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

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 131
Number of Genes: 1

Export to: CSV

RBM6

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 combined sample_50.variant14 3 rs751626525
dbSNP Clinvar
50098993 419.42 CTTTT CT... PASS 3/3 38 None None None None None None None None None RBM6|0.375632091|22.35%
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 combined sample_50.variant14 1 . 27992800 476.74 CA CA... PASS 3/3 11 None None None None None None None None None IFI6|0.002694525|89.24%
View combined sample_50.variant14 1 . 32044641 1710.94 G GT... PASS 3/3 26 None None None None None None None None None TINAGL1|0.063040472|59.09%
View combined sample_50.variant14 1 rs71695861,rs398053122
dbSNP Clinvar
75172756 509.32 TAA TA... PASS 3/3 54 None None None None None None None None None CRYZ|0.12483251|46.66%
View combined sample_50.variant14 1 rs200924427
dbSNP Clinvar
179317895 932.01 AT... AT... PASS 3/3 31 None None None None None None None None None SOAT1|0.187641103|38.09%
View combined sample_50.variant14 4 . 16168614 36.12 CTT C,... PASS 3/3 2 None None None None None None None None None TAPT1|0.263958572|30.38%
View combined sample_50.variant14 2 rs763791656
dbSNP Clinvar
211036019 794.42 GG... GG... PASS 3/3 6 None None None None None None None None None KANSL1L|0.271793554|29.78%
View combined sample_50.variant14 3 rs36055094
dbSNP Clinvar
8784046 131.07 C CA... PASS 3/3 7 None None None None None None None None None SSUH2|0.023073982|72.66%,CAV3|0.509446113|15.4%
View combined sample_50.variant14 3 . 151538304 596.94 CTT CT... PASS 3/3 16 None None None None None None None None None AADAC|0.00221398|90.39%
View combined sample_50.variant14 4 . 109810573 278.04 AT... AT... PASS 3/3 8 None None None None None None None None None COL25A1|0.612068275|11.4%
View combined sample_50.variant14 5 rs530676282,rs368360524
dbSNP Clinvar
1799989 171.03 CG CG... PASS 3/3 17 None None None 0.37121 0.37120 None None None None None None MRPL36|0.002012562|90.97%
View combined sample_50.variant14 5 rs11442944
dbSNP Clinvar
4095683 223.9 C CT... PASS 3/3 7 None None None 0.47704 0.47700 None None None None None None None
View combined sample_50.variant14 5 rs141222541
dbSNP Clinvar
52251176 4339.05 CA... C,... PASS 3/3 61 None None None 0.40635 0.40630 None None None None None None ITGA1|0.38715487|21.59%
View combined sample_50.variant14 5 rs375484670,rs386404300
dbSNP Clinvar
82135830 597.21 C CA... PASS 3/3 4 None None None 0.97943 0.97940 None None None None None None None
View combined sample_50.variant14 6 rs70991068,rs571567653
dbSNP Clinvar
10891651 218.04 ATTTT AT... PASS 3/3 2 None None None None None None None None None SYCP2L|0.010875292|80.19%
View combined sample_50.variant14 6 rs369269451
dbSNP Clinvar
133079159 68.96 TC... TT... PASS 3/3 8 None None None None None None None None None VNN2|0.005428833|85.31%
View combined sample_50.variant14 7 rs570691384
dbSNP Clinvar
15470543 96.9 GT GT... PASS 3/3 7 None None None 0.19868 0.19870 None None None None None None AGMO|0.125513442|46.55%
View combined sample_50.variant14 7 rs113503344
dbSNP Clinvar
21905938 96.14 CA CA... PASS 3/3 1 None None None None None None None None None DNAH11|0.38215847|21.9%
View combined sample_50.variant14 7 rs58295141,rs10268443
dbSNP Clinvar
38543104 2206.53 G C,... PASS 3/3 21 None None None 0.31789 0.31790 None None None None None None AMPH|0.168231418|40.54%
View combined sample_50.variant14 7 rs780401264
dbSNP Clinvar
43665352 622.22 CAGAG CA... PASS 3/3 19 None None None None None None None None None STK17A|0.045556394|64.03%,COA1|0.003135532|88.41%
View combined sample_50.variant14 7 rs370984666
dbSNP Clinvar
139746521 318.77 AG... AG... PASS 3/3 10 None None None None None None None None None PARP12|0.044712183|64.27%
View combined sample_50.variant14 7 rs796351129,rs569248538
dbSNP Clinvar
143047873 210.81 CTT CT... PASS 3/3 8 None None None None None None None None None CLCN1|0.158802473|41.75%
View combined sample_50.variant14 8 . 71581899 106.78 ATTTT A,... PASS 3/3 6 None None None None None None None None None XKR9|0.041312376|65.36%
View combined sample_50.variant14 8 . 71075146 110.81 AT AT... PASS 3/3 6 None None None None None None None None None NCOA2|0.961655489|1.93%
View combined sample_50.variant14 10 . 92672048 314.54 TA... TA... PASS 3/3 35 None None None None None None None None None ANKRD1|0.375758485|22.32%
View combined sample_50.variant14 10 . 114185353 45.6 TAA TA... PASS 3/3 3 None None None None None None None None None ACSL5|0.090893632|53.06%
View combined sample_50.variant14 10 rs782325219
dbSNP Clinvar
118466662 1358.46 GC... GC... PASS 3/3 23 None None None None None None None None None HSPA12A|0.32170374|26.03%
View combined sample_50.variant14 14 . 23281982 86.65 CT... CT... PASS 3/3 3 None None None None None None None None None SLC7A7|0.311807291|26.7%
View combined sample_50.variant14 14 . 73959703 693.61 CT CT... PASS 3/3 33 None None None None None None None None None HEATR4|0.005039419|85.75%
View combined sample_50.variant14 15 . 59913070 130.65 CTTTT CT... PASS 3/3 8 None None None None None None None None None GCNT3|0.055622139|61.04%
View combined sample_50.variant14 16 . 20708878 322.51 TA... TA... PASS 3/3 24 None None None None None None None None None ACSM3|0.167284946|40.62%,ACSM1|0.006779542|83.72%
View combined sample_50.variant14 16 . 21994284 110.83 CAA C,... PASS 3/3 6 None None None None None None None None None UQCRC2|0.300516158|27.63%
View combined sample_50.variant14 17 rs371115974
dbSNP Clinvar
5116303 365.43 C CT... PASS 3/3 1 None None None None None None None None None SCIMP|0.003653107|87.51%
View combined sample_50.variant14 17 . 18208789 31.21 AAC AA... PASS 3/3 12 None None None None None None None None None TOP3A|0.330525347|25.46%
View combined sample_50.variant14 18 rs564378270,rs10617278
dbSNP Clinvar
812328 142.73 GCCCC GC... PASS 3/3 3 None None None 0.98482 0.98480 None None None None None None YES1|0.823064094|5.24%
View combined sample_50.variant14 18 rs10651301,rs58012253
dbSNP Clinvar
5197503 482.4 C CA... PASS 3/3 14 None None None None None None None None None None
View combined sample_50.variant14 18 . 32838833 193.57 CA... C,... PASS 3/3 4 None None None None None None None None None ZNF397|0.019004242|74.67%,ZSCAN30|0.013257278|78.33%
View combined sample_50.variant14 18 rs201936844,rs55849071
dbSNP Clinvar
67515009 1113.28 A T,... PASS 3/3 5 None None None 0.56190 0.88300 None None None None None None DOK6|0.414097507|19.92%,CD226|0.|85.1%
View combined sample_50.variant14 19 rs752954723
dbSNP Clinvar
15225438 334.26 GC G,... PASS 3/3 7 None None None None None None None None None SYDE1|0.041852611|65.16%
View combined sample_50.variant14 19 rs59258670,rs796243818
dbSNP Clinvar
44006609 165.09 CT CT... PASS 3/3 18 None None None 0.16913 0.16910 None None None None None None PHLDB3|0.011111956|79.96%
View combined sample_50.variant14 19 rs760662320
dbSNP Clinvar
54105521 836.94 GG... G,... PASS 3/3 34 None None None None None None None None None None
View combined sample_50.variant14 20 . 42225376 59.69 CT... CT... PASS 3/3 5 None None None None None None None None None IFT52|0.386520609|21.64%
View combined sample_50.variant14 20 rs149996168,rs71195440
dbSNP Clinvar
60900171 142.73 G GG... PASS 3/3 15 None None None None None None None None None LAMA5|0.046968919|63.61%
View combined sample_50.variant14 22 rs780469740
dbSNP Clinvar
30844553 94.8 TAAA TA... PASS 3/3 6 None None None None None None None None None SEC14L3|0.147250694|43.43%
View combined sample_50.variant14 22 rs151165173,rs58327765
dbSNP Clinvar
30863234 501.49 A AC... PASS 3/3 3 None None None None None None None None None SEC14L3|0.147250694|43.43%
View combined sample_50.variant14 X . 45606319 307.28 AG... AG... PASS 3/3 18 None None None None None None None None None None
View combined sample_50.variant14 X . 131337534 596.86 TG... TG... PASS 3/3 25 None None None None None None None None None RAP2C|0.675911259|9.2%
View combined sample_50.variant14 1 rs771634818,rs138734960,rs59649331
dbSNP Clinvar
3761262 142.73 C CA... PASS 3/3 3 None None None None None None None None None CEP104|0.016991297|75.85%
View combined sample_50.variant14 X . 144902643 225.21 TCACA TC... PASS 3/3 4 None None None None None None None None None SLITRK2|0.374195221|22.45%
View combined sample_50.variant14 1 . 16370873 1073.12 C CA... PASS 3/3 26 None None None 0.72624 None None None None None None CLCNKB|0.024900854|71.85%
View combined sample_50.variant14 1 rs756474860
dbSNP Clinvar
45961327 200.49 CT... CT... PASS 3/3 3 None None None None None None None None None CCDC163P|0.014743479|77.34%
View combined sample_50.variant14 1 rs34366135
dbSNP Clinvar
62417952 476.85 A AG... PASS 3/3 13 None None None None None None None None None INADL|0.105153826|50.2%
View combined sample_50.variant14 1 rs781809390
dbSNP Clinvar
145472558 1437.38 GCCC G,... PASS 3/3 57 None None None None None None None None None ANKRD34A|0.19061906|37.75%
View combined sample_50.variant14 1 . 236924732 272.02 CG... C,... PASS 3/3 9 None None None None None None None None None ACTN2|0.55570405|13.49%
View combined sample_50.variant14 1 rs71570909,rs57809020
dbSNP Clinvar
242048514 148.84 G GT... PASS 3/3 1 None None None 0.09704 0.14020 None None None None None None EXO1|0.567140153|13.1%
View combined sample_50.variant14 2 . 38971040 3166.29 GT GT... PASS 3/3 85 None None None None None None None None None SRSF7|0.658895826|9.75%
View combined sample_50.variant14 2 . 39181774 40.09 CTTT CT... PASS 3/3 6 None None None None None None None None None ARHGEF33|0.317513071|26.27%
View combined sample_50.variant14 2 rs144890858
dbSNP Clinvar
100167615 121.6 GGTGT G,... PASS 3/3 3 None None None None None None None None None AFF3|0.40331812|20.57%
View combined sample_50.variant14 2 rs571309687
dbSNP Clinvar
169104054 2204.67 C CC... PASS 3/3 75 None None None 0.42931 0.42930 None None None None None None STK39|0.757526204|6.91%
View combined sample_50.variant14 3 . 109049147 97.73 CA... CA... PASS 3/3 7 None None None None None None None None None DPPA4|0.001219572|94.35%
View combined sample_50.variant14 3 rs534534280
dbSNP Clinvar
149051269 233.78 C CT... PASS 3/3 3 None None None None None None None None None TM4SF18|0.060942194|59.62%
View combined sample_50.variant14 4 rs71673486
dbSNP Clinvar
72620865 122.67 C CT... PASS 3/3 4 None None None 0.26238 0.26240 None None None None None None GC|0.070899488|57.25%
View combined sample_50.variant14 4 . 100226658 328.16 CA... CA... PASS 3/3 2 None None None None None None None None None ADH1B|0.074839204|56.32%
View combined sample_50.variant14 4 rs150487703,rs371466748,rs58783994
dbSNP Clinvar
152069406 481.83 TA... TA... PASS 3/3 34 None None None None None None None None None SH3D19|0.131705972|45.65%
View combined sample_50.variant14 4 rs766458834
dbSNP Clinvar
155295154 233.84 CA... CA... PASS 3/3 10 None None None None None None None None None DCHS2|0.027332994|70.73%
View combined sample_50.variant14 5 rs70988805
dbSNP Clinvar
40728383 319.03 C CA... PASS 3/3 5 None None None None None None None None None TTC33|0.177110064|39.41%
View combined sample_50.variant14 5 rs757352664
dbSNP Clinvar
123966143 771.08 AG... AG... PASS 3/3 34 None None None None None None None None None None
View combined sample_50.variant14 5 . 141257977 253.37 AG... AG... PASS 3/3 9 None None None None None None None None None PCDH1|0.2590564|30.82%
View combined sample_50.variant14 5 rs141819080,rs57372594
dbSNP Clinvar
141691500 405.93 G GG... PASS 3/3 32 None None None 0.77037 0.77040 None None None None None None SPRY4|0.453499581|18%
View combined sample_50.variant14 5 rs757370808
dbSNP Clinvar
142606050 37.73 GA... GA... PASS 3/3 4 None None None None None None None None None ARHGAP26|0.689373516|8.81%
View combined sample_50.variant14 6 rs771632640
dbSNP Clinvar
32489588 829.75 TC... TC... PASS 3/3 14 None None None None None None None None None HLA-DRB5|0.020830666|73.74%
View combined sample_50.variant14 6 rs74588258
dbSNP Clinvar
160199454 1432.09 TT... TA... PASS 3/3 74 None None None None None None None None None ACAT2|0.090493467|53.12%
View combined sample_50.variant14 7 rs71074666
dbSNP Clinvar
83098714 852.98 CTTT C,... PASS 3/3 10 None None None 0.00140 0.00000 None None None None None None SEMA3E|0.36164343|23.33%
View combined sample_50.variant14 7 rs200396435,rs531376380
dbSNP Clinvar
138453892 933.51 GAAA GA... PASS 3/3 37 None None None 0.09645 None None None None None None ATP6V0A4|0.084008171|54.41%
View combined sample_50.variant14 7 rs777311253
dbSNP Clinvar
150327234 781.72 CA... CA... PASS 3/3 18 None None None None None None None None None GIMAP6|0.000963002|95.71%
View combined sample_50.variant14 8 . 82754618 174.2 G GG... PASS 3/3 0 None None None None None None None None None SNX16|0.204860374|36.14%
View combined sample_50.variant14 9 . 115635917 3306.71 CTT C,... PASS 3/3 154 None None None 0.32129 None None None None None None SNX30|0.232108411|33.19%
View combined sample_50.variant14 10 rs145303948,rs58544210
dbSNP Clinvar
123270292 284.16 A AT... PASS 3/3 8 None None None 0.24581 0.24580 None None None None None None FGFR2|0.998388411|0.5%
View combined sample_50.variant14 11 rs796518666
dbSNP Clinvar
34101452 299.7 GT... GT... PASS 3/3 2 None None None None None None None None None CAPRIN1|0.636562416|10.57%
View combined sample_50.variant14 11 . 118036178 103.99 CT... C,... PASS 3/3 7 None None None None None None None None None SCN2B|0.19363982|37.45%
View combined sample_50.variant14 12 rs66915084,rs59710225
dbSNP Clinvar
39047419 1939.99 T TA... PASS 3/3 6 None None None 0.03874 0.03874 None None None None None None CPNE8|0.122381303|47.05%
View combined sample_50.variant14 12 rs11171845,rs142212258,rs386376624
dbSNP Clinvar
56826758 1965.02 A G,... PASS 3/3 59 None None None 0.39537 0.39540 None None None None None None TIMELESS|0.36130758|23.36%
View combined sample_50.variant14 12 rs763018873
dbSNP Clinvar
57496748 538.0 CT... CT... PASS 3/3 18 None None None None None None None None None STAT6|0.660002282|9.7%
View combined sample_50.variant14 12 . 80760291 69.15 TTA T,... PASS 3/3 2 None None None None None None None None None OTOGL|0.150324558|42.95%
View combined sample_50.variant14 15 . 51697574 46.09 GTTTT GT... PASS 3/3 3 None None None None None None None None None GLDN|0.083381718|54.53%
View combined sample_50.variant14 16 . 30390961 78.08 CT... CT... PASS 3/3 5 None None None None None None None None None ZNF48|0.026379714|71.15%,SEPT1|0.199779524|36.76%
View combined sample_50.variant14 16 rs71389676,rs59287517
dbSNP Clinvar
71599604 1021.04 G GC... PASS 3/3 56 None None None 0.27756 0.27760 None None None None None None TAT|0.948524499|2.29%
View combined sample_50.variant14 17 rs745938905
dbSNP Clinvar
2588916 129.02 AT... AT... PASS 3/3 3 None None None None None None None None None None
View combined sample_50.variant14 17 rs374602514
dbSNP Clinvar
14252807 252.62 G GC... PASS 3/3 46 None None None 0.72804 0.72800 None None None None None None None
View combined sample_50.variant14 17 rs770357502
dbSNP Clinvar
65720448 59.28 CTTT C,... PASS 3/3 11 None None None None None None None None None NOL11|0.149207772|43.11%
View combined sample_50.variant14 17 . 66985397 167.51 TCA T,... PASS 3/3 6 None None None None None None None None None ABCA9|0.017284198|75.69%
View combined sample_50.variant14 17 rs528182725,rs746150803,rs58333377
dbSNP Clinvar
67131029 306.36 C CT... PASS 3/3 18 None None None 0.84944 0.84940 None None None None None None ABCA6|0.006278632|84.32%
View combined sample_50.variant14 17 rs112110060,rs60453390
dbSNP Clinvar
77089873 228.46 C CC... PASS 3/3 8 None None None None None None None None None RBFOX3|0.823250139|5.23%
View combined sample_50.variant14 18 rs199932125
dbSNP Clinvar
41559193 1246.65 GT... G,... PASS 3/3 22 None None None None None None None None None None
View combined sample_50.variant14 19 rs760885537
dbSNP Clinvar
543845 264.03 GAAA GA... PASS 3/3 13 None None None None None None None None None None
View combined sample_50.variant14 19 . 6470631 102.35 GT GT... PASS 3/3 8 None None None None None None None None None DENND1C|0.016969312|75.88%
View combined sample_50.variant14 21 rs574050191
dbSNP Clinvar
18816599 152.48 CT CT... PASS 3/3 3 None None None 0.05391 0.05391 None None None None None None LINC01549|0.001582759|92.4%
View combined sample_50.variant14 22 rs768960142
dbSNP Clinvar
29313256 306.74 AA... AA... PASS 3/3 13 None None None None None None None None None ZNRF3|0.247803411|31.75%
View combined sample_50.variant14 1 . 151668937 68.86 TT... TT... PASS 3/3 3 None None None None None None None None None SNX27|0.396221602|21%
View combined sample_50.variant14 2 . 31606985 52.37 AG... AG... PASS 3/3 2 None None None None None None None None None XDH|0.142298525|44.11%