|0.014743479|77.34%
View grc14378018_exome 1 rs12402259
dbSNP Clinvar
46126179 1484.13 T A . 0/1 66 START_GAINED LOW None 0.02157 0.02157 None None None None None None GPBP1L1|0.428874511|19.18%
View grc14378018_exome 1 rs12723911
dbSNP Clinvar
54065924 1484.13 G A . 1/1 136 START_GAINED LOW None 0.70168 0.70170 None None None None None None GLIS1|0.109284462|49.32%
View grc14378018_exome 1 rs2500341
dbSNP Clinvar
55464790 1484.13 C G . 1/1 61 START_GAINED LOW None 0.59505 0.59500 None None None None None None BSND|0.012671316|78.77%
View grc14378018_exome 1 rs1412825
dbSNP Clinvar
74663814 1484.13 C G,T . 1/1 36 START_GAINED LOW None 0.44429 0.44430 None None None None None None LRRIQ3|0.012268329|79.06%
View grc14378018_exome 1 rs74924523
dbSNP Clinvar
92545968 1484.13 G T . 0/1 160 START_GAINED LOW None 0.01957 0.01957 None None None None None None BTBD8|0.094895477|52.15%
View grc14378018_exome 1 rs2307130
dbSNP Clinvar
100316589 1140.87 A G . 0/1 33 START_GAINED LOW None 0.42712 0.42710 0.41573 None None None None None None AGL|0.644094308|10.32%
View grc14378018_exome 1 rs2809822
dbSNP Clinvar
101004010 101.651 C T . 1/1 14 START_GAINED LOW None 0.98922 0.98920 None None None None None None GPR88|0.075069492|56.28%
View grc14378018_exome 1 rs1270853
dbSNP Clinvar
111991845 1484.13 C A . 1/1 74 START_GAINED LOW None 0.53215 0.53210 None None None None None None WDR77|0.35150384|24%,ATP5F1|0.203070913|36.37%
View grc14378018_exome 1 rs4074537
dbSNP Clinvar
116311198 1484.13 T C,A . 1/1 57 START_GAINED LOW None 0.96246 0.96250 0.04292 None None None None None None CASQ2|0.441097582|18.61%
View grc14378018_exome 1 rs6657335
dbSNP Clinvar
117664046 1484.13 C T . 1/1 70 START_GAINED LOW None 0.76558 0.76560 None None None None None None TRIM45|0.049376567|62.84%
View grc14378018_exome 1 rs587605411
dbSNP Clinvar
150947293 35.0713 T A . 0/1 14 START_GAINED LOW None 0.00859 0.00859 None None None None None None CERS2|0.18131785|38.87%
View grc14378018_exome 1 rs4495675
dbSNP Clinvar
192127637 20.4831 T G . 0/1 11 START_GAINED LOW None 0.43970 0.43970 None None None None None None RGS18|0.261688332|30.6%
View grc14378018_exome 1 rs74621188
dbSNP Clinvar
200639047 570.517 T G,C . 0/1 33 START_GAINED LOW None 0.74201 0.74200 None None None None None None DDX59|0.015678189|76.66%
View grc14378018_exome 2 rs10176303
dbSNP Clinvar
37311415 1484.13 G C,A . 0/1 173 START_GAINED LOW None 0.05471 0.05471 None None None None None None HEATR5B|0.210965994|35.45%
View grc14378018_exome 2 rs7233
dbSNP Clinvar
42396722 34.0577 A G . 1/1 8 START_GAINED LOW None 0.69888 0.69890 0.29240 None None None None None None EML4|0.549806246|13.73%
View grc14378018_exome 2 rs782594
dbSNP Clinvar
55844445 1484.13 T C,A . 0/1 100 START_GAINED LOW None 0.31550 0.31550 0.45324 None None None None None None SMEK2|0.776234892|6.41%
View grc14378018_exome 4 rs1049539
dbSNP Clinvar
88450348 1484.13 T C . 0/1 94 START_GAINED LOW None 0.35963 0.35960 None None None None None None SPARCL1|0.010973476|80.08%
View grc14378018_exome 4 rs4254747
dbSNP Clinvar
175839555 1484.13 A G . 0/1 74 START_GAINED LOW None 0.73542 0.73540 None None None None None None ADAM29|0.000578944|98.03%
View grc14378018_exome 4 rs140644833
dbSNP Clinvar
184580315 1484.13 C A . 0/1 56 START_GAINED LOW None 0.04034 0.04034 None None None None None None RWDD4|0.176603604|39.45%
View grc14378018_exome 4 rs1398007
dbSNP Clinvar
187112832 17.249 C T . 1/1 4 START_GAINED LOW None 0.35583 0.35580 None None None None None None CYP4V2|0.027940176|70.46%
View grc14378018_exome 5 rs478020
dbSNP Clinvar
153429169 1484.13 A G . 0/1 71 START_GAINED LOW None 0.61841 0.61840 None None None None None None MFAP3|0.142826703|44.01%
View grc14378018_exome 5 rs7717016
dbSNP Clinvar
159826674 1484.13 T C . 0/1 57 START_GAINED LOW None 0.29373 0.29370 None None None None None None ZBED8|0.027160632|70.8%
View grc14378018_exome 5 rs17057781
dbSNP Clinvar
159846074 1484.13 A G . 0/1 63 START_GAINED LOW None 0.16374 0.16370 None None None None None None SLU7|0.456973061|17.82%
View grc14378018_exome 5 rs3811995
dbSNP Clinvar
161112693 26.2024 C T . 0/1 12 START_GAINED LOW None 0.39677 0.39680 None None None None None None GABRA6|0.367075597|22.96%
View grc14378018_exome 5 rs548409327
dbSNP Clinvar
175395242 1484.13 C T . 0/1 498 START_GAINED LOW None 0.00040 0.00040 None None None None None None THOC3|0.067416245|58.06%
View grc14378018_exome 6 rs13190937
dbSNP Clinvar
28411244 1484.13 G A . 0/1 115 START_GAINED LOW None 0.28255 0.28250 None None None None None None ZSCAN23|0.009797905|81%
View grc14378018_exome 6 rs2803496
dbSNP Clinvar
41196156 1484.13 C T . 1/1 146 START_GAINED LOW None 0.89097 0.89100 0.13496 None None None None None None TREML4|0.0003863|99.03%
View grc14378018_exome 6 rs11752816
dbSNP Clinvar
46107312 1484.13 G A . 0/1 61 START_GAINED LOW None 0.17871 0.17870 0.11886 None None None None None None ENPP4|0.141883971|44.16%
View grc14378018_exome 7 rs7796976
dbSNP Clinvar
17338430 1484.13 A G . 1/1 70 START_GAINED LOW None 0.77895 0.77900 None None None None None None AHR|0.22557491|33.82%
View grc14378018_exome 7 rs4262
dbSNP Clinvar
93551428 1484.13 C T . 0/1 78 START_GAINED LOW None 0.54673 0.54670 0.49493 None None None None None None GNG11|0.135734963|45.01%
View grc14378018_exome 9 rs796247178
dbSNP Clinvar
69202059 1484.13 T C . 0/1 647 START_GAINED LOW None None None None None None None FOXD4L6|0.00355914|87.68%
View grc14378018_exome 7 rs10259901
dbSNP Clinvar
129986029 1484.13 A T . 1/1 54 START_GAINED LOW None 0.59345 0.59350 None None None None None None CPA5|0.095214561|52.05%
View grc14378018_exome 8 rs12550009
dbSNP Clinvar
15397820 1484.13 C T . 0/1 85 START_GAINED LOW None 0.22005 0.22000 None None None None None None TUSC3|0.220184482|34.41%
View grc14378018_exome 8 . 19540255 1484.13 G A . 0/1 80 START_GAINED LOW None None None None None None None CSGALNACT1|0.134495825|45.18%
View grc14378018_exome 8 rs11547658
dbSNP Clinvar
22089477 1484.13 G A,T . 0/1 107 START_GAINED LOW None 0.29752 0.29750 None None None None None None PHYHIP|0.47694115|16.9%
View grc14378018_exome 8 rs4871990
dbSNP Clinvar
22132837 1484.13 C T . 0/1 75 START_GAINED LOW None 0.74820 0.74820 None None None None None None PIWIL2|0.221292794|34.27%
View grc14378018_exome 8 rs73212806
dbSNP Clinvar
22526609 1484.13 G A . 0/1 108 START_GAINED LOW None 0.01797 0.01797 0.04815 None None None None None None BIN3|0.312765796|26.64%
View grc14378018_exome 8 rs17685420
dbSNP Clinvar
22785401 1484.13 C T . 0/1 138 START_GAINED LOW None 0.15715 0.15710 None None None None None None PEBP4|0.009493021|81.28%
View grc14378018_exome 8 rs3739291
dbSNP Clinvar
124194968 998.633 C T . 0/1 58 START_GAINED LOW None 0.12580 0.12580 None None None None None None FAM83A|0.055770523|60.98%
View grc14378018_exome 8 rs72647326
dbSNP Clinvar
126442635 1484.13 C G . 0/1 71 START_GAINED LOW None 0.06709 0.06709 None None None None None None TRIB1|0.316052026|26.35%
View grc14378018_exome 8 rs2294008
dbSNP Clinvar
143761931 1484.13 C T,A . 0/1 168 START_GAINED LOW None 0.40515 0.40520 0.41872 None None None None None None PSCA|0.002544027|89.58%
View grc14378018_exome 9 rs2490582
dbSNP Clinvar
79009106 1484.13 A C . 1/1 36 START_GAINED LOW None 0.99940 0.99940 0.00094 None None None None None None RFK|0.049264247|62.87%
View grc14378018_exome 9 rs12349389
dbSNP Clinvar
79792438 491.286 G C . 0/1 28 START_GAINED LOW None 0.08446 0.08446 None None None None None None VPS13A|0.225004241|33.87%
View grc14378018_exome 9 rs1187325
dbSNP Clinvar
87285595 1484.14 C G,T . 0/1 65 START_GAINED LOW None 0.49581 0.49580 None None None None None None NTRK2|0.922283542|2.93%
View grc14378018_exome 2 rs11554586
dbSNP Clinvar
127864546 57.3965 G A . 0/1 21 START_GAINED LOW None 0.09345 0.09345 0.12683 None None None None None None BIN1|0.158796127|41.75%
View grc14378018_exome 2 rs79351052
dbSNP Clinvar
132919488 31.5005 C G . 0/1 99 START_GAINED LOW None None None None None None None ANKRD30BL|0.00124875|94.17%
View grc14378018_exome 2 rs3811566
dbSNP Clinvar
153574642 1484.13 G C . 1/1 60 START_GAINED LOW None 0.00120 0.80210 None None None None None None ARL6IP6|0.053038982|61.77%
View grc14378018_exome 2 rs45618941
dbSNP Clinvar
223162892 1484.13 C T . 0/1 79 START_GAINED LOW None 0.01777 0.01777 None None None None None None PAX3|0.998180275|0.54%,CCDC140|0.00066205|97.47%
View grc14378018_exome 3 rs73068589
dbSNP Clinvar
38992033 1484.14 C A . 0/1 35 START_GAINED LOW None 0.21506 0.21510 None None None None None None SCN11A|0.032044427|68.6%
View grc14378018_exome 3 rs2276868
dbSNP Clinvar
40498845 1484.13 C T . 0/1 63 START_GAINED LOW None 0.47105 0.47100 0.44449 None None None None None None RPL14|0.064797243|58.69%
View grc14378018_exome 3 rs72865716
dbSNP Clinvar
42742638 1484.13 G A . 0/1 87 START_GAINED LOW None 0.20507 0.20510 None None None None None None HHATL|0.109622358|49.27%,CCDC13|0.02751687|70.65%
View grc14378018_exome 3 rs2700408
dbSNP Clinvar
123595432 1484.13 G A . 1/1 97 START_GAINED LOW None 0.66973 0.66970 None None None None None None MYLK|0.503223171|15.7%
View grc14378018_exome 3 rs12011
dbSNP Clinvar
184429718 1136.71 A G . 0/1 33 START_GAINED LOW None 0.52236 0.52240 None None None None None None MAGEF1|0.006287467|84.31%
View grc14378018_exome 3 rs344954
dbSNP Clinvar
187896731 675.379 A G . 1/1 24 START_GAINED LOW None 0.70068 0.70070 None None None None None None LPP|0.866185415|4.34%
View grc14378018_exome 3 rs1773218
dbSNP Clinvar
194407020 1484.13 A G . 1/1 80 START_GAINED LOW None 0.71146 0.71150 None None None None None None FAM43A|0.12266673|47%
View grc14378018_exome 4 rs7655084
dbSNP Clinvar
20255306 1484.13 G T . 1/1 133 START_GAINED LOW None 0.82288 0.82290 None None None None None None SLIT2|0.660000653|9.71%
View grc14378018_exome 4 rs2279028
dbSNP Clinvar
37903669 1484.13 A G,T . 0/1 45 START_GAINED LOW None 0.39916 0.39920 0.32599 None None None None None None TBC1D1|0.072752913|56.83%
View grc14378018_exome 4 rs5743596
dbSNP Clinvar
38802528 1484.13 G A . 0/1 60 START_GAINED LOW None 0.13878 0.13880 None None None None None None TLR1|0.255603252|31.06%
View grc14378018_exome 4 rs5743566
dbSNP Clinvar
38805942 1484.13 G C . 1/1 53 START_GAINED LOW None 0.17971 0.17970 None None None None None None TLR1|0.255603252|31.06%
View grc14378018_exome 4 rs5743565
dbSNP Clinvar
38805983 1484.13 T C . 1/1 51 START_GAINED LOW None 0.17991 0.17990 None None None None None None TLR1|0.255603252|31.06%
View grc14378018_exome 9 rs12340011
dbSNP Clinvar
110251860 58.9228 A G . 1/1 11 START_GAINED LOW None 1.00000 1.00000 None None None None None None KLF4|0.966637832|1.81%
View grc14378018_exome 9 rs9299214
dbSNP Clinvar
116035696 1484.13 A G . 0/1 94 START_GAINED LOW None 0.45847 0.45850 None None None None None None CDC26|0.315185523|26.42%
View grc14378018_exome 9 rs2297814
dbSNP Clinvar
117267172 19.0207 G A . 0/1 10 START_GAINED LOW None 0.25539 0.25540 None None None None None None DFNB31|0.180385449|38.98%
View grc14378018_exome 9 rs2811728
dbSNP Clinvar
139642961 1484.14 G A . 0/1 38 START_GAINED LOW None 0.44549 0.44550 0.40328 None None None None None None LCN6|0.003987265|87.05%
View grc14378018_exome 10 rs61848837
dbSNP Clinvar
51623335 32.6304 C A . 0/1 25 START_GAINED LOW None None None None None None None TIMM23|0.309726083|26.85%
View grc14378018_exome 10 rs4935425
dbSNP Clinvar
51827763 1484.13 A G . 0/1 78 START_GAINED LOW None 0.27875 0.27880 0.14779 None None None None None None FAM21A|0.010195969|80.72%
View grc14378018_exome 10 rs10998072
dbSNP Clinvar
70091923 1484.13 T C . 0/1 121 START_GAINED LOW None 0.20807 0.20810 None None None None None None PBLD|0.085894164|53.96%,HNRNPH3|0.935410291|2.65%
View grc14378018_exome 10 rs3014203
dbSNP Clinvar
105253930 30.6805 C T . 0/1 12 START_GAINED LOW None 0.91534 0.91530 None None None None None None NEURL1|0.384836574|21.72%
View grc14378018_exome 10 rs141533482
dbSNP Clinvar
106093522 1484.13 G A . 0/1 51 START_GAINED LOW None 0.00339 0.00340 None None None None None None ITPRIP|0.094156954|52.32%
View grc14378018_exome 10 rs2577360
dbSNP Clinvar
118031619 1484.13 G A . 0/1 85 START_GAINED LOW None 0.49980 0.49980 None None None None None None GFRA1|0.934619361|2.66%
View grc14378018_exome 11 rs12364644
dbSNP Clinvar
94758710 1484.13 T C . 0/1 69 START_GAINED LOW None 0.18485 None None None None None None KDM4E|0.001644855|92.14%
View grc14378018_exome 11 rs7105709
dbSNP Clinvar
101787112 17.5456 A G . 0/1 8 START_GAINED LOW None 0.45008 0.45010 None None None None None None ANGPTL5|0.084272942|54.36%,CEP126|0.022563713|72.89%
View grc14378018_exome 11 rs10895893
dbSNP Clinvar
105891999 1484.13 A G . 0/1 92 START_GAINED LOW None 0.19249 0.19250 None None None None None None MSANTD4|0.238445804|32.56%
View grc14378018_exome 11 rs7127721
dbSNP Clinvar
111168767 1484.13 C T,A . 0/1 79 START_GAINED LOW None 0.30471 0.30470 None None None None None None COLCA1|0.000728869|97.13%
View grc14378018_exome 12 rs7976591
dbSNP Clinvar
6602468 16.4243 G A . 1/1 5 START_GAINED LOW None 0.35144 0.35140 None None None None None None MRPL51|0.145374443|43.65%
View grc14378018_exome 12 rs7295783
dbSNP Clinvar
8276432 1484.13 C T . 1/1 53 START_GAINED LOW None 0.81210 0.81210 0.15977 None None None None None None CLEC4A|0.002020557|90.94%
View grc14378018_exome 12 rs2970176
dbSNP Clinvar
8380119 1484.13 G T . 0/1 262 START_GAINED LOW None 0.34405 0.34400 None None None None None None FAM90A1|0.000638586|97.62%
View grc14378018_exome 12 rs112263725
dbSNP Clinvar
8850706 1484.13 G T . 0/1 41 START_GAINED LOW None 0.13858 0.13860 None None None None None None RIMKLB|0.472687308|17.06%
View grc14378018_exome 12 rs200777769
dbSNP Clinvar
50344598 1484.13 C T . 0/1 88 START_GAINED LOW None 0.00008 None None None None None None AQP2|0.155383896|42.24%