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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
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Genes at Omim

RAI1,
RAI1 Smith-Magenis syndrome, 182290 (3)

Genes at Clinical Genomics Database

RAI1,
RAI1 Smith-Magenis syndrome

Genes at HGMD

Summary

Number of Variants: 271
Number of Genes: 11

Export to: CSV

ARL14EPL

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 index31 5 rs6880759
dbSNP Clinvar
115394626 760.29 G A,T . 1/2 33 SYNONYMOUS_CODING LOW None 0.07208 0.67630 None None None None None None ARL14EPL|0.056195492|60.86%

EP400

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 index31 12 rs528214697
dbSNP Clinvar
132547093 778.19 A AC... . 1/2 50 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.37320 None None None None None None EP400|0.051215115|62.27%

FAM186A

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 index31 12 rs12317337
dbSNP Clinvar
50745863 746.29 C A,G . 1/2 55 SYNONYMOUS_CODING LOW None 0.26298 0.26300 None None None None None None FAM186A|0.00104253|95.21%

KIAA2018

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 index31 3 rs112313093,rs59601191
dbSNP Clinvar
113376110 1737.19 TT... T,... . 1/2 50 CODON_DELETION MODERATE None None None None None None None KIAA2018|0.1345024|45.17%

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 index31 4 rs72180705,rs66807249
dbSNP Clinvar
3590823 2051.19 GACAC G,GAC . 1/2 81 FRAME_SHIFT HIGH None None None None None None None LINC00955|0.001348255|93.6%

NOP9

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 index31 14 rs113258190
dbSNP Clinvar
24769849 585.19 A AG... . 1/2 30 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None NOP9|0.084378166|54.34%

OR4B1

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 index31 11 rs7130086
dbSNP Clinvar
48239182 2101.29 C A,T . 1/2 83 NON_SYNONYMOUS_CODING MODERATE None 0.02037 0.26220 0.16003 0.00 0.95 4.63 None None None None None None OR4B1|0.029098244|69.82%

POU2F1

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 index31 1 rs761841861
dbSNP Clinvar
167385324 309.19 TAAA T,TAA . 1/2 32 None None None None None None None None None POU2F1|0.805592985|5.68%

RAI1

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 index31 17 rs797045910
dbSNP Clinvar
17697093 2449.19 CC... C,... . 1/2 119 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None RAI1|0.119478135|47.54%

RALY

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 index31 20 rs10649600
dbSNP Clinvar
32664864 900.19 C CC... . 1/2 23 CODON_INSERTION MODERATE None None None None None None None RALY|0.302394222|27.46%

ZNF384

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 index31 12 rs763377921
dbSNP Clinvar
6777069 853.19 TT... T,... . 1/2 49 CODON_DELETION MODERATE None None None None None None None ZNF384|0.460554675|17.65%
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 index31 2 rs763544400,rs879062230,rs753819629,rs549070561
dbSNP Clinvar
101521173 177.19 AT ATT,A . 1/2 24 None None None 0.29490 None None None None None None NPAS2|0.187340391|38.13%
View index31 2 rs10207725
dbSNP Clinvar
101564628 1250.29 A C,G . 1/2 47 None None None 0.17812 0.17810 None None None None None None NPAS2|0.187340391|38.13%
View index31 2 rs965163
dbSNP Clinvar
160203934 1044.29 A C,T . 1/2 42 None None None 0.42232 0.54970 None None None None None None BAZ2B|0.746527819|7.18%
View index31 2 . 172373731 117.19 CTT C,CT . 1/2 18 None None None None None None None None None None
View index31 2 rs33949990
dbSNP Clinvar
217280261 307.19 GTT G,GT . 1/2 29 None None None None None None None None None SMARCAL1|0.056746397|60.75%
View index31 2 rs774948896
dbSNP Clinvar
219103313 523.19 CTTTT C,CT . 1/2 42 None None None None None None None None None ARPC2|0.76615097|6.72%
View index31 2 rs879095656
dbSNP Clinvar
219104316 700.19 ATT A,AT . 1/2 58 None None None None None None None None None ARPC2|0.76615097|6.72%
View index31 2 rs760973967,rs558351138
dbSNP Clinvar
219320233 729.19 GAAAA G,GA . 1/2 53 None None None 0.15540 None None None None None None USP37|0.382075694|21.91%
View index31 3 rs750104645
dbSNP Clinvar
7494245 826.19 TT... TT... . 1/2 17 None None None None None None None None None GRM7|0.691014727|8.74%
View index31 3 rs35822941
dbSNP Clinvar
32568145 838.19 CCA C,... . 1/2 31 None None None None None None None None None DYNC1LI1|0.32092006|26.09%
View index31 3 . 55989276 549.19 TT... T,... . 1/2 56 None None None None None None None None None ERC2|0.996551916|0.71%
View index31 3 rs772515260,rs561715725,rs569683162
dbSNP Clinvar
124951171 736.19 CTT C,CT . 1/2 44 None None None 0.21730 None None None None None None SLC12A8|0.093054272|52.59%,ZNF148|0.651025084|10.08%
View index31 3 rs113527448,rs66486380
dbSNP Clinvar
142094816 432.19 G GC... . 1/2 36 None None None 0.31470 None None None None None None XRN1|0.362544354|23.25%
View index31 3 rs761665933
dbSNP Clinvar
132153228 319.19 C CA... . 1/2 31 None None None None None None None None None DNAJC13|0.502444224|15.74%
View index31 3 rs200192843,rs571642968
dbSNP Clinvar
132221076 621.19 CTT C,CT . 1/2 41 None None None 0.36200 None None None None None None DNAJC13|0.502444224|15.74%
View index31 4 rs780738010
dbSNP Clinvar
87812446 122.19 CAAA C,CAA . 1/2 22 None None None None None None None None None C4orf36|0.004973554|85.85%
View index31 4 rs201238867,rs869103997
dbSNP Clinvar
88091020 244.19 GAA G,GA . 1/2 16 None None None 0.20947 0.20950 None None None None None None KLHL8|0.216360582|34.85%
View index31 4 rs753591649,rs559140549
dbSNP Clinvar
95561651 469.19 GTT G,GT . 1/2 37 None None None 0.06170 None None None None None None PDLIM5|0.641612713|10.4%
View index31 4 rs35610634,rs397822515
dbSNP Clinvar
120194718 1420.19 G GT... . 1/2 60 None None None 0.02296 0.95050 None None None None None None USP53|0.043357407|64.7%
View index31 4 rs533910583,rs72175071,rs57686041
dbSNP Clinvar
155718171 278.19 A AT... . 1/2 24 None None None 0.17851 0.39140 None None None None None None RBM46|0.563494548|13.22%
View index31 4 rs138612273,rs777817410,rs59019208
dbSNP Clinvar
190394938 1185.19 CA... C,... . 1/2 37 None None None None None None None None None None
View index31 5 rs753332659
dbSNP Clinvar
24511654 472.19 CA... C,CAG . 1/2 40 None None None None None None None None None CDH10|0.394538371|21.11%
View index31 5 . 112876889 466.19 ATTT AT,A . 1/2 51 None None None None None None None None None YTHDC2|0.446125013|18.36%
View index31 6 rs34735056
dbSNP Clinvar
47547070 391.19 T TA... . 1/2 33 None None None 0.17870 None None None None None None CD2AP|0.343657419|24.58%
View index31 9 . 66457192 1290.19 TA... T,... . 1/2 85 None None None None None None None None None None
View index31 6 rs67687316,rs796262335
dbSNP Clinvar
105614743 617.19 TTG T,... . 1/2 27 None None None 0.76298 0.76300 None None None None None None POPDC3|0.30772348|27.04%
View index31 6 . 108243123 569.19 AACA AA,A . 1/2 57 None None None None None None None None None SEC63|0.687731816|8.89%
View index31 6 rs761488433
dbSNP Clinvar
161523834 169.19 TAA T,TA . 1/2 30 None None None None None None None None None MAP3K4|0.062523546|59.19%
View index31 7 rs377084597,rs200858854
dbSNP Clinvar
2619363 676.19 G GT... . 1/2 53 None None None 0.66474 0.66470 None None None None None None IQCE|0.003370875|87.98%
View index31 7 rs782446123
dbSNP Clinvar
73513242 119.19 CAA C,CA . 1/2 29 None None None None None None None None None LIMK1|0.418317168|19.66%
View index31 7 rs144458193,rs755643973,rs71110824
dbSNP Clinvar
102825771 465.19 TT... TT... . 1/2 23 None None None 0.64717 0.64720 None None None None None None None
View index31 7 rs145375921,rs777907166
dbSNP Clinvar
150491995 922.19 CC... C,... . 1/2 32 None None None None None None None None None TMEM176B|0.002121797|90.68%
View index31 7 rs60437024,rs3838706
dbSNP Clinvar
151049002 775.19 A AA... . 1/2 25 None None None 0.55720 None None None None None None NUB1|0.07916652|55.36%
View index31 8 rs5741961
dbSNP Clinvar
2806920 1599.19 G GA... . 1/2 41 None None None None None None None None None CSMD1|0.119480951|47.53%
View index31 8 rs766771760,rs748638842
dbSNP Clinvar
26483998 1175.19 AA... AA... . 1/2 19 None None None None None None None None None DPYSL2|0.481859756|16.66%
View index31 8 rs57219415,rs796781662
dbSNP Clinvar
48069425 468.19 TAA T,TA . 1/2 29 None None None 0.00200 0.41450 None None None None None None None
View index31 8 rs796999808
dbSNP Clinvar
93328993 1758.19 CGAA CG... . 1/2 56 None None None None None None None None None None
View index31 9 rs758575219
dbSNP Clinvar
740769 2034.19 CT... C,CT . 1/2 92 None None None None None None None None None KANK1|0.107252286|49.74%
View index31 9 rs3842209,rs752624132
dbSNP Clinvar
17332484 484.19 ATT A,AT . 1/2 33 None None None 0.24002 0.56850 None None None None None None CNTLN|0.534626587|14.4%
View index31 9 rs878997936
dbSNP Clinvar
38414030 1670.19 TCACA T,TCA . 1/2 69 None None None None None None None None None IGFBPL1|0.012302265|79.03%
View index31 9 rs10659246,rs386415907,rs386415908,rs372600996,rs386415909,rs72317221,rs5899995
dbSNP Clinvar
115014799 334.19 G GA... . 1/2 19 None None None None None None None None None PTBP3|0.536324539|14.37%
View index31 10 rs766023149,rs761515412
dbSNP Clinvar
18828669 202.19 GTT G,GT . 1/2 49 None None None None None None None None None CACNB2|0.445418011|18.41%
View index31 10 rs200851172
dbSNP Clinvar
118310802 491.19 CAA C,CA . 1/2 40 None None None None None None None None None PNLIP|0.047092558|63.55%
View index31 10 rs147982316
dbSNP Clinvar
120905940 311.19 CGT C,... . 1/2 40 None None None None None None None None None SFXN4|0.002170967|90.51%
View index31 10 rs34120011
dbSNP Clinvar
120070843 872.19 G GA... . 1/2 32 None None None 0.19269 0.47460 None None None None None None FAM204A|0.231411463|33.26%
View index31 11 rs766583278,rs556333364,rs71059117
dbSNP Clinvar
7693853 944.19 G GC... . 1/2 47 None None None 0.33190 None None None None None None CYB5R2|0.057621137|60.52%
View index31 11 rs35556457,rs774338148,rs74537032
dbSNP Clinvar
27412782 245.19 CTTT CT,C . 1/2 27 None None None None None None None None None LGR4|0.274795395|29.54%
View index31 11 rs146740108,rs60934028
dbSNP Clinvar
32949463 500.19 A AT... . 1/2 27 None None None 0.80292 0.80290 None None None None None None QSER1|0.186112132|38.25%
View index31 11 rs76729244
dbSNP Clinvar
48386906 164.29 C G,T . 1/2 21 None None None 0.02057 0.02057 None None None None None None None
View index31 11 rs111891603
dbSNP Clinvar
49229500 1178.19 C CA... . 1/2 39 None None None 0.34784 0.34780 None None None None None None FOLH1|0.065976588|58.36%
View index31 11 rs781965260,rs35722150
dbSNP Clinvar
49883972 918.19 A AT... . 1/2 43 None None None None None None None None None None
View index31 11 rs879224769,rs772005311
dbSNP Clinvar
108195976 290.19 GTT G,GT . 1/2 20 None None None None None None None None None ATM|0.992666029|0.97%,C11orf65|0.02654042|71.1%
View index31 11 rs2282505
dbSNP Clinvar
124016366 408.29 C G,T . 1/2 20 None None None 0.11861 0.11860 None None None None None None VWA5A|0.013022691|78.5%
View index31 12 rs5796232
dbSNP Clinvar
6495635 1523.19 C CA... . 1/2 38 None None None 0.00080 0.61840 None None None None None None LTBR|0.037342618|66.67%
View index31 14 rs748135102
dbSNP Clinvar
91626761 171.19 TAAA T,TAA . 1/2 28 None None None None None None None None None C14orf159|0.005784406|84.85%
View index31 12 rs71434320,rs869222569
dbSNP Clinvar
40830599 870.19 CG... C,CGT . 1/2 38 None None None 0.69010 0.69010 None None None None None None MUC19|0.001564481|92.49%
View index31 12 rs10876088
dbSNP Clinvar
51174229 222.29 A C,G . 1/2 12 None None None 0.82468 0.82470 None None None None None None ATF1|0.419687385|19.6%
View index31 12 rs10624687,rs3057140
dbSNP Clinvar
64671412 465.19 C CT... . 1/2 19 None None None 0.76897 0.76900 None None None None None None C12orf56|0.034622904|67.57%
View index31 12 rs78542460
dbSNP Clinvar
93289284 528.19 GAA G,GA . 1/2 46 None None None None None None None None None EEA1|0.669678145|9.39%
View index31 12 rs10781636
dbSNP Clinvar
133311888 159.29 C A,G . 1/2 12 None None None 0.08646 0.08646 None None None None None None ANKLE2|0.0109485|80.11%
View index31 13 . 39618366 650.19 TT... T,TTG . 1/2 41 None None None None None None None None None NHLRC3|0.033410431|67.98%
View index31 13 rs879756201,rs11330086
dbSNP Clinvar
45973231 322.19 GA GAA,G . 1/2 44 None None None None None None None None None SLC25A30|0.10805806|49.56%
View index31 14 rs766181352,rs543135665
dbSNP Clinvar
20344373 103.19 CTTT C,CTT . 1/2 76 None None None None None None None None None None
View index31 14 rs879177122
dbSNP Clinvar
29242271 850.19 ATT A,AT . 1/2 52 None None None None None None None None None LINC01551|0.030992921|68.96%
View index31 15 rs10626628,rs530768376,rs3053160
dbSNP Clinvar
34654339 2400.19 T TT... . 1/2 89 None None None 0.38140 None None None None None None LPCAT4|0.235391317|32.86%
View index31 15 . 48749040 653.19 CGT C,... . 1/2 36 None None None None None None None None None FBN1|0.938751901|2.53%
View index31 15 . 80736696 447.19 GG... G,GGT . 1/2 26 None None None None None None None None None ARNT2|0.112367144|48.8%
View index31 16 . 4873743 246.19 CAAA CA,C . 1/2 31 None None None None None None None None None GLYR1|0.416044325|19.79%
View index31 16 rs544967135
dbSNP Clinvar
20827647 451.19 ATT A,AT . 1/2 40 None None None 0.06929 0.06929 None None None None None None ERI2|0.119712352|47.5%
View index31 16 rs201159355
dbSNP Clinvar
24921854 732.19 A AT... . 1/2 59 None None None 0.20028 None None None None None None SLC5A11|0.084007625|54.42%
View index31 16 rs757014543
dbSNP Clinvar
50345710 343.19 GCCC GC,G . 1/2 28 None None None None None None None None None ADCY7|0.080648112|55.03%
View index31 16 rs5816746
dbSNP Clinvar
51177327 1310.19 G GA... . 1/2 82 None None None 0.92392 0.92390 None None None None None None SALL1|0.807151405|5.63%
View index31 16 . 87637893 678.19 C CC... . 1/2 30 None None None None None None None None None JPH3|0.231218042|33.27%
View index31 16 rs531839022
dbSNP Clinvar
55844924 1296.19 TA TAA,T . 1/2 72 None None None 0.00859 0.01757 None None None None None None CES1|0.015845795|76.58%
View index31 16 rs545566393,rs776848329,rs60080524
dbSNP Clinvar
79619727 341.19 GAAA GA,G . 1/2 18 None None None 0.85623 0.85620 None None None None None None None
View index31 16 rs758505527
dbSNP Clinvar
89612979 1434.19 ACC A,AC . 1/2 73 None None None None None None None None None SPG7|0.052707902|61.82%
View index31 16 rs369262424
dbSNP Clinvar
89778202 374.19 G GC... . 1/2 17 None None None None None None None None None VPS9D1|0.030388743|69.22%
View index31 17 rs766707176,rs67951062,rs11385090,rs879522134
dbSNP Clinvar
13399486 1493.19 A AT... . 1/2 68 None None None 0.38580 None None None None None None HS3ST3A1|0.149000914|43.13%
View index31 17 rs768930497
dbSNP Clinvar
16723074 439.19 CT... C,CT . 1/2 35 None None None None None None None None None None
View index31 17 rs140846693
dbSNP Clinvar
31324362 2545.19 T TG... . 1/2 61 None None None None None None None None None SPACA3|0.008084963|82.56%
View index31 17 rs368775416
dbSNP Clinvar
32965285 236.19 C CA... . 1/2 18 None None None 0.48801 None None None None None None TMEM132E|0.12551241|46.56%
View index31 17 rs71155140,rs398030861
dbSNP Clinvar
39594934 3686.19 AC ACC,A . 1/2 127 None None None 0.00080 0.59660 None None None None None None KRT38|0.008684534|81.96%
View index31 17 rs377476267
dbSNP Clinvar
40359505 547.19 GCACA G,GCA . 1/2 30 None None None None None None None None None STAT5B|0.791650824|6.07%
View index31 17 rs148844034
dbSNP Clinvar
44833088 242.19 ATT A,AT . 1/2 20 None None None None None None None None None NSF|0.875216187|4.09%
View index31 18 rs777824623
dbSNP Clinvar
12680595 329.19 CAA C,CA . 1/2 42 None None None None None None None None None PSMG2|0.27005668|29.88%,CEP76|0.48698714|16.46%
View index31 18 rs534215099
dbSNP Clinvar
19119974 1385.19 GATAT G,GAT . 1/2 59 None None None 0.00439 0.04293 None None None None None None ESCO1|0.296642076|27.91%
View index31 19 rs56273613
dbSNP Clinvar
6161110 202.19 C CA... . 1/2 23 None None None 0.59066 0.59070 None None None None None None RFX2|0.09042428|53.13%,ACSBG2|0.002277408|90.23%
View index31 19 rs58302383,rs869028763,rs796929080
dbSNP Clinvar
18418596 277.19 CGGG CG,C . 1/2 18 None None None 0.84944 0.84940 None None None None None None LSM4|0.046478894|63.76%
View index31 19 rs571782215,rs878886263,rs367748545
dbSNP Clinvar
44047493 473.19 CGT CG... . 1/2 23 None None None 0.40296 0.40300 None None None None None None XRCC1|0.147793973|43.33%