PMID: 27641504

A Biobank of Breast Cancer Explants with Preserved Intra-tumor Heterogeneity to Screen Anticancer Compounds.

Cell
A Bruna, OM Rueda, W Greenwood, AS Batra, M Callari, RN Batra, K Pogrebniak, J Sandoval, JW Cassidy, A Tufegdzic-Vidakovic, SJ Sammut, L Jones, E Provenzano, R Baird, P Eirew, J Hadfield, M Eldridge, A McLaren-Douglas, A Barthorpe, H Lightfoot, MJ O'Connor, J Gray, J Cortes, J Baselga, E Marangoni, AL Welm, S Aparicio, V Serra, MJ Garnett, C Caldas
2016-09-22

2213 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
9-139848341-G-A LCN12 c.373G>A p.Asp125Asn Missense 4/6 -
9-4849515-T-C RCL1 c.936T>C p.Val312Val Synonymous 8/9 -
17-10265714-T-C MYH13 c.311A>G p.Tyr104Cys Missense 4/41 -
17-10265714-T-G MYH13 c.311A>C p.Tyr104Ser Missense 4/41 -
10-101591866-G-A ABCC2 c.3236G>A p.Arg1079Gln Missense 23/32 -
1-37947336-G-A ZC3H12A c.718G>A p.Val240Met Missense 4/6 -
6-43587991-G-A POLH c.*5697G>A - 3-UTRSNV 11/11 -
9-134016059-G-A NUP214 c.1256G>A p.Arg419Gln Missense 11/36 -
9-137642654-G-A COL5A1 c.1588G>A p.Gly530Ser Missense 13/66 -
1-93720153-G-T CCDC18 c.3324G>T p.Arg1108Ser Missense 24/28 -
8-139144914-G-A FAM135B c.4143C>T p.Ala1381Ala Synonymous 20/20 -
16-22330203-G-A POLR3E c.922G>A p.Val308Met Missense 13/21 -
1-157545384-T-C FCRL4 c.1478A>G p.Tyr493Cys Missense 12/12 -
1-157545384-T-A FCRL4 c.1478A>T p.Tyr493Phe Missense 12/12 -
19-17173563-G-C HAUS8 c.174C>G p.Thr58Thr Synonymous 4/11 -
9-138678253-G-A KCNT1 c.3388G>A p.Ala1130Thr Missense 29/31 -
7-111981015-C-T ZNF277 c.1098C>T p.Phe366Phe Synonymous 11/12 -
4-107279479-G-T GIMD1 c.515C>A p.Thr172Lys Missense 2/2 -
4-107279479-G-A GIMD1 c.515C>T p.Thr172Met Missense 2/2 -
14-57072338-C-A TMEM260 c.573C>A p.His191Gln Missense 5/16 -
17-39191013-C-T KRTAP1-3 c.61G>A p.Gly21Ser Missense 1/1 -
16-70303659-C-T AARS c.824G>A p.Gly275Asp Missense 7/21 -
17-73487533-C-T TMEM94 c.1383C>T p.Pro461Pro Synonymous 13/32 -
5-94842651-C-A TTC37 c.3079G>T p.Gly1027Cys Missense 30/43 -
5-94842651-C-T TTC37 c.3079G>A p.Gly1027Ser Missense 30/43 -
5-32000315-G-A PDZD2 c.1192G>A p.Glu398Lys Missense 5/25 -
11-2683177-C-T KCNQ1 c.1394-14C>T - IntronicSNV - 10/15
9-123782415-T-A C5 c.1345A>T p.Arg449Trp Missense 12/41 -
3-113753937-G-A CCDC191 c.653C>T p.Thr218Ile Missense 6/17 -
15-43086885-T-C TTBK2 c.937A>G p.Thr313Ala Missense 10/15 -
5-32000315-G-C PDZD2 c.1192G>C p.Glu398Gln Missense 5/25 -
1-211433420-T-A RCOR3 c.1-38T>A - 5-UTRSNV 1/11 -
1-211433420-T-C RCOR3 c.1-38T>C - 5-UTRSNV 1/11 -
2-43452502-G-C ZFP36L2 c.441C>G p.Ser147Ser Synonymous 2/2 -
1-223283881-T-C TLR5 c.2493A>G p.Lys831Lys Synonymous 6/6 -
9-129870510-G-A ANGPTL2 c.501C>T p.Ala167Ala Synonymous 2/5 -
1-220162004-C-A EPRS c.2703G>T p.Ala901Ala Synonymous 19/32 -
10-118231328-A-G PNLIPRP3 c.1109A>G p.Gln370Arg Missense 10/12 -
20-35852309-G-A RPN2 c.1121G>A p.Gly374Asp Missense 10/17 -
1-228467711-G-A OBSCN c.7586G>A p.Arg2529Gln Missense 28/81 -
6-76602282-G-A MYO6 c.2982G>A p.Glu994Glu Synonymous 28/35 -
7-87060844-C-T ABCB4 c.1769G>A p.Arg590Gln Missense 15/28 -
9-116856199-C-A KIF12 c.953G>T p.Arg318Leu Missense 11/16 -
1-100340782-G-T AGL c.1155G>T p.Lys385Asn Missense 9/34 -
5-55202007-T-C IL31RA c.1143T>C p.Ala381Ala Synonymous 9/15 -
9-102677589-T-C STX17 c.68T>C p.Ile23Thr Missense 2/8 -
5-140784895-C-T PCDHGB4 c.2397+15047C>T - IntronicSNV - 1/3
18-5396324-G-T EPB41L3 c.2849C>A p.Thr950Lys Missense 19/23 -
9-2039593-G-T SMARCA2 c.483G>T p.Pro161Pro Synonymous 4/34 -
18-5396324-G-A EPB41L3 c.2849C>T p.Thr950Met Missense 19/23 -
9-34311195-G-C KIF24 c.150C>G p.Asp50Glu Missense 2/13 -
14-50750699-A-C L2HGDH c.593T>G p.Val198Gly Missense 5/10 -
9-105767702-T-C CYLC2 c.789T>C p.Asp263Asp Synonymous 5/8 -
7-23235483-A-T NUPL2 c.471A>T p.Glu157Asp Missense 4/7 -
7-23235483-A-G NUPL2 c.471A>G p.Glu157Glu Synonymous 4/7 -
21-30331935-G-A LTN1 c.2438C>T - missense_variant 13/30 -
5-153381873-T-A FAM114A2 c.1194A>T p.Ala398Ala Synonymous 11/14 -
5-153381873-T-C FAM114A2 c.1194A>G p.Ala398Ala Synonymous 11/14 -
X-128695228-G-A OCRL c.897G>A p.Met299Ile Missense 10/24 -
X-101909785-C-G ARMCX5-GPRASP2 c.-480+49204C>G - intron_variant - 4/6
10-7214505-C-A SFMBT2 c.2103G>T p.Gln701His Missense 18/21 -
22-18566288-C-G PEX26 c.457C>G p.Leu153Val Missense 4/6 -
2-27803810-C-T C2orf16 c.4371C>T p.Pro1457Pro Synonymous 1/1 -
18-9122611-T-C NDUFV2 c.401T>C p.Val134Ala Missense 5/8 -
7-151372609-G-A PRKAG2 c.581C>T p.Ser194Leu Missense 4/16 -
14-94044265-G-C UNC79 c.1758G>C p.Pro586Pro Synonymous 18/50 -
2-32530647-A-G YIPF4 c.687A>G p.Pro229Pro Synonymous 6/6 -
21-47819560-T-C PCNT c.4641T>C p.Ala1547Ala Synonymous 25/47 -
16-76482747-C-G CNTNAP4 c.823C>G - missense_variant 7/25 -
X-118239017-C-G KIAA1210 c.1006G>C p.Asp336His Missense 7/14 -
3-113383221-A-G USF3 c.195T>C p.Tyr65Tyr Synonymous 6/7 -
9-33255100-T-C BAG1 c.*117A>G - 3-UTRSNV 7/7 -
13-32760476-C-A FRY c.3399C>A p.Pro1133Pro Synonymous 27/61 -
11-19955194-G-C NAV2 c.1404G>C p.Gln468His Missense 7/38 -
18-13092424-G-A CEP192 c.6152G>A p.Ser2051Asn Missense 34/45 -
1-231487133-G-A SPRTN c.534G>A p.Pro178Pro Synonymous 4/5 -
5-150726875-C-T SLC36A2 c.147G>A p.Lys49Lys Synonymous 1/10 -
2-215815807-C-A ABCA12 c.6648G>T p.Arg2216Ser Missense 45/53 -
20-43837144-T-C SEMG1 c.1206T>C p.Asn402Asn Synonymous 2/3 -
X-117731469-A-G DOCK11 c.2339A>G p.Asn780Ser Missense 21/53 -
X-130415725-C-G IGSF1 c.1440G>C p.Gly480Gly Synonymous 8/20 -
7-128480123-C-A FLNC c.1458C>A p.Pro486Pro Synonymous 9/47 -
12-52967117-C-T KRT74 c.445G>A p.Asp149Asn Missense 1/9 -
1-37307457-T-C GRIK3 c.1410A>G p.Leu470Leu Synonymous 10/16 -
15-56736767-G-A MNS1 c.561C>T p.Tyr187Tyr Synonymous 5/10 -
12-124090655-C-T DDX55 c.195C>T p.Ile65Ile Synonymous 3/14 -
7-134849530-T-C TMEM140 c.337T>C p.Trp113Arg Missense 2/2 -
6-110768128-G-A SLC22A16 c.599C>T p.Ala200Val Missense 3/8 -
3-159713243-C-A IL12A c.659C>A p.Pro220Gln Missense 7/7 -
18-13100451-A-G CEP192 c.6811A>G p.Lys2271Glu Missense 38/45 -
9-105767869-C-A CYLC2 c.956C>A p.Ala319Glu Missense 5/8 -
2-6990069-C-G CMPK2 c.1262G>C p.Gly421Ala Missense 5/5 -
13-23928671-C-T SACS c.2080G>A p.Ala694Thr Missense 8/10 -
1-244528053-G-C C1orf100 c.51G>C p.Pro17Pro Synonymous 2/5 -
11-17552707-C-A USH1C c.381G>T p.Gly127Gly Synonymous 4/21 -
14-90429666-T-A TDP1 c.208T>A p.Ser70Thr Missense 3/17 -
12-86198594-A-G RASSF9 c.1194T>C p.Thr398Thr Synonymous 2/2 -
5-73153552-G-A ARHGEF28 c.1862G>A p.Arg621Gln Missense 15/37 -
5-73153552-G-T ARHGEF28 c.1862G>T p.Arg621Leu Missense 15/37 -
8-68396044-C-A CPA6 c.797G>T p.Arg266Leu Missense 8/11 -
7-64864574-A-G ZNF92 c.1547A>G p.Asn516Ser Missense 4/4 -
4-141320021-C-T CLGN c.868G>A p.Val290Ile Missense 8/15 -
6-25600827-T-C CARMIL1 c.3405T>C p.Ser1135Ser Synonymous 33/37 -
14-70037683-C-A CCDC177 c.*533G>T - 3-UTRSNV 2/2 -
10-96824658-C-T CYP2C8 c.541G>A p.Val181Ile Missense 4/9 -
11-1093365-T-C MUC2 c.12600T>C - synonymous_variant 32/51 -
14-70037683-C-T CCDC177 c.*533G>A - 3-UTRSNV 2/2 -
2-192922499-G-A TMEFF2 c.442C>T p.His148Tyr Missense 5/10 -
2-64780144-A-T AFTPH c.1536A>T p.Gln512His Missense 2/9 -
8-139749799-G-T COL22A1 c.2107C>A p.Pro703Thr Missense 23/65 -
21-33726326-G-A URB1 c.2332C>T p.Leu778Leu Synonymous 18/39 -
9-133954548-C-T LAMC3 c.3790C>T p.Arg1264Trp Missense 23/28 -
2-168107035-A-G XIRP2 c.9133A>G p.Lys3045Glu Missense 9/11 -
3-184049385-C-T EIF4G1 c.4389C>T p.Asp1463Asp Synonymous 29/32 -
2-69650730-G-A NFU1 c.214C>T p.Arg72Cys Missense 3/8 -
12-121613229-G-A P2RX7 c.920G>A p.Arg307Gln Missense 9/13 -
15-102359203-G-A OR4F15 c.814G>A p.Ala272Thr Missense 1/1 -
17-45425287-C-T EFCAB13 c.631C>T p.Arg211* Nonsense 9/25 -
14-45636328-A-G FANCM c.1964A>G p.Asn655Ser Missense 11/23 -
17-17125868-T-A FLCN c.726A>T p.Thr242Thr Synonymous 7/8 -
19-9452308-G-C ZNF559-ZNF177 c.-391+3050G>C - intron_variant - 3/11
20-44141411-C-T SPINT3 c.150G>A p.Thr50Thr Synonymous 2/2 -
21-43411610-G-A ZBTB21 c.2595C>T p.Pro865Pro Synonymous 2/2 -
17-2232669-C-T TSR1 c.1871G>A p.Arg624Gln Missense 11/15 -
17-18259294-A-C SHMT1 c.2T>G p.Met1Arg Missense 2/12 -
10-43620335-C-T RET c.2944C>T p.Arg982Cys Missense 18/20 -
8-101011612-G-A RGS22 c.2827C>T p.His943Tyr Missense 19/28 -
17-12862179-G-A ARHGAP44 c.1488G>A p.Thr496Thr Synonymous 16/21 -
1-182787975-G-C NPL c.634G>C p.Ala212Pro Missense 10/13 -
1-223949314-G-A CAPN2 c.1561G>A p.Glu521Lys Missense 13/21 -
1-223949314-G-C CAPN2 c.1561G>C p.Glu521Gln Missense 13/21 -
9-4118540-C-G GLIS3 c.473G>C p.Gly158Ala Missense 3/10 -
10-7621895-G-T ITIH5 c.1241C>A p.Thr414Lys Missense 9/15 -
10-7621895-G-A ITIH5 c.1241C>T p.Thr414Met Missense 9/15 -
12-65640071-G-C LEMD3 c.2699G>C p.Arg900Pro Missense 13/13 -
11-18309464-G-A HPS5 c.2537C>T p.Pro846Leu Missense 17/23 -
12-65640071-G-A LEMD3 c.2699G>A p.Arg900Gln Missense 13/13 -
3-169513320-A-T LRRC34 c.1048T>A p.Ser350Thr Missense 9/10 -
3-169496800-G-A MYNN c.511G>A p.Ala171Thr Missense 3/8 -
5-140735617-G-T PCDHGA1 c.2421+22945G>T - IntronicSNV - 1/3
12-41966699-A-G PDZRN4 c.1344A>G p.Gly448Gly Synonymous 8/8 -
14-74350841-A-G PTGR2 c.1017A>G p.Gly339Gly Synonymous 10/10 -
6-106696090-G-A ATG5 c.508C>T p.Arg170Trp Missense 6/8 -
1-228476367-A-T OBSCN c.10117A>T p.Ser3373Cys Missense 38/81 -
11-1017933-A-G MUC6 c.4868T>C p.Leu1623Ser Missense 31/33 -
1-24706155-T-C STPG1 c.309A>G p.Pro103Pro Synonymous 4/8 -
6-106696090-G-T ATG5 c.508C>A p.Arg170Arg Synonymous 6/8 -
21-45945648-G-C TSPEAR c.1224C>G p.His408Gln Missense 8/12 -
5-140433211-A-T PCDHB1 c.2156A>T p.Lys719Ile Missense 1/1 -
7-48318613-A-G ABCA13 c.7822A>G p.Ile2608Val Missense 18/62 -
5-41186220-T-C C6 c.678A>G p.Thr226Thr Synonymous 6/18 -
5-41186220-T-G C6 c.678A>C p.Thr226Thr Synonymous 6/18 -
7-148311240-C-T C7orf33 c.311C>T p.Thr104Met Missense 2/3 -
15-73023725-G-A BBS4 c.791G>A p.Cys264Tyr Missense 11/16 -
10-90524335-C-T LIPN c.395C>T p.Ser132Leu Missense 3/9 -
12-100720492-A-G SCYL2 c.1602A>G p.Gln534Gln Synonymous 12/18 -
12-121855611-G-A RNF34 c.533G>A p.Arg178His Missense 4/7 -
10-17110639-T-C CUBN c.2756A>G p.His919Arg Missense 20/67 -
15-73023725-G-T BBS4 c.791G>T p.Cys264Phe Missense 11/16 -
17-79612633-T-C TSPAN10 c.652T>C p.Tyr218His Missense 2/4 -
2-99651798-G-A TSGA10 c.1509C>T p.Ser503Ser Synonymous 16/20 -
2-175431808-G-A WIPF1 c.1446C>T p.Asn482Asn Synonymous 7/8 -
2-26432662-G-T HADHA c.1072C>A p.Gln358Lys Missense 11/20 -
3-170946002-A-G TNIK c.132T>C p.His44His Synonymous 3/33 -
1-228451836-C-A OBSCN c.4605C>A p.Ala1535Ala Synonymous 16/81 -
4-89607932-G-A HERC3 c.2553G>A p.Glu851Glu Synonymous 22/26 -
2-85785667-T-C GGCX c.435A>G p.Pro145Pro Synonymous 4/15 -
1-228451836-C-G OBSCN c.4605C>G p.Ala1535Ala Synonymous 16/81 -
1-228451836-C-T OBSCN c.4605C>T p.Ala1535Ala Synonymous 16/81 -
7-100612961-G-C MUC12 c.58G>C p.Val20Leu Missense 1/12 -
12-51450211-A-T LETMD1 c.841A>T p.Thr281Ser Missense 7/9 -
20-36940314-C-T BPI c.575C>T - missense_variant 5/15 -
16-84797698-C-T USP10 c.1673C>T p.Thr558Met Missense 11/15 -
16-84797698-C-A USP10 c.1673C>A p.Thr558Lys Missense 11/15 -
16-84797698-C-G USP10 c.1673C>G p.Thr558Arg Missense 11/15 -
4-151765336-G-A LRBA c.4485C>T p.Gly1495Gly Synonymous 28/57 -
7-92027906-C-A ANKIB1 c.2913C>A p.Gly971Gly Synonymous 20/20 -
5-140810773-G-A PCDHGA12 c.447G>A p.Glu149Glu Synonymous 1/4 -
10-28224075-G-T ARMC4 c.2359C>A p.Arg787Ser Missense 16/20 -
4-5642249-C-T EVC2 c.1462G>A p.Gly488Ser Missense 10/22 -
19-39911625-G-A PLEKHG2 c.1436G>A p.Arg479His Missense 14/19 -
8-73849768-A-C KCNB2 c.2178A>C p.Ala726Ala Synonymous 3/3 -
8-73849768-A-T KCNB2 c.2178A>T p.Ala726Ala Synonymous 3/3 -
11-19955194-G-T NAV2 c.1404G>T p.Gln468His Missense 7/38 -
11-4790890-G-A OR51F1 c.279C>T - synonymous_variant 1/1 -
11-4790890-G-T OR51F1 c.279C>A - synonymous_variant 1/1 -
12-57870726-T-C ARHGAP9 c.891A>G p.Gln297Gln Synonymous 6/18 -
2-170070348-T-C LRP2 c.5859A>G p.Arg1953Arg Synonymous 36/79 -
1-33161264-C-T SYNC c.435G>A p.Arg145Arg Synonymous 2/5 -
3-121973114-C-T CASR c.78C>T p.Ala26Ala Synonymous 2/7 -
14-65241933-G-A SPTB c.4752C>T p.Asn1584Asn Synonymous 22/35 -
10-88659852-A-T BMPR1A c.499A>T p.Met167Leu Missense 7/13 -
5-32053937-C-T PDZD2 c.1848C>T p.Val616Val Synonymous 10/25 -
1-213046088-G-A FLVCR1 c.952G>A p.Glu318Lys Missense 3/10 -
1-247615098-T-C OR2B11 c.187A>G p.Met63Val Missense 1/1 -
10-21104613-T-C NEBL c.2182A>G p.Thr728Ala Missense 22/28 -
5-131676322-C-A SLC22A4 c.1509C>A p.Leu503Leu Synonymous 9/10 -
2-210968966-T-C KANSL1L c.1290A>G p.Gln430Gln Synonymous 4/15 -
7-12683807-C-G SCIN c.885C>G p.Val295Val Synonymous 10/14 -
3-170732471-C-T SLC2A2 c.158G>A p.Arg53Gln Missense 3/11 -
12-4461695-A-C TIGAR c.651A>C p.Leu217Phe Missense 6/6 -
4-187524464-G-A FAT1 c.11216C>T p.Ala3739Val Missense 19/27 -
1-33161264-C-G SYNC c.435G>C p.Arg145Ser Missense 2/5 -
21-47575402-C-T FTCD c.36G>A p.Ser12Ser Synonymous 1/15 -
4-55575669-G-A KIT c.1195G>A p.Val399Ile Missense 7/21 -
6-143081405-G-A HIVEP2 c.6020C>T p.Thr2007Met Missense 9/10 -
2-27715558-T-C FNDC4 c.644A>G p.Gln215Arg Missense 6/7 -
4-77003212-T-C ART3 c.305T>C p.Ile102Thr Missense 3/11 -
6-36867376-C-A C6orf89 c.177C>A p.Pro59Pro Synonymous 2/8 -
11-67804000-C-A NDUFS8 c.573C>A p.Asn191Lys Missense 7/7 -
11-67804000-C-T NDUFS8 c.573C>T p.Asn191Asn Synonymous 7/7 -
6-36867376-C-T C6orf89 c.177C>T p.Pro59Pro Synonymous 2/8 -
X-85211362-T-C CHM c.962A>G p.Tyr321Cys Missense 8/15 -
16-67516945-C-T AGRP c.199G>A p.Ala67Thr Missense 3/4 -
21-47771368-A-G PCNT c.1370A>G p.Glu457Gly Missense 9/47 -
3-130345381-G-A COL6A6 c.4931G>A p.Arg1644His Missense 24/36 -
1-222713534-C-G HHIPL2 c.1268G>C p.Arg423Pro Missense 4/9 -
3-145924454-C-A PLSCR4 c.213G>T p.Leu71Phe Missense 4/9 -
3-130345381-G-C COL6A6 c.4931G>C p.Arg1644Pro Missense 24/36 -
15-45412435-G-A DUOXA1 c.638C>T p.Thr213Met Missense 8/11 -
14-80327852-G-T NRXN3 c.1079-154G>T - IntronicSNV - 6/6
16-23200809-C-T SCNN1G c.435C>T p.Ser145Ser Synonymous 3/13 -
17-72842224-G-A GRIN2C c.2331C>T p.Leu777Leu Synonymous 11/13 -
17-72842224-G-C GRIN2C c.2331C>G p.Leu777Leu Synonymous 11/13 -
1-160718069-A-G SLAMF7 c.141A>G p.Gln47Gln Synonymous 2/7 -
5-122725761-T-C CEP120 c.1112A>G p.Lys371Arg Missense 9/21 -
4-106650631-C-G GSTCD c.954C>G p.Leu318Leu Synonymous 5/12 -
16-47703131-T-G PHKB c.2433T>G p.Thr811Thr Synonymous 26/31 -
13-103492092-G-A BIVM c.723G>A p.Gly241Gly Synonymous 9/9 -
8-101727796-T-C PABPC1 c.537A>G p.Arg179Arg Synonymous 4/15 -
2-118577312-A-C DDX18 c.458A>C p.Lys153Thr Missense 3/14 -
19-37681014-G-A ZNF585B c.111C>T p.Ser37Ser Synonymous 3/5 -
1-228290033-T-C C1orf35 c.425A>G p.Lys142Arg Missense 5/8 -
1-228290033-T-G C1orf35 c.425A>C p.Lys142Thr Missense 5/8 -
5-7867027-A-G FASTKD3 c.1170T>C p.Asn390Asn Synonymous 2/7 -
5-66448622-C-T MAST4 c.3453C>T p.Tyr1151Tyr Synonymous 25/29 -
10-17659149-C-G HACD1 c.190G>C p.Glu64Gln Missense 1/7 -
10-17659149-C-T HACD1 c.190G>A p.Glu64Lys Missense 1/7 -
16-25258269-G-A ZKSCAN2 c.1248C>T p.Cys416Cys Synonymous 5/7 -
20-43836872-A-C SEMG1 c.934A>C p.Ser312Arg Missense 2/3 -
13-52508979-C-T ATP7B c.4311G>A p.Lys1437Lys Synonymous 21/21 -
19-8430886-G-A ANGPTL4 c.367G>A p.Val123Met Missense 2/7 -
1-235918870-T-A LYST c.7137A>T p.Leu2379Leu Synonymous 25/53 -
10-104359297-G-C SUFU c.1018G>C p.Ala340Pro Missense 8/12 -
1-192780268-T-C RGS2 c.432T>C p.Ala144Ala Synonymous 4/5 -
5-42718928-G-T GHR c.1319G>T p.Cys440Phe Missense 10/10 -
19-56373462-G-A NLRP4 c.2123G>A p.Arg708His Missense 5/10 -
2-179477267-T-G TTN c.42281A>C p.Asn14094Thr Missense 215/312 -
8-55539275-G-T RP1 c.2833G>T p.Val945Leu Missense 4/4 -
15-56756420-C-T MNS1 c.29G>A p.Cys10Tyr Missense 2/10 -
1-2938569-C-T ACTRT2 c.319C>T p.Leu107Leu Synonymous 1/1 -
8-55539275-G-A RP1 c.2833G>A p.Val945Ile Missense 4/4 -
4-166929102-G-T TLL1 c.819G>T p.Glu273Asp Missense 7/10 -
8-124267570-A-T ZHX1 c.617T>A p.Val206Asp Missense 3/4 -
10-55780078-C-T PCDH15 c.2625G>A p.Ser875Ser Synonymous 20/33 -
11-86662401-C-T FZD4 c.1397G>A p.Arg466Gln Missense 2/2 -
4-166929102-G-A TLL1 c.819G>A p.Glu273Glu Synonymous 7/10 -
4-17841394-G-A NCAPG c.2562G>A p.Leu854Leu Synonymous 17/21 -
11-123886717-G-A OR10G4 c.436G>A p.Gly146Ser Missense 1/1 -
1-243493888-C-T SDCCAG8 c.1115C>T p.Ala372Val Missense 10/18 -
4-17841394-G-C NCAPG c.2562G>C p.Leu854Phe Missense 17/21 -
2-43814095-G-C THADA c.349C>G p.Arg117Gly Missense 5/38 -
2-43814095-G-A THADA c.349C>T p.Arg117Cys Missense 5/38 -
13-111082772-G-T COL4A2 c.574G>T p.Val192Phe Missense 9/48 -
2-99949559-T-C TXNDC9 c.115A>G p.Met39Val Missense 2/5 -
9-105767798-C-T CYLC2 c.885C>T p.Asp295Asp Synonymous 5/8 -
5-167489170-A-G TENM2 c.1415A>G p.His472Arg Missense 8/30 -
3-112693652-A-T CD200R1 c.53T>A p.Ile18Asn Missense 1/8 -
17-49197883-C-T SPAG9 c.135G>A p.Glu45Glu Synonymous 1/29 -
3-112693652-A-G CD200R1 c.53T>C p.Ile18Thr Missense 1/8 -
3-71026809-T-C FOXP1 c.1413A>G p.Ala471Ala Synonymous 16/21 -
3-97851892-G-A OR5H1 c.351G>A p.Thr117Thr Synonymous 1/1 -
12-6948528-T-A P3H3 c.2111T>A - missense_variant 16/16 -
10-16979606-G-C CUBN c.5911C>G p.Pro1971Ala Missense 39/67 -
10-16979606-G-T CUBN c.5911C>A p.Pro1971Thr Missense 39/67 -
3-196050728-T-C TM4SF19 c.590A>G p.Asn197Ser Missense 5/5 -
18-44407993-G-A PIAS2 c.1437C>T p.Asp479Asp Synonymous 11/14 -
5-131923710-G-A RAD50 c.980G>A p.Arg327His Missense 7/25 -
11-33620408-A-G KIAA1549L c.4794A>G - synonymous_variant 13/21 -
20-35796576-G-C MROH8 c.597C>G p.Asn199Lys Missense 5/25 -
1-109492478-T-C CLCC1 c.195A>G p.Ser65Ser Synonymous 3/12 -
20-35796576-G-T MROH8 c.597C>A p.Asn199Lys Missense 5/25 -
20-32856838-C-G ASIP c.264C>G p.Pro88Pro Synonymous 3/3 -
20-32856838-C-T ASIP c.264C>T p.Pro88Pro Synonymous 3/3 -
9-137591855-G-T COL5A1 c.378G>T p.Gln126His Missense 3/66 -
22-41605776-G-A L3MBTL2 c.101G>A p.Arg34Gln Missense 2/17 -
22-41605776-G-C L3MBTL2 c.101G>C p.Arg34Pro Missense 2/17 -
2-210559417-G-A MAP2 c.455-5584G>A - IntronicSNV - 7/14
4-96091414-C-T UNC5C c.2521G>A p.Ala841Thr Missense 15/16 -
19-57088558-A-G ZNF470 c.761A>G p.Lys254Arg Missense 6/6 -
16-56906626-C-T SLC12A3 c.1023C>T p.Phe341Phe Synonymous 8/26 -
1-167096982-A-G DUSP27 c.2614A>G p.Lys872Glu Missense 6/6 -
19-52497745-T-C ZNF615 c.584A>G p.Gln195Arg Missense 6/6 -
3-113115543-C-T CFAP44 c.1601G>A p.Gly534Glu Missense 14/21 -
19-7998386-G-T TIMM44 c.753C>A p.Asn251Lys Missense 7/13 -
7-95157533-G-A ASB4 c.896G>A p.Arg299His Missense 3/5 -
3-113115543-C-G CFAP44 c.1601G>C p.Gly534Ala Missense 14/21 -
7-95157533-G-T ASB4 c.896G>T p.Arg299Leu Missense 3/5 -
2-238287288-C-T COL6A3 c.2488G>A p.Ala830Thr Missense 6/44 -
5-115822489-G-A SEMA6A c.918C>T p.Asn306Asn Synonymous 10/19 -
12-112590278-C-T TRAFD1 c.1667C>T p.Ala556Val Missense 11/12 -
15-99798405-C-T LRRC28 c.168+2075C>T - IntronicSNV - 2/9
12-113382355-G-A OAS3 c.535G>A p.Glu179Lys Missense 3/16 -
10-45878050-G-A ALOX5 c.270G>A p.Thr90Thr Synonymous 2/14 -
12-113382355-G-C OAS3 c.535G>C p.Glu179Gln Missense 3/16 -
16-74706385-G-A MLKL c.*17C>T - 3-UTRSNV 11/11 -
1-86920913-G-A CLCA2 c.2535G>A p.Thr845Thr Synonymous 14/14 -
7-87060844-C-G ABCB4 c.1769G>C p.Arg590Pro Missense 15/28 -
1-86920913-G-C CLCA2 c.2535G>C p.Thr845Thr Synonymous 14/14 -
7-56087364-G-T PSPH c.204C>A p.Leu68Leu Synonymous 5/8 -
10-90524335-C-G LIPN c.395C>G p.Ser132* Nonsense 3/9 -
17-60043929-T-C MED13 c.4275A>G p.Lys1425Lys Synonymous 19/30 -
3-18391052-T-C SATB1 c.1902A>G p.Pro634Pro Synonymous 11/11 -
3-48414274-C-T FBXW12 c.17C>T p.Pro6Leu Missense 2/11 -
4-152203451-C-T PRSS48 c.367C>T p.Gln123* Nonsense 3/5 -
10-25313348-A-G THNSL1 c.1196A>G p.Gln399Arg Missense 3/3 -
4-152203451-C-G PRSS48 c.367C>G p.Gln123Glu Missense 3/5 -
3-186508022-G-A RFC4 c.905C>T p.Ala302Val Missense 10/11 -
3-138037006-G-T NME9 c.185C>A p.Thr62Asn Missense 6/12 -
4-66231686-C-T EPHA5 c.2014G>A p.Ala672Thr Missense 11/18 -
2-186673264-A-G FSIP2 c.19498A>G p.Asn6500Asp Missense 17/23 -
4-152637228-C-T GATB c.696G>A p.Ala232Ala Synonymous 5/13 -
7-151882657-T-G KMT2C c.5068A>C p.Arg1690Arg Synonymous 34/59 -
9-107331727-C-T OR13C8 c.279C>T p.Ser93Ser Synonymous 1/1 -
1-201044681-C-T CACNA1S c.1890G>A p.Pro630Pro Synonymous 13/44 -
12-125397337-A-G UBC c.981T>C p.Ile327Ile Synonymous 2/2 -
11-74547498-C-T RNF169 c.1850C>T p.Ser617Phe Missense 6/6 -
17-63554307-A-G AXIN2 c.432T>C p.Ile144Ile Synonymous 2/11 -
19-39669105-G-T PAK4 c.1662G>T p.Val554Val Synonymous 11/11 -
6-167570528-C-T GPR31 c.792G>A p.Ser264Ser Synonymous 1/1 -
2-172341453-G-A DCAF17 c.*3829G>A - 3-UTRSNV 14/14 -
11-64666182-C-A ATG2A c.4597G>T p.Ala1533Ser Missense 32/41 -
11-64666182-C-G ATG2A c.4597G>C p.Ala1533Pro Missense 32/41 -
19-5749171-A-G CATSPERD c.964A>G p.Ile322Val Missense 11/22 -
X-70073159-T-C TEX11 c.389A>G p.Lys130Arg Missense 7/31 -
22-38155497-A-G TRIOBP c.6324+226A>G - IntronicSNV - 17/23
2-172341453-G-C DCAF17 c.*3829G>C - 3-UTRSNV 14/14 -
13-73333935-A-G DIS3 c.2875T>C - Missense 21/21 -
9-130587560-G-T ENG c.766C>A p.Pro256Thr Missense 6/14 -
2-168115769-G-T XIRP2 c.*1442G>T - 3_prime_UTR_variant 11/11 -
4-146650323-A-G C4orf51 c.369A>G p.Ala123Ala Synonymous 4/6 -
2-168115769-G-C XIRP2 c.*1442G>C - 3_prime_UTR_variant 11/11 -
19-9267302-G-A ZNF317 c.40G>A p.Asp14Asn Missense 3/7 -
20-32856838-C-A ASIP c.264C>A p.Pro88Pro Synonymous 3/3 -
2-233712109-A-G GIGYF2 c.3512A>G p.His1171Arg Missense 27/29 -
5-147204192-G-A SPINK1 c.*32C>T - 3-UTRSNV 5/5 -
2-233712109-A-T GIGYF2 c.3512A>T p.His1171Leu Missense 27/29 -
7-103292201-G-A RELN c.1799C>T p.Ser600Phe Missense 15/65 -
17-73559441-C-T LLGL2 c.723C>T p.Asp241Asp Synonymous 8/25 -
10-96025697-G-T PLCE1 c.4263G>T p.Ser1421Ser Synonymous 16/33 -
10-97371146-G-A ALDH18A1 c.1977C>T p.Ser659Ser Synonymous 16/18 -
9-19786015-C-A SLC24A2 c.850G>T p.Val284Phe Missense 1/10 -
2-152398045-G-C NEB c.15495C>G p.Gly5165Gly Synonymous 109/150 -
7-128446398-C-T CCDC136 c.1197C>T p.Leu399Leu Synonymous 8/18 -
10-96025697-G-A PLCE1 c.4263G>A p.Ser1421Ser Synonymous 16/33 -
5-176863227-T-G GRK6 c.1211T>G p.Val404Gly Missense 12/16 -
19-36211359-A-G KMT2B c.1110A>G p.Glu370Glu Synonymous 3/37 -
4-15989304-G-A PROM1 c.2112C>T p.Arg704Arg Synonymous 20/28 -
2-168115710-T-C XIRP2 c.*1383T>C - 3_prime_UTR_variant 11/11 -
1-31347320-G-A SDC3 c.986C>T p.Thr329Ile Missense 4/5 -
8-114186071-C-T CSMD3 c.589G>A p.Gly197Arg Missense 4/69 -
11-92086828-T-C FAT3 c.1550T>C p.Leu517Ser Missense 1/25 -
3-4358209-G-A SETMAR c.1334G>A p.Arg445Gln Missense 3/3 -
11-61722627-G-C BEST1 c.201G>C p.Leu67Leu Synonymous 3/11 -
1-41289826-C-T KCNQ4 c.1188C>T p.Pro396Pro Synonymous 9/14 -
11-64666182-C-T ATG2A c.4597G>A p.Ala1533Thr Missense 32/41 -
1-154918654-C-T PBXIP1 c.1496G>A p.Arg499Gln Missense 10/11 -
1-192613475-G-T RGS13 c.11G>T p.Arg4Leu Missense 4/7 -
2-179498303-T-C TTN c.35079A>G p.Lys11693Lys Synonymous 181/312 -
2-179498303-T-A TTN c.35079A>T p.Lys11693Asn Missense 181/312 -
1-192613475-G-A RGS13 c.11G>A p.Arg4Gln Missense 4/7 -
14-75515693-C-T MLH3 c.666G>A p.Lys222Lys Synonymous 2/12 -
4-47408896-G-A GABRB1 c.1033G>A p.Asp345Asn Missense 8/9 -
14-75515693-C-G MLH3 c.666G>C p.Lys222Asn Missense 2/12 -
2-179407152-C-G TTN c.89627G>C p.Arg29876Pro Missense 298/312 -
8-113326269-T-C CSMD3 c.7250A>G p.Gln2417Arg Missense 48/69 -
5-13844951-C-T DNAH5 c.5266G>A p.Glu1756Lys Missense 32/79 -
1-207110888-G-A PIGR c.597C>T p.Gly199Gly Synonymous 4/11 -
1-212560300-A-G TMEM206 c.276T>C p.Phe92Phe Synonymous 3/8 -
16-53682940-C-T RPGRIP1L c.2240G>A p.Arg747Gln Missense 16/27 -
7-113519485-C-G PPP1R3A c.1662G>C p.Gly554Gly Synonymous 4/4 -
1-220298664-A-G IARS2 c.1726A>G p.Lys576Glu Missense 13/23 -
9-13168408-G-A MPDZ c.3211C>T p.Arg1071* Nonsense 22/46 -
3-132277907-G-A ACAD11 c.2251C>T p.Arg751Cys Missense 20/20 -
9-19380205-T-C RPS6 c.1-12A>G - 5-UTRSNV 1/6 -
3-156763438-A-C LEKR1 c.1978A>C p.Ile660Leu Missense 13/13 -
11-1027174-G-A MUC6 c.2251C>T p.Leu751Leu Synonymous 18/33 -
2-64335394-A-G PELI1 c.51T>C p.Tyr17Tyr Synonymous 2/7 -
2-27429808-G-A SLC5A6 c.396C>T p.Tyr132Tyr Synonymous 4/17 -
14-71137844-G-T TTC9 c.641G>T p.Cys214Phe Missense 3/3 -
7-20201444-A-C MACC1 c.42T>G p.Ile14Met Missense 4/7 -
12-19427764-T-C PLEKHA5 c.1142T>C p.Val381Ala Missense 10/26 -
11-1016654-T-G MUC6 c.6147A>C p.Pro2049Pro Synonymous 31/33 -
7-87160645-G-A ABCB1 c.2650C>T p.Leu884Leu Synonymous 22/29 -
13-115090136-T-C CHAMP1 c.819T>C p.Thr273Thr Synonymous 3/3 -
8-105502999-G-A LRP12 c.2482C>T p.Arg828Cys Missense 7/7 -
20-45131618-A-G ZNF334 c.357T>C p.Leu119Leu Synonymous 6/6 -
21-37418174-C-T SETD4 c.432G>A p.Glu144Glu Synonymous 6/12 -
4-156832715-A-C TDO2 c.685A>C p.Asn229His Missense 7/12 -
5-7892933-A-G MTRR c.1464A>G p.Val488Val Synonymous 11/15 -
7-27140497-C-T HOXA2 c.979G>A p.Val327Ile Missense 2/2 -
7-27140497-C-A HOXA2 c.979G>T p.Val327Phe Missense 2/2 -
6-34791089-A-G UHRF1BP1 c.302A>G p.Asn101Ser Missense 4/21 -
X-119760581-C-T C1GALT1C1 c.441G>A p.Thr147Thr Synonymous 3/3 -
17-80045047-G-C FASN c.3306C>G p.Ala1102Ala Synonymous 21/43 -
17-72436370-G-A GPRC5C c.455G>A - missense_variant 2/4 -
1-183101625-G-A LAMC1 c.3657G>A p.Leu1219Leu Synonymous 21/28 -
10-70968505-C-G SUPV3L1 c.2075C>G p.Pro692Arg Missense 15/15 -
10-70968505-C-T SUPV3L1 c.2075C>T p.Pro692Leu Missense 15/15 -
6-39507889-C-A KIF6 c.1535G>T p.Arg512Leu Missense 13/23 -
10-70968505-C-A SUPV3L1 c.2075C>A p.Pro692Gln Missense 15/15 -
19-5733908-G-A CATSPERD c.318G>A p.Ser106Ser Synonymous 5/22 -
19-5733908-G-C CATSPERD c.318G>C p.Ser106Ser Synonymous 5/22 -
6-121452897-G-T TBC1D32 c.2775C>A p.Asp925Glu Missense 25/32 -
X-134711265-A-T INTS6L c.1921A>T p.Thr641Ser Missense 14/17 -
1-8030994-G-A PARK7 c.293G>A p.Arg98Gln Missense 5/7 -
12-7647768-G-C CD163 c.1329C>G p.Asn443Lys Missense 6/17 -
12-7647768-G-A CD163 c.1329C>T p.Asn443Asn Synonymous 6/17 -
15-77233976-A-G RCN2 c.448-2123A>G - IntronicSNV - 3/6
2-47643457-G-A MSH2 c.965G>A p.Gly322Asp Missense 6/16 -
10-123258034-A-C FGFR2 c.1647T>G p.Asn549Lys Missense 12/18 -
5-38925370-C-T OSMR c.2109C>T p.Asn703Asn Synonymous 15/18 -
2-47643457-G-T MSH2 c.965G>T p.Gly322Val Missense 6/16 -
3-184049090-G-T EIF4G1 c.4201G>T p.Gly1401Trp Missense 28/32 -
3-184049090-G-A EIF4G1 c.4201G>A p.Gly1401Arg Missense 28/32 -
10-50678820-A-G ERCC6 c.3186T>C p.Ser1062Ser Synonymous 18/21 -
8-62370916-T-G CLVS1 c.792T>G p.Pro264Pro Synonymous 5/6 -
12-15669722-G-T PTPRO c.1611G>T p.Met537Ile Missense 9/26 -
1-175049405-C-A TNN c.891C>A p.Pro297Pro Synonymous 4/19 -
X-44171875-C-T EFHC2 c.170G>A p.Cys57Tyr Missense 2/15 -
9-140052874-G-A GRIN1 c.1012G>A p.Val338Met Missense 7/20 -
6-44197456-A-G SLC29A1 c.242A>G p.Asn81Ser Missense 5/14 -
17-77043894-C-T C1QTNF1 c.570C>T p.Pro190Pro Synonymous 4/4 -
6-44197456-A-C SLC29A1 c.242A>C p.Asn81Thr Missense 5/14 -
1-171073021-T-A FMO3 c.228T>A p.Asp76Glu Missense 3/9 -
2-227661214-G-C IRS1 c.2241C>G p.Ser747Ser Synonymous 1/2 -
1-171073021-T-C FMO3 c.228T>C p.Asp76Asp Synonymous 3/9 -
5-89953849-C-A ADGRV1 c.4506C>A p.Pro1502Pro Synonymous 21/90 -
5-89953849-C-T ADGRV1 c.4506C>T p.Pro1502Pro Synonymous 21/90 -
13-28623587-C-T FLT3 c.970G>A p.Asp324Asn Missense 8/24 -
13-79932548-T-C RBM26 c.1550A>G p.Asn517Ser Missense 11/21 -
8-105263928-C-T RIMS2 c.3930C>T p.Ile1310Ile Synonymous 24/24 -
5-36677083-G-C SLC1A3 c.657G>C p.Glu219Asp Missense 6/10 -
11-126147035-T-G FOXRED1 c.1171T>G p.Leu391Val Missense 10/11 -
19-16593359-C-T CALR3 c.820G>A p.Val274Ile Missense 7/9 -
12-53091556-C-A KRT77 c.668G>T p.Arg223Leu Missense 2/9 -
9-136219594-G-A SURF1 c.543C>T p.Phe181Phe Synonymous 6/9 -
11-20483650-T-C PRMT3 c.1197T>C p.Ile399Ile Synonymous 12/16 -
10-48371220-T-C ZNF488 c.688T>C p.Cys230Arg Missense 2/2 -
1-201288982-C-T PKP1 c.1271C>T p.Pro424Leu Missense 7/15 -
4-106650631-C-T GSTCD c.954C>T p.Leu318Leu Synonymous 5/12 -
1-12064892-G-A MFN2 c.1403G>A p.Arg468His Missense 14/19 -
2-27587724-G-A EIF2B4 c.1233C>T p.Asn411Asn Synonymous 12/13 -
17-10223697-G-T MYH13 c.3228C>A p.Asp1076Glu Missense 25/41 -
9-128692068-C-T PBX3 c.426C>T p.Leu142Leu Synonymous 4/9 -
11-120350819-A-G ARHGEF12 c.3917A>G p.Tyr1306Cys Missense 38/41 -
3-182583338-T-A ATP11B c.1295T>A p.Ile432Asn Missense 13/30 -
8-67680091-G-A SGK3 c.1-25881G>A - IntronicSNV - 1/16
10-27508746-G-A ACBD5 c.531C>T p.Thr177Thr Synonymous 6/13 -
17-12862179-G-T ARHGAP44 c.1488G>T p.Thr496Thr Synonymous 16/21 -
1-228481897-A-C OBSCN c.11176A>C p.Thr3726Pro Missense 42/81 -
12-7053321-G-A C12orf57 c.37G>A p.Ala13Thr Missense 1/3 -
2-10747392-T-A NOL10 c.1072A>T p.Thr358Ser Missense 14/21 -
13-108863332-C-T LIG4 c.285G>A p.Glu95Glu Synonymous 2/2 -
7-139734069-C-A PARP12 c.1387G>T p.Val463Leu Missense 8/12 -
16-89603235-G-A SPG7 c.1324+4191G>A - IntronicSNV - 9/16
12-70049118-T-A BEST3 c.937A>T p.Ile313Phe Missense 6/6 -
12-70049118-T-C BEST3 c.937A>G p.Ile313Val Missense 6/6 -
12-44194265-A-G TWF1 c.351T>C p.Ile117Ile Synonymous 4/9 -
19-19339337-G-A NCAN c.2908G>A p.Glu970Lys Missense 8/15 -
16-89238215-C-T CDH15 c.1-25C>T - 5-UTRSNV 1/14 -
4-106157698-T-C TET2 c.2599T>C p.Tyr867His Missense 3/3 -
6-34791089-A-T UHRF1BP1 c.302A>T p.Asn101Ile Missense 4/21 -
16-66975712-G-T CES2 c.1098G>T - missense_variant 8/12 -
16-21261685-C-T ANKS4B c.798C>T p.Leu266Leu Synonymous 2/2 -
10-88659852-A-G BMPR1A c.499A>G p.Met167Val Missense 7/13 -
16-21261685-C-G ANKS4B c.798C>G p.Leu266Leu Synonymous 2/2 -
4-146651099-G-A C4orf51 c.483G>A p.Gly161Gly Synonymous 5/6 -
9-125133340-G-A PTGS1 c.1-24G>A - 5-UTRSNV 1/11 -
19-5924893-G-A RANBP3 c.941C>T p.Ala314Val Missense 11/17 -
1-207106444-A-G PIGR c.1773T>C p.Phe591Phe Synonymous 7/11 -
14-105404593-G-A AHNAK2 c.17195C>T p.Thr5732Met Missense 7/7 -
5-34863034-A-G TTC23L c.411A>G p.Thr137Thr Synonymous 5/11 -
3-130174433-A-G COL6A5 c.6713A>G p.Gln2238Arg Missense 37/40 -
7-113517888-T-C PPP1R3A c.3259A>G p.Ile1087Val Missense 4/4 -
20-36940314-C-A BPI c.575C>A - missense_variant 5/15 -
12-7021957-G-A LRRC23 c.759-1098G>A - IntronicSNV - 6/6
3-151463423-G-A AADACL2 c.558G>A p.Ala186Ala Synonymous 4/5 -
20-47688957-A-G CSE1L c.903A>G p.Leu301Leu Synonymous 9/25 -
20-47587799-G-C ARFGEF2 c.1333G>C p.Val445Leu Missense 10/39 -
20-47587799-G-A ARFGEF2 c.1333G>A p.Val445Ile Missense 10/39 -
7-138921799-A-G UBN2 c.517A>G p.Arg173Gly Missense 2/18 -
2-209116182-A-C IDH1 c.94T>G p.Phe32Val Missense 3/10 -
5-76332468-G-A AGGF1 c.604G>A p.Val202Ile Missense 4/14 -
5-60241050-G-A NDUFAF2 c.1-33G>A - 5-UTRSNV 1/4 -
10-17088006-T-C CUBN c.3417A>G p.Leu1139Leu Synonymous 24/67 -
20-32883308-G-A AHCY c.112C>T p.Arg38Trp Missense 2/10 -
20-52788190-G-A CYP24A1 c.469C>T p.Arg157Trp Missense 3/12 -
1-184764351-G-T FAM129A c.2547C>A p.Asp849Glu Missense 14/14 -
1-184764351-G-A FAM129A c.2547C>T p.Asp849Asp Synonymous 14/14 -
1-184764351-G-C FAM129A c.2547C>G p.Asp849Glu Missense 14/14 -
16-335628-G-A PDIA2 c.1044G>A p.Ala348Ala Synonymous 7/11 -
2-226273749-T-G NYAP2 c.153T>G p.Asn51Lys Missense 2/6 -
2-73678004-A-G ALMS1 c.4347A>G p.Glu1449Glu Synonymous 8/23 -
3-133341959-T-C TOPBP1 c.3154A>G p.Ser1052Gly Missense 19/28 -
1-162351752-C-G C1orf226 c.61C>G p.His21Asp Missense 1/2 -
15-44864894-C-T SPG11 c.5991G>A p.Gly1997Gly Synonymous 31/38 -
8-33230203-A-T FUT10 c.1332T>A p.Ile444Ile Synonymous 5/5 -
16-56906626-C-G SLC12A3 c.1023C>G p.Phe341Leu Missense 8/26 -
18-47788424-C-G CFAP53 c.235G>C p.Val79Leu Missense 2/8 -
19-16593359-C-G CALR3 c.820G>C p.Val274Leu Missense 7/9 -
19-4902722-A-G ARRDC5 c.116T>C - missense_variant 1/3 -
12-19427766-A-G PLEKHA5 c.1144A>G p.Ser382Gly Missense 10/26 -
7-81714123-A-C CACNA2D1 c.620T>G p.Val207Gly Missense 7/39 -
19-49254504-G-A FUT1 c.35C>T p.Ala12Val Missense 4/4 -
12-72026160-T-C ZFC3H1 c.2952A>G p.Lys984Lys Synonymous 15/35 -
20-62560701-C-G DNAJC5 c.144C>G p.Pro48Pro Synonymous 3/5 -
20-62560701-C-T DNAJC5 c.144C>T p.Pro48Pro Synonymous 3/5 -
11-59573999-C-T MRPL16 c.577G>A p.Gly193Arg Missense 4/4 -
5-34863034-A-T TTC23L c.411A>T p.Thr137Thr Synonymous 5/11 -
5-34863034-A-C TTC23L c.411A>C p.Thr137Thr Synonymous 5/11 -
3-1339584-G-T CNTN6 c.670G>T p.Glu224* Nonsense 7/23 -
2-152410513-C-T NEB c.14352G>A p.Lys4784Lys Synonymous 99/150 -
13-115090931-C-T CHAMP1 c.1614C>T p.Ala538Ala Synonymous 3/3 -
5-156671437-G-A ITK c.1398G>A p.Val466Val Synonymous 13/17 -
5-54410065-G-A CDC20B c.1529C>T p.Ser510Phe Missense 12/12 -
1-162351752-C-T C1orf226 c.61C>T p.His21Tyr Missense 1/2 -
13-96529571-T-C UGGT2 c.3435A>G p.Leu1145Leu Synonymous 29/39 -
8-96281363-G-A C8orf37 c.55C>T p.Pro19Ser Missense 1/6 -
4-88537447-T-C DSPP c.3633T>C p.Ser1211Ser Synonymous 5/5 -
16-21151980-T-C DNAH3 c.573A>G p.Val191Val Synonymous 5/62 -
3-32933261-C-T TRIM71 c.2565C>T p.Ile855Ile Synonymous 4/4 -
8-96281363-G-C C8orf37 c.55C>G p.Pro19Ala Missense 1/6 -
6-136593183-G-C BCLAF1 c.1993C>G p.His665Asp Missense 8/13 -
4-177243366-G-A SPCS3 c.189G>A p.Leu63Leu Synonymous 2/5 -
4-177243366-G-T SPCS3 c.189G>T p.Leu63Leu Synonymous 2/5 -
9-19786217-G-A SLC24A2 c.648C>T p.Ile216Ile Synonymous 1/10 -
1-152733376-C-G KPRP c.1312C>G p.Pro438Ala Missense 2/2 -
1-152733376-C-A KPRP c.1312C>A p.Pro438Thr Missense 2/2 -
11-120929151-C-G TBCEL c.810C>G p.Thr270Thr Synonymous 6/8 -
11-1017793-T-G MUC6 c.5008A>C p.Thr1670Pro Missense 31/33 -
20-55111273-C-T FAM209B c.295C>T p.Leu99Leu Synonymous 2/2 -
2-25991689-T-G ASXL2 c.553A>C p.Ser185Arg Missense 7/13 -
2-25991689-T-C ASXL2 c.553A>G p.Ser185Gly Missense 7/13 -
9-116091191-C-T WDR31 c.291G>A p.Arg97Arg Synonymous 5/11 -
1-155735901-C-T GON4L c.3363G>A p.Lys1121Lys Synonymous 21/21 -
3-151598469-C-A SUCNR1 c.138C>A p.Tyr46* Nonsense 3/3 -
18-21424986-T-C LAMA3 c.3617T>C p.Val1206Ala Missense 30/75 -
10-114053512-T-A TECTB c.500T>A p.Ile167Asn Missense 6/11 -
1-100681587-A-G DBT c.724T>C p.Ser242Pro Missense 6/11 -
6-151779697-A-C ARMT1 c.382A>C p.Ile128Leu Missense 3/5 -
6-151779697-A-G ARMT1 c.382A>G p.Ile128Val Missense 3/5 -
17-73732428-G-A ITGB4 c.1821G>A p.Ser607Ser Synonymous 15/40 -
11-64359274-C-A SLC22A12 c.246C>A p.Asn82Lys Missense 1/10 -
3-195517909-G-T MUC4 c.542C>A p.Thr181Lys Missense 2/25 -
11-128680466-C-T FLI1 c.942C>T p.Pro314Pro Synonymous 9/9 -
10-99502897-G-A ZFYVE27 c.244G>A p.Val82Ile Missense 3/13 -
16-15797835-T-C MYH11 c.*154A>G - 3_prime_UTR_variant 43/43 -
11-120929151-C-T TBCEL c.810C>T p.Thr270Thr Synonymous 6/8 -
7-2976800-C-T CARD11 c.1212G>A p.Arg404Arg Synonymous 9/25 -
21-43258138-C-T PRDM15 c.2004G>A p.Pro668Pro Synonymous 15/31 -
1-152733376-C-T KPRP c.1312C>T p.Pro438Ser Missense 2/2 -
14-23549383-G-T ACIN1 c.1335C>A p.Ala445Ala Synonymous 6/19 -
14-23549383-G-A ACIN1 c.1335C>T p.Ala445Ala Synonymous 6/19 -
14-23549383-G-C ACIN1 c.1335C>G p.Ala445Ala Synonymous 6/19 -
12-124171453-A-G TCTN2 c.635A>G p.Asn212Ser Missense 6/18 -
12-124171453-A-T TCTN2 c.635A>T p.Asn212Ile Missense 6/18 -
6-36336764-G-A ETV7 c.749C>T p.Ala250Val Missense 6/8 -
6-36336764-G-T ETV7 c.749C>A p.Ala250Asp Missense 6/8 -
11-1017522-T-G MUC6 c.5279A>C p.Glu1760Ala Missense 31/33 -
12-106461476-G-A NUAK1 c.1090C>T p.Arg364Trp Missense 7/7 -
1-115229413-C-T AMPD1 c.433G>A p.Val145Met Missense 4/16 -
2-27262667-G-A TMEM214 c.1584G>A p.Ala528Ala Synonymous 14/17 -
4-147110790-A-T LSM6 c.225A>T p.Thr75Thr Synonymous 4/4 -
3-151598469-C-T SUCNR1 c.138C>T p.Tyr46Tyr Synonymous 3/3 -
6-142758655-G-A ADGRG6 c.3320G>A p.Arg1107Gln Missense 22/25 -
19-55672055-A-G DNAAF3 c.1142T>C p.Leu381Pro Missense 9/12 -
3-195517909-G-A MUC4 c.542C>T p.Thr181Ile Missense 2/25 -
1-203144833-G-A MYBPH c.51C>T p.Thr17Thr Synonymous 1/11 -
20-20055851-G-A CFAP61 c.390G>A p.Val130Val Synonymous 5/27 -
10-101294851-G-A NKX2-3 c.468G>A p.Ser156Ser Synonymous 2/2 -
12-21242854-C-A SLCO1B7 c.1737C>A p.Phe579Leu Missense 13/13 -
12-21242854-C-T SLCO1B7 c.1737C>T p.Phe579Phe Synonymous 13/13 -
19-9025654-T-G MUC16 c.36800A>C p.Lys12267Thr Missense 15/84 -
12-72018028-A-G ZFC3H1 c.4362T>C p.Cys1454Cys Synonymous 23/35 -
7-38807169-C-G VPS41 c.1215G>C p.Leu405Leu Synonymous 15/29 -
7-38807169-C-T VPS41 c.1215G>A p.Leu405Leu Synonymous 15/29 -
2-227661214-G-A IRS1 c.2241C>T p.Ser747Ser Synonymous 1/2 -
X-130412018-C-G IGSF1 c.2147G>C p.Gly716Ala Missense 13/20 -
X-130412018-C-A IGSF1 c.2147G>T p.Gly716Val Missense 13/20 -
10-78651430-G-A KCNMA1 c.3021C>T p.Thr1007Thr Synonymous 25/27 -
20-44515559-G-T SPATA25 c.281C>A p.Pro94Gln Missense 2/2 -
20-44515559-G-A SPATA25 c.281C>T p.Pro94Leu Missense 2/2 -
3-114014600-C-T TIGIT c.270C>T p.Gly90Gly Synonymous 2/4 -
18-48581234-C-T SMAD4 c.538C>T p.Gln180* Nonsense 5/12 -
7-115624439-C-T TFEC c.57G>A p.Val19Val Synonymous 2/8 -
10-15649710-G-A ITGA8 c.1730C>T p.Ser577Phe Missense 17/30 -
9-108363426-C-T FKTN c.166C>T p.Arg56Cys Missense 4/10 -
11-1093022-C-T MUC2 c.10325C>T - missense_variant 31/51 -
X-119048782-G-A AKAP14 c.382G>A p.Val128Ile Missense 5/7 -
17-10296261-G-T MYH8 c.5350C>A p.Arg1784Arg Synonymous 37/40 -
17-10296261-G-C MYH8 c.5350C>G p.Arg1784Gly Missense 37/40 -
17-10296261-G-A MYH8 c.5350C>T p.Arg1784Trp Missense 37/40 -
2-168104988-G-T XIRP2 c.7086G>T p.Met2362Ile Missense 9/11 -
6-83938603-A-G ME1 c.1074T>C p.His358His Synonymous 10/14 -
2-7018021-G-A RSAD2 c.90G>A p.Pro30Pro Synonymous 1/6 -
1-159043196-C-T AIM2 c.94G>A p.Glu32Lys Missense 2/6 -
1-159043196-C-A AIM2 c.94G>T p.Glu32* Nonsense 2/6 -
20-4680217-A-G PRNP c.351A>G p.Ala117Ala Synonymous 2/2 -
17-68128291-G-T KCNJ16 c.168G>T - synonymous_variant 5/5 -
20-19915769-C-T RIN2 c.231C>T p.Ile77Ile Synonymous 3/12 -
20-52790005-C-A CYP24A1 c.114G>T p.Pro38Pro Synonymous 1/12 -
1-20005661-C-A HTR6 c.1123C>A p.Pro375Thr Missense 3/3 -
17-68128291-G-C KCNJ16 c.168G>C - synonymous_variant 5/5 -
17-68128291-G-A KCNJ16 c.168G>A - synonymous_variant 5/5 -
16-239272-C-G LUC7L c.1041G>C p.Pro347Pro Synonymous 10/10 -
6-112671258-C-A RFPL4B c.348C>A p.Ser116Arg Missense 3/3 -
5-160042901-C-G ATP10B c.2597G>C p.Arg866Pro Missense 17/26 -
13-107823070-T-A FAM155A c.1152A>T p.Lys384Asn Missense 3/3 -
8-104948947-C-T RIMS2 c.2544C>T p.Gly848Gly Synonymous 13/24 -
6-139609878-G-C TXLNB c.159C>G p.Pro53Pro Synonymous 2/10 -
1-221053574-A-C HLX c.375A>C p.Gln125His Missense 1/4 -
11-1018042-A-G MUC6 c.4759T>C p.Ser1587Pro Missense 31/33 -
1-242023898-A-G EXO1 c.836A>G p.Asn279Ser Missense 7/14 -
12-9260217-G-A A2M c.782C>T p.Pro261Leu Missense 8/36 -
3-164730786-C-T SI c.4044G>A p.Thr1348Thr Synonymous 34/48 -
12-91502250-A-G LUM c.507T>C p.Asn169Asn Synonymous 2/3 -
8-134042112-G-A TG c.7083G>A p.Ala2361Ala Synonymous 41/48 -
19-38896204-T-G FAM98C c.679T>G p.Cys227Gly Missense 6/8 -
7-87746103-A-C ADAM22 c.581A>C p.Glu194Ala Missense 7/31 -
11-59210795-A-G OR5A1 c.154A>G p.Ile52Val Missense 1/1 -
11-59210795-A-T OR5A1 c.154A>T p.Ile52Phe Missense 1/1 -
19-54307322-G-A NLRP12 c.2469C>T p.Leu823Leu Synonymous 6/10 -
19-54307322-G-T NLRP12 c.2469C>A p.Leu823Leu Synonymous 6/10 -
1-242023898-A-T EXO1 c.836A>T p.Asn279Ile Missense 7/14 -
20-60971397-C-T CABLES2 c.501G>A p.Met167Ile Missense 3/10 -
2-86338249-G-A PTCD3 c.208G>A p.Val70Ile Missense 4/24 -
16-2108847-G-A TSC2 c.948G>A p.Pro316Pro Synonymous 10/42 -
10-101816863-C-G CPN1 c.918G>C p.Thr306Thr Synonymous 6/9 -
10-101816863-C-T CPN1 c.918G>A p.Thr306Thr Synonymous 6/9 -
3-133538548-A-G SRPRB c.754A>G p.Arg252Gly Missense 8/8 -
12-103237483-C-T PAH c.1140G>A p.Thr380Thr Synonymous 11/13 -
1-237758849-C-T RYR2 c.4488C>T p.Pro1496Pro Synonymous 34/105 -
12-103237483-C-A PAH c.1140G>T p.Thr380Thr Synonymous 11/13 -
3-63976489-G-A ATXN7 c.1636G>A p.Ala546Thr Missense 11/13 -
7-56087379-T-C PSPH c.189A>G p.Thr63Thr Synonymous 5/8 -
6-121452897-G-A TBC1D32 c.2775C>T p.Asp925Asp Synonymous 25/32 -
4-146467921-A-G SMAD1 c.842A>G p.Asn281Ser Missense 5/7 -
7-113518103-T-C PPP1R3A c.3044A>G p.Asn1015Ser Missense 4/4 -
10-14896193-G-A HSPA14 c.804G>A p.Ala268Ala Synonymous 9/14 -
8-145699876-G-A FOXH1 c.843C>T p.Tyr281Tyr Synonymous 3/3 -
10-14896193-G-C HSPA14 c.804G>C p.Ala268Ala Synonymous 9/14 -
17-53342920-G-A HLF c.75G>A p.Leu25Leu Synonymous 1/4 -
17-53342920-G-C HLF c.75G>C p.Leu25Leu Synonymous 1/4 -
8-101717832-G-C PABPC1 c.1672C>G p.Gln558Glu Missense 12/15 -
21-34922173-A-G SON c.636A>G p.Ala212Ala Synonymous 3/12 -
21-34922173-A-C SON c.636A>C p.Ala212Ala Synonymous 3/12 -
5-34945122-A-G DNAJC21 c.1134A>G p.Pro378Pro Synonymous 8/13 -
6-128505668-G-C PTPRK c.1071C>G p.Thr357Thr Synonymous 7/31 -
6-128505668-G-A PTPRK c.1071C>T p.Thr357Thr Synonymous 7/31 -
11-18600283-T-C UEVLD c.115A>G p.Met39Val Missense 2/11 -
11-1016800-G-C MUC6 c.6001C>G p.Pro2001Ala Missense 31/33 -
11-1016800-G-A MUC6 c.6001C>T p.Pro2001Ser Missense 31/33 -
5-7897061-T-C MTRR c.1761T>C p.Tyr587Tyr Synonymous 13/15 -
2-233721525-G-A GIGYF2 c.3855G>A p.Ser1285Ser Synonymous 29/29 -
5-170336704-G-A RANBP17 c.529G>A p.Ala177Thr Missense 6/28 -
2-219029932-C-T CXCR1 c.3G>A p.Met1Ile Missense 2/2 -
1-159410217-G-A OR10J1 c.636G>A - synonymous_variant 1/1 -
4-107151587-A-G TBCK c.1518T>C p.Cys506Cys Synonymous 17/24 -
9-35101522-G-A STOML2 c.480C>T p.Ala160Ala Synonymous 6/10 -
21-43258138-C-A PRDM15 c.2004G>T p.Pro668Pro Synonymous 15/31 -
22-50696678-G-A MAPK12 c.308C>T p.Thr103Met Missense 3/12 -
1-43166630-G-A YBX1 c.919G>A p.Asp307Asn Missense 7/8 -
2-27262667-G-C TMEM214 c.1584G>C p.Ala528Ala Synonymous 14/17 -
11-66249852-G-T DPP3 c.181G>T p.Ala61Ser Missense 2/17 -
2-73799632-C-G ALMS1 c.10631C>G - missense_variant 16/23 -
8-110456989-G-A PKHD1L1 c.4891G>A p.Glu1631Lys Missense 38/78 -
16-52107811-T-A C16orf97 c.1-15A>T - 5-UTRSNV 1/6 -
3-128200072-C-T GATA2 c.1233G>A p.Ala411Ala Synonymous 6/6 -
8-21833926-G-T XPO7 c.657G>T p.Leu219Leu Synonymous 7/28 -
3-130114082-C-G COL6A5 c.3342C>G p.Ile1114Met Missense 8/40 -
X-140994031-G-C MAGEC1 c.841G>C p.Val281Leu Missense 4/4 -
19-9065763-G-A MUC16 c.21683C>T p.Pro7228Leu Missense 3/84 -
1-53544249-A-G PODN c.1211A>G p.Gln404Arg Missense 8/11 -
9-100420976-G-A NCBP1 c.1428G>A p.Leu476Leu Synonymous 15/23 -
22-50696678-G-T MAPK12 c.308C>A p.Thr103Lys Missense 3/12 -
11-34149075-C-T NAT10 c.1173C>T p.Ala391Ala Synonymous 12/29 -
11-63175630-G-A SLC22A9 c.1335G>A p.Ala445Ala Synonymous 8/10 -
8-103293699-T-A UBR5 c.5745A>T p.Gly1915Gly Synonymous 41/59 -
1-229594003-C-G NUP133 c.2885G>C p.Arg962Pro Missense 21/26 -
17-41267740-T-G BRCA1 c.134+3A>C - IntronicSNV - 3/22
15-58833993-G-T LIPC c.283G>T p.Val95Leu Missense 3/9 -
2-3428364-A-G TRAPPC12 c.1347A>G p.Glu449Glu Synonymous 5/12 -
1-212180692-T-C INTS7 c.656A>G p.Gln219Arg Missense 6/20 -
8-21833926-G-C XPO7 c.657G>C p.Leu219Leu Synonymous 7/28 -
1-154247435-G-A HAX1 c.514G>A p.Val172Ile Missense 4/7 -
17-61864403-T-A DDX42 c.1-7T>A - 5-UTRSNV 3/19 -
20-54958082-C-T AURKA c.525G>A p.Glu175Glu Synonymous 5/9 -
17-42333071-C-T SLC4A1 c.1770G>A p.Lys590Lys Synonymous 14/20 -
1-234367264-C-T SLC35F3 c.385C>T p.Arg129Trp Missense 3/8 -
1-234367264-C-G SLC35F3 c.385C>G p.Arg129Gly Missense 3/8 -
1-234367264-C-A SLC35F3 c.385C>A p.Arg129Arg Synonymous 3/8 -
16-15814717-C-T MYH11 c.4791G>A p.Lys1597Lys Synonymous 34/43 -
1-162351752-C-A C1orf226 c.61C>A p.His21Asn Missense 1/2 -
8-100865682-G-A VPS13B c.10140G>A p.Ala3380Ala Synonymous 56/62 -
12-53091556-C-T KRT77 c.668G>A p.Arg223Gln Missense 2/9 -
9-88897432-C-T ISCA1 c.1-59G>A - 5-UTRSNV 1/4 -
3-4714920-A-G ITPR1 c.2260A>G p.Met754Val Missense 20/58 -
9-88897432-C-G ISCA1 c.1-59G>C - 5-UTRSNV 1/4 -
8-101727801-C-T PABPC1 c.532G>A p.Glu178Lys Missense 4/15 -
1-100740485-T-C RTCA c.618T>C p.Tyr206Tyr Synonymous 7/12 -
1-45479709-A-G UROD c.603A>G p.Pro201Pro Synonymous 6/10 -
3-111710446-A-C ABHD10 c.799A>C p.Thr267Pro Missense 5/5 -
3-128627862-C-T ACAD9 c.1405C>T p.Arg469Trp Missense 14/18 -
1-160252819-G-A PEX19 c.261C>T p.Phe87Phe Synonymous 3/8 -
12-4461695-A-G TIGAR c.651A>G p.Leu217Leu Synonymous 6/6 -
14-95085642-C-G SERPINA3 c.754C>G p.Pro252Ala Missense 3/5 -
1-223284915-G-T TLR5 c.1459C>A p.Leu487Ile Missense 6/6 -
19-36018648-C-G SBSN c.375+161G>C - IntronicSNV - 1/4
1-248308934-C-T OR2M5 c.485C>T p.Ala162Val Missense 1/1 -
16-89221287-G-A ACSF3 c.*672G>A - 3-UTRSNV 11/11 -
16-89221287-G-C ACSF3 c.*672G>C - 3-UTRSNV 11/11 -
1-248367015-G-A OR2M3 c.646G>A p.Ala216Thr Missense 1/1 -
10-79789200-G-C POLR3A c.1-35C>G - 5-UTRSNV 1/31 -
16-9892213-G-C GRIN2A c.2277C>G p.Thr759Thr Synonymous 12/14 -
16-9892213-G-A GRIN2A c.2277C>T p.Thr759Thr Synonymous 12/14 -
3-193385047-C-T OPA1 c.2961C>T p.Arg987Arg Synonymous 29/31 -
3-193385047-C-A OPA1 c.2961C>A p.Arg987Arg Synonymous 29/31 -
8-124138858-G-A TBC1D31 c.1815G>A p.Met605Ile Missense 13/22 -
14-76644266-C-A GPATCH2L c.1053-65C>A - IntronicSNV - 6/9
11-123894246-A-G OR10G9 c.527A>G p.Tyr176Cys Missense 1/1 -
4-7985004-C-T ABLIM2 c.1811G>A p.Arg604Gln Missense 20/21 -
3-142188337-A-C ATR c.6394T>G p.Tyr2132Asp Missense 38/47 -
17-65120111-G-A HELZ c.3407C>T p.Thr1136Ile Missense 25/33 -
8-27925796-A-T NUGGC c.417T>A p.Ile139Ile Synonymous 5/19 -
5-162887648-C-T HMMR c.1-51C>T - 5-UTRSNV 1/18 -
9-35044398-T-C C9orf131 c.1772T>C p.Ile591Thr Missense 2/2 -
14-65241906-T-C SPTB c.4779A>G p.Ala1593Ala Synonymous 22/35 -
11-64359274-C-T SLC22A12 c.246C>T p.Asn82Asn Synonymous 1/10 -
11-20676319-G-T SLC6A5 c.2299G>T p.Gly767Trp Missense 16/16 -
20-62641575-G-A PRPF6 c.1209G>A p.Ser403Ser Synonymous 10/21 -
15-89008917-G-A MRPL46 c.316C>T p.His106Tyr Missense 2/4 -
5-121356350-A-C SRFBP1 c.920A>C p.Gln307Pro Missense 6/8 -
12-80707293-A-G OTOGL c.3461A>G p.Asp1154Gly Missense 30/58 -
11-128680466-C-G FLI1 c.942C>G p.Pro314Pro Synonymous 9/9 -
3-132400851-C-T NPHP3 c.3896G>A p.Gly1299Asp Missense 27/27 -
3-98518377-C-T DCBLD2 c.2167G>A p.Asp723Asn Missense 16/16 -
12-66308896-A-G HMGA2 c.250-36267A>G - IntronicSNV - 3/4
12-998338-A-G WNK1 c.5397A>G p.Gln1799Gln Synonymous 21/28 -
6-7884652-C-T TXNDC5 c.1116G>A p.Ala372Ala Synonymous 9/10 -
4-103537662-G-A NFKB1 c.2821G>A p.Glu941Lys Missense 24/24 -
12-19506870-C-T PLEKHA5 c.2574C>T p.Pro858Pro Synonymous 20/26 -
12-66597527-A-T IRAK3 c.134-5709A>T - IntronicSNV - 1/10
4-115997346-T-C NDST4 c.847A>G p.Ile283Val Missense 2/14 -
6-16306977-T-A ATXN1 c.2031A>T p.Ser677Ser Synonymous 9/9 -
6-16306977-T-C ATXN1 c.2031A>G p.Ser677Ser Synonymous 9/9 -
16-74709610-G-T MLKL c.1091C>A p.Thr364Lys Missense 8/11 -
2-202245423-A-T TRAK2 c.2588T>A p.Ile863Asn Missense 16/16 -
3-121345694-G-A FBXO40 c.2067G>A p.Glu689Glu Synonymous 4/4 -
10-27353007-T-C ANKRD26 c.1273A>G p.Ile425Val Missense 12/34 -
2-238287357-C-T COL6A3 c.2419G>A p.Ala807Thr Missense 6/44 -
7-105671267-T-C CDHR3 c.2334T>C p.Asp778Asp Synonymous 18/19 -
2-168106085-G-A XIRP2 c.8183G>A p.Ser2728Asn Missense 9/11 -
2-238462325-T-C MLPH c.*90T>C - 3-UTRSNV 16/16 -
10-101294851-G-T NKX2-3 c.468G>T p.Ser156Ser Synonymous 2/2 -
17-1678353-G-C SERPINF1 c.645G>C p.Gly215Gly Synonymous 6/8 -
1-79093910-G-A IFI44L c.310G>A p.Ala104Thr Missense 2/9 -
3-69246065-G-A FRMD4B c.1078C>T p.Arg360Trp Missense 13/23 -
3-69246065-G-C FRMD4B c.1078C>G p.Arg360Gly Missense 13/23 -
8-17541957-C-T MTUS1 c.2718G>A p.Thr906Thr Synonymous 7/15 -
5-162887648-C-A HMMR c.1-51C>A - 5-UTRSNV 1/18 -
8-124664368-C-A KLHL38 c.799G>T p.Val267Phe Missense 2/4 -
3-10255215-G-A IRAK2 c.771G>A p.Glu257Glu Synonymous 6/13 -
19-13015347-G-A SYCE2 c.265C>T p.His89Tyr Missense 3/6 -
12-9085218-C-T PHC1 c.1165C>T p.Gln389* Nonsense 8/15 -
7-1132691-C-T GPER1 c.*199C>T - 3-UTRSNV 3/3 -
8-145086736-T-G SPATC1 c.53T>G p.Val18Gly Missense 1/5 -
8-145086736-T-C SPATC1 c.53T>C p.Val18Ala Missense 1/5 -
6-139609878-G-A TXLNB c.159C>T p.Pro53Pro Synonymous 2/10 -
3-189584563-C-T TP63 c.859C>T p.Leu287Leu Synonymous 6/14 -
18-29867688-T-C GAREM1 c.872A>G p.Lys291Arg Missense 4/6 -
12-4662210-T-C RAD51AP1 c.618T>C p.Ser206Ser Synonymous 7/9 -
7-138440495-G-C ATP6V0A4 c.755C>G p.Pro252Arg Missense 10/22 -
9-114341136-C-G PTGR1 c.591G>C p.Glu197Asp Missense 7/10 -
7-98495408-G-C TRRAP c.552G>C p.Val184Val Synonymous 8/71 -
17-17919414-G-A DRC3 c.1363G>A p.Gly455Arg Missense 13/14 -
3-129155451-C-T MBD4 c.1036G>A p.Glu346Lys Missense 3/8 -
11-59863104-A-G MS4A2 c.710A>G p.Glu237Gly Missense 7/7 -
2-32740295-C-G BIRC6 c.10807C>G p.Leu3603Val Missense 55/74 -
7-105615357-G-A CDHR3 c.114G>A p.Gly38Gly Synonymous 2/19 -
16-74709610-G-A MLKL c.1091C>T p.Thr364Met Missense 8/11 -
1-245851289-G-A KIF26B c.5004G>A p.Ser1668Ser Synonymous 12/15 -
6-165808716-G-C PDE10A c.1459C>G p.Pro487Ala Missense 15/22 -
15-42676689-C-T CAPN3 c.318C>T p.Cys106Cys Synonymous 2/24 -
1-79093910-G-T IFI44L c.310G>T p.Ala104Ser Missense 2/9 -
7-1192725-G-A ZFAND2A c.418C>T p.Pro140Ser Missense 5/5 -
17-65120111-G-C HELZ c.3407C>G p.Thr1136Ser Missense 25/33 -
5-151170527-G-A G3BP1 c.255G>A p.Thr85Thr Synonymous 4/12 -
17-56405046-C-T TSPOAP1 c.236G>A p.Gly79Glu Missense 1/32 -
9-15214237-T-C TTC39B c.382A>G p.Thr128Ala Missense 4/20 -
9-15214237-T-G TTC39B c.382A>C p.Thr128Pro Missense 4/20 -
9-139915940-A-G ABCA2 c.801T>C p.Ala267Ala Synonymous 8/49 -
8-104384780-A-G CTHRC1 c.150+746A>G - IntronicSNV - 1/3
9-139915940-A-C ABCA2 c.801T>G p.Ala267Ala Synonymous 8/49 -
10-134147172-G-A LRRC27 c.144G>A p.Pro48Pro Synonymous 2/11 -
8-41583441-T-C ANK1 c.450A>G p.Val150Val Synonymous 6/42 -
1-247007178-A-T AHCTF1 c.6471T>A p.Ser2157Ser Synonymous 34/36 -
21-47575470-G-C FTCD c.1-33C>G - 5-UTRSNV 1/15 -
1-109792973-G-A CELSR2 c.272G>A p.Arg91Lys Missense 1/34 -
3-23848835-A-C UBE2E1 c.75A>C p.Glu25Asp Missense 2/6 -
16-8829626-G-A ABAT c.30G>A p.Leu10Leu Synonymous 2/16 -
5-109864483-T-C TMEM232 c.1509A>G p.Ser503Ser Synonymous 12/14 -
3-139257727-T-C RBP1 c.334A>G p.Met112Val Missense 2/4 -
7-23239133-C-T NUPL2 c.666C>T p.Ser222Ser Synonymous 6/7 -
10-5436073-G-A TUBAL3 c.748C>T p.Arg250Trp Missense 4/4 -
16-53682949-C-T RPGRIP1L c.2231G>A p.Arg744Gln Missense 16/27 -
4-186598546-C-T SORBS2 c.93+1031G>A - IntronicSNV - 5/22
16-53682949-C-A RPGRIP1L c.2231G>T p.Arg744Leu Missense 16/27 -
6-123102279-G-A FABP7 c.288G>A p.Gln96Gln Synonymous 3/4 -
8-61765560-G-C CHD7 c.6276G>C p.Glu2092Asp Missense 31/38 -
1-222713534-C-T HHIPL2 c.1268G>A p.Arg423His Missense 4/9 -
2-220099713-C-T ANKZF1 c.1370C>T p.Thr457Ile Missense 10/14 -
20-4202315-C-G ADRA1D c.1574G>C p.Gly525Ala Missense 2/2 -
11-12241818-G-A MICAL2 c.1019G>A p.Arg340Gln Missense 9/28 -
19-44981862-A-G ZNF180 c.836T>C p.Ile279Thr Missense 5/5 -
21-38309459-C-T HLCS c.286G>A p.Val96Ile Missense 5/12 -
X-15582209-C-T ACE2 c.2247G>A p.Val749Val Synonymous 18/19 -
11-1093346-C-T MUC2 c.12581C>T - missense_variant 32/51 -
6-7248990-G-A RREB1 c.4853G>A p.Arg1618Gln Missense 12/12 -
6-7248990-G-C RREB1 c.4853G>C p.Arg1618Pro Missense 12/12 -
16-83940604-G-A MLYCD c.541G>A p.Val181Met Missense 2/5 -
11-33565518-C-G KIAA1549L c.2409C>G - synonymous_variant 2/21 -
10-24922388-T-C ARHGAP21 c.383A>G p.Asn128Ser Missense 6/26 -
5-89979518-C-T ADGRV1 c.5780C>T p.Thr1927Met Missense 28/90 -
18-22804911-G-A ZNF521 c.2971C>T p.Arg991Trp Missense 4/8 -
5-54585213-C-T DHX29 c.951G>A p.Met317Ile Missense 8/27 -
17-48628123-C-T SPATA20 c.1228C>T p.Arg410Trp Missense 11/17 -
17-48628123-C-A SPATA20 c.1228C>A p.Arg410Arg Synonymous 11/17 -
20-20475809-G-A RALGAPA2 c.5319C>T p.Tyr1773Tyr Synonymous 36/40 -
7-31009576-G-T GHRHR c.363G>T p.Glu121Asp Missense 4/13 -
2-135744416-C-G MAP3K19 c.2026G>C p.Glu676Gln Missense 7/10 -
1-202933779-G-T CYB5R1 c.520C>A p.Arg174Arg Synonymous 6/9 -
1-92789824-C-G RPAP2 c.1347C>G p.Tyr449* Nonsense 8/13 -
20-4202315-C-T ADRA1D c.1574G>A p.Gly525Asp Missense 2/2 -
20-3577062-G-A ATRN c.3455G>A p.Arg1152Lys Missense 21/29 -
1-248084440-T-G OR2T8 c.121T>G p.Ser41Ala Missense 1/1 -
1-228873441-G-A RHOU c.284G>A p.Arg95Gln Missense 2/3 -
9-37429747-G-A GRHPR c.512G>A p.Arg171His Missense 6/9 -
11-64525266-C-T PYGM c.645G>A p.Lys215Lys Synonymous 5/20 -
12-124175086-C-T TCTN2 c.898C>T p.Leu300Leu Synonymous 8/18 -
19-53303332-C-T ZNF28 c.1766G>A p.Arg589Gln Missense 4/4 -
22-21235389-A-C SNAP29 c.487A>C p.Ser163Arg Missense 3/5 -
22-21235389-A-G SNAP29 c.487A>G p.Ser163Gly Missense 3/5 -
3-172766777-C-T SPATA16 c.720G>A p.Arg240Arg Synonymous 3/11 -
19-43093033-G-A CEACAM8 c.861C>T p.Pro287Pro Synonymous 4/6 -
16-49672109-G-A ZNF423 c.954C>T p.His318His Synonymous 4/8 -
1-236702374-G-C LGALS8 c.330G>C p.Leu110Leu Synonymous 5/12 -
22-36691691-T-C MYH9 c.3345A>G p.Glu1115Glu Synonymous 26/41 -
3-193372687-A-G OPA1 c.2049A>G p.Val683Val Synonymous 22/31 -
3-145924454-C-T PLSCR4 c.213G>A p.Leu71Leu Synonymous 4/9 -
3-145924454-C-G PLSCR4 c.213G>C p.Leu71Phe Missense 4/9 -
5-34998894-G-C AGXT2 c.1475C>G p.Pro492Arg Missense 14/14 -
10-28224075-G-A ARMC4 c.2359C>T p.Arg787Cys Missense 16/20 -
8-33356827-T-A TTI2 c.1423-32A>T - IntronicSNV - 6/6
19-15852841-G-A OR10H3 c.639G>A p.Leu213Leu Synonymous 1/1 -
X-90691185-T-C PABPC5 c.609T>C p.Val203Val Synonymous 2/2 -
11-18357419-A-C GTF2H1 c.273A>C p.Ala91Ala Synonymous 3/15 -
11-18357419-A-G GTF2H1 c.273A>G p.Ala91Ala Synonymous 3/15 -
16-30762886-C-T PHKG2 c.288C>T p.Ser96Ser Synonymous 4/10 -
1-202933779-G-A CYB5R1 c.520C>T p.Arg174* Nonsense 6/9 -
19-9025654-T-C MUC16 c.36800A>G p.Lys12267Arg Missense 15/84 -
1-224544642-T-G CNIH4 c.16T>G p.Phe6Val Missense 1/5 -
9-140611308-C-G EHMT1 c.316C>G p.Gln106Glu Missense 3/27 -
2-179587546-A-G TTN c.18348T>C p.Asp6116Asp Synonymous 73/312 -
12-71526593-G-A TSPAN8 c.456C>T p.Cys152Cys Synonymous 7/9 -
11-75852279-C-T UVRAG c.1922C>T p.Thr641Ile Missense 15/15 -
1-169510367-T-G F5 c.3961A>C p.Ile1321Leu Missense 13/25 -
6-135539103-G-A MYB c.1899G>A p.Arg633Arg Synonymous 15/15 -
10-123258034-A-T FGFR2 c.1647T>A p.Asn549Lys Missense 12/18 -
2-136872715-G-A CXCR4 c.795C>T p.Ile265Ile Synonymous 1/1 -
12-6883915-G-A LAG3 c.666G>A p.Ala222Ala Synonymous 4/8 -
9-21141135-C-T IFNW1 c.435G>A p.Arg145Arg Synonymous 1/1 -
22-20784050-T-A SCARF2 c.1273A>T p.Thr425Ser Missense 7/14 -
4-41672759-C-T LIMCH1 c.2243-812C>T - IntronicSNV - 16/26
4-41672759-C-G LIMCH1 c.2243-812C>G - IntronicSNV - 16/26
8-121239515-G-A COL14A1 c.2061G>A p.Thr687Thr Synonymous 17/48 -
11-33308836-T-C HIPK3 c.876T>C p.Ser292Ser Synonymous 2/17 -
5-52351838-G-A ITGA2 c.955G>A p.Ala319Thr Missense 9/30 -
2-207625662-C-T MDH1B c.98G>A p.Arg33Gln Missense 2/12 -
9-105767536-G-A CYLC2 c.623G>A p.Gly208Asp Missense 5/8 -
16-816977-G-A MSLN c.1466G>A p.Gly489Glu Missense 15/18 -
16-816977-G-T MSLN c.1466G>T p.Gly489Val Missense 15/18 -
9-34512393-T-G DNAI1 c.1460T>G p.Val487Gly Missense 15/20 -
1-93720153-G-A CCDC18 c.3324G>A p.Arg1108Arg Synonymous 24/28 -
18-6964785-C-A LAMA1 c.7213G>T p.Asp2405Tyr Missense 51/63 -
12-54403384-G-T HOXC8 c.316G>T p.Ala106Ser Missense 1/2 -
18-6964785-C-T LAMA1 c.7213G>A p.Asp2405Asn Missense 51/63 -
1-180199727-T-C LHX4 c.63T>C p.Gly21Gly Synonymous 1/6 -
2-71351612-G-A MCEE c.102C>T p.Pro34Pro Synonymous 2/3 -
10-132891465-C-T TCERG1L c.1721G>A p.Arg574Gln Missense 12/12 -
1-184775133-C-T FAM129A c.1393G>A p.Glu465Lys Missense 11/14 -
5-89979630-T-G ADGRV1 c.5892T>G p.Asn1964Lys Missense 28/90 -
3-157154839-T-G PTX3 c.117T>G p.His39Gln Missense 1/3 -
5-89979630-T-C ADGRV1 c.5892T>C p.Asn1964Asn Synonymous 28/90 -
3-124462959-A-G UMPS c.*28A>G - 3-UTRSNV 6/6 -
10-14987138-G-A DCLRE1C c.-78C>T - 5_prime_UTR_variant 3/13 -
10-14987138-G-C DCLRE1C c.-78C>G - 5_prime_UTR_variant 3/13 -
17-18259294-A-G SHMT1 c.2T>C p.Met1Thr Missense 2/12 -
2-135884166-A-G RAB3GAP1 c.913A>G p.Ile305Val Missense 11/24 -
17-18259294-A-T SHMT1 c.2T>A p.Met1Lys Missense 2/12 -
1-214510115-T-G SMYD2 c.1290T>G p.Ile430Met Missense 12/12 -
1-229594003-C-T NUP133 c.2885G>A p.Arg962His Missense 21/26 -
12-27849666-G-C REP15 c.171G>C p.Glu57Asp Missense 1/1 -
5-94878912-C-G TTC37 c.210G>C p.Glu70Asp Missense 5/43 -
11-93431931-C-A CEP295 c.3853C>A p.Gln1285Lys Missense 15/30 -
3-112188609-T-G BTLA c.590A>C p.Asn197Thr Missense 4/5 -
5-94878912-C-T TTC37 c.210G>A p.Glu70Glu Synonymous 5/43 -
5-145718765-C-T POU4F3 c.90C>T p.Ala30Ala Synonymous 1/2 -
11-108277861-C-T C11orf65 c.190G>A p.Ala64Thr Missense 4/9 -
X-153132516-G-A L1CAM c.2201C>T p.Thr734Met Missense 17/27 -
14-94044265-G-A UNC79 c.1758G>A p.Pro586Pro Synonymous 18/50 -
11-108277861-C-G C11orf65 c.190G>C p.Ala64Pro Missense 4/9 -
11-129784764-C-T PRDM10 c.2676G>A p.Thr892Thr Synonymous 17/21 -
14-94526812-C-T DDX24 c.1545G>A p.Gln515Gln Synonymous 5/9 -
20-52790005-C-T CYP24A1 c.114G>A p.Pro38Pro Synonymous 1/12 -
4-154644542-G-A RNF175 c.470C>T p.Ala157Val Missense 5/9 -
7-77807352-G-A MAGI2 c.2379C>T p.Leu793Leu Synonymous 14/22 -
16-89833576-G-C FANCA c.2574C>G p.Ser858Arg Missense 27/43 -
15-63933770-A-G HERC1 c.11506T>C p.Leu3836Leu Synonymous 60/78 -
4-110757224-G-A RRH c.459G>A p.Leu153Leu Synonymous 4/7 -
1-93299193-G-A RPL5 c.165G>A p.Val55Val Synonymous 3/8 -
2-97507843-C-T ANKRD23 c.254G>A p.Arg85Gln Missense 3/9 -
X-151303243-G-A MAGEA10 c.850C>T p.Arg284Trp Missense 4/4 -
7-102495249-T-C FBXL13 c.1694A>G p.Tyr565Cys Missense 17/20 -
22-40042720-C-T CACNA1I c.1296C>T p.Gly432Gly Synonymous 8/36 -
19-50312801-C-T FUZ c.524G>A p.Gly175Asp Missense 6/11 -
4-101982305-C-G PPP3CA c.1095G>C p.Leu365Leu Synonymous 10/14 -
6-26505268-G-C BTN1A1 c.543G>C p.Lys181Asn Missense 4/8 -
6-26505268-G-A BTN1A1 c.543G>A p.Lys181Lys Synonymous 4/8 -
15-83674432-G-A C15orf40 c.379C>T p.Arg127Cys Missense 4/4 -
13-73482747-C-A PIBF1 c.1567C>A p.His523Asn Missense 12/18 -
X-2990073-C-G ARSF c.18C>G p.Pro6Pro Synonymous 3/11 -
X-2990073-C-A ARSF c.18C>A p.Pro6Pro Synonymous 3/11 -
7-107420206-G-A SLC26A3 c.1314C>T p.Ser438Ser Synonymous 12/21 -
8-133880436-C-T TG c.144C>T p.Tyr48Tyr Synonymous 2/48 -
X-118222099-G-A KIAA1210 c.3094C>T p.Arg1032Trp Missense 11/14 -
11-819748-C-T PNPLA2 c.30C>T p.Ile10Ile Synonymous 2/10 -
20-34782171-T-G EPB41L1 c.1338T>G p.His446Gln Missense 12/22 -
20-34782171-T-C EPB41L1 c.1338T>C p.His446His Synonymous 12/22 -
12-131311786-T-G STX2 c.57A>C p.Thr19Thr Synonymous 2/11 -
1-248309159-C-A OR2M5 c.710C>A p.Ala237Asp Missense 1/1 -
16-239272-C-T LUC7L c.1041G>A p.Pro347Pro Synonymous 10/10 -
5-43509364-T-C C5orf34 c.78A>G p.Gln26Gln Synonymous 2/13 -
9-5924709-T-C KIAA2026 c.2635A>G p.Ile879Val Missense 7/8 -
17-58499989-C-A C17orf64 c.36C>A p.Asp12Glu Missense 1/6 -
17-58499989-C-G C17orf64 c.36C>G p.Asp12Glu Missense 1/6 -
9-137688228-C-T COL5A1 c.2808C>T p.Ser936Ser Synonymous 35/66 -
1-160394010-C-T VANGL2 c.1242C>T p.Tyr414Tyr Synonymous 7/8 -
11-93523838-C-T MED17 c.516C>T p.Thr172Thr Synonymous 3/12 -
11-6568278-A-G DNHD1 c.6109A>G p.Ser2037Gly Missense 21/43 -
8-146067125-C-T ZNF7 c.633C>T p.Ile211Ile Synonymous 5/5 -
17-28539813-G-A SLC6A4 c.1149C>T p.Leu383Leu Synonymous 9/15 -
5-115338958-G-T LVRN c.1918G>T p.Val640Phe Missense 12/20 -
5-115338958-G-A LVRN c.1918G>A p.Val640Ile Missense 12/20 -
7-31855625-C-G PDE1C c.1726G>C p.Val576Leu Missense 15/17 -
2-27282229-T-A AGBL5 c.2046T>A p.Ser682Ser Synonymous 11/15 -
16-66801331-C-G TERB1 c.1767G>C p.Thr589Thr Synonymous 16/19 -
16-66801331-C-T TERB1 c.1767G>A p.Thr589Thr Synonymous 16/19 -
18-2750444-C-T SMCHD1 c.4104C>T p.Pro1368Pro Synonymous 32/48 -
3-122288312-G-T DTX3L c.1376G>T p.Gly459Val Missense 3/5 -
8-104948947-C-G RIMS2 c.2544C>G p.Gly848Gly Synonymous 13/24 -
9-140395253-G-C PNPLA7 c.1572C>G p.Pro524Pro Synonymous 15/34 -
9-140395253-G-A PNPLA7 c.1572C>T p.Pro524Pro Synonymous 15/34 -
3-1339584-G-A CNTN6 c.670G>A p.Glu224Lys Missense 7/23 -
13-96743545-A-G HS6ST3 c.429A>G p.Lys143Lys Synonymous 1/2 -
18-29101156-T-G DSG2 c.473T>G p.Val158Gly Missense 5/15 -
13-79911336-T-G RBM26 c.2553A>C p.Arg851Arg Synonymous 18/21 -
12-16189694-T-A DERA c.*14T>A - 3-UTRSNV 9/9 -
2-168114982-G-T XIRP2 c.*655G>T - 3_prime_UTR_variant 11/11 -
2-168114982-G-A XIRP2 c.*655G>A - 3_prime_UTR_variant 11/11 -
18-24496913-G-C CHST9 c.642C>G p.Ile214Met Missense 6/6 -
3-105404298-C-A CBLB c.2067G>T p.Pro689Pro Synonymous 14/19 -
X-19375782-A-C PDHA1 c.844A>C p.Met282Leu Missense 9/11 -
2-212289001-G-A ERBB4 c.2745C>T p.Thr915Thr Synonymous 23/27 -
4-115544713-C-T UGT8 c.677C>T p.Pro226Leu Missense 1/5 -
20-5903388-A-C CHGB c.598A>C p.Asn200His Missense 4/5 -
1-156641609-G-T NES c.2371C>A p.Leu791Ile Missense 4/4 -
15-42742620-G-A ZNF106 c.1781C>T p.Thr594Ile Missense 2/19 -
7-20698751-C-G ABCB5 c.372+452C>G - IntronicSNV - 5/18
5-140580493-T-A PCDHB11 c.1146T>A p.Val382Val Synonymous 1/1 -
1-115272916-T-C CSDE1 c.1226A>G p.Asn409Ser Missense 11/19 -
1-115272916-T-G CSDE1 c.1226A>C p.Asn409Thr Missense 11/19 -
11-123813795-T-C OR6T1 c.751A>G p.Ile251Val Missense 1/1 -
5-55206398-G-T IL31RA c.1540G>T p.Glu514* Nonsense 12/15 -
19-12089709-T-C ZNF763 c.979T>C p.Tyr327His Missense 4/4 -
22-32651262-A-G SLC5A4 c.55T>C p.Leu19Leu Synonymous 1/15 -
8-143623459-G-T ADGRB1 c.3864G>T p.Leu1288Leu Synonymous 28/31 -
1-152058192-G-A TCHHL1 c.1966C>T p.Gln656* Nonsense 3/3 -
2-179427508-G-A TTN c.75647C>T p.Thr25216Met Missense 275/312 -
17-76548866-C-G DNAH17 c.2200G>C p.Val734Leu Missense 15/81 -
17-76548866-C-T DNAH17 c.2200G>A p.Val734Ile Missense 15/81 -
20-19970804-G-A RIN2 c.2064G>A p.Leu688Leu Synonymous 9/12 -
15-79382733-G-A RASGRF1 c.108C>T p.Asn36Asn Synonymous 1/28 -
3-195516980-A-G MUC4 c.1471T>C p.Ser491Pro Missense 2/25 -
12-106824188-T-A POLR3B c.1401T>A p.Gly467Gly Synonymous 14/28 -
7-133884081-G-A LRGUK c.1655G>A p.Arg552His Missense 14/20 -
20-2384349-G-A TGM6 c.1216G>A p.Glu406Lys Missense 9/13 -
7-100028757-G-T MEPCE c.1-292G>T - 5-UTRSNV 2/5 -
1-92146279-A-G TGFBR3 c.*3017T>C - 3-UTRSNV 17/17 -
1-45347394-C-T EIF2B3 c.674G>A p.Arg225Gln Missense 7/12 -
18-21897114-G-A OSBPL1A c.869C>T p.Thr290Met Missense 11/28 -
6-27420048-G-A ZNF184 c.1290C>T p.His430His Synonymous 6/6 -
18-76870412-A-G ATP9B c.351A>G p.Thr117Thr Synonymous 3/30 -
18-76870412-A-C ATP9B c.351A>C p.Thr117Thr Synonymous 3/30 -
6-27420048-G-C ZNF184 c.1290C>G p.His430Gln Missense 6/6 -
9-5534924-C-G PDCD1LG2 c.235C>G p.Gln79Glu Missense 3/7 -
2-43927568-C-G PLEKHH2 c.1471C>G p.Leu491Val Missense 8/30 -
2-43927568-C-T PLEKHH2 c.1471C>T p.Leu491Leu Synonymous 8/30 -
1-92799008-G-A RPAP2 c.1516G>A p.Val506Ile Missense 9/13 -
17-79941511-C-T ASPSCR1 c.240C>T p.Pro80Pro Synonymous 3/16 -
1-236175309-A-T NID1 c.2439T>A p.Pro813Pro Synonymous 12/20 -
12-69742188-C-T LYZ c.1-1C>T - 5-UTRSNV 1/4 -
X-153135273-C-T L1CAM c.1108G>A p.Gly370Arg Missense 9/27 -
6-39507889-C-T KIF6 c.1535G>A p.Arg512His Missense 13/23 -
12-69742188-C-A LYZ c.1-1C>A - 5-UTRSNV 1/4 -
6-74191870-T-C MTO1 c.1368T>C p.Thr456Thr Synonymous 8/12 -
1-103400635-A-G COL11A1 c.3125T>C p.Val1042Ala Missense 43/65 -
18-77137293-G-A ATP9B c.3354G>A p.Ala1118Ala Synonymous 30/30 -
20-34089718-G-T CEP250 c.3945G>T p.Leu1315Leu Synonymous 29/35 -
17-58150587-C-A HEATR6 c.522G>T p.Leu174Phe Missense 4/20 -
12-56230980-C-T MMP19 c.1367G>A p.Arg456Gln Missense 9/9 -
12-56230980-C-A MMP19 c.1367G>T p.Arg456Leu Missense 9/9 -
4-77003212-T-A ART3 c.305T>A p.Ile102Asn Missense 3/11 -
8-61765560-G-A CHD7 c.6276G>A p.Glu2092Glu Synonymous 31/38 -
13-33629393-C-T KL c.1540C>T p.Pro514Ser Missense 3/5 -
19-38976655-C-T RYR1 c.5360C>T p.Pro1787Leu Missense 34/106 -
16-88901744-G-T GALNS c.775C>A p.Arg259Arg Synonymous 8/14 -
16-88901744-G-A GALNS c.775C>T p.Arg259Trp Missense 8/14 -
13-103518708-G-A ERCC5 c.2296G>A p.Gly766Arg Missense 10/15 -
1-154574541-G-C ADAR c.577C>G p.Pro193Ala Missense 2/15 -
6-56483852-T-G DST c.4980A>C p.Val1660Val Synonymous 23/24 -
7-94047050-G-T COL1A2 c.1878G>T p.Val626Val Synonymous 32/52 -
6-36867376-C-G C6orf89 c.177C>G p.Pro59Pro Synonymous 2/8 -
21-38308774-C-T HLCS c.971G>A p.Arg324His Missense 5/12 -
3-113172548-T-C SPICE1 c.1907A>G p.Gln636Arg Missense 14/18 -
3-113172548-T-G SPICE1 c.1907A>C p.Gln636Pro Missense 14/18 -
2-179518003-A-C TTN c.31742-735T>G - IntronicSNV - 155/311
2-179518003-A-G TTN c.31742-735T>C - IntronicSNV - 155/311
10-91474750-G-A KIF20B c.751G>A p.Glu251Lys Missense 8/33 -
17-79993919-C-T DCXR c.646G>A p.Ala216Thr Missense 8/8 -
13-73505365-T-G PIBF1 c.1793T>G p.Leu598Arg Missense 14/18 -
3-133191280-C-T BFSP2 c.1115C>T p.Ala372Val Missense 6/7 -
21-33074633-A-T SCAF4 c.381T>A p.Ile127Ile Synonymous 5/20 -
4-9828099-G-A SLC2A9 c.1458C>T p.Ser486Ser Synonymous 13/13 -
5-179201298-C-T MAML1 c.2471C>T p.Pro824Leu Missense 5/5 -
19-41313437-C-T EGLN2 c.1149C>T p.Ala383Ala Synonymous 5/6 -
2-152317669-G-A RIF1 c.3093G>A p.Ser1031Ser Synonymous 27/35 -
11-100999245-G-A PGR c.557C>T p.Pro186Leu Missense 1/8 -
12-26839488-C-A ITPR2 c.1074G>T p.Pro358Pro Synonymous 11/57 -
3-169557891-G-A LRRC31 c.1538C>T p.Pro513Leu Missense 9/9 -
12-26839488-C-T ITPR2 c.1074G>A p.Pro358Pro Synonymous 11/57 -
10-14950485-T-C DCLRE1C c.1656A>G p.Leu552Leu Synonymous 13/13 -
8-54147470-G-A OPRK1 c.459C>T p.Ser153Ser Synonymous 3/4 -
19-52469312-G-A ZNF350 c.394C>T p.Arg132Cys Missense 5/5 -
3-100084432-G-A TOMM70 c.1803C>T p.Tyr601Tyr Synonymous 12/12 -
9-36400156-C-T RNF38 c.1-51G>A - 5-UTRSNV 1/12 -
11-1017797-C-A MUC6 c.5004G>T p.Ala1668Ala Synonymous 31/33 -
18-61390518-C-T SERPINB11 c.1064C>T p.Ala355Val Missense 9/9 -
1-173020073-A-T TNFSF18 c.30T>A p.Cys10* Nonsense 1/3 -
11-1017797-C-G MUC6 c.5004G>C p.Ala1668Ala Synonymous 31/33 -
11-1017797-C-T MUC6 c.5004G>A p.Ala1668Ala Synonymous 31/33 -
15-32928808-G-A ARHGAP11A c.1834G>A p.Ala612Thr Missense 12/12 -
13-46543185-A-G ZC3H13 c.3494T>C p.Val1165Ala Missense 14/17 -
1-183079767-G-A LAMC1 c.999G>A p.Ala333Ala Synonymous 4/28 -
11-59211292-C-T OR5A1 c.651C>T p.Leu217Leu Synonymous 1/1 -
12-123983140-C-T RILPL1 c.752G>A p.Arg251Gln Missense 4/7 -
14-75475894-G-A EIF2B2 c.*3G>A - 3-UTRSNV 8/8 -
11-59211292-C-A OR5A1 c.651C>A p.Leu217Leu Synonymous 1/1 -
18-29101156-T-C DSG2 c.473T>C p.Val158Ala Missense 5/15 -
3-124463914-C-T UMPS c.*983C>T - 3-UTRSNV 6/6 -
2-44104728-C-T ABCG8 c.1785C>T p.Phe595Phe Synonymous 12/13 -
18-9887586-G-A TXNDC2 c.909G>A p.Lys303Lys Synonymous 2/2 -
15-48779530-G-C FBN1 c.3442C>G p.Pro1148Ala Missense 28/66 -
7-150028098-A-G LRRC61 c.1-5853A>G - IntronicSNV - 1/1
8-77768390-T-G ZFHX4 c.9233T>G p.Val3078Gly Missense 10/11 -
5-126993282-G-A CTXN3 c.69G>A p.Met23Ile Missense 3/3 -
15-48779530-G-A FBN1 c.3442C>T p.Pro1148Ser Missense 28/66 -
16-27373872-A-G IL4R c.1199A>G p.Glu400Gly Missense 11/11 -
16-27373872-A-T IL4R c.1199A>T p.Glu400Val Missense 11/11 -
10-70405541-A-G TET1 c.3055A>G p.Lys1019Glu Missense 4/12 -
20-34116307-C-T C20orf173 c.555G>A p.Val185Val Synonymous 4/6 -
4-187542094-T-C FAT1 c.5646A>G p.Pro1882Pro Synonymous 10/27 -
7-113518498-C-T PPP1R3A c.2649G>A p.Arg883Arg Synonymous 4/4 -
2-168104627-G-A XIRP2 c.6725G>A p.Arg2242Gln Missense 9/11 -
11-71259822-A-G KRTAP5-9 c.119A>G p.Tyr40Cys Missense 1/1 -
12-50501452-G-A GPD1 c.646G>A p.Ala216Thr Missense 6/8 -
4-100512412-T-C MTTP c.522T>C p.Cys174Cys Synonymous 6/19 -
1-151377407-A-T POGZ c.3945T>A p.Thr1315Thr Synonymous 17/17 -
9-13186355-T-C MPDZ c.2395A>G p.Lys799Glu Missense 18/46 -
X-71428259-A-G ERCC6L c.358T>C p.Leu120Leu Synonymous 2/2 -
1-151377407-A-C POGZ c.3945T>G p.Thr1315Thr Synonymous 17/17 -
12-52790684-C-G KRT82 c.1051G>C p.Glu351Gln Missense 6/9 -
X-73740841-C-T SLC16A2 c.447C>T p.Leu149Leu Synonymous 2/6 -
3-151012541-C-T GPR87 c.493G>A p.Val165Ile Missense 3/3 -
3-148559651-C-T CPB1 c.516C>T p.Asp172Asp Synonymous 6/11 -
1-222898824-G-A BROX c.507G>A p.Ala169Ala Synonymous 7/13 -
11-1092926-C-G MUC2 c.10229C>G - missense_variant 31/51 -
7-7561580-T-A COL28A1 c.715A>T p.Ile239Phe Missense 5/35 -
7-7561580-T-C COL28A1 c.715A>G p.Ile239Val Missense 5/35 -
12-8085689-A-T SLC2A3 c.163T>A p.Ser55Thr Missense 3/10 -
3-148559651-C-A CPB1 c.516C>A p.Asp172Glu Missense 6/11 -
5-34954079-C-G DNAJC21 c.1542C>G p.Val514Val Synonymous 12/13 -
2-152112161-C-T RBM43 c.100G>A p.Val34Ile Missense 2/4 -
8-145139727-C-T GPAA1 c.1113C>T p.Ile371Ile Synonymous 8/12 -
17-74004347-G-A EVPL c.4939C>T p.Arg1647Cys Missense 22/22 -
17-74004347-G-C EVPL c.4939C>G p.Arg1647Gly Missense 22/22 -
8-118552178-C-T MED30 c.498C>T p.Leu166Leu Synonymous 4/4 -
2-190531615-T-A ASNSD1 c.757T>A p.Leu253Met Missense 4/6 -
1-248224618-C-G OR2L3 c.635C>G p.Ala212Gly Missense 1/1 -
19-30192083-A-G C19orf12 c.*1536T>C - 3-UTRSNV 3/3 -
1-100327183-T-C AGL c.207T>C p.Asn69Asn Synonymous 3/34 -
11-68213989-C-G LRP5 c.4574C>G p.Ala1525Gly Missense 22/23 -
6-43017728-C-A CUL7 c.1542G>T p.Gln514His Missense 6/26 -
11-68213989-C-T LRP5 c.4574C>T p.Ala1525Val Missense 22/23 -
6-63990101-G-A LGSN c.1355C>T p.Pro452Leu Missense 4/4 -
21-43547165-G-T UMODL1 c.3343G>T p.Glu1115* Nonsense 19/23 -
1-236192917-C-T NID1 c.1671G>A p.Pro557Pro Synonymous 7/20 -
21-43547165-G-A UMODL1 c.3343G>A p.Glu1115Lys Missense 19/23 -
17-41256279-C-A BRCA1 c.302-1G>T - IntronicSNV - 5/22
10-91190560-T-C SLC16A12 c.*2261A>G - 3-UTRSNV 8/8 -
9-124072992-G-A GSN c.535G>A p.Val179Met Missense 4/17 -
3-142281353-C-T ATR c.891G>A p.Lys297Lys Synonymous 4/47 -
8-144994908-C-A PLEC c.9162G>T p.Ala3054Ala Synonymous 33/33 -
3-142281353-C-G ATR c.891G>C p.Lys297Asn Missense 4/47 -
7-129098165-G-A STRIP2 c.1148G>A p.Arg383Gln Missense 10/20 -
8-144994908-C-T PLEC c.9162G>A p.Ala3054Ala Synonymous 33/33 -
8-144994908-C-G PLEC c.9162G>C p.Ala3054Ala Synonymous 33/33 -
14-105180903-C-T INF2 c.3404C>T p.Thr1135Met Missense 21/23 -
7-130368464-G-T TSGA13 c.70C>A p.Arg24Ser Missense 3/8 -
9-137686951-G-C COL5A1 c.2724G>C p.Pro908Pro Synonymous 33/66 -
9-137686951-G-A COL5A1 c.2724G>A p.Pro908Pro Synonymous 33/66 -
7-130368464-G-A TSGA13 c.70C>T p.Arg24Cys Missense 3/8 -
16-66975712-G-A CES2 c.1098G>A - synonymous_variant 8/12 -
2-1459895-C-T TPO c.660C>T p.Val220Val Synonymous 7/17 -
5-172396450-G-A RPL26L1 c.344G>A p.Arg115Gln Missense 4/4 -
12-51753017-C-T GALNT6 c.1267G>A p.Val423Ile Missense 8/12 -
2-71827854-G-A DYSF c.3725G>A p.Arg1242His Missense 34/55 -
7-100349902-C-G ZAN c.2174C>G p.Thr725Ser Missense 14/49 -
16-2821525-G-C ELOB c.*466C>G - 3-UTRSNV 4/4 -
4-104004073-C-A BDH2 c.546G>T p.Thr182Thr Synonymous 8/10 -
4-104004073-C-T BDH2 c.546G>A p.Thr182Thr Synonymous 8/10 -
2-160086395-A-C TANC1 c.*266A>C - 3-UTRSNV 27/27 -
1-43613649-G-A FAM183A c.27G>A p.Val9Val Synonymous 1/4 -
6-119341191-G-A FAM184A c.1284C>T p.Thr428Thr Synonymous 4/18 -
7-133979711-G-A SLC35B4 c.870C>T p.Asn290Asn Synonymous 10/10 -
8-121290743-A-G COL14A1 c.3407A>G p.Lys1136Arg Missense 28/48 -
6-117860508-A-G DCBLD1 c.1067A>G p.Lys356Arg Missense 9/15 -
14-23874494-C-T MYH6 c.440G>A p.Arg147Lys Missense 5/39 -
19-48525466-C-T ELSPBP1 c.554C>T p.Pro185Leu Missense 6/7 -
12-98928103-C-T TMPO c.2068C>T p.Arg690Cys Missense 4/4 -
3-158408032-G-A GFM1 c.1990G>A p.Val664Ile Missense 16/18 -
13-96743538-A-C HS6ST3 c.422A>C p.Asn141Thr Missense 1/2 -
13-96743538-A-G HS6ST3 c.422A>G p.Asn141Ser Missense 1/2 -
5-132232433-T-C AFF4 c.1889A>G p.Tyr630Cys Missense 11/21 -
20-9404475-G-A PLCB4 c.2364G>A p.Pro788Pro Synonymous 24/36 -
1-220162004-C-G EPRS c.2703G>C p.Ala901Ala Synonymous 19/32 -
1-220162004-C-T EPRS c.2703G>A p.Ala901Ala Synonymous 19/32 -
11-1093368-G-A MUC2 c.12603G>A - synonymous_variant 32/51 -
5-137522945-C-T KIF20A c.2516C>T p.Pro839Leu Missense 19/19 -
6-21065449-C-G CDKAL1 c.1226C>G p.Pro409Arg Missense 12/16 -
6-129813508-T-A LAMA2 c.8124T>A p.Gly2708Gly Synonymous 58/65 -
6-129813508-T-C LAMA2 c.8124T>C p.Gly2708Gly Synonymous 58/65 -
15-51975585-C-T SCG3 c.351C>T p.Ile117Ile Synonymous 4/12 -
15-51975585-C-A SCG3 c.351C>A p.Ile117Ile Synonymous 4/12 -
1-184006362-C-G COLGALT2 c.130G>C p.Val44Leu Missense 1/12 -
9-35092480-T-G PIGO c.1404A>C p.Ala468Ala Synonymous 7/11 -
15-83455845-C-T FSD2 c.298G>A p.Val100Ile Missense 2/13 -
5-126140540-G-A LMNB1 c.432G>A p.Ser144Ser Synonymous 2/11 -
6-21065449-C-T CDKAL1 c.1226C>T p.Pro409Leu Missense 12/16 -
8-68396044-C-T CPA6 c.797G>A p.Arg266His Missense 8/11 -
6-21065449-C-A CDKAL1 c.1226C>A p.Pro409Gln Missense 12/16 -
1-92146589-C-G TGFBR3 c.*2707G>C - 3-UTRSNV 17/17 -
15-52901487-T-C FAM214A c.1624A>G p.Ile542Val Missense 6/13 -
1-33474637-G-A AK2 c.*4145C>T - IntergenicSNV 6/6 -
6-35426175-C-T FANCE c.1071C>T p.Leu357Leu Synonymous 5/10 -
16-23847583-G-A PRKCB c.87G>A p.Lys29Lys Synonymous 1/17 -
1-152883163-A-T IVL c.890A>T p.Asp297Val Missense 2/2 -
7-104782648-T-C SRPK2 c.1317A>G p.Pro439Pro Synonymous 10/15 -
6-39872504-C-A DAAM2 c.*2691C>A - 3-UTRSNV 25/25 -
6-39872504-C-T DAAM2 c.*2691C>T - 3-UTRSNV 25/25 -
8-101008701-C-T RGS22 c.3007G>A p.Gly1003Arg Missense 20/28 -
5-149265875-G-A PDE6A c.1791C>T p.Phe597Phe Synonymous 14/22 -
15-90167139-G-A TICRR c.3598G>A p.Gly1200Ser Missense 20/22 -
1-248367014-T-C OR2M3 c.645T>C p.Ile215Ile Synonymous 1/1 -
1-248367014-T-G OR2M3 c.645T>G p.Ile215Met Missense 1/1 -
17-37682394-G-A CDK12 c.3585G>A p.Thr1195Thr Synonymous 13/14 -
5-64878891-G-C PPWD1 c.1377G>C p.Thr459Thr Synonymous 8/11 -
1-154574541-G-T ADAR c.577C>A p.Pro193Thr Missense 2/15 -
6-112671258-C-T RFPL4B c.348C>T p.Ser116Ser Synonymous 3/3 -
12-106820975-C-T POLR3B c.1102C>T p.Leu368Phe Missense 13/28 -
17-47915959-G-A TAC4 c.*45C>T - 3-UTRSNV 5/5 -
17-47915959-G-C TAC4 c.*45C>G - 3-UTRSNV 5/5 -
8-102555474-A-G GRHL2 c.26A>G p.Lys9Arg Missense 2/16 -
8-102555474-A-T GRHL2 c.26A>T p.Lys9Ile Missense 2/16 -
1-151215011-A-G PIP5K1A c.1569A>G p.Leu523Leu Synonymous 13/15 -
18-55274688-C-T NARS c.789G>A p.Arg263Arg Synonymous 8/14 -
7-83016312-T-A SEMA3E c.1722A>T p.Gly574Gly Synonymous 15/17 -
6-43581765-T-C POLH c.1613T>C p.Leu538Pro Missense 11/11 -
11-17418752-C-T ABCC8 c.3976G>A p.Glu1326Lys Missense 32/39 -
2-212289001-G-C ERBB4 c.2745C>G p.Thr915Thr Synonymous 23/27 -
11-9830600-G-C SBF2 c.4156-51C>G - IntronicSNV - 30/39
5-86564716-C-T RASA1 c.448C>T p.Leu150Phe Missense 1/25 -
5-7900220-A-G MTRR c.*49A>G - 3-UTRSNV 15/15 -
18-21438686-C-T LAMA3 c.4315C>T p.Arg1439* Nonsense 34/75 -
19-39669105-G-A PAK4 c.1662G>A p.Val554Val Synonymous 11/11 -
5-169509815-G-T DOCK2 c.5446G>T p.Ala1816Ser Missense 52/52 -
4-88537450-C-A DSPP c.3636C>A p.Asp1212Glu Missense 5/5 -
4-88537450-C-T DSPP c.3636C>T p.Asp1212Asp Synonymous 5/5 -
7-117199709-G-A CFTR c.1584G>A p.Glu528Glu Synonymous 11/27 -
7-117199709-G-T CFTR c.1584G>T p.Glu528Asp Missense 11/27 -
8-101727792-C-T PABPC1 c.541G>A p.Ala181Thr Missense 4/15 -
7-117199709-G-C CFTR c.1584G>C p.Glu528Asp Missense 11/27 -
12-94642023-C-T PLXNC1 c.2613C>T p.Asn871Asn Synonymous 14/31 -
16-31470646-A-C ARMC5 c.1-200A>C - 5-UTRSNV 1/4 -
20-19956311-G-A RIN2 c.1789G>A p.Val597Met Missense 8/12 -
6-36936606-T-C MTCH1 c.*73A>G - 3-UTRSNV 12/12 -
20-19956311-G-C RIN2 c.1789G>C p.Val597Leu Missense 8/12 -
20-19956311-G-T RIN2 c.1789G>T p.Val597Leu Missense 8/12 -
X-100653420-C-T GLA c.937G>A p.Asp313Asn Missense 6/7 -
20-41076932-C-G PTPRT c.1488G>C p.Gly496Gly Synonymous 9/31 -
7-82785132-T-C PCLO c.825A>G p.Gln275Gln Synonymous 2/20 -
X-100653420-C-A GLA c.937G>T p.Asp313Tyr Missense 6/7 -
11-87032607-A-G TMEM135 c.*232A>G - 3-UTRSNV 15/15 -
2-1093917-C-T SNTG2 c.246C>T p.Gly82Gly Synonymous 3/17 -
19-14674811-C-T TECR c.285C>T p.Tyr95Tyr Synonymous 6/13 -
10-79797043-A-G RPS24 c.371A>G p.Asn124Ser Missense 4/5 -
5-76332468-G-T AGGF1 c.604G>T p.Val202Leu Missense 4/14 -
11-59245593-G-T OR4D10 c.691G>T p.Glu231* Nonsense 1/1 -
19-57839518-A-G ZNF543 c.688A>G p.Thr230Ala Missense 4/4 -
20-36989391-G-A LBP c.622G>A p.Asp208Asn Missense 6/15 -
5-121356402-G-C SRFBP1 c.972G>C p.Gly324Gly Synonymous 6/8 -
2-43927538-C-A PLEKHH2 c.1441C>A p.Pro481Thr Missense 8/30 -
6-90577547-C-G CASP8AP2 c.4538C>G p.Thr1513Arg Missense 8/10 -
6-90577547-C-A CASP8AP2 c.4538C>A p.Thr1513Lys Missense 8/10 -
8-121463265-T-C MTBP c.222T>C p.Pro74Pro Synonymous 3/22 -
16-48117659-A-T ABCC12 c.4047T>A p.Phe1349Leu Missense 29/29 -
12-21919425-G-A KCNJ8 c.507C>T p.Ile169Ile Synonymous 3/3 -
16-69726254-G-A NFAT5 c.2244G>A p.Glu748Glu Synonymous 14/16 -
2-234405421-C-T USP40 c.2770G>A - missense_variant 23/31 -
10-33502357-G-A NRP1 c.1571C>T p.Ser524Leu Missense 9/12 -
1-165634336-C-T ALDH9A1 c.1381G>A p.Glu461Lys Missense 10/11 -
11-9321173-A-G TMEM41B c.197T>C p.Phe66Ser Missense 2/3 -
16-89238215-C-A CDH15 c.1-25C>A - 5-UTRSNV 1/14 -
1-151735594-T-A MRPL9 c.182A>T p.Lys61Met Missense 2/7 -
1-112999000-G-A CTTNBP2NL c.886G>A p.Val296Met Missense 6/6 -
7-56087399-G-A PSPH c.169C>T p.Pro57Ser Missense 5/8 -
14-51372238-T-A PYGL c.2416A>T p.Ile806Leu Missense 20/20 -
11-5758386-C-T OR56B1 c.640C>T p.Leu214Phe Missense 1/1 -
5-72874636-A-G UTP15 c.1105A>G p.Lys369Glu Missense 10/13 -
13-32776153-T-C FRY c.3822T>C p.Tyr1274Tyr Synonymous 30/61 -
2-135206340-C-A MGAT5 c.2148C>A p.Ala716Ala Synonymous 16/16 -
3-33431826-C-T UBP1 c.1620G>A p.Lys540Lys Synonymous 16/16 -
2-210559865-G-A MAP2 c.455-5136G>A - IntronicSNV - 7/14
6-44270805-C-T AARS2 c.2253G>A p.Gly751Gly Synonymous 16/22 -
8-99162823-G-C POP1 c.2013G>C p.Leu671Leu Synonymous 14/16 -
13-115090931-C-G CHAMP1 c.1614C>G p.Ala538Ala Synonymous 3/3 -
6-90577547-C-T CASP8AP2 c.4538C>T p.Thr1513Ile Missense 8/10 -
9-97329625-C-T FBP2 c.632G>A p.Ser211Asn Missense 5/7 -
2-186654051-A-T FSIP2 c.2455A>T p.Thr819Ser Missense 16/23 -
1-33476404-T-G AK2 c.*2378A>C - IntergenicSNV 6/6 -
14-45711535-T-G MIS18BP1 c.845A>C p.Asn282Thr Missense 4/17 -
12-6948528-T-C P3H3 c.2111T>C - missense_variant 16/16 -
1-155932847-G-A ARHGEF2 c.768C>T p.Asp256Asp Synonymous 8/22 -
7-73122977-G-A STX1A c.150C>T p.Asn50Asn Synonymous 3/10 -
X-122338337-A-G GRIA3 c.267+18495A>G - intron_variant - 2/15
5-149245754-A-G PDE6A c.2337T>C p.Phe779Phe Synonymous 20/22 -
6-117642457-G-A ROS1 c.5742C>T p.Ala1914Ala Synonymous 35/43 -
11-102584528-A-G MMP8 c.1251T>C p.Phe417Phe Synonymous 9/10 -
7-128495338-C-T FLNC c.7122C>T p.Asp2374Asp Synonymous 42/47 -
1-151341570-C-T SELENBP1 c.174+348G>A - IntronicSNV - 3/10
6-84884494-T-C CEP162 c.1977A>G p.Glu659Glu Synonymous 15/27 -
8-13357316-C-T DLC1 c.265G>A p.Asp89Asn Missense 2/18 -
8-122626691-G-A HAS2 c.1317C>T p.Tyr439Tyr Synonymous 4/4 -
7-128495338-C-A FLNC c.7122C>A p.Asp2374Glu Missense 42/47 -
1-228547913-G-A OBSCN c.19320G>A p.Thr6440Thr Synonymous 81/81 -
1-147091416-G-A BCL9 c.1455G>A p.Arg485Arg Synonymous 8/10 -
1-212792903-C-T ATF3 c.*6C>T - 3-UTRSNV 4/4 -
14-103369593-G-A TRAF3 c.962G>A p.Arg321Gln Missense 11/12 -
X-123047668-G-C XIAP c.*6637G>C - 3-UTRSNV 7/7 -
1-228547913-G-T OBSCN c.19320G>T p.Thr6440Thr Synonymous 81/81 -
1-152882512-A-G IVL c.239A>G p.Lys80Arg Missense 2/2 -
10-14939067-A-C SUV39H2 c.220A>C p.Arg74Arg Synonymous 2/5 -
9-5921028-G-A KIAA2026 c.4968C>T p.Thr1656Thr Synonymous 8/8 -
19-3909541-G-C ATCAY c.705G>C p.Leu235Leu Synonymous 7/13 -
9-136650966-C-T VAV2 c.1464G>A p.Gln488Gln Synonymous 17/30 -
10-50872912-C-T CHAT c.2067C>T p.Ile689Ile Synonymous 15/15 -
2-85133216-G-A TMSB10 c.75G>A p.Glu25Glu Synonymous 2/3 -
2-85133216-G-C TMSB10 c.75G>C p.Glu25Asp Missense 2/3 -
4-169842814-C-T PALLD c.2929C>T p.Arg977Cys Missense 17/21 -
3-169492236-G-A MYNN c.153G>A p.Ala51Ala Synonymous 2/8 -
1-979583-G-A AGRN c.2094G>A p.Ser698Ser Synonymous 11/36 -
11-1093273-T-C MUC2 c.12508T>C - synonymous_variant 32/51 -
11-1093273-T-A MUC2 c.12508T>A - missense_variant 32/51 -
11-1093273-T-G MUC2 c.12508T>G - missense_variant 32/51 -
12-131311786-T-C STX2 c.57A>G p.Thr19Thr Synonymous 2/11 -
12-20801798-T-C PDE3A c.2742T>C p.Phe914Phe Synonymous 13/16 -
2-109392302-A-G RANBP2 c.8407A>G p.Ile2803Val Missense 24/29 -
15-71128691-G-A LARP6 c.354C>T p.His118His Synonymous 2/3 -
5-55206398-G-A IL31RA c.1540G>A p.Glu514Lys Missense 12/15 -
14-65241867-G-T SPTB c.4818C>A p.Tyr1606* Nonsense 22/35 -
8-99779588-C-T STK3 c.119G>A p.Ser40Asn Missense 3/11 -
8-139672708-G-C COL22A1 c.3256C>G p.Pro1086Ala Missense 44/65 -
7-123336722-G-A WASL c.540C>T p.Asn180Asn Synonymous 6/11 -
11-56086258-T-C OR8K3 c.476T>C p.Val159Ala Missense 1/1 -
6-35911856-G-A SLC26A8 c.2734C>T p.Pro912Ser Missense 20/20 -
20-44506208-G-A ZSWIM3 c.1011G>A p.Glu337Glu Synonymous 2/2 -
10-61828954-G-A ANK3 c.11685C>T p.Ser3895Ser Synonymous 37/44 -
22-43471583-T-C TTLL1 c.10A>G p.Lys4Glu Missense 3/11 -
2-189862995-T-C COL3A1 c.1927T>C p.Leu643Leu Synonymous 28/51 -
14-105404593-G-C AHNAK2 c.17195C>G p.Thr5732Arg Missense 7/7 -
17-73830188-C-T UNC13D c.2335G>A p.Val779Met Missense 24/32 -
10-68857397-T-G LRRTM3 c.1589T>G p.Ile530Arg Missense 3/3 -
8-19363304-C-T CSGALNACT1 c.42G>A p.Arg14Arg Synonymous 4/10 -
8-19363304-C-A CSGALNACT1 c.42G>T p.Arg14Arg Synonymous 4/10 -
1-119575818-C-G WARS2 c.799G>C p.Ala267Pro Missense 6/6 -
7-99700378-C-T AP4M1 c.228C>T p.Pro76Pro Synonymous 3/15 -
6-18264096-C-G DEK c.123G>C p.Glu41Asp Missense 2/10 -
3-159713243-C-T IL12A c.659C>T p.Pro220Leu Missense 7/7 -
1-217604632-G-T GPATCH2 c.1442C>A p.Thr481Lys Missense 10/10 -
19-52824977-C-G ZNF480 c.474C>G p.Ile158Met Missense 5/5 -
16-89985778-G-A MC1R c.112G>A p.Val38Met Missense 1/1 -
1-94032937-T-C BCAR3 c.2198A>G p.Asn733Ser Missense 13/14 -
12-7169209-C-T C1S c.1-8C>T - 5-UTRSNV 2/12 -
17-38643441-C-T TNS4 c.1135G>A p.Gly379Ser Missense 4/13 -
7-56087409-G-A PSPH c.159C>T p.Gly53Gly Synonymous 5/8 -
5-33963870-C-T SLC45A2 c.814G>A p.Glu272Lys Missense 3/7 -
9-129957451-C-A RALGPS1 c.992C>A p.Thr331Lys Missense 12/19 -
3-171406501-G-A PLD1 c.1504C>T p.Arg502Trp Missense 14/27 -
2-15470848-C-T NBAS c.4221G>A p.Leu1407Leu Synonymous 36/52 -
8-144994916-C-T PLEC c.9154G>A p.Val3052Ile Missense 33/33 -
5-64878891-G-T PPWD1 c.1377G>T p.Thr459Thr Synonymous 8/11 -
5-64878891-G-A PPWD1 c.1377G>A p.Thr459Thr Synonymous 8/11 -
20-41076932-C-T PTPRT c.1488G>A p.Gly496Gly Synonymous 9/31 -
15-70959576-C-T UACA c.3408G>A p.Val1136Val Synonymous 16/19 -
1-245849729-G-A KIF26B c.3444G>A p.Pro1148Pro Synonymous 12/15 -
20-41076932-C-A PTPRT c.1488G>T p.Gly496Gly Synonymous 9/31 -
11-18044410-A-G TPH1 c.1095T>C p.Leu365Leu Synonymous 10/11 -
2-37032684-G-C VIT c.1221G>C p.Thr407Thr Synonymous 13/15 -
2-37032684-G-A VIT c.1221G>A p.Thr407Thr Synonymous 13/15 -
9-100367813-A-G TSTD2 c.1065T>C p.Cys355Cys Synonymous 8/10 -
16-20999097-G-A DNAH3 c.6800C>T p.Ser2267Leu Missense 46/62 -
16-20999097-G-C DNAH3 c.6800C>G p.Ser2267Trp Missense 46/62 -
1-160169664-G-A CASQ1 c.1008G>A p.Thr336Thr Synonymous 10/11 -
12-10978248-C-T TAS2R10 c.621G>A p.Met207Ile Missense 1/1 -
11-77812084-T-C ALG8 c.1507A>G p.Ile503Val Missense 13/13 -
10-132891465-C-A TCERG1L c.1721G>T p.Arg574Leu Missense 12/12 -
1-217955575-G-A SPATA17 c.783G>A p.Thr261Thr Synonymous 8/11 -
9-5358285-A-G PLGRKT c.398T>C p.Ile133Thr Missense 6/6 -
20-44141400-A-G SPINT3 c.161T>C p.Phe54Ser Missense 2/2 -
11-20959394-C-T NELL1 c.1060C>T p.Arg354Trp Missense 10/20 -
11-56380774-C-G OR5M1 c.205G>C p.Val69Leu Missense 1/1 -
11-56380774-C-A OR5M1 c.205G>T p.Val69Leu Missense 1/1 -
7-73122977-G-C STX1A c.150C>G p.Asn50Lys Missense 3/10 -
22-50659298-C-T TUBGCP6 c.3490G>A p.Val1164Met Missense 16/25 -
2-21237971-G-A APOB c.3670C>T p.Arg1224Trp Missense 23/29 -
8-134042112-G-T TG c.7083G>T p.Ala2361Ala Synonymous 41/48 -
16-23391887-G-A SCNN1B c.1688G>A p.Arg563Gln Missense 13/13 -
1-78183670-G-T USP33 c.1893C>A p.Thr631Thr Synonymous 18/25 -
1-217604632-G-A GPATCH2 c.1442C>T p.Thr481Met Missense 10/10 -
7-883105-C-T SUN1 c.456C>T p.Pro152Pro Synonymous 5/18 -
9-129957451-C-T RALGPS1 c.992C>T p.Thr331Ile Missense 12/19 -
9-79971671-G-A VPS13A c.7694G>A p.Arg2565Lys Missense 55/69 -
21-33246096-C-T HUNK c.109C>T p.Leu37Leu Synonymous 1/11 -
16-2548257-C-T TBC1D24 c.984C>T p.Ala328Ala Synonymous 3/7 -
16-67469969-G-T HSD11B2 c.588G>T p.Ala196Ala Synonymous 3/5 -
5-89981639-C-T ADGRV1 c.6317C>T p.Ala2106Val Missense 29/90 -
16-67469969-G-A HSD11B2 c.588G>A p.Ala196Ala Synonymous 3/5 -
3-128631481-G-A ACAD9 c.*31G>A - 3-UTRSNV 18/18 -
12-126138386-C-T TMEM132B c.2367C>T p.Phe789Phe Synonymous 9/9 -
12-126138386-C-A TMEM132B c.2367C>A p.Phe789Leu Missense 9/9 -
1-182617348-G-T RGS8 c.338C>A p.Thr113Asn Missense 5/6 -
1-182617348-G-A RGS8 c.338C>T p.Thr113Ile Missense 5/6 -
1-94884006-C-G ABCD3 c.1-29C>G - 5-UTRSNV 1/23 -
1-94884006-C-T ABCD3 c.1-29C>T - 5-UTRSNV 1/23 -
20-57599787-T-C TUBB1 c.1305T>C p.Asp435Asp Synonymous 4/4 -
6-111694124-C-T REV3L c.5434G>A p.Asp1812Asn Missense 14/33 -
6-111694124-C-G REV3L c.5434G>C p.Asp1812His Missense 14/33 -
6-111694124-C-A REV3L c.5434G>T p.Asp1812Tyr Missense 14/33 -
12-62946739-A-G MON2 c.2995A>G p.Lys999Glu Missense 24/35 -
9-93641151-T-C SYK c.1428T>C p.Asn476Asn Synonymous 10/13 -
19-38990593-C-T RYR1 c.7260C>T p.His2420His Synonymous 45/106 -
12-62946739-A-C MON2 c.2995A>C p.Lys999Gln Missense 24/35 -
2-152112161-C-G RBM43 c.100G>C p.Val34Leu Missense 2/4 -
4-187208860-G-A F11 c.1599G>A p.Gln533Gln Synonymous 14/15 -
4-155505888-G-A FGA c.1989C>T p.Cys663Cys Synonymous 6/6 -
17-73485707-G-A TMEM94 c.918G>A p.Gly306Gly Synonymous 9/32 -
1-54637048-T-C CYB5RL c.*3244A>G - IntergenicSNV 8/8 -
17-35295663-C-A LHX1 c.169C>A p.Arg57Arg Synonymous 1/5 -
19-33467426-C-A FAAP24 c.486C>A p.Thr162Thr Synonymous 5/5 -
19-33467426-C-T FAAP24 c.486C>T p.Thr162Thr Synonymous 5/5 -
4-141386106-T-C MGAT4D c.630A>G p.Leu210Leu Synonymous 6/11 -
11-5878836-T-A OR52E8 c.97A>T p.Ile33Phe Missense 1/1 -
14-53619369-C-A DDHD1 c.448G>T p.Gly150Cys Missense 1/13 -
6-161022107-C-A LPA c.2969G>T p.Arg990Leu Missense 19/39 -
3-196865191-G-A DLG1 c.884C>T p.Ala295Val Missense 10/26 -
2-44170849-T-C LRPPRC c.2481A>G p.Pro827Pro Synonymous 23/38 -
19-58565162-G-A ZSCAN1 c.970G>A p.Glu324Lys Missense 6/6 -
1-155160813-G-A MUC1 c.160-52C>T - IntronicSNV - 2/7
18-47566678-C-G MYO5B c.145G>C p.Glu49Gln Missense 3/40 -
1-33475650-T-C AK2 c.*3132A>G - IntergenicSNV 6/6 -
1-153279596-C-T PGLYRP3 c.203G>A p.Arg68Gln Missense 2/7 -
1-109241916-G-C PRPF38B c.915G>C p.Glu305Asp Missense 6/6 -
1-109241916-G-A PRPF38B c.915G>A p.Glu305Glu Synonymous 6/6 -
1-85029489-T-C CTBS c.724A>G p.Ile242Val Missense 5/7 -
11-1092884-C-T MUC2 c.10187C>T - missense_variant 31/51 -
8-25280706-C-G GNRH1 c.141G>C p.Glu47Asp Missense 2/4 -
8-101717237-C-T PABPC1 c.1735G>A p.Gly579Ser Missense 13/15 -
1-155160813-G-C MUC1 c.160-52C>G - IntronicSNV - 2/7
9-124461666-C-T DAB2IP c.207C>T p.Asp69Asp Synonymous 3/17 -
16-3349432-T-C TIGD7 c.1183A>G p.Ile395Val Missense 2/2 -
9-124461666-C-G DAB2IP c.207C>G p.Asp69Glu Missense 3/17 -
6-38820493-C-A DNAH8 c.5490C>A p.Asp1830Glu Missense 40/93 -
20-36641871-G-A TTI1 c.348C>T p.Ser116Ser Synonymous 3/9 -
16-3349432-T-A TIGD7 c.1183A>T p.Ile395Leu Missense 2/2 -
7-5417609-G-T TNRC18 c.2199C>A p.His733Gln Missense 6/30 -
12-50400300-C-T RACGAP1 c.205G>A p.Asp69Asn Missense 5/19 -
6-14131854-A-G CD83 c.257A>G p.Asn86Ser Missense 3/5 -
7-56087365-A-G PSPH c.203T>C p.Leu68Pro Missense 5/8 -
7-5417609-G-C TNRC18 c.2199C>G p.His733Gln Missense 6/30 -
1-236702374-G-A LGALS8 c.330G>A p.Leu110Leu Synonymous 5/12 -
7-73010754-C-T MLXIPL c.1878G>A p.Leu626Leu Synonymous 12/17 -
16-55719143-G-A SLC6A2 c.733G>A p.Val245Ile Missense 4/14 -
20-55111364-A-C FAM209B c.386A>C p.Glu129Ala Missense 2/2 -
16-2143865-G-T PKD1 c.10765C>A p.Leu3589Met Missense 36/46 -
16-2143865-G-A PKD1 c.10765C>T p.Leu3589Leu Synonymous 36/46 -
2-168107155-G-A XIRP2 c.9253G>A p.Ala3085Thr Missense 9/11 -
12-7015707-G-A LRRC23 c.371G>A p.Arg124Gln Missense 4/7 -
7-100612969-A-G MUC12 c.66A>G p.Pro22Pro Synonymous 1/12 -
7-100612969-A-T MUC12 c.66A>T p.Pro22Pro Synonymous 1/12 -
3-10401619-G-A ATP2B2 c.1713C>T p.Pro571Pro Synonymous 10/20 -
20-58467393-A-G SYCP2 c.2016T>C p.Tyr672Tyr Synonymous 24/45 -
8-124359419-G-A ATAD2 c.2125C>T p.Leu709Leu Synonymous 16/28 -
19-56249615-G-C NLRP9 c.126C>G p.Ile42Met Missense 1/9 -
12-7015707-G-C LRRC23 c.371G>C p.Arg124Pro Missense 4/7 -
22-46724731-C-G GTSE1 c.1871C>G p.Ala624Gly Missense 10/12 -
7-123599845-A-T SPAM1 c.1352A>T p.Asp451Val Missense 5/5 -
6-43484532-G-A YIPF3 c.14C>T p.Ala5Val Missense 1/9 -
13-46942355-C-A RUBCNL c.648G>T p.Met216Ile Missense 5/15 -
19-56249615-G-A NLRP9 c.126C>T p.Ile42Ile Synonymous 1/9 -
3-122103141-C-T FAM162A c.29C>T p.Ala10Val Missense 1/5 -
11-4406662-G-A TRIM21 c.1281C>T p.Gly427Gly Synonymous 7/7 -
1-204412588-T-C PIK3C2B c.3005A>G p.Lys1002Arg Missense 20/34 -
1-192627431-G-A RGS13 c.228G>A p.Arg76Arg Synonymous 6/7 -
16-338189-C-T AXIN1 c.2522G>A p.Arg841Gln Missense 11/11 -
20-2618182-G-A TMC2 c.2448G>A p.Glu816Glu Synonymous 19/20 -
X-17745057-A-T NHS c.2768A>T p.His923Leu Missense 6/8 -
2-88876094-C-T EIF2AK3 c.2014G>A p.Glu672Lys Missense 12/17 -
12-20893259-A-G SLCO1C1 c.1690A>G p.Thr564Ala Missense 12/15 -
4-71347422-G-A MUC7 c.961G>A p.Asp321Asn Missense 3/3 -
3-128627887-G-A ACAD9 c.1430G>A p.Arg477Gln Missense 14/18 -
19-15164439-C-T CASP14 c.174C>T p.Ala58Ala Synonymous 3/7 -
5-158743788-C-A IL12B c.892G>T p.Val298Phe Missense 7/8 -
7-113519433-T-C PPP1R3A c.1714A>G p.Ile572Val Missense 4/4 -
X-50089734-C-T CCNB3 c.3738C>T p.Ile1246Ile Synonymous 10/13 -
20-61542239-C-T DIDO1 c.726G>A p.Ala242Ala Synonymous 3/6 -
5-138732757-A-G SPATA24 c.461T>C p.Val154Ala Missense 5/6 -
1-120054192-G-T HSD3B1 c.212G>T p.Arg71Ile Missense 3/4 -
2-135744007-T-C MAP3K19 c.2435A>G p.Glu812Gly Missense 7/10 -
1-242045283-T-A EXO1 c.2175T>A p.Ser725Ser Synonymous 12/14 -
19-681478-C-T FSTL3 c.651C>T p.Thr217Thr Synonymous 4/5 -
1-55464869-G-C BSND c.10G>C p.Glu4Gln Missense 1/4 -
12-124092033-G-C DDX55 c.301G>C p.Val101Leu Missense 4/14 -
2-96943433-G-C SNRNP200 c.5775C>G p.Ala1925Ala Synonymous 41/45 -
5-44388594-C-A FGF10 c.191G>T p.Gly64Val Missense 1/3 -
8-17849147-C-T PCM1 c.4628C>T p.Thr1543Ile Missense 28/39 -
8-100865682-G-T VPS13B c.10140G>T p.Ala3380Ala Synonymous 56/62 -
17-79993919-C-A DCXR c.646G>T p.Ala216Ser Missense 8/8 -
1-20829761-A-C MUL1 c.162T>G p.Ile54Met Missense 2/4 -
11-123894329-C-A OR10G9 c.610C>A p.Leu204Ile Missense 1/1 -
15-99673019-C-G SYNM c.4451C>G - missense_variant 5/5 -
13-42872716-A-G AKAP11 c.399A>G p.Ser133Ser Synonymous 7/13 -
11-123894329-C-G OR10G9 c.610C>G p.Leu204Val Missense 1/1 -
22-50957115-C-T NCAPH2 c.684C>T p.Ser228Ser Synonymous 8/20 -
21-33074633-A-G SCAF4 c.381T>C p.Ile127Ile Synonymous 5/20 -
2-202122956-T-C CASP8 c.1-8254T>C - IntronicSNV - 2/9
1-179983074-C-T CEP350 c.1486C>T p.Arg496Trp Missense 10/38 -
5-76342325-A-G AGGF1 c.1024A>G p.Ile342Val Missense 6/14 -
19-16758065-C-T SMIM7 c.220G>A p.Gly74Ser Missense 5/5 -
6-34386170-A-C RPS10 c.432T>G p.Ala144Ala Synonymous 5/6 -
15-58833993-G-A LIPC c.283G>A p.Val95Met Missense 3/9 -
5-180485353-G-A BTNL9 c.957G>A p.Glu319Glu Synonymous 10/11 -
1-228437845-C-T OBSCN c.4213C>T p.Arg1405Trp Missense 14/81 -
18-31319905-A-G ASXL3 c.2537A>G p.Lys846Arg Missense 11/12 -
19-39911625-G-T PLEKHG2 c.1436G>T p.Arg479Leu Missense 14/19 -
18-74962810-G-A GALR1 c.306G>A p.Val102Val Synonymous 1/3 -
3-184104864-A-G CHRD c.2316A>G p.Pro772Pro Synonymous 18/23 -
5-149311840-G-A PDE6A c.718-1109C>T - IntronicSNV - 3/21
16-3819262-G-A CREBBP c.2973C>T p.Asp991Asp Synonymous 15/31 -
16-3819262-G-T CREBBP c.2973C>A p.Asp991Glu Missense 15/31 -
21-15524921-C-A LIPI c.1154G>T p.Gly385Val Missense 8/10 -
14-57072338-C-T TMEM260 c.573C>T p.His191His Synonymous 5/16 -
12-26774149-T-C ITPR2 c.3369A>G p.Val1123Val Synonymous 26/57 -
9-116856199-C-T KIF12 c.953G>A p.Arg318His Missense 11/16 -
1-170964609-C-T MROH9 c.1274C>T p.Thr425Met Missense 13/15 -
16-58074526-G-A MMP15 c.834G>A p.Ala278Ala Synonymous 5/10 -
8-105509700-A-G LRP12 c.1080T>C p.Asn360Asn Synonymous 5/7 -
4-119273825-T-C PRSS12 c.51A>G p.Glu17Glu Synonymous 1/13 -
17-63200386-C-T RGS9 c.1170C>T p.Ala390Ala Synonymous 15/19 -
4-48082095-C-T TXK c.1007G>A p.Arg336Gln Missense 11/15 -
10-27322303-C-G ANKRD26 c.3655G>C p.Val1219Leu Missense 25/34 -
6-36262089-C-T PNPLA1 c.342C>T p.His114His Synonymous 4/8 -
1-150418796-C-T RPRD2 c.789C>T p.Asn263Asn Synonymous 7/11 -
1-145075943-C-A PDE4DIP c.1-81G>T - 5-UTRSNV 1/7 -
11-73760413-G-T C2CD3 c.5330C>A p.Ala1777Glu Missense 27/31 -
X-153296697-G-A MECP2 c.582C>T p.Ser194Ser Synonymous 4/4 -
1-235918870-T-G LYST c.7137A>C p.Leu2379Leu Synonymous 25/53 -
20-43118038-C-T TTPAL c.885C>T p.Asp295Asp Synonymous 6/6 -
11-123900916-C-T OR10G8 c.587C>T p.Thr196Ile Missense 1/1 -
3-124467183-G-T UMPS c.*4252G>T - 3-UTRSNV 6/6 -
1-202700960-G-A KDM5B c.4017C>T p.Leu1339Leu Synonymous 24/27 -
10-27827484-A-G RAB18 c.*504A>G - 3-UTRSNV 7/7 -
7-48318613-A-C ABCA13 c.7822A>C p.Ile2608Leu Missense 18/62 -
15-44925740-A-T SPG11 c.1698T>A p.Asp566Glu Missense 8/38 -
15-44925740-A-C SPG11 c.1698T>G p.Asp566Glu Missense 8/38 -
20-61444600-C-T OGFR c.1633C>T p.Arg545Cys Missense 7/7 -
16-47549436-A-G PHKB c.518A>G p.Asn173Ser Missense 6/31 -
17-7123268-A-G ACADVL c.1-36A>G - 5-UTRSNV 1/20 -
20-61444600-C-A OGFR c.1633C>A p.Arg545Ser Missense 7/7 -
3-121973114-C-G CASR c.78C>G p.Ala26Ala Synonymous 2/7 -
3-121973114-C-A CASR c.78C>A p.Ala26Ala Synonymous 2/7 -
2-39240646-C-T SOS1 c.2122G>A p.Ala708Thr Missense 13/23 -
13-23915089-G-A SACS c.2926C>T p.Arg976Cys Missense 10/10 -
13-23915089-G-T SACS c.2926C>A p.Arg976Ser Missense 10/10 -
3-154859855-G-A MME c.1033G>A p.Val345Ile Missense 11/23 -
15-28263554-G-A OCA2 c.796C>T p.Arg266Trp Missense 7/24 -
11-26584692-C-T ANO3 c.1447+3366C>T - IntronicSNV - 14/26
6-116833053-T-C TRAPPC3L c.241-11224A>G - IntronicSNV - 3/4
16-47703131-T-A PHKB c.2433T>A p.Thr811Thr Synonymous 26/31 -
18-21402298-C-A LAMA3 c.2387C>A p.Thr796Asn Missense 20/75 -
2-179477267-T-C TTN c.42281A>G p.Asn14094Ser Missense 215/312 -
12-46591791-C-T SLC38A1 c.1175G>A p.Arg392His Missense 15/17 -
12-46591791-C-A SLC38A1 c.1175G>T p.Arg392Leu Missense 15/17 -
7-89933362-G-T CFAP69 c.2130G>T p.Ala710Ala Synonymous 18/23 -
7-89933362-G-A CFAP69 c.2130G>A p.Ala710Ala Synonymous 18/23 -
1-84945097-G-C RPF1 c.133G>C p.Ala45Pro Missense 1/9 -
1-214814059-T-G CENPF c.2378T>G p.Met793Arg Missense 12/20 -
2-6990069-C-T CMPK2 c.1262G>A p.Gly421Asp Missense 5/5 -
1-149906167-T-G MTMR11 c.384A>C p.Glu128Asp Missense 6/17 -
17-21207838-G-C MAP2K3 c.669G>C p.Met223Ile Missense 8/12 -
12-21069049-G-A SLCO1B3 c.1977G>A p.Ser659Ser Synonymous 16/16 -
3-196842831-A-G DLG1 c.1509T>C p.Ser503Ser Synonymous 14/26 -
17-61574712-G-A ACE c.3906G>A p.Glu1302Glu Synonymous 25/25 -
1-152671385-G-A LCE2A c.8G>A p.Cys3Tyr Missense 2/2 -
9-130587560-G-C ENG c.766C>G p.Pro256Ala Missense 6/14 -
9-130587560-G-A ENG c.766C>T p.Pro256Ser Missense 6/14 -
18-10699087-C-G PIEZO2 c.6191G>C p.Arg2064Thr Missense 40/52 -
22-26423329-T-C MYO18B c.7389T>C p.Gly2463Gly Synonymous 43/44 -
19-56329447-G-A NLRP11 c.94C>T p.Arg32Cys Missense 4/12 -
19-56329447-G-T NLRP11 c.94C>A p.Arg32Ser Missense 4/12 -
X-32717258-A-G DMD c.802T>C p.Leu268Leu Synonymous 8/79 -
9-19786015-C-T SLC24A2 c.850G>A p.Val284Ile Missense 1/10 -
3-156763438-A-G LEKR1 c.1978A>G p.Ile660Val Missense 13/13 -
3-108723983-C-T MORC1 c.1947G>A p.Met649Ile Missense 19/28 -
21-42720579-G-A FAM3B c.546G>A p.Met182Ile Missense 7/8 -
X-32717258-A-C DMD c.802T>G p.Leu268Val Missense 8/79 -
1-207134036-C-T FCAMR c.653-894G>A - IntronicSNV - 5/6
1-158225083-C-T CD1A c.268C>T p.Arg90Cys Missense 2/6 -
4-88537456-C-T DSPP c.3642C>T p.Ser1214Ser Synonymous 5/5 -
6-135716008-T-C AHI1 c.3015A>G p.Ser1005Ser Synonymous 22/28 -
8-87588248-T-C CNGB3 c.2214A>G p.Glu738Glu Synonymous 18/18 -
1-91404792-T-C ZNF644 c.23-21081A>G - IntronicSNV - 2/3
13-96506633-C-T UGGT2 c.4105G>A p.Gly1369Arg Missense 35/39 -
1-65860660-T-C DNAJC6 c.1983T>C p.Ser661Ser Synonymous 13/19 -
10-17088006-T-G CUBN c.3417A>C p.Leu1139Leu Synonymous 24/67 -
8-101717220-C-T PABPC1 c.1752G>A p.Met584Ile Missense 13/15 -
20-52788190-G-T CYP24A1 c.469C>A p.Arg157Arg Synonymous 3/12 -
1-152944534-G-A SPRR4 c.168G>A p.Pro56Pro Synonymous 2/2 -
7-3998588-C-T SDK1 c.1176C>T p.Pro392Pro Synonymous 8/45 -
13-96529571-T-A UGGT2 c.3435A>T p.Leu1145Phe Missense 29/39 -
19-7998386-G-C TIMM44 c.753C>G p.Asn251Lys Missense 7/13 -
14-92088086-C-T CATSPERB c.2126G>A p.Arg709Gln Missense 19/27 -
16-27772821-C-T KIAA0556 c.3719C>T p.Ala1240Val Missense 19/28 -
10-70856963-C-G SRGN c.203C>G p.Pro68Arg Missense 2/3 -
10-70856963-C-T SRGN c.203C>T p.Pro68Leu Missense 2/3 -
1-235938329-A-C LYST c.5518T>G p.Ser1840Ala Missense 18/53 -
4-122068316-T-G TNIP3 c.623A>C p.Glu208Ala Missense 7/11 -
5-137257384-A-G PKD2L2 c.1388A>G p.Asn463Ser Missense 9/14 -
5-118832317-A-G HSD17B4 c.948A>G p.Ala316Ala Synonymous 12/24 -
2-118732831-G-A CCDC93 c.683C>T p.Pro228Leu Missense 9/24 -
8-6299654-T-C MCPH1 c.647T>C p.Ile216Thr Missense 7/14 -
5-118832317-A-C HSD17B4 c.948A>C p.Ala316Ala Synonymous 12/24 -
2-46603764-T-A EPAS1 c.1121T>A p.Phe374Tyr Missense 9/16 -
3-195486123-G-A MUC4 c.14858C>T p.Pro4953Leu Missense 17/25 -
1-43649393-T-C CFAP57 c.606T>C p.Ala202Ala Synonymous 4/11 -
7-116165220-T-C CAV1 c.30+74T>C - IntronicSNV - 1/2
13-41834756-G-A MTRF1 c.288C>T p.Ile96Ile Synonymous 2/10 -
6-43535018-C-T XPO5 c.722G>A p.Ser241Asn Missense 7/32 -
17-19578921-G-A ALDH3A2 c.*36G>A - 3-UTRSNV 10/10 -
14-95085642-C-T SERPINA3 c.754C>T p.Pro252Ser Missense 3/5 -
5-15937010-C-T FBXL7 c.1191C>T p.Leu397Leu Synonymous 4/4 -
7-128450342-A-G CCDC136 c.1950A>G p.Lys650Lys Synonymous 12/18 -
8-101717195-G-C PABPC1 c.1777C>G p.Leu593Val Missense 13/15 -
11-66287196-G-A BBS1 c.700G>A p.Glu234Lys Missense 8/17 -
11-20676319-G-A SLC6A5 c.2299G>A p.Gly767Arg Missense 16/16 -
14-58917309-A-T KIAA0586 c.974A>T p.Glu325Val Missense 8/30 -
8-80976799-C-T TPD52 c.49G>A p.Glu17Lys Missense 2/6 -
1-231155696-G-A FAM89A c.468C>T p.His156His Synonymous 2/2 -
1-231155696-G-T FAM89A c.468C>A p.His156Gln Missense 2/2 -
10-105807846-G-C COL17A1 c.2244C>G p.Asp748Glu Missense 30/56 -
12-50821551-G-T LARP4 c.25G>T p.Ala9Ser Missense 2/16 -
2-179438727-A-G TTN c.64428T>C p.Gly21476Gly Synonymous 275/312 -
20-34773054-G-C EPB41L1 c.582G>C p.Leu194Leu Synonymous 7/22 -
20-34773054-G-A EPB41L1 c.582G>A p.Leu194Leu Synonymous 7/22 -
14-58814423-C-G ARID4A c.1231C>G p.His411Asp Missense 15/23 -
14-58814423-C-A ARID4A c.1231C>A p.His411Asn Missense 15/23 -
20-33519196-C-T GSS c.1054G>A p.Ala352Thr Missense 11/13 -
9-32550912-G-A TOPORS c.58C>T p.Pro20Ser Missense 2/3 -
2-179593352-C-T TTN c.15569G>A p.Ser5190Asn Missense 63/312 -
19-57330037-C-T PEG3 c.703G>A p.Ala235Thr Missense 7/9 -
1-207782769-G-A CR1 c.4681G>A p.Val1561Met Missense 29/39 -
7-116165166-C-T CAV1 c.30+20C>T - IntronicSNV - 1/2
7-116165166-C-G CAV1 c.30+20C>G - IntronicSNV - 1/2
11-67275063-C-T CDK2AP2 c.180G>A p.Gln60Gln Synonymous 2/4 -
6-129635800-G-A LAMA2 c.3412G>A p.Val1138Met Missense 24/65 -
22-38120282-C-T TRIOBP c.1719C>T p.Asp573Asp Synonymous 7/24 -
7-158711439-C-G WDR60 c.1800C>G p.Ala600Ala Synonymous 15/25 -
10-16979593-G-A CUBN c.5924C>T p.Pro1975Leu Missense 39/67 -
10-16979593-G-T CUBN c.5924C>A p.Pro1975Gln Missense 39/67 -
10-115609357-C-T DCLRE1A c.1507G>A p.Ala503Thr Missense 2/9 -
3-197616531-T-C IQCG c.1252A>G p.Met418Val Missense 12/12 -
1-33476032-T-C AK2 c.*2750A>G - IntergenicSNV 6/6 -
14-76644266-C-T GPATCH2L c.1053-65C>T - IntronicSNV - 6/9
2-37579971-C-A QPCT c.160C>A p.Arg54Arg Synonymous 2/7 -
2-37579971-C-T QPCT c.160C>T p.Arg54Trp Missense 2/7 -
2-100020945-C-T REV1 c.3007G>A p.Ala1003Thr Missense 18/23 -
12-7021957-G-T LRRC23 c.759-1098G>T - IntronicSNV - 6/6
8-90802491-A-G RIPK2 c.1470A>G p.Leu490Leu Synonymous 11/11 -
7-158711439-C-T WDR60 c.1800C>T p.Ala600Ala Synonymous 15/25 -
10-115609357-C-A DCLRE1A c.1507G>T p.Ala503Ser Missense 2/9 -
7-133868568-C-T LRGUK c.1297C>T p.Arg433Cys Missense 11/20 -
11-123894317-G-T OR10G9 c.598G>T p.Val200Leu Missense 1/1 -
3-105404298-C-G CBLB c.2067G>C p.Pro689Pro Synonymous 14/19 -
3-105404298-C-T CBLB c.2067G>A p.Pro689Pro Synonymous 14/19 -
8-113299353-A-G CSMD3 c.8764T>C p.Ser2922Pro Missense 56/69 -
1-223949936-G-C CAPN2 c.1615G>C p.Ala539Pro Missense 14/21 -
12-50385805-T-C RACGAP1 c.1690A>G p.Thr564Ala Missense 17/19 -
9-123215959-C-T CDK5RAP2 c.2568G>A p.Gln856Gln Synonymous 21/38 -
1-171510055-A-G PRRC2C c.3444A>G p.Ile1148Met Missense 16/34 -
9-140005147-G-T DPP7 c.1432C>A p.Arg478Ser Missense 13/13 -
3-155524015-G-A C3orf33 c.-230C>T - 5_prime_UTR_variant 1/6 -
9-140005147-G-A DPP7 c.1432C>T p.Arg478Cys Missense 13/13 -
1-243493888-C-G SDCCAG8 c.1115C>G p.Ala372Gly Missense 10/18 -
20-62599227-C-A ZNF512B c.77G>T p.Arg26Leu Missense 2/17 -
19-55693469-C-T PTPRH c.2579G>A p.Arg860Gln Missense 17/18 -
2-69300191-T-C ANTXR1 c.450T>C p.Asp150Asp Synonymous 6/18 -
2-172338002-T-C DCAF17 c.*378T>C - 3-UTRSNV 14/14 -
3-130452500-C-T PIK3R4 c.1342G>A p.Val448Ile Missense 4/20 -
1-151735545-A-G MRPL9 c.231T>C p.His77His Synonymous 2/7 -
9-34489437-A-G DNAI1 c.378A>G p.Glu126Glu Synonymous 5/20 -
8-17541957-C-A MTUS1 c.2718G>T p.Thr906Thr Synonymous 7/15 -
2-172339807-C-T DCAF17 c.*2183C>T - 3-UTRSNV 14/14 -
2-172339807-C-G DCAF17 c.*2183C>G - 3-UTRSNV 14/14 -
5-14751181-C-G ANKH c.684G>C p.Leu228Leu Synonymous 5/12 -
5-14751181-C-T ANKH c.684G>A p.Leu228Leu Synonymous 5/12 -
10-100167396-G-A PYROXD2 c.258C>T p.Arg86Arg Synonymous 4/16 -
2-119699906-C-G MARCO c.30C>G p.Asp10Glu Missense 1/17 -
2-119699906-C-A MARCO c.30C>A p.Asp10Glu Missense 1/17 -
2-119699906-C-T MARCO c.30C>T p.Asp10Asp Synonymous 1/17 -
9-123782415-T-C C5 c.1345A>G p.Arg449Gly Missense 12/41 -
12-4652968-C-T RAD51AP1 c.107C>T p.Ser36Phe Missense 3/9 -
2-88478458-C-T THNSL2 c.728C>T p.Thr243Met Missense 4/8 -
19-50412760-G-A IL4I1 c.-227-5182C>T - intron_variant - 2/9
10-50340070-T-A FAM170B c.440A>T p.Gln147Leu Missense 2/2 -
19-37005808-A-G ZNF260 c.333T>C p.Tyr111Tyr Synonymous 4/4 -
1-175046826-G-A TNN c.272G>A p.Arg91His Missense 2/19 -
9-107581949-A-C ABCA1 c.3159T>G p.Val1053Val Synonymous 22/50 -
11-111365984-T-G BTG4 c.566A>C p.Asn189Thr Missense 5/6 -
6-46107962-C-A ENPP4 c.642C>A p.Ile214Ile Synonymous 2/4 -
8-71646544-T-A XKR9 c.1007T>A p.Leu336His Missense 5/5 -
1-233231571-T-A PCNX2 c.3876A>T p.Thr1292Thr Synonymous 22/34 -
6-39877617-A-G MOCS1 c.1064T>C p.Ile355Thr Missense 8/10 -
15-89382129-C-A ACAN c.306C>A p.Asp102Glu Missense 3/16 -
18-10672782-T-A PIEZO2 c.7911A>T p.Gly2637Gly Synonymous 51/52 -
16-4733253-C-T MGRN1 c.1445C>T p.Ser482Leu Missense 14/16 -
16-4733253-C-A MGRN1 c.1445C>A p.Ser482* Nonsense 14/16 -
1-246729251-C-T TFB2M c.190G>A p.Ala64Thr Missense 1/8 -
17-72916526-C-G USH1G c.405G>C p.Leu135Leu Synonymous 2/3 -
13-103401480-T-C CCDC168 c.1567A>G p.Asn523Asp Missense 4/4 -
10-52573698-G-A A1CF c.1242C>T p.Leu414Leu Synonymous 10/13 -
1-26317266-T-C PAFAH2 c.42A>G p.Gly14Gly Synonymous 2/11 -
11-62984850-G-A SLC22A25 c.766C>T p.Arg256* Nonsense 4/9 -
11-111365984-T-C BTG4 c.566A>G p.Asn189Ser Missense 5/6 -
17-38029310-G-T ZPBP2 c.573G>T p.Ala191Ala Synonymous 5/7 -
1-33475639-G-A AK2 c.*3143C>T - IntergenicSNV 6/6 -
2-190531615-T-C ASNSD1 c.757T>C p.Leu253Leu Synonymous 4/6 -
8-71646544-T-G XKR9 c.1007T>G p.Leu336Arg Missense 5/5 -
7-48315473-C-T ABCA13 c.6210C>T p.Thr2070Thr Synonymous 17/62 -
1-233231571-T-C PCNX2 c.3876A>G p.Thr1292Thr Synonymous 22/34 -
9-95152276-A-G CENPP c.564+10135A>G - IntronicSNV - 5/7
16-2112558-G-A TSC2 c.1318G>A p.Gly440Ser Missense 13/42 -
2-169985338-C-T LRP2 c.13803G>A p.Met4601Ile Missense 79/79 -
21-38308774-C-A HLCS c.971G>T p.Arg324Leu Missense 5/12 -
12-52966437-C-T KRT74 c.486G>A p.Glu162Glu Synonymous 2/9 -
22-29440848-C-T ZNRF3 c.714C>T p.Val238Val Synonymous 5/9 -
2-196749421-C-T DNAH7 c.5651G>A p.Arg1884Gln Missense 35/65 -
8-124664368-C-T KLHL38 c.799G>A p.Val267Ile Missense 2/4 -
3-130345381-G-T COL6A6 c.4931G>T p.Arg1644Leu Missense 24/36 -
8-86388036-G-C CA2 c.454G>C p.Ala152Pro Missense 5/7 -
12-124192207-T-C TCTN2 c.2041T>C p.Leu681Leu Synonymous 18/18 -
7-121513577-C-T PTPRZ1 c.24C>T p.Leu8Leu Synonymous 1/30 -
16-27373872-A-C IL4R c.1199A>C p.Glu400Ala Missense 11/11 -
2-31602841-G-A XDH c.1134C>T p.Gly378Gly Synonymous 13/36 -
1-179989584-G-C CEP350 c.2675G>C p.Arg892Thr Missense 12/38 -
8-74893452-A-G TMEM70 c.379A>G p.Thr127Ala Missense 3/3 -
3-124826596-C-A SLC12A8 c.1434G>T p.Arg478Ser Missense 10/14 -
11-106810558-A-G GUCY1A2 c.834T>C p.Ser278Ser Synonymous 4/9 -
X-153171406-G-A AVPR2 c.446G>A p.Arg149His Missense 3/4 -
4-183812579-G-A DCTD c.543C>T p.Asn181Asn Synonymous 6/6 -
4-155505888-G-T FGA c.1989C>A p.Cys663* Nonsense 6/6 -
3-148919972-T-C CP c.1265A>G p.Lys422Arg Missense 7/19 -
12-70949014-G-T PTPRB c.5069C>A p.Thr1690Asn Missense 20/34 -
5-176863227-T-A GRK6 c.1211T>A p.Val404Asp Missense 12/16 -
1-157789820-G-A FCRL1 c.8C>T p.Pro3Leu Missense 1/11 -
7-140453136-A-G BRAF c.1799T>C p.Val600Ala Missense 15/18 -
5-79026434-G-A CMYA5 c.1846G>A p.Val616Ile Missense 2/13 -
1-85029489-T-A CTBS c.724A>T p.Ile242Phe Missense 5/7 -
8-104336788-C-G FZD6 c.454C>G p.Gln152Glu Missense 4/7 -
7-5417609-G-A TNRC18 c.2199C>T p.His733His Synonymous 6/30 -
8-142200405-G-A DENND3 c.3028G>A p.Asp1010Asn Missense 19/23 -
16-85954801-G-A IRF8 c.1194G>A p.Pro398Pro Synonymous 9/9 -
15-34543180-C-G SLC12A6 c.1259G>C p.Ser420Thr Missense 10/25 -
17-36483847-G-C GPR179 c.5605C>G p.Gln1869Glu Missense 11/11 -
10-32751965-T-C CCDC7 c.498T>C p.Asn166Asn Synonymous 6/18 -
5-137892222-G-A HSPA9 c.1881C>T p.Ser627Ser Synonymous 16/17 -
5-137892222-G-C HSPA9 c.1881C>G p.Ser627Arg Missense 16/17 -
20-35796576-G-A MROH8 c.597C>T p.Asn199Asn Synonymous 5/25 -
20-34828459-T-C AAR2 c.669T>C p.Ala223Ala Synonymous 2/4 -
7-113518498-C-A PPP1R3A c.2649G>T p.Arg883Ser Missense 4/4 -
1-203766964-A-G ZBED6 c.314A>G p.Asn105Ser Missense 1/1 -
20-62560839-C-T DNAJC5 c.282C>T p.Asn94Asn Synonymous 3/5 -
8-96264436-C-T C8orf37 c.450G>A p.Ser150Ser Synonymous 5/6 -
1-203766964-A-C ZBED6 c.314A>C p.Asn105Thr Missense 1/1 -
8-113702131-A-G CSMD3 c.1809T>C p.Asn603Asn Synonymous 13/69 -
21-46319069-T-C ITGB2 c.906A>G p.Pro302Pro Synonymous 8/16 -
3-186952027-G-C MASP1 c.1304-4342C>G - IntronicSNV - 10/15
3-186952027-G-A MASP1 c.1304-4342C>T - IntronicSNV - 10/15
22-38120282-C-G TRIOBP c.1719C>G p.Asp573Glu Missense 7/24 -
10-101995477-T-G CWF19L1 c.1419A>C p.Thr473Thr Synonymous 13/14 -
6-43307645-G-A ZNF318 c.4091C>T p.Ser1364Leu Missense 10/10 -
3-121415714-C-G GOLGB1 c.3641G>C p.Arg1214Pro Missense 13/22 -
7-23299648-C-G GPNMB c.591C>G p.Asn197Lys Missense 5/11 -
7-23299648-C-T GPNMB c.591C>T p.Asn197Asn Synonymous 5/11 -
1-202104616-T-A ARL8A c.411A>T p.Ala137Ala Synonymous 5/7 -
1-202104616-T-C ARL8A c.411A>G p.Ala137Ala Synonymous 5/7 -
3-121415714-C-T GOLGB1 c.3641G>A p.Arg1214His Missense 13/22 -
11-1017186-A-T MUC6 c.5615T>A p.Met1872Lys Missense 31/33 -
11-1017186-A-G MUC6 c.5615T>C p.Met1872Thr Missense 31/33 -
8-72973909-C-T TRPA1 c.895G>A p.Val299Met Missense 7/27 -
11-59629083-T-C TCN1 c.473A>G p.Asn158Ser Missense 4/9 -
9-2039593-G-C SMARCA2 c.483G>C p.Pro161Pro Synonymous 4/34 -
9-2039593-G-A SMARCA2 c.483G>A p.Pro161Pro Synonymous 4/34 -
2-73118508-C-T SPR c.628C>T p.Arg210Trp Missense 3/3 -
5-136973012-C-T KLHL3 c.1196G>A p.Arg399Gln Missense 11/15 -
4-118005568-T-G TRAM1L1 c.982A>C p.Asn328His Missense 1/1 -
4-118005568-T-C TRAM1L1 c.982A>G p.Asn328Asp Missense 1/1 -
8-133764161-G-A TMEM71 c.184C>T p.Arg62Cys Missense 4/10 -
3-127783877-C-T SEC61A1 c.774C>T p.Phe258Phe Synonymous 8/12 -
18-9886874-A-T TXNDC2 c.197A>T p.Asp66Val Missense 2/2 -
8-10464616-G-A RP1L1 c.6992C>T p.Thr2331Met Missense 4/4 -
6-151257985-C-T MTHFD1L c.1302C>T p.Ile434Ile Synonymous 12/28 -
1-46497918-C-T MAST2 c.3256C>T p.Arg1086Trp Missense 25/29 -
16-89795660-A-G ZNF276 c.878A>G p.Asp293Gly Missense 6/11 -
19-38028508-C-A ZNF793 c.948C>A p.Cys316* Nonsense 8/8 -
19-38028508-C-T ZNF793 c.948C>T p.Cys316Cys Synonymous 8/8 -
19-44661139-T-C ZNF234 c.970T>C p.Cys324Arg Missense 6/6 -
19-5744499-T-C CATSPERD c.635T>C p.Met212Thr Missense 8/22 -
16-46652209-A-C SHCBP1 c.179T>G p.Met60Arg Missense 2/13 -
17-73830188-C-G UNC13D c.2335G>C p.Val779Leu Missense 24/32 -
7-134632314-G-A CALD1 c.1588G>A p.Val530Met Missense 8/15 -
1-190234126-T-C BRINP3 c.487A>G p.Ser163Gly Missense 4/8 -
4-55524168-T-C KIT c.1-14T>C - 5-UTRSNV 1/21 -
4-55524168-T-A KIT c.1-14T>A - 5-UTRSNV 1/21 -
1-205548956-G-A MFSD4A c.308G>A p.Arg103His Missense 2/10 -
9-107566930-C-T ABCA1 c.4536G>A p.Thr1512Thr Synonymous 32/50 -
1-45795084-G-A MUTYH c.1535C>T p.Ser512Phe Missense 16/16 -
2-1500456-C-T TPO c.2305C>T p.Arg769Trp Missense 13/17 -
8-25174610-C-T DOCK5 c.1406C>T p.Thr469Met Missense 14/52 -
5-13867949-T-C DNAH5 c.3987A>G p.Lys1329Lys Synonymous 25/79 -
7-105621500-T-G CDHR3 c.336T>G p.Gly112Gly Synonymous 3/19 -
12-120527791-G-A BICDL1 c.1476G>A p.Arg492Arg Synonymous 8/9 -
20-56082726-C-T CTCFL c.1674+936G>A - IntronicSNV - 10/11
7-150027763-A-G LRRC61 c.1-6188A>G - IntronicSNV - 1/1
12-81101767-C-A MYF6 c.269C>A p.Ala90Asp Missense 1/3 -
14-45633647-A-G FANCM c.1667A>G p.Asp556Gly Missense 10/23 -
22-18912677-C-T PRODH c.554G>A p.Trp185* Nonsense 5/15 -
2-168115710-T-G XIRP2 c.*1383T>G - 3_prime_UTR_variant 11/11 -
7-142658565-G-C KEL c.105C>G p.Pro35Pro Synonymous 3/19 -
7-142658565-G-A KEL c.105C>T p.Pro35Pro Synonymous 3/19 -
9-139405181-G-A NOTCH1 c.2664C>T p.His888His Synonymous 17/34 -
9-135140020-A-G SETX c.7640T>C p.Ile2547Thr Missense 26/26 -
2-99271976-T-C MGAT4A c.706A>G p.Thr236Ala Missense 8/16 -
8-86388036-G-A CA2 c.454G>A p.Ala152Thr Missense 5/7 -
1-205548956-G-T MFSD4A c.308G>T p.Arg103Leu Missense 2/10 -
7-31008686-G-A GHRHR c.169G>A p.Ala57Thr Missense 3/13 -
1-45795084-G-C MUTYH c.1535C>G p.Ser512Cys Missense 16/16 -
1-228431034-A-G OBSCN c.3080A>G p.Lys1027Arg Missense 10/81 -
9-107566930-C-A ABCA1 c.4536G>T p.Thr1512Thr Synonymous 32/50 -
12-81101767-C-T MYF6 c.269C>T p.Ala90Val Missense 1/3 -
18-21469993-C-T LAMA3 c.495C>T p.Phe165Phe Synonymous 5/38 -
1-76210251-C-G ACADM c.600-1240C>G - IntronicSNV - 7/11
20-5904028-C-T CHGB c.1238C>T p.Pro413Leu Missense 4/5 -
14-50649223-A-G SOS2 c.816T>C p.Ser272Ser Synonymous 6/23 -
4-140624656-T-C MGST2 c.277T>C p.Tyr93His Missense 4/5 -
6-159183129-A-G SYTL3 c.1232A>G p.His411Arg Missense 15/17 -
2-175243659-T-C CIR1 c.476A>G p.Asp159Gly Missense 7/10 -
2-152584322-C-T NEB c.177G>A p.Gln59Gln Synonymous 5/150 -
1-162344186-C-T SPATA46 c.438G>A p.Glu146Glu Synonymous 3/3 -
9-139371562-G-A SEC16A c.506C>T p.Thr169Met Missense 3/32 -
14-20811843-A-G PARP2 c.43A>G p.Arg15Gly Missense 1/16 -
9-140002875-C-A MAN1B1 c.1932C>A p.Val644Val Synonymous 13/13 -
13-79190219-A-C RNF219 c.1677T>G p.Phe559Leu Missense 6/6 -
9-140002875-C-T MAN1B1 c.1932C>T p.Val644Val Synonymous 13/13 -
8-90782128-A-T RIPK2 c.612A>T p.Ser204Ser Synonymous 4/11 -
13-79190219-A-G RNF219 c.1677T>C p.Phe559Phe Synonymous 6/6 -
2-27801739-T-C C2orf16 c.2300T>C p.Ile767Thr Missense 1/1 -
6-56857235-G-A BEND6 c.180G>A p.Glu60Glu Synonymous 3/7 -
X-53453272-C-T RIBC1 c.48C>T p.Ile16Ile Synonymous 3/5 -
3-169485639-C-T ACTRT3 c.700G>A p.Glu234Lys Missense 2/2 -
3-194134535-T-C ATP13A3 c.3436A>G p.Met1146Val Missense 31/32 -
14-65241867-G-A SPTB c.4818C>T p.Tyr1606Tyr Synonymous 22/35 -
15-33916136-G-T RYR3 c.2486G>T p.Arg829Leu Missense 20/104 -
11-22647099-G-A FANCF c.258C>T p.Leu86Leu Synonymous 1/1 -
11-22647099-G-T FANCF c.258C>A p.Leu86Leu Synonymous 1/1 -
6-52768506-C-T GSTA3 c.107G>A p.Gly36Glu Missense 3/7 -
1-223283837-T-C TLR5 c.2537A>G p.Asp846Gly Missense 6/6 -
5-163446-G-C PLEKHG4B c.3259G>C - missense_variant 13/20 -
5-163446-G-A PLEKHG4B c.3259G>A - missense_variant 13/20 -
17-40010829-C-T KLHL11 c.1290G>A p.Leu430Leu Synonymous 2/2 -
19-30191246-C-T C19orf12 c.*2373G>A - 3-UTRSNV 3/3 -
19-30191246-C-A C19orf12 c.*2373G>T - 3-UTRSNV 3/3 -
12-51319200-G-A METTL7A c.379G>A p.Gly127Arg Missense 1/2 -
7-95221879-T-C PDK4 c.560A>G p.Asn187Ser Missense 5/11 -
7-95221879-T-A PDK4 c.560A>T p.Asn187Ile Missense 5/11 -
8-100182333-G-C VPS13B c.2275G>C p.Val759Leu Missense 16/62 -
1-25944741-T-C MAN1C1 c.453T>C p.Arg151Arg Synonymous 1/12 -
1-158906871-A-G PYHIN1 c.171A>G p.Pro57Pro Synonymous 2/9 -
2-44161960-T-C LRPPRC c.2562A>G p.Val854Val Synonymous 24/38 -
9-114341136-C-T PTGR1 c.591G>A p.Glu197Glu Synonymous 7/10 -
11-71189477-C-T NADSYN1 c.835C>T p.Arg279Trp Missense 10/21 -
12-52790684-C-T KRT82 c.1051G>A p.Glu351Lys Missense 6/9 -
2-71740958-T-C DYSF c.570T>C p.Pro190Pro Synonymous 6/55 -
11-27389739-T-C LGR4 c.2531A>G p.Asp844Gly Missense 18/18 -
12-7281303-G-A RBP5 c.69C>T p.Ala23Ala Synonymous 1/4 -
18-9122591-T-C NDUFV2 c.381T>C p.Val127Val Synonymous 5/8 -
3-151017912-G-A GPR87 c.1-24C>T - 5-UTRSNV 2/3 -
7-107420206-G-T SLC26A3 c.1314C>A p.Ser438Ser Synonymous 12/21 -
7-92825188-C-T HEPACAM2 c.1192G>A p.Gly398Arg Missense 7/9 -
2-118705758-G-A CCDC93 c.1147C>T p.Leu383Leu Synonymous 15/24 -
15-102359203-G-C OR4F15 c.814G>C p.Ala272Pro Missense 1/1 -
1-224001963-G-T TP53BP2 c.268C>A p.Arg90Ser Missense 3/18 -
9-125140732-C-T PTGS1 c.232C>T p.Arg78Trp Missense 4/11 -
14-75475894-G-C EIF2B2 c.*3G>C - 3-UTRSNV 8/8 -
2-74592668-G-A DCTN1 c.3003C>T p.Thr1001Thr Synonymous 25/32 -
5-171621214-A-C EFCAB9 c.38A>C p.Tyr13Ser Missense 1/4 -
5-171621214-A-G EFCAB9 c.38A>G p.Tyr13Cys Missense 1/4 -
12-105504953-T-C WASHC4 c.112T>C p.Tyr38His Missense 2/33 -
15-79606191-C-T TMED3 c.261C>T p.Ser87Ser Synonymous 2/3 -
2-168104988-G-A XIRP2 c.7086G>A p.Met2362Ile Missense 9/11 -
1-232649877-G-A SIPA1L2 c.1209C>T p.Asn403Asn Synonymous 1/21 -
12-7015707-G-T LRRC23 c.371G>T p.Arg124Leu Missense 4/7 -
2-74077556-G-T STAMBP c.921G>T p.Gly307Gly Synonymous 8/11 -
1-224001963-G-A TP53BP2 c.268C>T p.Arg90Cys Missense 3/18 -
16-2140972-G-C PKD1 c.11913C>G p.Arg3971Arg Synonymous 43/46 -
6-46107962-C-T ENPP4 c.642C>T p.Ile214Ile Synonymous 2/4 -
10-6553040-C-T PRKCQ c.235G>A p.Val79Met Missense 3/18 -
3-191098660-A-G CCDC50 c.653A>G p.Lys218Arg Missense 8/11 -
12-124156637-C-T TCTN2 c.225C>T p.Asn75Asn Synonymous 3/18 -
16-10989219-C-A CIITA c.133C>A p.Leu45Met Missense 2/20 -
16-10989219-C-T CIITA c.133C>T p.Leu45Leu Synonymous 2/20 -
16-10989219-C-G CIITA c.133C>G p.Leu45Val Missense 2/20 -
2-179458002-G-A TTN c.51229C>T p.Leu17077Leu Synonymous 248/312 -
20-2377204-C-T TGM6 c.477C>T p.Ser159Ser Synonymous 4/13 -
20-2377204-C-A TGM6 c.477C>A p.Ser159Arg Missense 4/13 -
1-244528053-G-A C1orf100 c.51G>A p.Pro17Pro Synonymous 2/5 -
2-109388273-A-G RANBP2 c.7966A>G p.Thr2656Ala Missense 21/29 -
9-738434-C-T KANK1 c.3483C>T p.Asn1161Asn Synonymous 8/12 -
20-43836997-G-A SEMG1 c.1059G>A p.Thr353Thr Synonymous 2/3 -
15-51791087-A-G DMXL2 c.4334T>C p.Ile1445Thr Missense 18/43 -
12-70949014-G-A PTPRB c.5069C>T p.Thr1690Ile Missense 20/34 -
11-126147590-T-C FOXRED1 c.*6T>C - 3-UTRSNV 11/11 -
9-71532547-G-A PIP5K1B c.855G>A p.Glu285Glu Synonymous 9/16 -
1-43675539-G-A CFAP57 c.1881G>A p.Leu627Leu Synonymous 11/11 -
4-103537662-G-C NFKB1 c.2821G>C p.Glu941Gln Missense 24/24 -
1-45799121-G-A MUTYH c.303C>T p.Tyr101Tyr Synonymous 3/16 -
11-62288014-G-A AHNAK c.342+14461C>T - IntronicSNV - 4/5
1-160169695-G-T CASQ1 c.1039G>T p.Gly347* Nonsense 10/11 -
12-32369288-G-A BICD1 c.321G>A p.Gly107Gly Synonymous 2/10 -
1-45799121-G-T MUTYH c.303C>A p.Tyr101* Nonsense 3/16 -
12-86198935-C-T RASSF9 c.853G>A p.Ala285Thr Missense 2/2 -
21-15524921-C-T LIPI c.1154G>A p.Gly385Glu Missense 8/10 -
7-138417791-A-G ATP6V0A4 c.1739T>C p.Met580Thr Missense 17/22 -
9-98011497-G-A FANCC c.77C>T p.Ser26Phe Missense 2/15 -
12-19506870-C-G PLEKHA5 c.2574C>G p.Pro858Pro Synonymous 20/26 -
2-179407152-C-T TTN c.89627G>A p.Arg29876His Missense 298/312 -
2-179632496-T-C TTN c.9461A>G p.Lys3154Arg Missense 40/312 -
9-113192279-A-T SVEP1 c.5536T>A p.Ser1846Thr Missense 34/48 -
10-104359297-G-T SUFU c.1018G>T p.Ala340Ser Missense 8/12 -
8-33369551-C-G TTI2 c.581G>C p.Gly194Ala Missense 1/7 -
8-100844858-C-T VPS13B c.9667C>T p.Arg3223Trp Missense 52/62 -
5-160042901-C-T ATP10B c.2597G>A p.Arg866Gln Missense 17/26 -
2-238287288-C-A COL6A3 c.2488G>T p.Ala830Ser Missense 6/44 -
4-66231686-C-A EPHA5 c.2014G>T p.Ala672Ser Missense 11/18 -
16-67691194-C-T CARMIL2 c.4170C>T p.Leu1390Leu Synonymous 37/38 -
19-12155697-A-G ZNF878 c.519T>C p.Cys173Cys Synonymous 4/4 -
8-103238260-G-A RRM2B c.423C>T p.Val141Val Synonymous 3/9 -
3-169572694-C-T LRRC31 c.898G>A p.Glu300Lys Missense 6/9 -
2-152432811-A-T NEB c.11659T>A p.Ser3887Thr Missense 79/150 -
4-79366891-G-A FRAS1 c.5881G>A p.Val1961Ile Missense 42/42 -
7-98741441-A-G SMURF1 c.1-38T>C - 5-UTRSNV 1/19 -
1-175049405-C-T TNN c.891C>T p.Pro297Pro Synonymous 4/19 -
14-51259494-G-A NIN c.371C>T p.Thr124Met Missense 5/30 -
20-44596158-G-A ZNF335 c.930C>T p.Asp310Asp Synonymous 6/28 -
9-8636765-C-T PTPRD c.144G>A p.Thr48Thr Synonymous 2/30 -
7-102462549-G-A FBXL13 c.1956C>T p.Asp652Asp Synonymous 19/20 -
9-113192279-A-G SVEP1 c.5536T>C p.Ser1846Pro Missense 34/48 -
12-66597527-A-G IRAK3 c.134-5709A>G - IntronicSNV - 1/10
2-17697635-T-C RAD51AP2 c.2048A>G p.Glu683Gly Missense 1/3 -
8-100844858-C-A VPS13B c.9667C>A p.Arg3223Arg Synonymous 52/62 -
11-6415690-G-A SMPD1 c.1749G>A p.Ser583Ser Synonymous 6/6 -
11-6415690-G-T SMPD1 c.1749G>T p.Ser583Ser Synonymous 6/6 -
9-19380205-T-A RPS6 c.1-12A>T - 5-UTRSNV 1/6 -
18-9936132-T-C VAPA c.258T>C p.Asp86Asp Synonymous 3/7 -
6-90425390-G-A MDN1 c.6842C>T p.Thr2281Ile Missense 45/102 -
7-76908153-C-T CCDC146 c.1525C>T p.Arg509Trp Missense 12/19 -
10-105807846-G-A COL17A1 c.2244C>T p.Asp748Asp Synonymous 30/56 -
11-1016654-T-A MUC6 c.6147A>T p.Pro2049Pro Synonymous 31/33 -
11-1016654-T-C MUC6 c.6147A>G p.Pro2049Pro Synonymous 31/33 -
7-98741441-A-C SMURF1 c.1-38T>G - 5-UTRSNV 1/19 -
2-169869901-A-G ABCB11 c.270T>C p.Phe90Phe Synonymous 5/28 -
8-110592151-A-G SYBU c.608T>C p.Leu203Pro Missense 7/9 -
15-68583172-C-G FEM1B c.1476C>G p.Val492Val Synonymous 2/2 -
8-116616408-A-G TRPS1 c.1788T>C p.Tyr596Tyr Synonymous 4/7 -
1-175049405-C-G TNN c.891C>G p.Pro297Pro Synonymous 4/19 -
3-23848835-A-T UBE2E1 c.75A>T p.Glu25Asp Missense 2/6 -
1-92789824-C-T RPAP2 c.1347C>T p.Tyr449Tyr Synonymous 8/13 -
12-100897216-C-A NR1H4 c.80-7340C>A - IntronicSNV - 3/10
12-100897216-C-T NR1H4 c.80-7340C>T - IntronicSNV - 3/10
1-184702019-G-A EDEM3 c.564C>T p.Tyr188Tyr Synonymous 6/20 -
11-10647995-G-A MRVI1 c.862C>T p.Leu288Phe Missense 8/20 -
7-139734069-C-T PARP12 c.1387G>A p.Val463Met Missense 8/12 -
20-60768573-C-A MTG2 c.97C>A p.Arg33Arg Synonymous 2/7 -
20-60768573-C-T MTG2 c.97C>T p.Arg33Trp Missense 2/7 -
11-70034026-G-A ANO1 c.2877G>A p.Pro959Pro Synonymous 26/26 -
9-99581916-C-G ZNF782 c.389G>C p.Arg130Pro Missense 6/6 -
9-99581916-C-T ZNF782 c.389G>A p.Arg130His Missense 6/6 -
20-2618182-G-T TMC2 c.2448G>T p.Glu816Asp Missense 19/20 -
7-138921799-A-T UBN2 c.517A>T p.Arg173Trp Missense 2/18 -
4-187539323-C-T FAT1 c.8417G>A p.Ser2806Asn Missense 10/27 -
5-156671437-G-T ITK c.1398G>T p.Val466Val Synonymous 13/17 -
9-332451-G-A DOCK8 c.1098G>A p.Thr366Thr Synonymous 10/48 -
17-67111594-G-A ABCA6 c.1529C>T p.Thr510Met Missense 12/39 -
16-10525062-C-T ATF7IP2 c.585C>T p.Asp195Asp Synonymous 3/12 -
7-150935083-G-A CHPF2 c.1635G>A p.Val545Val Synonymous 4/4 -
2-172585298-T-C DYNC1I2 c.1329T>C p.Asp443Asp Synonymous 14/18 -
1-192780657-C-T RGS2 c.567C>T p.Phe189Phe Synonymous 5/5 -
11-100998900-A-C PGR c.902T>G p.Met301Arg Missense 1/8 -
13-77570078-T-G CLN5 c.528T>G p.Thr176Thr Synonymous 3/4 -
3-195510659-T-C MUC4 c.7792A>G p.Thr2598Ala Missense 2/25 -
3-195510659-T-G MUC4 c.7792A>C p.Thr2598Pro Missense 2/25 -
15-62316035-C-T VPS13C c.386-316G>A - IntronicSNV - 5/82
20-62599227-C-T ZNF512B c.77G>A p.Arg26Gln Missense 2/17 -
X-140993990-C-T MAGEC1 c.800C>T p.Ser267Phe Missense 4/4 -
22-44031042-T-C EFCAB6 c.2038A>G p.Thr680Ala Missense 18/32 -
1-226027548-C-T EPHX1 c.741C>T p.His247His Synonymous 6/9 -
2-241513695-G-A RNPEPL1 c.1104G>A p.Thr368Thr Synonymous 5/11 -
2-241513695-G-C RNPEPL1 c.1104G>C p.Thr368Thr Synonymous 5/11 -
1-186324810-A-G TPR c.1979T>C p.Ile660Thr Missense 16/51 -
21-32410582-C-T KRTAP19-8 c.181G>A p.Ala61Thr Missense 1/1 -
2-20234122-C-A LAPTM4A c.583G>T p.Val195Leu Missense 6/7 -
2-20234122-C-T LAPTM4A c.583G>A p.Val195Met Missense 6/7 -
17-61655938-C-T DCAF7 c.246C>T p.Gly82Gly Synonymous 2/8 -
1-243493891-A-G SDCCAG8 c.1118A>G p.Glu373Gly Missense 10/18 -
1-201288982-C-A PKP1 c.1271C>A p.Pro424Gln Missense 7/15 -
19-38230877-G-A ZNF573 c.340C>T p.Arg114Cys Missense 8/8 -
3-186504407-A-G EIF4A2 c.744A>G p.Lys248Lys Synonymous 7/11 -
7-114332234-A-T FOXP2 c.*2253A>T - 3-UTRSNV 17/17 -
1-248308934-C-A OR2M5 c.485C>A p.Ala162Glu Missense 1/1 -
16-129277-A-G MPG c.25-147A>G - IntronicSNV - 1/3
6-163149361-C-T PACRG c.94C>T p.His32Tyr Missense 2/7 -
8-17883104-G-A PCM1 c.5986G>A p.Gly1996Ser Missense 38/39 -
1-248224618-C-T OR2L3 c.635C>T p.Ala212Val Missense 1/1 -
1-245851289-G-T KIF26B c.5004G>T p.Ser1668Ser Synonymous 12/15 -
8-17883104-G-C PCM1 c.5986G>C p.Gly1996Arg Missense 38/39 -
11-56380774-C-T OR5M1 c.205G>A p.Val69Ile Missense 1/1 -
6-51612999-C-A PKHD1 c.9415G>T p.Asp3139Tyr Missense 58/67 -
3-112991397-A-C BOC c.808A>C p.Ser270Arg Missense 7/20 -
2-44099435-A-T ABCG8 c.1201A>T p.Thr401Ser Missense 8/13 -
8-144994212-A-T PLEC c.9858T>A p.Ser3286Ser Synonymous 33/33 -
2-43814095-G-T THADA c.349C>A p.Arg117Ser Missense 5/38 -
7-114270033-A-G FOXP2 c.570A>G p.Gln190Gln Synonymous 5/17 -
12-113875765-C-A SDSL c.871C>A p.Leu291Ile Missense 9/9 -
20-44588904-G-A ZNF335 c.1963C>T p.Pro655Ser Missense 14/28 -
1-226827315-C-T ITPKB c.2496G>A p.Thr832Thr Synonymous 6/8 -
21-47575470-G-A FTCD c.1-33C>T - 5-UTRSNV 1/15 -
15-42742620-G-C ZNF106 c.1781C>G p.Thr594Arg Missense 2/19 -
9-138678253-G-T KCNT1 c.3388G>T p.Ala1130Ser Missense 29/31 -
1-204985634-G-A NFASC c.3690G>A p.Thr1230Thr Synonymous 30/30 -
10-3181107-G-A PITRM1 c.2909C>T p.Pro970Leu Missense 25/27 -
3-41278119-C-A CTNNB1 c.1995C>A p.Asp665Glu Missense 13/16 -
3-41278119-C-T CTNNB1 c.1995C>T p.Asp665Asp Synonymous 13/16 -
1-236966848-G-A MTR c.155G>A p.Arg52Gln Missense 2/33 -
6-134210600-G-T TCF21 c.65G>T p.Gly22Val Missense 1/3 -
10-45878050-G-C ALOX5 c.270G>C p.Thr90Thr Synonymous 2/14 -
6-134210600-G-A TCF21 c.65G>A p.Gly22Glu Missense 1/3 -
2-168103863-G-T XIRP2 c.5961G>T p.Ala1987Ala Synonymous 9/11 -
6-36336764-G-C ETV7 c.749C>G p.Ala250Gly Missense 6/8 -
2-168103863-G-A XIRP2 c.5961G>A p.Ala1987Ala Synonymous 9/11 -
1-169510367-T-C F5 c.3961A>G p.Ile1321Val Missense 13/25 -
X-138869368-T-C ATP11C c.1565A>G p.Tyr522Cys Missense 15/30 -
12-6219682-G-A VWF c.390C>T p.Ser130Ser Synonymous 5/52 -
12-20905279-G-T SLCO1C1 c.1956G>T p.Val652Val Synonymous 15/15 -
1-156514261-G-A IQGAP3 c.2308C>T p.His770Tyr Missense 20/38 -
1-120054192-G-A HSD3B1 c.212G>A p.Arg71Lys Missense 3/4 -
21-47572887-C-T FTCD c.301G>A p.Val101Met Missense 3/15 -
2-71351612-G-C MCEE c.102C>G p.Pro34Pro Synonymous 2/3 -
12-21428307-G-A SLCO1A2 c.1662C>T p.Cys554Cys Synonymous 12/14 -
4-101982305-C-A PPP3CA c.1095G>T p.Leu365Leu Synonymous 10/14 -
12-46320421-G-A SCAF11 c.3063C>T p.Pro1021Pro Synonymous 11/15 -
22-30640765-G-C LIF c.177C>G p.Ala59Ala Synonymous 2/3 -
9-2828690-G-T PUM3 c.941C>A p.Thr314Asn Missense 9/18 -
17-39191013-C-A KRTAP1-3 c.61G>T p.Gly21Cys Missense 1/1 -
1-236192917-C-A NID1 c.1671G>T p.Pro557Pro Synonymous 7/20 -
1-100340782-G-A AGL c.1155G>A p.Lys385Lys Synonymous 9/34 -
18-46904937-T-C DYM c.421A>G p.Ser141Gly Missense 5/17 -
1-55464869-G-T BSND c.10G>T p.Glu4* Nonsense 1/4 -
11-1093272-A-C MUC2 c.12507A>C - synonymous_variant 32/51 -
1-55464869-G-A BSND c.10G>A p.Glu4Lys Missense 1/4 -
1-228437845-C-G OBSCN c.4213C>G p.Arg1405Gly Missense 14/81 -
6-114378789-T-G HS3ST5 c.673A>C p.Lys225Gln Missense 2/2 -
3-180334458-C-T CCDC39 c.2432G>A p.Arg811His Missense 18/20 -
3-180334458-C-G CCDC39 c.2432G>C p.Arg811Pro Missense 18/20 -
3-157146149-G-T VEPH1 c.658C>A p.Arg220Arg Synonymous 5/14 -
3-157146149-G-A VEPH1 c.658C>T p.Arg220Trp Missense 5/14 -
5-79026187-A-G CMYA5 c.1599A>G p.Glu533Glu Synonymous 2/13 -
11-1271847-C-A MUC5B c.13737C>A p.Ala4579Ala Synonymous 31/49 -
11-1271847-C-G MUC5B c.13737C>G p.Ala4579Ala Synonymous 31/49 -
5-36962301-G-A NIPBL c.535G>A p.Ala179Thr Missense 6/46 -
13-101020733-G-T PCCA c.1651G>T p.Val551Phe Missense 19/24 -
13-101020733-G-A PCCA c.1651G>A p.Val551Ile Missense 19/24 -
1-46497918-C-G MAST2 c.3256C>G p.Arg1086Gly Missense 25/29 -
8-125107150-G-C FER1L6 c.4566G>C p.Glu1522Asp Missense 35/41 -
9-124072992-G-C GSN c.535G>C p.Val179Leu Missense 4/17 -
19-36940698-A-G ZNF566 c.438T>C p.His146His Synonymous 5/5 -
1-43394958-C-T SLC2A1 c.895G>A p.Glu299Lys Missense 7/10 -
1-85718232-A-C C1orf52 c.*80T>G - 3-UTRSNV 3/3 -
1-228492220-C-T OBSCN c.11660-1853C>T - IntronicSNV - 43/80
18-21469993-C-G LAMA3 c.495C>G p.Phe165Leu Missense 5/38 -
15-64452308-G-A PPIB c.338C>T p.Thr113Ile Missense 3/5 -
7-106938643-T-C COG5 c.1350A>G p.Leu450Leu Synonymous 12/21 -
6-17773790-T-C KIF13A c.4243A>G p.Met1415Val Missense 36/38 -
18-224131-G-A THOC1 c.1257C>T p.Pro419Pro Synonymous 16/21 -
2-29754824-C-T ALK c.1111G>A p.Ala371Thr Missense 4/29 -
8-144994212-A-G PLEC c.9858T>C p.Ser3286Ser Synonymous 33/33 -
17-41256279-C-G BRCA1 c.302-1G>C - IntronicSNV - 5/22
17-41256279-C-T BRCA1 c.302-1G>A - IntronicSNV - 5/22
10-28228926-C-T ARMC4 c.1997G>A p.Arg666Gln Missense 14/20 -
15-99514335-A-G PGPEP1L c.74T>C p.Leu25Pro Missense 3/5 -
10-28228926-C-G ARMC4 c.1997G>C p.Arg666Pro Missense 14/20 -
3-33868104-C-T PDCD6IP c.717+32C>T - IntronicSNV - 6/17
6-119341191-G-T FAM184A c.1284C>A p.Thr428Thr Synonymous 4/18 -
1-248262987-C-T OR2L13 c.310C>T p.Leu104Leu Synonymous 3/3 -
12-4652968-C-A RAD51AP1 c.107C>A p.Ser36Tyr Missense 3/9 -
8-99054018-G-A RPL30 c.*11C>T - 3-UTRSNV 5/5 -
2-179633644-G-C TTN c.8919C>G p.Ser2973Ser Synonymous 38/312 -
2-31602791-T-A XDH c.1184A>T p.Lys395Met Missense 13/36 -
2-31602791-T-C XDH c.1184A>G p.Lys395Arg Missense 13/36 -
20-57613585-G-C PRELID3B c.137C>G p.Ser46Cys Missense 2/6 -
7-56022689-G-A MRPS17 c.211G>A p.Val71Ile Missense 3/3 -
2-99006129-C-T CNGA3 c.458C>T p.Thr153Met Missense 6/8 -
1-10190575-G-C UBE4B c.1326G>C p.Leu442Phe Missense 12/27 -
2-99006129-C-A CNGA3 c.458C>A p.Thr153Lys Missense 6/8 -
6-90450026-T-A MDN1 c.4520A>T p.Glu1507Val Missense 32/102 -
7-43506113-A-C HECW1 c.2859A>C p.Pro953Pro Synonymous 15/30 -
7-43506113-A-T HECW1 c.2859A>T p.Pro953Pro Synonymous 15/30 -
6-97711214-C-T MMS22L c.939G>A p.Ser313Ser Synonymous 9/25 -
19-15273335-C-T NOTCH3 c.5854G>A p.Val1952Met Missense 32/33 -
1-116931628-C-A ATP1A1 c.741C>A p.Thr247Thr Synonymous 7/23 -
5-36171756-A-G SKP2 c.822A>G p.Val274Val Synonymous 7/10 -
3-148597614-G-A CPA3 c.514G>A p.Asp172Asn Missense 6/11 -
16-162783-G-A NPRL3 c.1-153C>T - IntronicSNV 2/12 -
1-228476366-G-T OBSCN c.10116G>T p.Glu3372Asp Missense 38/81 -
17-46474118-G-A SKAP1 c.76C>T p.Arg26Trp Missense 2/13 -
2-64780144-A-G AFTPH c.1536A>G p.Gln512Gln Synonymous 2/9 -
6-70639473-A-G COL19A1 c.547A>G p.Ile183Val Missense 6/51 -
11-129775599-C-T PRDM10 c.3201G>A p.Gln1067Gln Synonymous 20/21 -
17-46474118-G-T SKAP1 c.76C>A p.Arg26Arg Synonymous 2/13 -
6-70639473-A-C COL19A1 c.547A>C p.Ile183Leu Missense 6/51 -
19-39025366-C-G RYR1 c.11266C>G p.Gln3756Glu Missense 79/106 -
9-131394469-G-T SPTAN1 c.6811G>T p.Ala2271Ser Missense 52/56 -
9-131394469-G-A SPTAN1 c.6811G>A p.Ala2271Thr Missense 52/56 -
5-78532606-A-C JMY c.133A>C p.Thr45Pro Missense 1/11 -
9-22006147-C-T CDKN2B c.256G>A p.Asp86Asn Missense 2/2 -
22-22842518-G-A ZNF280B c.1206C>T p.Pro402Pro Synonymous 4/4 -
9-22006147-C-A CDKN2B c.256G>T p.Asp86Tyr Missense 2/2 -
2-233127979-T-C DIS3L2 c.1488T>C p.His496His Synonymous 13/21 -
2-168107491-A-T XIRP2 c.9589A>T p.Ile3197Phe Missense 9/11 -
2-168107491-A-G XIRP2 c.9589A>G p.Ile3197Val Missense 9/11 -
5-7889216-G-A MTRR c.1155G>A p.Leu385Leu Synonymous 9/15 -
7-128454863-C-T CCDC136 c.2935C>T p.Arg979Trp Missense 15/18 -
16-72830539-C-A ZFHX3 c.6042G>T p.Gln2014His Missense 9/10 -
16-72830539-C-G ZFHX3 c.6042G>C p.Gln2014His Missense 9/10 -
X-118145853-G-A LONRF3 c.1605G>A p.Glu535Glu Synonymous 7/10 -
13-84454391-T-A SLITRK1 c.1252A>T p.Thr418Ser Missense 1/1 -
7-31011677-C-T GHRHR c.564C>T p.His188His Synonymous 6/13 -
2-11755256-C-G GREB1 c.3162C>G p.Ser1054Ser Synonymous 20/33 -
2-11755256-C-T GREB1 c.3162C>T p.Ser1054Ser Synonymous 20/33 -
5-112312580-T-C DCP2 c.1-51T>C - 5-UTRSNV 1/11 -
22-50962514-G-C SCO2 c.327C>G p.His109Gln Missense 2/2 -
1-200818980-C-G CAMSAP2 c.3083C>G p.Pro1028Arg Missense 11/17 -
22-50962514-G-A SCO2 c.327C>T p.His109His Synonymous 2/2 -
16-47294546-C-T ITFG1 c.1131G>A p.Ala377Ala Synonymous 11/18 -
X-140994031-G-T MAGEC1 c.841G>T p.Val281Leu Missense 4/4 -
6-44394257-G-A CDC5L c.1689G>A p.Pro563Pro Synonymous 13/16 -
19-42343084-A-G LYPD4 c.82T>C p.Leu28Leu Synonymous 3/5 -
10-17130199-G-C CUBN c.1911C>G p.Leu637Leu Synonymous 15/67 -
10-17130199-G-A CUBN c.1911C>T p.Leu637Leu Synonymous 15/67 -
X-118239017-C-A KIAA1210 c.1006G>T p.Asp336Tyr Missense 7/14 -
1-206331156-C-T CTSE c.1162C>T p.Arg388Cys Missense 9/9 -
11-134226278-C-T GLB1L2 c.642C>T p.Tyr214Tyr Synonymous 6/20 -
13-103525620-G-A ERCC5 c.2891G>A p.Arg964Gln Missense 14/15 -
18-47788424-C-T CFAP53 c.235G>A p.Val79Met Missense 2/8 -
3-151150568-G-A MED12L c.6414G>A p.Pro2138Pro Synonymous 43/43 -
7-143826865-C-T OR2A14 c.660C>T p.Ile220Ile Synonymous 1/1 -
10-79784331-C-T POLR3A c.621G>A p.Val207Val Synonymous 5/31 -
3-151150568-G-T MED12L c.6414G>T p.Pro2138Pro Synonymous 43/43 -
2-25972894-T-G ASXL2 c.1531A>C p.Asn511His Missense 12/13 -
8-27454686-T-C CLU c.*1072A>G - 3-UTRSNV 9/9 -
3-180705871-C-T DNAJC19 c.69G>A p.Leu23Leu Synonymous 3/6 -
22-31337950-T-C MORC2 c.440A>G p.Asn147Ser Missense 9/27 -
8-145138063-G-A GPAA1 c.111G>A p.Leu37Leu Synonymous 2/12 -
10-105840422-T-C COL17A1 c.10A>G p.Thr4Ala Missense 2/56 -
1-178489903-C-G TEX35 c.437C>G p.Ala146Gly Missense 7/9 -
9-123779781-C-T C5 c.1725G>A p.Leu575Leu Synonymous 14/41 -
8-36694394-C-T KCNU1 c.1449C>T p.Ile483Ile Synonymous 14/27 -
2-166773796-T-C TTC21B c.1870A>G p.Ile624Val Missense 14/29 -
7-142640415-G-A KEL c.1719C>T p.Gly573Gly Synonymous 16/19 -
2-15607826-C-T NBAS c.1980G>A p.Lys660Lys Synonymous 18/52 -
17-48606082-G-A MYCBPAP c.2434G>A - missense_variant 17/19 -
2-20175312-G-A WDR35 c.549C>T p.Tyr183Tyr Synonymous 6/27 -
8-119936669-A-G TNFRSF11B c.1150T>C p.Leu384Leu Synonymous 5/5 -
8-119936669-A-C TNFRSF11B c.1150T>G p.Leu384Val Missense 5/5 -
16-3534831-C-G NAA60 c.705C>G p.Gly235Gly Synonymous 6/7 -
10-55582636-T-C PCDH15 c.4850A>G p.Asn1617Ser Missense 33/33 -
1-31347320-G-C SDC3 c.986C>G p.Thr329Arg Missense 4/5 -
1-223933094-C-T CAPN2 c.513C>T p.Ala171Ala Synonymous 4/21 -
12-50821551-G-A LARP4 c.25G>A p.Ala9Thr Missense 2/16 -
16-2821525-G-A ELOB c.*466C>T - 3-UTRSNV 4/4 -
8-87588198-T-C CNGB3 c.2264A>G p.Glu755Gly Missense 18/18 -
17-42849660-G-A ADAM11 c.569G>A p.Arg190Gln Missense 7/27 -
22-19222154-G-A CLTCL1 c.1045C>T p.Leu349Leu Synonymous 7/33 -
6-161022107-C-T LPA c.2969G>A p.Arg990Gln Missense 19/39 -
16-12798778-C-T CPPED1 c.418G>A p.Glu140Lys Missense 3/4 -
6-152751278-G-T SYNE1 c.4757C>A p.Thr1586Lys Missense 36/146 -
19-45810010-A-G CKM c.1144T>C - Missense 8/8 -
6-152751278-G-A SYNE1 c.4757C>T p.Thr1586Ile Missense 36/146 -
7-25175885-T-C C7orf31 c.1479A>G p.Lys493Lys Synonymous 10/10 -
1-156851382-G-A NTRK1 c.2339G>A p.Arg780Gln Missense 17/17 -
1-43613649-G-T FAM183A c.27G>T p.Val9Val Synonymous 1/4 -
16-23200809-C-G SCNN1G c.435C>G p.Ser145Ser Synonymous 3/13 -
1-156851382-G-C NTRK1 c.2339G>C p.Arg780Pro Missense 17/17 -
19-12874383-C-A HOOK2 c.1969G>T p.Glu657* Nonsense 22/23 -
19-12874383-C-T HOOK2 c.1969G>A p.Glu657Lys Missense 22/23 -
16-69355040-A-G VPS4A c.938A>G p.Asn313Ser Missense 9/11 -
8-125580755-C-T MTSS1 c.483G>A p.Gln161Gln Synonymous 7/14 -
7-99145927-T-C FAM200A c.104A>G p.His35Arg Missense 2/2 -
11-123909099-G-T OR10G7 c.610C>A p.Leu204Ile Missense 1/1 -
11-123909099-G-C OR10G7 c.610C>G p.Leu204Val Missense 1/1 -
1-182874667-T-G SHCBP1L c.1300A>C p.Asn434His Missense 7/10 -
5-139938237-C-T APBB3 c.1415G>A p.Arg472Gln Missense 13/13 -
9-139405154-G-A NOTCH1 c.2691C>T p.Ala897Ala Synonymous 17/34 -
6-136600949-G-A BCLAF1 c.56C>T p.Ser19Phe Missense 3/13 -
8-133764161-G-C TMEM71 c.184C>G p.Arg62Gly Missense 4/10 -
6-136600949-G-T BCLAF1 c.56C>A p.Ser19Tyr Missense 3/13 -
19-12920935-G-A RNASEH2A c.462G>A p.Gln154Gln Synonymous 5/8 -
19-56373462-G-C NLRP4 c.2123G>C p.Arg708Pro Missense 5/10 -
1-216495246-C-T USH2A c.1623G>A p.Glu541Glu Synonymous 9/21 -
20-43851375-G-C SEMG2 c.1102G>C p.Gly368Arg Missense 2/3 -
2-27293041-C-T AGBL5 c.2571C>T p.Ser857Ser Synonymous 15/15 -
10-115343057-G-C HABP2 c.1177G>C p.Glu393Gln Missense 10/13 -
2-152385739-G-A NEB c.16617C>T p.Tyr5539Tyr Synonymous 119/150 -
1-119575687-C-T WARS2 c.930G>A p.Val310Val Synonymous 6/6 -
15-33916136-G-A RYR3 c.2486G>A p.Arg829His Missense 20/104 -
20-62127296-C-T EEF1A2 c.237G>A p.Lys79Lys Synonymous 3/8 -
8-99101976-A-C ERICH5 c.731A>C p.Gln244Pro Missense 2/3 -
7-56087374-C-T PSPH c.194G>A p.Arg65His Missense 5/8 -
18-76886325-A-T ATP9B c.617A>T p.Gln206Leu Missense 5/30 -
9-19786217-G-T SLC24A2 c.648C>A p.Ile216Ile Synonymous 1/10 -
17-79256084-T-G SLC38A10 c.406A>C p.Ile136Leu Missense 5/14 -
17-79256084-T-C SLC38A10 c.406A>G p.Ile136Val Missense 5/14 -
2-241389259-G-A GPC1 c.167-9188G>A - IntronicSNV - 1/8
16-2140972-G-A PKD1 c.11913C>T p.Arg3971Arg Synonymous 43/46 -
1-36181847-C-T C1orf216 c.76G>A p.Glu26Lys Missense 2/2 -
1-179599985-C-T TDRD5 c.1056C>T p.Leu352Leu Synonymous 7/17 -
4-110757287-G-A RRH c.522G>A p.Thr174Thr Synonymous 4/7 -
8-100479817-C-T VPS13B c.3621C>T p.Leu1207Leu Synonymous 24/62 -
9-115598610-A-G SNX30 c.735A>G p.Ile245Met Missense 5/9 -
19-38028579-G-A ZNF793 c.1019G>A p.Arg340His Missense 8/8 -
3-129134242-G-A EFCAB12 c.684C>T p.Val228Val Synonymous 4/9 -
18-74962810-G-T GALR1 c.306G>T p.Val102Val Synonymous 1/3 -
9-130117725-C-T GARNL3 c.1909C>T p.Pro637Ser Missense 20/28 -
10-27687638-C-T PTCHD3 c.1889G>A p.Arg630Gln Missense 4/4 -
X-140993991-T-A MAGEC1 c.801T>A p.Ser267Ser Synonymous 4/4 -
1-100575974-T-C SASS6 c.735A>G p.Gln245Gln Synonymous 8/17 -