PMID: 25469153

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & ageing : I & A
F Villa, A MaciÄ…g, CC Spinelli, A Ferrario, A Carrizzo, A Parisi, A Torella, C Montenero, G Condorelli, C Vecchione, V Nigro, AS Montenero, AA Puca
2014

1701 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
14-102898363-C-T TECPR2 c.1315C>T p.Pro439Ser Missense 8/20 -
6-33690691-C-G IP6K3 c.1039G>C p.Glu347Gln Missense 6/6 -
17-30348768-C-G LRRC37B c.603C>G p.Ser201Arg Missense 1/12 -
17-30348768-C-T LRRC37B c.603C>T p.Ser201Ser Synonymous 1/12 -
17-5461726-C-T NLRP1 c.2290G>A p.Val764Met Missense 4/17 -
11-1651140-T-C KRTAP5-5 c.70T>C p.Cys24Arg Missense 1/1 -
10-25312168-C-T THNSL1 c.16C>T p.Arg6* Nonsense 3/3 -
10-25312168-C-G THNSL1 c.16C>G p.Arg6Gly Missense 3/3 -
2-190719607-G-A PMS1 c.1609G>A p.Glu537Lys Missense 9/13 -
2-240964714-G-C NDUFA10 c.5C>G p.Ala2Gly Missense 1/10 -
1-145293425-C-G NBPF10 c.20C>G p.Pro7Arg Missense 1/86 -
5-825286-G-A ZDHHC11 c.1016C>T p.Thr339Met Missense 8/13 -
7-22532260-A-G STEAP1B c.686T>C p.Ile229Thr Missense 4/5 -
8-7308386-T-G SPAG11B c.*15A>C - 3-UTRSNV 4/4 -
8-7308386-T-A SPAG11B c.*15A>T - 3-UTRSNV 4/4 -
12-48538908-G-A PFKM c.2087G>A p.Arg696His Missense 21/23 -
11-49076898-T-C TRIM64C c.823A>G p.Ile275Val Missense 5/6 -
5-32074573-G-A PDZD2 c.3361G>A p.Val1121Met Missense 18/25 -
11-12316389-A-C MICALCL c.1411A>C p.Thr471Pro Missense 3/9 -
11-73105341-C-T RELT c.767C>T p.Thr256Met Missense 8/11 -
3-51990119-A-C GPR62 c.451A>C p.Thr151Pro Missense 1/1 -
3-51990119-A-G GPR62 c.451A>G p.Thr151Ala Missense 1/1 -
12-11091206-G-C TAS2R14 c.601C>G p.Leu201Val Missense 1/1 -
5-140475980-G-A PCDHB2 c.1606G>A p.Ala536Thr Missense 1/1 -
5-140475980-G-T PCDHB2 c.1606G>T p.Ala536Ser Missense 1/1 -
11-55889895-C-T OR8H3 c.47C>T p.Thr16Met Missense 1/1 -
14-105408811-A-G AHNAK2 c.12977T>C p.Leu4326Pro Missense 7/7 -
7-100677944-T-C MUC17 c.3247T>C p.Ser1083Pro Missense 3/13 -
1-13183249-C-A HNRNPCL2 c.624G>T p.Gln208His Missense 2/2 -
X-153175784-G-A ARHGAP4 c.1997C>T p.Pro666Leu Missense 17/22 -
X-135956462-G-C RBMX c.1015C>G p.Arg339Gly Missense 9/9 -
1-17292975-G-A CROCC c.4769G>A p.Arg1590His Missense 30/37 -
1-17292975-G-T CROCC c.4769G>T p.Arg1590Leu Missense 30/37 -
11-33308469-G-T HIPK3 c.509G>T p.Gly170Val Missense 2/17 -
11-33308469-G-A HIPK3 c.509G>A p.Gly170Glu Missense 2/17 -
19-43680147-C-G PSG5 c.584G>C p.Arg195Pro Missense 3/6 -
19-43680147-C-T PSG5 c.584G>A p.Arg195Gln Missense 3/6 -
2-159672251-C-T DAPL1 c.242C>T p.Ala81Val Missense 4/4 -
17-260299-G-A C17orf97 c.166G>A p.Glu56Lys Missense 1/2 -
10-50669459-C-G ERCC6 c.3922G>C p.Val1308Leu Missense 19/21 -
11-78369281-C-T TENM4 c.8132G>A p.Arg2711Gln Missense 34/34 -
16-336916-C-T PDIA2 c.1504C>T p.Pro502Ser Missense 10/11 -
16-52473564-G-A TOX3 c.1304C>T p.Ser435Leu Missense 7/7 -
7-100678610-A-G MUC17 c.3913A>G p.Thr1305Ala Missense 3/13 -
1-25633210-G-A RHD c.1063G>A p.Gly355Ser Missense 7/10 -
15-65369395-C-T KBTBD13 c.242C>T p.Ala81Val Missense 1/1 -
17-20370767-G-C LGALS9B c.17C>G p.Ser6Cys Missense 1/11 -
17-20370767-G-A LGALS9B c.17C>T p.Ser6Phe Missense 1/11 -
21-46057417-A-T TSPEAR c.83-69528T>A - IntronicSNV - 1/11
21-46057417-A-C TSPEAR c.83-69528T>G - IntronicSNV - 1/11
12-113623241-C-G DDX54 c.16G>C p.Gly6Arg Missense 1/20 -
10-96798669-T-C CYP2C8 c.1276A>G p.Met426Val Missense 8/9 -
3-195506446-G-T MUC4 c.12005C>A p.Pro4002His Missense 2/25 -
10-101295456-T-G NKX2-3 c.1073T>G p.Leu358Trp Missense 2/2 -
1-169510348-T-G F5 c.3980A>C p.His1327Pro Missense 13/25 -
4-184585165-G-C TRAPPC11 c.145G>C p.Val49Leu Missense 2/30 -
8-98656966-G-T MTDH c.232G>T p.Ala78Ser Missense 1/12 -
3-195509573-A-C MUC4 c.8878T>G p.Ser2960Ala Missense 2/25 -
7-128415071-C-T OPN1SW c.490G>A p.Val164Ile Missense 2/5 -
16-89883007-A-C FANCA c.17T>G p.Val6Gly Missense 1/43 -
21-34924550-G-T SON c.3013G>T p.Ala1005Ser Missense 3/12 -
13-48985639-C-A RB1 c.1695+30060C>A - IntronicSNV - 17/26
12-53876569-C-T MAP3K12 c.1919G>A p.Gly640Asp Missense 12/15 -
X-135956506-C-G RBMX c.971G>C p.Arg324Pro Missense 9/9 -
3-122103141-C-T FAM162A c.29C>T p.Ala10Val Missense 1/5 -
19-51919321-T-C SIGLEC10 c.855A>G p.Thr285Thr Synonymous 5/11 -
19-38894102-G-A FAM98C c.190G>A p.Ala64Thr Missense 2/8 -
8-11990314-G-A USP17L7 c.1205C>T p.Pro402Leu Missense 1/1 -
8-11990314-G-C USP17L7 c.1205C>G p.Pro402Arg Missense 1/1 -
19-9009640-C-T MUC16 c.39086G>A p.Arg13029His Missense 39/84 -
X-44091831-C-T EFHC2 c.1516G>A p.Glu506Lys Missense 10/15 -
3-53914093-G-A ACTR8 c.167C>T p.Thr56Ile Missense 2/13 -
16-4391463-C-T CORO7-PAM16 c.2900G>A p.Arg967Gln Missense 29/31 -
5-82816190-A-G VCAN c.2065A>G p.Thr689Ala Missense 7/15 -
19-35719076-C-T FAM187B c.508G>A p.Glu170Lys Missense 1/2 -
4-70080139-C-T UGT2B11 c.302G>A p.Arg101Gln Missense 1/6 -
9-110249816-G-A KLF4 c.859C>T p.His287Tyr Missense 3/5 -
9-125895238-C-T STRBP c.1741G>A p.Val581Ile Missense 17/19 -
17-39305820-C-T KRTAP4-5 c.200G>A p.Arg67His Missense 1/1 -
17-39305820-C-G KRTAP4-5 c.200G>C p.Arg67Pro Missense 1/1 -
6-74496984-A-G CD109 c.2365A>G p.Lys789Glu Missense 21/33 -
22-37964429-T-A CDC42EP1 c.778T>A p.Ser260Thr Missense 3/3 -
11-94326720-A-G PIWIL4 c.1063A>G p.Met355Val Missense 9/20 -
3-49723750-A-C MST1 c.1012T>G p.Cys338Gly Missense 8/18 -
3-49723750-A-G MST1 c.1012T>C p.Cys338Arg Missense 8/18 -
6-35285719-A-C DEF6 c.859A>C p.Asn287His Missense 6/11 -
11-49208267-G-A FOLH1 c.568C>T p.Arg190Trp Missense 5/19 -
3-52852106-C-T ITIH4 c.2258G>A p.Arg753His Missense 20/24 -
3-52852106-C-A ITIH4 c.2258G>T p.Arg753Leu Missense 20/24 -
12-113623241-C-T DDX54 c.16G>A p.Gly6Ser Missense 1/20 -
18-76754584-G-A SALL3 c.2593G>A p.Val865Met Missense 2/3 -
19-14590279-G-C GIPC1 c.713C>G p.Thr238Ser Missense 7/9 -
12-15834192-T-A EPS8 c.104A>T p.His35Leu Missense 3/21 -
12-15834192-T-C EPS8 c.104A>G p.His35Arg Missense 3/21 -
3-52282458-C-G PPM1M c.903C>G p.His301Gln Missense 6/10 -
4-89352440-A-C HERC6 c.2125A>C p.Met709Leu Missense 16/22 -
11-47270313-G-T ACP2 c.28C>A p.Arg10Arg Synonymous 1/11 -
12-8329652-A-T ZNF705A c.376A>T p.Thr126Ser Missense 5/5 -
12-8329652-A-G ZNF705A c.376A>G p.Thr126Ala Missense 5/5 -
2-241621869-G-T AQP12B c.386C>A p.Thr129Lys Missense 1/3 -
2-241621869-G-A AQP12B c.386C>T p.Thr129Met Missense 1/3 -
17-5461726-C-G NLRP1 c.2290G>C p.Val764Leu Missense 4/17 -
19-48602995-G-A PLA2G4C c.410C>T p.Ala137Val Missense 5/17 -
1-15794011-A-G CELA2A c.770A>G p.Asn257Ser Missense 7/8 -
4-107157623-G-A TBCK c.1085C>T p.Thr362Met Missense 12/24 -
9-34256375-G-T KIF24 c.3230C>A p.Thr1077Lys Missense 11/13 -
9-35841510-C-G TMEM8B c.1-926C>G - IntronicSNV - 1/10
6-20490428-G-T E2F3 c.772G>T p.Asp258Tyr Missense 7/7 -
10-127462934-G-A MMP21 c.163C>T p.Arg55Trp Missense 2/7 -
8-68421768-G-C CPA6 c.518C>G p.Ser173Cys Missense 5/11 -
14-105415608-G-A AHNAK2 c.6180C>T p.His2060His Synonymous 7/7 -
16-11781741-G-C TXNDC11 c.2125C>G p.Leu709Val Missense 10/12 -
11-1619396-C-T KRTAP5-2 c.85G>A p.Gly29Arg Missense 1/1 -
9-39171471-C-T CNTNAP3 c.1228G>A p.Gly410Ser Missense 8/24 -
11-102201850-G-A BIRC3 c.1202G>A p.Arg401Lys Missense 6/9 -
11-124135662-A-G OR8G5 c.940A>G p.Thr314Ala Missense 1/1 -
3-12192749-G-T SYN2 c.321G>T p.Trp107Cys Missense 2/14 -
3-12192749-G-A SYN2 c.321G>A p.Trp107* Nonsense 2/14 -
14-64518321-A-G SYNE2 c.7690A>G p.Ile2564Val Missense 48/116 -
17-33491164-A-T UNC45B c.1130A>T p.Lys377Met Missense 8/19 -
17-33491164-A-G UNC45B c.1130A>G p.Lys377Arg Missense 8/19 -
16-3708192-C-G TRAP1 c.2053G>C p.Asp685His Missense 18/18 -
8-74334931-A-C STAU2 c.1537T>G p.Leu513Val Missense 14/15 -
8-74334931-A-T STAU2 c.1537T>A p.Leu513Ile Missense 14/15 -
16-19726275-C-T KNOP1 c.83G>A p.Arg28Gln Missense 2/5 -
21-11049623-T-C BAGE2 c.280-2A>G - IntronicSNV - 3/9
16-72094221-C-T HP c.653C>T p.Ala218Val Missense 7/7 -
16-72094221-C-A HP c.653C>A p.Ala218Asp Missense 7/7 -
1-233802497-G-A KCNK1 c.512G>A p.Arg171His Missense 2/3 -
X-26157773-A-G MAGEB18 c.671A>G p.Asn224Ser Missense 2/3 -
22-38477275-G-A SLC16A8 c.770C>T p.Ala257Val Missense 4/5 -
12-66704276-A-C HELB c.1568A>C p.Gln523Pro Missense 4/14 -
17-33768381-T-C SLFN13 c.1927A>G p.Arg643Gly Missense 6/6 -
3-27436597-G-A SLC4A7 c.2686C>T p.Pro896Ser Missense 19/25 -
2-130949511-C-T TUBA3E c.1246G>A p.Gly416Arg Missense 5/5 -
3-123440977-T-C MYLK c.1802A>G p.His601Arg Missense 13/34 -
10-70992634-C-A HKDC1 c.341C>A p.Thr114Lys Missense 3/18 -
10-70992634-C-T HKDC1 c.341C>T p.Thr114Met Missense 3/18 -
6-12290906-G-T EDN1 c.44G>T p.Cys15Phe Missense 1/5 -
6-12290906-G-C EDN1 c.44G>C p.Cys15Ser Missense 1/5 -
16-20396159-T-C PDILT c.217A>G p.Lys73Glu Missense 3/12 -
1-152185824-G-T HRNR c.8281C>A p.Arg2761Arg Synonymous 3/3 -
1-152185824-G-A HRNR c.8281C>T p.Arg2761* Nonsense 3/3 -
19-13869786-G-A CCDC130 c.362G>A p.Arg121His Missense 7/10 -
21-10959771-A-G TPTE c.203T>C p.Val68Ala Missense 8/24 -
21-10959771-A-T TPTE c.203T>A p.Val68Asp Missense 8/24 -
12-58201263-C-T AVIL c.1342G>A p.Ala448Thr Missense 12/19 -
22-31008867-T-C TCN2 c.265T>C p.Phe89Leu Missense 3/9 -
20-60893697-C-T LAMA5 c.7052G>A p.Arg2351Gln Missense 53/80 -
17-74276788-T-C QRICH2 c.3910A>G p.Lys1304Glu Missense 10/19 -
17-16068340-C-T NCOR1 c.571G>A p.Glu191Lys Missense 5/46 -
19-53116940-T-A ZNF83 c.878A>T p.Glu293Val Missense 3/3 -
19-58084588-G-A ZNF416 c.684C>T p.His228His Synonymous 4/4 -
19-58084588-G-C ZNF416 c.684C>G p.His228Gln Missense 4/4 -
21-35514749-A-T MRPS6 c.227A>T p.Glu76Val Missense 3/3 -
17-5037281-T-C USP6 c.484T>C p.Tyr162His Missense 7/30 -
6-108395700-C-G OSTM1 c.156G>C p.Leu52Phe Missense 1/6 -
2-46603764-T-A EPAS1 c.1121T>A p.Phe374Tyr Missense 9/16 -
10-102824292-G-A KAZALD1 c.707G>A p.Gly236Asp Missense 4/5 -
1-161172233-C-T NDUFS2 c.58C>T p.Pro20Ser Missense 2/15 -
1-161172233-C-A NDUFS2 c.58C>A p.Pro20Thr Missense 2/15 -
1-161172233-C-G NDUFS2 c.58C>G p.Pro20Ala Missense 2/15 -
7-27170145-T-A HOXA4 c.208A>T p.Thr70Ser Missense 1/2 -
7-27170145-T-G HOXA4 c.208A>C p.Thr70Pro Missense 1/2 -
7-135376041-G-A SLC13A4 c.1351C>T p.Pro451Ser Missense 13/16 -
17-7220881-C-A NEURL4 c.4217G>T p.Arg1406Leu Missense 27/29 -
17-9408381-C-T STX8 c.422G>A p.Arg141Gln Missense 5/8 -
20-1592215-C-G SIRPB1 c.76+8300G>C - IntronicSNV - 1/5
1-213058700-T-G FLVCR1 c.1158T>G p.Ile386Met Missense 5/10 -
1-16070763-C-T TMEM82 c.445C>T p.Arg149Cys Missense 4/6 -
19-14507976-G-A ADGRE5 c.566G>A p.Arg189His Missense 6/20 -
18-60021761-C-T TNFRSF11A c.421C>T p.His141Tyr Missense 4/9 -
19-17036087-C-T CPAMD8 c.3466G>A - missense_variant 26/42 -
7-42005678-G-C GLI3 c.2993C>G p.Pro998Arg Missense 15/15 -
7-42005678-G-A GLI3 c.2993C>T p.Pro998Leu Missense 15/15 -
10-49658943-G-A ARHGAP22 c.1229C>T p.Thr410Met Missense 9/10 -
17-36889559-C-T CISD3 c.235C>T p.Arg79Cys Missense 4/4 -
3-125648209-C-T ALG1L c.550G>A p.Gly184Ser Missense 6/6 -
14-105417766-G-A AHNAK2 c.4022C>T p.Ser1341Phe Missense 7/7 -
14-105417766-G-C AHNAK2 c.4022C>G p.Ser1341Cys Missense 7/7 -
3-52420315-C-G DNAH1 c.8765C>G p.Ala2922Gly Missense 55/78 -
3-52420315-C-T DNAH1 c.8765C>T p.Ala2922Val Missense 55/78 -
3-98073065-A-C OR5K4 c.368A>C p.Tyr123Ser Missense 1/1 -
2-208632817-G-T FZD5 c.647C>A p.Pro216His Missense 2/2 -
14-105415608-G-C AHNAK2 c.6180C>G p.His2060Gln Missense 7/7 -
11-102248406-A-G BIRC2 c.1546A>G p.Lys516Glu Missense 7/9 -
2-208632817-G-A FZD5 c.647C>T p.Pro216Leu Missense 2/2 -
11-51411918-C-A OR4A5 c.478G>T p.Val160Leu Missense 1/1 -
11-51411918-C-T OR4A5 c.478G>A p.Val160Met Missense 1/1 -
12-113730816-C-T TPCN1 c.2191C>T p.Arg731Trp Missense 26/28 -
19-2222325-G-A DOT1L c.3157G>A p.Ala1053Thr Missense 24/28 -
19-40408821-C-G FCGBP c.4018G>C p.Val1340Leu Missense 8/36 -
9-21207000-C-G IFNA10 c.97G>C p.Gly33Arg Missense 1/1 -
11-551204-C-T LRRC56 c.698C>T p.Pro233Leu Missense 9/14 -
1-1271853-G-C DVL1 c.1682C>G p.Pro561Arg Missense 15/15 -
1-144952207-C-T PDE4DIP c.923G>A p.Arg308Lys Missense 7/7 -
3-195506750-G-C MUC4 c.11701C>G p.His3901Asp Missense 2/25 -
11-2424647-G-A TSSC4 c.784G>A p.Gly262Arg Missense 3/3 -
10-76855417-C-T DUSP13 c.*618G>A - 3_prime_UTR_variant 7/8 -
9-126136139-C-T CRB2 c.3329C>T p.Thr1110Met Missense 10/13 -
19-21606719-C-A ZNF493 c.874C>A p.Leu292Ile Missense 2/2 -
19-21606719-C-G ZNF493 c.874C>G p.Leu292Val Missense 2/2 -
4-8418148-T-G ACOX3 c.101A>C p.Glu34Ala Missense 2/17 -
1-222801661-A-T MIA3 c.1099A>T p.Thr367Ser Missense 4/28 -
12-108956418-T-A ISCU c.-152T>A - 5_prime_UTR_variant 1/6 -
12-108956418-T-G ISCU c.-152T>G - 5_prime_UTR_variant 1/6 -
9-21207000-C-A IFNA10 c.97G>T p.Gly33Cys Missense 1/1 -
9-21207000-C-T IFNA10 c.97G>A p.Gly33Ser Missense 1/1 -
11-551204-C-G LRRC56 c.698C>G p.Pro233Arg Missense 9/14 -
17-5037195-G-C USP6 c.398G>C p.Arg133Thr Missense 7/30 -
9-133995629-A-G AIF1L c.373A>G p.Met125Val Missense 6/6 -
7-27170145-T-C HOXA4 c.208A>G p.Thr70Ala Missense 1/2 -
7-48314151-C-G ABCA13 c.4888C>G p.Leu1630Val Missense 17/62 -
9-97082699-G-A NUTM2F c.1159C>T p.Pro387Ser Missense 5/7 -
5-148206885-C-T ADRB2 c.491C>T p.Thr164Ile Missense 1/1 -
11-85436439-A-G SYTL2 c.1061T>C p.Phe354Ser Missense 7/20 -
22-24579157-G-T SUSD2 c.209G>T p.Gly70Val Missense 2/15 -
15-83502065-A-C WHAMM c.2207A>C p.His736Pro Missense 10/10 -
15-83502065-A-G WHAMM c.2207A>G p.His736Arg Missense 10/10 -
11-49186274-G-A FOLH1 c.1423C>T p.His475Tyr Missense 13/19 -
12-129190266-G-A TMEM132C c.2753G>A p.Arg918Gln Missense 9/9 -
11-48285770-C-G OR4X1 c.358C>G p.Arg120Gly Missense 1/1 -
12-129190266-G-C TMEM132C c.2753G>C p.Arg918Pro Missense 9/9 -
17-37840860-G-C PGAP3 c.422C>G p.Ala141Gly Missense 3/8 -
16-50338341-C-T ADCY7 c.1439C>T p.Ala480Val Missense 11/26 -
11-48285770-C-T OR4X1 c.358C>T p.Arg120Cys Missense 1/1 -
3-195509402-T-C MUC4 c.9049A>G p.Ile3017Val Missense 2/25 -
7-144015437-C-T OR2A1 c.220C>T p.Arg74Cys Missense 1/1 -
12-11546192-G-A PRB2 c.820C>T p.Pro274Ser Missense 3/4 -
3-195509402-T-A MUC4 c.9049A>T p.Ile3017Leu Missense 2/25 -
14-105414343-C-G AHNAK2 c.7445G>C p.Arg2482Thr Missense 7/7 -
2-185803445-G-A ZNF804A c.3322G>A p.Ala1108Thr Missense 4/4 -
4-2044128-C-T C4orf48 c.50C>T p.Pro17Leu Missense 2/4 -
7-100684593-G-A MUC17 c.9896G>A p.Ser3299Asn Missense 3/13 -
2-107049447-C-T RGPD3 c.2413G>A p.Ala805Thr Missense 17/23 -
4-70156313-T-A UGT2B28 c.1094T>A p.Leu365His Missense 5/6 -
4-70156313-T-G UGT2B28 c.1094T>G p.Leu365Arg Missense 5/6 -
2-48026308-C-G MSH6 c.1186C>G p.Leu396Val Missense 4/10 -
20-2082732-C-G STK35 c.205C>G p.Arg69Gly Missense 1/4 -
21-34923375-G-C SON c.1838G>C p.Gly613Ala Missense 3/12 -
8-143996539-T-C CYP11B2 c.518A>G p.Lys173Arg Missense 3/9 -
1-248458717-C-G OR2T12 c.164G>C p.Arg55Thr Missense 1/1 -
1-248458717-C-A OR2T12 c.164G>T p.Arg55Met Missense 1/1 -
1-42880442-G-A RIMKLA c.973G>A p.Glu325Lys Missense 5/5 -
22-24579049-G-A SUSD2 c.101G>A p.Arg34His Missense 2/15 -
22-24579049-G-C SUSD2 c.101G>C p.Arg34Pro Missense 2/15 -
20-2082732-C-T STK35 c.205C>T p.Arg69Trp Missense 1/4 -
6-43172498-G-T CUL9 c.4352G>T p.Ser1451Ile Missense 22/41 -
1-248458717-C-T OR2T12 c.164G>A p.Arg55Lys Missense 1/1 -
17-7948239-C-T ALOX15B c.769C>T p.Leu257Phe Missense 6/13 -
11-123676777-C-T OR6M1 c.281G>A p.Gly94Asp Missense 1/1 -
14-105417396-C-G AHNAK2 c.4392G>C p.Glu1464Asp Missense 7/7 -
11-71507205-C-T FAM86C1 c.302C>T p.Pro101Leu Missense 3/4 -
2-118579599-A-G DDX18 c.913A>G p.Ile305Val Missense 6/14 -
4-70079975-A-C UGT2B11 c.466T>G p.Cys156Gly Missense 1/6 -
4-70079975-A-G UGT2B11 c.466T>C p.Cys156Arg Missense 1/6 -
8-10467637-T-C RP1L1 c.3971A>G p.Glu1324Gly Missense 4/4 -
1-3679886-C-G CCDC27 c.1169C>G p.Pro390Arg Missense 7/12 -
3-107491892-G-T BBX c.1324G>T p.Ala442Ser Missense 11/17 -
1-226076669-C-T LEFTY1 c.98G>A p.Arg33Gln Missense 1/4 -
20-58455447-A-G SYCP2 c.2852T>C p.Ile951Thr Missense 31/45 -
X-153418514-G-A OPN1LW c.511G>A p.Val171Met Missense 3/6 -
7-100677816-G-A MUC17 c.3119G>A p.Gly1040Glu Missense 3/13 -
7-100677816-G-T MUC17 c.3119G>T p.Gly1040Val Missense 3/13 -
19-38190686-A-G ZNF607 c.346T>C p.Cys116Arg Missense 5/5 -
7-100677988-T-G MUC17 c.3291T>G p.Ser1097Arg Missense 3/13 -
8-144997783-G-A PLEC c.6395C>T p.Ala2132Val Missense 32/33 -
1-240371554-A-C FMN2 c.3442A>C p.Arg1148Arg Synonymous 5/18 -
1-240371554-A-G FMN2 c.3442A>G p.Arg1148Gly Missense 5/18 -
X-49179711-A-G GAGE12J c.39A>G p.Arg13Arg Synonymous 2/5 -
12-110221524-C-T TRPV4 c.2518G>A p.Glu840Lys Missense 16/16 -
5-79950781-A-G DHFR c.1-473T>C - 5-UTRSNV 1/6 -
17-15532147-G-A TRIM16 c.1477C>T p.Arg493Trp Missense 9/9 -
14-105418504-G-T AHNAK2 c.3284C>A p.Ala1095Asp Missense 7/7 -
2-43902757-C-G C1GALT1C1L c.705G>C p.Glu235Asp Missense 1/1 -
5-79950781-A-T DHFR c.1-473T>A - 5-UTRSNV 1/6 -
18-712568-G-C ENOSF1 c.20C>G p.Ser7Cys Missense 1/16 -
17-39521248-A-C KRT33B c.880T>G p.Tyr294Asp Missense 6/7 -
2-70528033-C-T FAM136A c.167G>A p.Arg56His Missense 2/3 -
2-241621869-G-C AQP12B c.386C>G p.Thr129Arg Missense 1/3 -
3-12183451-A-C SYN2 c.106A>C p.Met36Leu Missense 1/14 -
3-12183451-A-T SYN2 c.106A>T p.Met36Leu Missense 1/14 -
17-39619186-G-C KRT32 c.1113C>G p.Asp371Glu Missense 6/7 -
5-52229745-T-G ITGA1 c.2883T>G p.Ile961Met Missense 23/29 -
4-2195009-G-A POLN c.943C>T p.Pro315Ser Missense 7/26 -
5-140869229-G-T PCDHGC3 c.2431-5145G>T - IntronicSNV - 1/3
10-43319197-G-A BMS1 c.3421G>A p.Val1141Ile Missense 21/23 -
2-21232455-A-T APOB c.7285T>A p.Ser2429Thr Missense 26/29 -
2-21232455-A-C APOB c.7285T>G p.Ser2429Ala Missense 26/29 -
5-41909884-C-A C5orf51 c.244C>A p.Leu82Ile Missense 3/6 -
22-35789508-C-T HMOX1 c.784C>T p.Arg262Cys Missense 5/5 -
5-141021096-G-A FCHSD1 c.2042C>T p.Pro681Leu Missense 20/20 -
16-3613436-C-T NLRC3 c.1502G>A p.Arg501Gln Missense 5/21 -
17-30348768-C-A LRRC37B c.603C>A p.Ser201Arg Missense 1/12 -
18-21424991-C-A LAMA3 c.3622C>A p.Pro1208Thr Missense 30/75 -
7-99817585-G-T PVRIG c.52G>T p.Glu18* Nonsense 2/6 -
X-135956462-G-A RBMX c.1015C>T p.Arg339Cys Missense 9/9 -
11-51516191-G-A OR4C46 c.910G>A p.Asp304Asn Missense 1/1 -
19-43244485-G-C PSG3 c.52C>G p.Leu18Val Missense 1/7 -
6-20490428-G-A E2F3 c.772G>A p.Asp258Asn Missense 7/7 -
11-18159668-T-C MRGPRX3 c.919T>C p.Trp307Arg Missense 3/3 -
1-89521841-G-A GBP1 c.1226C>T p.Ala409Val Missense 8/11 -
1-89521841-G-C GBP1 c.1226C>G p.Ala409Gly Missense 8/11 -
1-152800124-G-T LCE1A c.176G>T p.Gly59Val Missense 1/1 -
1-152800124-G-A LCE1A c.176G>A p.Gly59Asp Missense 1/1 -
6-136582401-A-T BCLAF1 c.2757+2T>A - IntronicSNV - 12/12
7-72413423-C-G POM121 c.2096C>G p.Pro699Arg Missense 14/16 -
3-58134505-A-G FLNB c.6017A>G p.Lys2006Arg Missense 36/46 -
7-72413423-C-T POM121 c.2096C>T p.Pro699Leu Missense 14/16 -
7-72413423-C-A POM121 c.2096C>A p.Pro699Gln Missense 14/16 -
2-170068502-T-A LRP2 c.6256A>T p.Thr2086Ser Missense 37/79 -
16-1291175-G-T TPSAB1 c.83G>T p.Arg28Leu Missense 3/6 -
19-22156482-G-T ZNF208 c.1354C>A p.Pro452Thr Missense 4/4 -
3-195513364-C-G MUC4 c.5087G>C p.Arg1696Pro Missense 2/25 -
3-195513364-C-T MUC4 c.5087G>A p.Arg1696His Missense 2/25 -
19-22156482-G-A ZNF208 c.1354C>T p.Pro452Ser Missense 4/4 -
17-6703384-C-G TEKT1 c.1219G>C p.Val407Leu Missense 8/8 -
12-88472996-C-T CEP290 c.5237G>A p.Arg1746Gln Missense 39/54 -
14-22102374-T-C OR10G2 c.625A>G p.Arg209Gly Missense 1/1 -
1-16355638-T-A CLCNKA c.1071T>A p.His357Gln Missense 12/20 -
15-65756196-G-T DPP8 c.1874C>A p.Thr625Asn Missense 15/18 -
19-41497272-A-T CYP2B6 c.62A>T p.Gln21Leu Missense 1/9 -
17-3664361-T-C ITGAE c.544A>G p.Lys182Glu Missense 6/31 -
16-336916-C-A PDIA2 c.1504C>A p.Pro502Thr Missense 10/11 -
3-98188580-C-T OR5K1 c.160C>T p.Arg54Trp Missense 1/1 -
12-132283582-G-C SFSWAP c.2718G>C p.Arg906Ser Missense 17/18 -
15-34647875-T-G NUTM1 c.1582T>G p.Ser528Ala Missense 8/8 -
11-4616062-C-T OR52I1 c.794C>T p.Ala265Val Missense 1/1 -
19-44515074-C-A ZNF230 c.883C>A p.Leu295Ile Missense 5/5 -
2-85571458-C-T RETSAT c.1270G>A p.Val424Ile Missense 8/11 -
12-132283582-G-T SFSWAP c.2718G>T p.Arg906Ser Missense 17/18 -
10-121196335-G-C GRK5 c.911G>C p.Arg304Pro Missense 9/16 -
10-121196335-G-A GRK5 c.911G>A p.Arg304His Missense 9/16 -
14-105398392-G-C PLD4 c.1102G>C p.Gly368Arg Missense 9/11 -
14-105398392-G-T PLD4 c.1102G>T p.Gly368Cys Missense 9/11 -
7-100677988-T-A MUC17 c.3291T>A p.Ser1097Arg Missense 3/13 -
2-167108385-C-T SCN9A c.3329G>A p.Arg1110Gln Missense 18/27 -
11-55111500-T-C OR4A16 c.824T>C p.Ile275Thr Missense 1/1 -
12-94603406-G-C PLXNC1 c.1480G>C p.Glu494Gln Missense 5/31 -
8-108334162-G-T ANGPT1 c.770C>A p.Thr257Lys Missense 4/9 -
1-16384999-G-A FAM131C c.776C>T p.Pro259Leu Missense 7/7 -
3-49832788-G-A CDHR4 c.872C>T p.Thr291Met Missense 8/19 -
19-40376880-T-C FCGBP c.11542A>G p.Lys3848Glu Missense 24/36 -
18-8806925-A-G MTCL1 c.2471A>G p.Lys824Arg Missense 11/17 -
7-100637338-G-A MUC12 c.3494G>A p.Arg1165Gln Missense 2/12 -
4-66509085-T-G EPHA5 c.242A>C p.Asn81Thr Missense 2/18 -
20-62701627-G-A TCEA2 c.451G>A p.Val151Ile Missense 8/11 -
15-43724532-T-A TP53BP1 c.3535A>T p.Ile1179Leu Missense 17/28 -
18-59713173-A-C PIGN c.2712T>G p.Phe904Leu Missense 31/31 -
15-91424905-G-A FURIN c.2182G>A p.Val728Ile Missense 16/16 -
19-40376880-T-G FCGBP c.11542A>C p.Lys3848Gln Missense 24/36 -
1-89449298-C-T KYAT3 c.99+4637G>A - IntronicSNV - 2/13
5-110428085-C-T WDR36 c.99C>T p.Asp33Asp Synonymous 1/23 -
9-113275227-C-T SVEP1 c.1282G>A p.Gly428Ser Missense 5/48 -
3-195506446-G-A MUC4 c.12005C>T p.Pro4002Leu Missense 2/25 -
6-52303361-G-T EFHC1 c.545G>T p.Arg182Leu Missense 3/11 -
11-130058437-G-A ST14 c.254G>A p.Arg85His Missense 3/19 -
10-50819567-G-A SLC18A3 c.781G>A p.Ala261Thr Missense 1/1 -
10-50819567-G-C SLC18A3 c.781G>C p.Ala261Pro Missense 1/1 -
5-140627020-G-T PCDHB15 c.1874G>T p.Arg625Leu Missense 1/1 -
19-40406029-C-T FCGBP c.4817G>A p.Arg1606Gln Missense 10/36 -
10-135341012-C-G CYP2E1 c.113C>G p.Pro38Arg Missense 1/9 -
10-135341012-C-T CYP2E1 c.113C>T p.Pro38Leu Missense 1/9 -
3-195509573-A-G MUC4 c.8878T>C p.Ser2960Pro Missense 2/25 -
2-31215798-C-T GALNT14 c.205G>A p.Val69Ile Missense 2/15 -
6-52303361-G-A EFHC1 c.545G>A p.Arg182His Missense 3/11 -
5-140627020-G-A PCDHB15 c.1874G>A p.Arg625His Missense 1/1 -
6-158923120-C-A TULP4 c.2425C>A p.Pro809Thr Missense 13/14 -
5-176759170-C-G LMAN2 c.988G>C p.Ala330Pro Missense 8/8 -
20-57597971-G-A TUBB1 c.129G>A p.Gln43Gln Synonymous 2/4 -
6-152464786-G-C SYNE1 c.25091C>G p.Pro8364Arg Missense 138/146 -
6-152464786-G-A SYNE1 c.25091C>T p.Pro8364Leu Missense 138/146 -
11-1272167-C-G MUC5B c.14057C>G p.Thr4686Arg Missense 31/49 -
9-33385690-G-A AQP7 c.700C>T p.Arg234Cys Missense 7/8 -
19-12186921-T-C ZNF844 c.986T>C p.Val329Ala Missense 4/4 -
10-50824106-C-G CHAT c.287-442C>G - IntronicSNV - 1/14
17-16097825-T-G NCOR1 c.59A>C p.Tyr20Ser Missense 2/46 -
5-140222157-A-T PCDHA1 c.2394+53888A>T - IntronicSNV - 1/3
5-140222157-A-C PCDHA1 c.2394+53888A>C - IntronicSNV - 1/3
11-120340060-A-G ARHGEF12 c.2918A>G p.Tyr973Cys Missense 30/41 -
1-92446927-G-A BRDT c.1853G>A p.Arg618His Missense 11/19 -
11-120340060-A-T ARHGEF12 c.2918A>T p.Tyr973Phe Missense 30/41 -
16-70694056-C-G IL34 c.695C>G p.Pro232Arg Missense 7/7 -
5-140476653-G-A PCDHB2 c.2279G>A p.Gly760Asp Missense 1/1 -
22-18354783-T-G MICAL3 c.2248A>C p.Met750Leu Missense 16/20 -
14-105407525-G-A AHNAK2 c.14263C>T p.Pro4755Ser Missense 7/7 -
2-130832292-T-A POTEF c.2753A>T p.Tyr918Phe Missense 17/17 -
2-130832292-T-C POTEF c.2753A>G p.Tyr918Cys Missense 17/17 -
9-140773504-A-C CACNA1B c.285-2A>C - IntronicSNV - 1/46
16-70161263-T-C PDPR c.328T>C p.Tyr110His Missense 4/19 -
20-57597970-A-C TUBB1 c.128A>C p.Gln43Pro Missense 2/4 -
1-12942119-C-T PRAMEF4 c.431G>A p.Arg144Lys Missense 3/4 -
19-53116949-T-C ZNF83 c.869A>G p.Lys290Arg Missense 3/3 -
1-100661842-T-C DBT c.1418A>G p.Asn473Ser Missense 11/11 -
2-209302328-C-T PTH2R c.245C>T p.Ser82Leu Missense 3/13 -
17-18391003-G-A LGALS9C c.376G>A p.Val126Met Missense 4/11 -
7-100637338-G-C MUC12 c.3494G>C p.Arg1165Pro Missense 2/12 -
3-195506747-C-T MUC4 c.11704G>A p.Ala3902Thr Missense 2/25 -
5-177019262-C-G TMED9 c.47C>G p.Thr16Ser Missense 1/5 -
2-179549131-C-T TTN c.28916G>A p.Arg9639Lys Missense 129/312 -
12-31237978-C-T DDX11 c.556C>T p.Arg186Trp Missense 5/27 -
12-52682218-C-T KRT81 c.662G>A p.Arg221His Missense 4/9 -
19-40519905-G-C ZNF546 c.728G>C p.Arg243Thr Missense 7/7 -
19-43244485-G-T PSG3 c.52C>A p.Leu18Ile Missense 1/7 -
5-167474474-A-G TENM2 c.1229A>G p.Asp410Gly Missense 7/30 -
15-73029268-A-T BBS4 c.1414A>T p.Met472Leu Missense 15/16 -
15-73029268-A-G BBS4 c.1414A>G p.Met472Val Missense 15/16 -
2-109276099-G-A LIMS1 c.35G>A p.Arg12His Missense 2/10 -
3-124567186-G-A ITGB5 c.581C>T p.Ala194Val Missense 4/15 -
6-32629920-C-T HLA-DQB1 c.485G>A p.Arg162Gln Missense 3/5 -
3-125648283-A-G ALG1L c.476T>C p.Ile159Thr Missense 6/6 -
20-36640870-C-A TTI1 c.1349G>T p.Arg450Leu Missense 3/9 -
16-67685730-A-G CARMIL2 c.2570A>G p.Asp857Gly Missense 25/38 -
16-67685730-A-T CARMIL2 c.2570A>T p.Asp857Val Missense 25/38 -
16-67685730-A-C CARMIL2 c.2570A>C p.Asp857Ala Missense 25/38 -
19-51602298-C-G CTU1 c.607G>C p.Glu203Gln Missense 3/3 -
11-71498671-G-C FAM86C1 c.89G>C p.Arg30Pro Missense 1/4 -
7-1024855-G-A CYP2W1 c.541G>A p.Ala181Thr Missense 4/9 -
17-79225056-T-A SLC38A10 c.2302A>T p.Met768Leu Missense 14/14 -
17-79225056-T-C SLC38A10 c.2302A>G p.Met768Val Missense 14/14 -
2-73438037-G-A NOTO c.736G>A p.Glu246Lys Missense 3/3 -
19-13411451-T-G CACNA1A c.2204A>C p.Glu735Ala Missense 18/48 -
22-19511925-G-A CLDN5 c.109C>T p.Gln37* Nonsense 2/2 -
7-100636461-C-T MUC12 c.2617C>T p.Pro873Ser Missense 2/12 -
8-10467605-C-T RP1L1 c.4003G>A p.Gly1335Arg Missense 4/4 -
7-100636461-C-A MUC12 c.2617C>A p.Pro873Thr Missense 2/12 -
19-14952560-G-T OR7A10 c.130C>A p.Leu44Ile Missense 1/1 -
5-174948943-C-T SFXN1 c.796C>T p.Pro266Ser Missense 9/11 -
15-40544520-G-T C15orf56 c.452C>A p.Pro151Gln Missense 2/2 -
20-61288593-G-A SLCO4A1 c.787G>A p.Val263Ile Missense 2/12 -
16-1278745-C-T TPSB2 c.734G>A p.Gly245Glu Missense 7/7 -
15-40544520-G-C C15orf56 c.452C>G p.Pro151Arg Missense 2/2 -
15-40544520-G-A C15orf56 c.452C>T p.Pro151Leu Missense 2/2 -
8-10469030-G-A RP1L1 c.2578C>T p.Arg860Trp Missense 4/4 -
11-7717233-G-A OVCH2 c.1166C>T p.Pro389Leu Missense 11/16 -
17-79225026-C-T SLC38A10 c.2332G>A p.Ala778Thr Missense 14/14 -
5-140559596-T-C PCDHB8 c.1981T>C p.Leu661Leu Synonymous 1/1 -
13-31540447-C-A TEX26 c.558C>A p.Tyr186* Nonsense 5/7 -
19-991129-G-C WDR18 c.790G>C p.Val264Leu Missense 6/10 -
1-145365372-C-G NBPF10 c.10216C>G - missense_variant 82/86 -
13-21750534-G-A SKA3 c.83C>T p.Ala28Val Missense 1/9 -
2-223339437-A-C SGPP2 c.370A>C p.Ile124Leu Missense 2/5 -
6-26184102-G-A HIST1H2BE c.79G>A p.Gly27Ser Missense 1/1 -
9-98638273-C-G ERCC6L2 c.1-15C>G - 5-UTRSNV 1/14 -
6-132909838-G-C TAAR5 c.988C>G p.Arg330Gly Missense 1/1 -
9-98638273-C-T ERCC6L2 c.1-15C>T - 5-UTRSNV 1/14 -
1-16895586-T-C NBPF1 c.2596A>G p.Met866Val Missense 23/28 -
19-7056571-G-T MBD3L3 c.389C>A p.Ala130Asp Missense 2/2 -
14-64519709-A-T SYNE2 c.9078A>T p.Glu3026Asp Missense 48/116 -
3-195506435-T-A MUC4 c.12016A>T p.Thr4006Ser Missense 2/25 -
16-84256128-C-T KCNG4 c.1255G>A p.Val419Met Missense 3/3 -
1-156646668-A-G NES c.389T>C p.Val130Ala Missense 1/4 -
14-23845076-G-A IL25 c.521G>A p.Arg174His Missense 2/2 -
17-40341909-G-T GHDC c.1405C>A p.Arg469Ser Missense 10/10 -
19-17881605-A-G FCHO1 c.494A>G p.Glu165Gly Missense 9/29 -
X-140993990-C-T MAGEC1 c.800C>T p.Ser267Phe Missense 4/4 -
1-248722659-C-T OR2T29 c.134G>A p.Gly45Glu Missense 1/1 -
17-40341909-G-A GHDC c.1405C>T p.Arg469Cys Missense 10/10 -
8-144885597-G-C SCRIB c.3559C>G p.Leu1187Val Missense 24/36 -
8-125463428-C-T TRMT12 c.260C>T p.Thr87Met Missense 1/1 -
20-2321163-C-T TGM3 c.2018C>T p.Ala673Val Missense 13/13 -
8-125463428-C-G TRMT12 c.260C>G p.Thr87Arg Missense 1/1 -
20-2321163-C-A TGM3 c.2018C>A p.Ala673Asp Missense 13/13 -
9-21228040-C-A IFNA17 c.133G>T p.Gly45* Nonsense 1/1 -
9-21228040-C-G IFNA17 c.133G>C p.Gly45Arg Missense 1/1 -
18-31326012-T-G ASXL3 c.6200T>G p.Leu2067Arg Missense 12/12 -
15-43819450-A-G MAP1A c.5779A>G p.Lys1927Glu Missense 4/6 -
5-110428085-C-G WDR36 c.99C>G p.Asp33Glu Missense 1/23 -
4-186318414-T-G ANKRD37 c.138T>G p.Phe46Leu Missense 2/5 -
7-28996904-T-C TRIL c.756A>G - synonymous_variant 3/3 -
21-46396659-G-T FAM207A c.634G>T p.Val212Leu Missense 6/6 -
19-52034506-C-T SIGLEC6 c.335G>A p.Arg112Gln Missense 2/8 -
7-128843396-G-A SMO c.503G>A p.Arg168His Missense 2/12 -
11-121444958-A-G SORL1 c.3346A>G p.Ile1116Val Missense 24/48 -
11-1269215-C-A MUC5B c.11105C>A p.Thr3702Lys Missense 31/49 -
21-46396659-G-C FAM207A c.634G>C p.Val212Leu Missense 6/6 -
8-7308386-T-C SPAG11B c.*15A>G - 3-UTRSNV 4/4 -
16-3254556-G-A OR1F1 c.310G>A p.Val104Ile Missense 3/3 -
19-40392631-G-A FCGBP c.7873C>T p.Pro2625Ser Missense 16/36 -
15-83502066-C-G WHAMM c.2208C>G p.His736Gln Missense 10/10 -
2-63220672-C-T EHBP1 c.2954C>T p.Thr985Ile Missense 19/25 -
12-72068117-G-A THAP2 c.206G>A p.Arg69Gln Missense 2/3 -
3-52563199-A-T NT5DC2 c.273T>A p.Ser91Arg Missense 2/14 -
18-9570592-A-G PPP4R1 c.1085T>C p.Leu362Pro Missense 11/20 -
19-22155918-T-C ZNF208 c.1918A>G p.Lys640Glu Missense 4/4 -
19-55105722-G-C LILRA1 c.13G>C p.Val5Leu Missense 2/10 -
19-55105722-G-A LILRA1 c.13G>A p.Val5Ile Missense 2/10 -
16-1859342-A-G HAGH c.869T>C p.Val290Ala Missense 9/9 -
7-100646199-T-C MUC12 c.12355T>C p.Phe4119Leu Missense 2/12 -
4-70080139-C-G UGT2B11 c.302G>C p.Arg101Pro Missense 1/6 -
16-67997920-T-C SLC12A4 c.116-458A>G - IntronicSNV - 1/23
9-110249816-G-C KLF4 c.859C>G p.His287Asp Missense 3/5 -
2-153475663-C-T FMNL2 c.1618C>T p.Pro540Ser Missense 14/26 -
3-53857917-T-G CHDH c.119A>C p.Glu40Ala Missense 3/9 -
9-136268952-G-A STKLD1 c.1603G>A p.Gly535Ser Missense 15/18 -
15-43282285-C-T UBR1 c.3791G>A p.Gly1264Glu Missense 34/47 -
10-111890151-C-G ADD3 c.1639C>G p.Pro547Ala Missense 13/14 -
11-55653617-A-C TRIM51 c.430A>C p.Met144Leu Missense 3/7 -
10-111890151-C-T ADD3 c.1639C>T p.Pro547Ser Missense 13/14 -
22-50617691-T-C PANX2 c.2019T>C p.Ser673Ser Synonymous 3/3 -
10-129914025-C-T MKI67 c.647G>A p.Gly216Glu Missense 7/15 -
6-132859770-C-T TAAR9 c.342C>T p.Ser114Ser Synonymous 1/1 -
2-160673519-G-A LY75 c.4178C>T p.Thr1393Ile Missense 30/35 -
2-160673519-G-C LY75-CD302 c.4178C>G p.Thr1393Ser Missense 30/39 -
7-55902230-T-C SEPT14 c.608A>G p.Asp203Gly Missense 6/10 -
9-115933980-C-A FKBP15 c.2539G>T p.Ala847Ser Missense 24/28 -
9-115933980-C-T FKBP15 c.2539G>A p.Ala847Thr Missense 24/28 -
7-148288020-G-T C7orf33 c.3G>T p.Met1Ile Missense 1/3 -
7-136935977-C-T PTN c.451G>A p.Ala151Thr Missense 4/5 -
17-39305820-C-A KRTAP4-5 c.200G>T p.Arg67Leu Missense 1/1 -
2-107040372-C-G RGPD3 c.4051G>C p.Glu1351Gln Missense 20/23 -
1-201754444-G-A NAV1 c.2811G>A p.Gln937Gln Synonymous 8/30 -
X-140994517-C-T MAGEC1 c.1327C>T p.Leu443Phe Missense 4/4 -
X-140994517-C-G MAGEC1 c.1327C>G p.Leu443Val Missense 4/4 -
6-135521495-G-A MYB c.1520G>A p.Gly507Glu Missense 12/15 -
1-2938924-T-G ACTRT2 c.674T>G p.Leu225Trp Missense 1/1 -
19-4954757-G-A UHRF1 c.2051G>A - missense_variant 16/18 -
2-201485959-C-T AOX1 c.1991C>T p.Ala664Val Missense 18/35 -
22-50724504-C-G PLXNB2 c.1901G>C p.Arg634Pro Missense 10/37 -
22-50724504-C-T PLXNB2 c.1901G>A p.Arg634His Missense 10/37 -
19-40406029-C-G FCGBP c.4817G>C p.Arg1606Pro Missense 10/36 -
22-50877170-C-G PPP6R2 c.2026C>G p.Pro676Ala Missense 18/23 -
22-50877170-C-T PPP6R2 c.2026C>T p.Pro676Ser Missense 18/23 -
22-50877170-C-A PPP6R2 c.2026C>A p.Pro676Thr Missense 18/23 -
5-176759170-C-T LMAN2 c.988G>A p.Ala330Thr Missense 8/8 -
19-58723818-A-G ZNF274 c.1268A>G - missense_variant 9/9 -
X-46918243-T-C JADE3 c.2236T>C p.Phe746Leu Missense 11/11 -
20-60878683-A-G ADRM1 c.59A>G p.Asn20Ser Missense 2/9 -
19-43433676-G-C PSG7 c.261C>G p.Asn87Lys Missense 2/5 -
2-241631717-T-C AQP12A c.350T>C p.Met117Thr Missense 2/4 -
11-123909650-C-T OR10G7 c.59G>A p.Gly20Glu Missense 1/1 -
19-50381425-A-G TBC1D17 c.47A>G p.Tyr16Cys Missense 2/17 -
17-37840860-G-A PGAP3 c.422C>T p.Ala141Val Missense 3/8 -
11-123909650-C-G OR10G7 c.59G>C p.Gly20Ala Missense 1/1 -
6-80717676-C-T TTK c.290C>T p.Ala97Val Missense 3/22 -
4-57797350-C-G REST c.2326C>G p.Pro776Ala Missense 4/4 -
4-57797350-C-T REST c.2326C>T p.Pro776Ser Missense 4/4 -
4-9783969-T-C DRD5 c.316T>C p.Tyr106His Missense 1/1 -
6-37614063-C-T MDGA1 c.2135G>A p.Arg712His Missense 11/17 -
5-140596087-C-T PCDHB13 c.2392C>T p.Gln798* Nonsense 1/1 -
11-67818269-G-A TCIRG1 c.2476G>A p.Ala826Thr Missense 20/20 -
20-57597971-G-C TUBB1 c.129G>C p.Gln43His Missense 2/4 -
1-41976217-G-C HIVEP3 c.7126C>G p.Pro2376Ala Missense 9/9 -
1-41976217-G-A HIVEP3 c.7126C>T p.Pro2376Ser Missense 9/9 -
1-156105704-G-A LMNA c.949G>A p.Glu317Lys Missense 6/12 -
1-156105704-G-T LMNA c.949G>T p.Glu317* Nonsense 6/12 -
16-56535333-G-A BBS2 c.1157C>T p.Thr386Met Missense 10/17 -
5-825286-G-T ZDHHC11 c.1016C>A p.Thr339Lys Missense 8/13 -
19-15905289-G-A OR10H5 c.431G>A p.Arg144Gln Missense 1/1 -
9-33385863-G-A AQP7 c.527C>T p.Ala176Val Missense 7/8 -
6-35745305-G-A CLPSL2 c.154G>A p.Gly52Ser Missense 2/3 -
3-183994447-C-T EEF1AKMT4-ECE2 c.481-233C>T - IntronicSNV - 2/18
3-183994447-C-G EEF1AKMT4-ECE2 c.481-233C>G - IntronicSNV - 2/18
3-49723750-A-T MST1 c.1012T>A p.Cys338Ser Missense 8/18 -
11-65715203-C-T TSGA10IP c.907C>T p.Arg303* Nonsense 3/8 -
6-137015311-G-A MAP3K5 c.1220C>T p.Thr407Met Missense 7/30 -
19-55107308-G-C LILRA1 c.866G>C p.Arg289Pro Missense 6/10 -
1-204378775-T-C PPP1R15B c.1765A>G p.Lys589Glu Missense 1/2 -
19-622207-C-T POLRMT c.1793G>A p.Arg598His Missense 9/21 -
19-622207-C-A POLRMT c.1793G>T p.Arg598Leu Missense 9/21 -
3-49689642-C-T BSN c.2653C>T p.Pro885Ser Missense 5/12 -
15-34647972-C-T NUTM1 c.1679C>T p.Pro560Leu Missense 8/8 -
5-173035291-G-A BOD1 c.*6C>T - 3_prime_UTR_variant 4/4 -
3-195511070-C-T MUC4 c.7381G>A p.Asp2461Asn Missense 2/25 -
3-195511070-C-G MUC4 c.7381G>C p.Asp2461His Missense 2/25 -
5-112769659-C-T MCC c.171-48750G>A - IntronicSNV - 1/18
5-150227966-C-T IRGM c.281C>T p.Thr94Ile Missense 2/2 -
5-150227966-C-A IRGM c.281C>A p.Thr94Lys Missense 2/2 -
19-49539560-T-G CGB1 c.10A>C p.Arg4Arg Synonymous 2/3 -
19-49539560-T-C CGB1 c.10A>G p.Arg4Gly Missense 2/3 -
X-135956342-C-G RBMX c.1135G>C p.Gly379Arg Missense 9/9 -
16-427699-C-T TMEM8A c.271G>A p.Ala91Thr Missense 2/13 -
16-427699-C-G TMEM8A c.271G>C p.Ala91Pro Missense 2/13 -
9-84606251-T-G SPATA31D1 c.866T>G p.Ile289Ser Missense 4/4 -
9-84606251-T-C SPATA31D1 c.866T>C p.Ile289Thr Missense 4/4 -
1-63999234-G-C EFCAB7 c.596G>C p.Gly199Ala Missense 5/14 -
19-17837425-C-G MAP1S c.1232C>G p.Ser411Cys Missense 5/7 -
16-72830539-C-G ZFHX3 c.6042G>C p.Gln2014His Missense 9/10 -
19-43530473-G-A PSG11 c.52C>T p.Leu18Phe Missense 1/6 -
1-40230336-C-G BMP8B c.827G>C p.Ser276Thr Missense 4/7 -
1-40230336-C-A BMP8B c.827G>T p.Ser276Ile Missense 4/7 -
16-72830539-C-A ZFHX3 c.6042G>T p.Gln2014His Missense 9/10 -
9-8485885-T-C PTPRD c.1814-561A>G - IntronicSNV - 11/29
2-31215798-C-A GALNT14 c.205G>T p.Val69Phe Missense 2/15 -
17-39579059-G-A KRT37 c.703C>T p.Gln235* Nonsense 3/7 -
3-195507086-C-A MUC4 c.11365G>T p.Asp3789Tyr Missense 2/25 -
17-39579059-G-T KRT37 c.703C>A p.Gln235Lys Missense 3/7 -
17-39579059-G-C KRT37 c.703C>G p.Gln235Glu Missense 3/7 -
1-16386495-C-T FAM131C c.320G>A p.Arg107Gln Missense 5/7 -
10-124377661-G-A DMBT1 c.2749G>A p.Val917Met Missense 25/40 -
1-16386495-C-G FAM131C c.320G>C p.Arg107Pro Missense 5/7 -
12-53455042-A-G TNS2 c.3352A>G p.Thr1118Ala Missense 20/29 -
7-151882672-C-T KMT2C c.5053G>A p.Ala1685Thr Missense 34/59 -
7-151882672-C-A KMT2C c.5053G>T p.Ala1685Ser Missense 34/59 -
5-96341912-C-T LNPEP c.1921C>T p.Pro641Ser Missense 10/18 -
2-95691596-C-T MAL c.59C>T p.Thr20Ile Missense 1/4 -
12-54422504-C-A HOXC6 c.199C>A p.Arg67Arg Synonymous 1/2 -
12-54422504-C-G HOXC6 c.199C>G p.Arg67Gly Missense 1/2 -
12-11091206-G-A TAS2R14 c.601C>T p.Leu201Phe Missense 1/1 -
9-33385690-G-C AQP7 c.700C>G p.Arg234Gly Missense 7/8 -
9-33385690-G-T AQP7 c.700C>A p.Arg234Ser Missense 7/8 -
17-14140080-C-G CDRT15 c.71G>C p.Arg24Pro Missense 1/3 -
17-14140080-C-A CDRT15 c.71G>T p.Arg24Leu Missense 1/3 -
17-39553547-G-A KRT31 c.245C>T p.Ala82Val Missense 1/7 -
12-54422504-C-T HOXC6 c.199C>T p.Arg67Trp Missense 1/2 -
6-132860260-G-A TAAR9 c.832G>A p.Ala278Thr Missense 1/1 -
6-42074872-A-C C6orf132 c.778T>G p.Ser260Ala Missense 4/5 -
2-74783865-A-G DOK1 c.1070A>G p.Lys357Arg Missense 5/5 -
2-74783865-A-T DOK1 c.1070A>T p.Lys357Ile Missense 5/5 -
21-45391272-C-T AGPAT3 c.668C>T p.Ala223Val Missense 7/10 -
17-14140080-C-T CDRT15 c.71G>A p.Arg24Gln Missense 1/3 -
6-169621600-G-A THBS2 c.3296C>T p.Pro1099Leu Missense 21/23 -
15-41476551-C-T EXD1 c.1123G>A p.Gly375Arg Missense 10/10 -
10-49658943-G-T ARHGAP22 c.1229C>A p.Thr410Lys Missense 9/10 -
6-169621600-G-T THBS2 c.3296C>A p.Pro1099His Missense 21/23 -
17-21319868-G-A KCNJ12 c.1214G>A p.Ser405Asn Missense 3/3 -
17-21319868-G-T KCNJ12 c.1214G>T p.Ser405Ile Missense 3/3 -
10-50724316-C-T ERCC6 c.1397+7763G>A - IntronicSNV - 5/20
15-79058951-T-C ADAMTS7 c.3302A>G p.His1101Arg Missense 19/24 -
3-140167490-T-A CLSTN2 c.917T>A p.Ile306Asn Missense 6/17 -
19-58864480-G-A A1BG c.154C>T p.His52Tyr Missense 3/8 -
3-140167490-T-C CLSTN2 c.917T>C p.Ile306Thr Missense 6/17 -
10-105160184-A-G PDCD11 c.133A>G p.Lys45Glu Missense 3/36 -
11-51516144-A-G OR4C46 c.863A>G p.Lys288Arg Missense 1/1 -
11-8009015-C-T EIF3F c.116C>T p.Pro39Leu Missense 1/8 -
6-137245567-C-T SLC35D3 c.984C>T p.Asp328Asp Synonymous 2/2 -
11-58714574-A-G GLYATL1 c.171+33A>G - IntronicSNV - 3/6
17-2238152-T-C TSR1 c.595A>G p.Lys199Glu Missense 5/15 -
4-68810346-T-C TMPRSS11A c.143A>G p.Lys48Arg Missense 3/10 -
7-133906576-A-G LRGUK c.1889A>G p.Tyr630Cys Missense 16/20 -
1-1271853-G-A DVL1 c.1682C>T p.Pro561Leu Missense 15/15 -
16-4625470-C-G C16orf96 c.989C>G p.Pro330Arg Missense 5/16 -
2-238289980-G-C COL6A3 c.1475C>G p.Thr492Ser Missense 5/44 -
14-105398392-G-A PLD4 c.1102G>A p.Gly368Ser Missense 9/11 -
7-151791365-C-T GALNT11 c.53C>T p.Ala18Val Missense 2/12 -
15-43348610-T-C UBR1 c.1213A>G p.Ser405Gly Missense 11/47 -
13-24465717-A-G C1QTNF9B c.713T>C p.Val238Ala Missense 3/3 -
13-24465717-A-C C1QTNF9B c.713T>G p.Val238Gly Missense 3/3 -
16-70694056-C-T IL34 c.695C>T p.Pro232Leu Missense 7/7 -
13-78477314-C-T EDNRB c.778G>A p.Val260Ile Missense 4/8 -
11-77413429-T-C RSF1 c.845A>G p.Asp282Gly Missense 6/16 -
11-123909653-G-T OR10G7 c.56C>A p.Pro19Gln Missense 1/1 -
9-130422312-G-A STXBP1 c.250G>A p.Val84Ile Missense 5/20 -
5-109756330-T-C TMEM232 c.1925A>G p.His642Arg Missense 14/14 -
11-65629482-G-A MUS81 c.416G>A p.Arg139Gln Missense 4/16 -
3-195510878-C-A MUC4 c.7573G>T p.Asp2525Tyr Missense 2/25 -
3-195510878-C-G MUC4 c.7573G>C p.Asp2525His Missense 2/25 -
19-54755922-C-T LILRB5 c.1624G>A p.Ala542Thr Missense 12/13 -
4-78079695-T-G CCNG2 c.10T>G p.Leu4Val Missense 2/8 -
7-100677279-G-C MUC17 c.2582G>C p.Ser861Thr Missense 3/13 -
5-150436503-G-C TNIP1 c.451C>G p.Pro151Ala Missense 6/18 -
5-150436503-G-A TNIP1 c.451C>T p.Pro151Ser Missense 6/18 -
16-28607196-G-C SULT1A2 c.56C>G p.Pro19Arg Missense 2/8 -
16-28607196-G-A SULT1A2 c.56C>T p.Pro19Leu Missense 2/8 -
15-75641682-T-C NEIL1 c.434+2T>C - IntronicSNV - 2/9
7-100639095-A-C MUC12 c.5251A>C p.Thr1751Pro Missense 2/12 -
7-100639095-A-G MUC12 c.5251A>G p.Thr1751Ala Missense 2/12 -
7-100639095-A-T MUC12 c.5251A>T p.Thr1751Ser Missense 2/12 -
13-78477314-C-A EDNRB c.778G>T p.Val260Phe Missense 4/8 -
6-111983038-G-C FYN c.1518C>G p.Asp506Glu Missense 14/14 -
12-53170960-G-C KRT76 c.116C>G p.Ala39Gly Missense 1/9 -
14-105180785-C-T INF2 c.3286C>T p.Pro1096Ser Missense 21/23 -
12-53298606-A-G KRT8 c.160T>C p.Tyr54His Missense 1/8 -
12-53298606-A-T KRT8 c.160T>A p.Tyr54Asn Missense 1/8 -
14-105612169-C-T JAG2 c.2851G>A p.Ala951Thr Missense 23/26 -
5-40998779-T-C MROH2B c.4586A>G p.Asp1529Gly Missense 41/42 -
19-55107308-G-A LILRA1 c.866G>A p.Arg289His Missense 6/10 -
13-19753484-C-G TUBA3C c.223G>C p.Val75Leu Missense 2/5 -
7-100639066-C-T MUC12 c.5222C>T p.Ser1741Leu Missense 2/12 -
21-11049596-C-A BAGE2 c.305G>T p.Cys102Phe Missense 4/10 -
21-11049596-C-T BAGE2 c.305G>A p.Cys102Tyr Missense 4/10 -
10-124345796-C-G DMBT1 c.1420+1929C>G - IntronicSNV - 14/39
19-41384702-T-C CYP2A7 c.641A>G p.Gln214Arg Missense 4/8 -
10-124345796-C-T DMBT1 c.1420+1929C>T - IntronicSNV - 14/39
10-124345796-C-A DMBT1 c.1420+1929C>A - IntronicSNV - 14/39
11-82444021-T-G FAM181B c.751A>C p.Ser251Arg Missense 1/1 -
19-35231638-A-G ZNF181 c.352A>G p.Lys118Glu Missense 4/4 -
5-96245365-C-T ERAP2 c.2251C>T p.Arg751Cys Missense 15/19 -
22-23476312-C-T RSPH14 c.322G>A p.Asp108Asn Missense 4/7 -
12-110383141-G-A GIT2 c.1655C>T p.Ala552Val Missense 16/20 -
19-7056571-G-A MBD3L3 c.389C>T p.Ala130Val Missense 2/2 -
1-158298714-C-T CD1B c.977G>A p.Arg326His Missense 5/6 -
17-74300497-G-A QRICH2 c.206C>T p.Ala69Val Missense 3/19 -
20-1895889-G-C SIRPA c.224G>C p.Gly75Ala Missense 3/9 -
16-12009279-A-T GSPT1 c.299T>A p.Val100Asp Missense 1/15 -
16-31155064-C-T PRSS36 c.815G>A p.Arg272His Missense 7/15 -
14-54997751-C-T CGRRF1 c.553C>T p.Arg185Trp Missense 4/6 -
8-27358495-C-T EPHX2 c.154C>T p.Arg52Trp Missense 2/19 -
2-189931144-A-G COL5A2 c.1535T>C p.Val512Ala Missense 23/54 -
9-35841510-C-T TMEM8B c.1-926C>T - IntronicSNV - 1/10
16-1537458-G-T PTX4 c.640C>A p.His214Asn Missense 2/3 -
5-96245365-C-G ERAP2 c.2251C>G p.Arg751Gly Missense 15/19 -
2-179482763-C-T TTN c.39611G>A p.Arg13204Gln Missense 202/312 -
9-43627428-G-A SPATA31A6 c.1259C>T p.Pro420Leu Missense 4/4 -
17-48601096-C-T MYCBPAP c.1586C>T - missense_variant 12/19 -
19-17837425-C-T MAP1S c.1232C>T p.Ser411Phe Missense 5/7 -
8-27358495-C-A EPHX2 c.154C>A p.Arg52Arg Synonymous 2/19 -
22-17288789-G-T XKR3 c.175C>A p.Arg59Arg Synonymous 2/4 -
14-23519131-C-T CDH24 c.1499G>A p.Arg500His Missense 10/14 -
11-32781773-T-C CCDC73 c.17A>G p.Asn6Ser Missense 2/18 -
3-10115033-G-T FANCD2 c.2702G>T p.Gly901Val Missense 28/44 -
15-83481859-T-A WHAMM c.614T>A p.Ile205Asn Missense 2/10 -
1-248085124-G-A OR2T8 c.805G>A p.Asp269Asn Missense 1/1 -
21-43531264-C-G UMODL1 c.1899+33C>G - IntronicSNV - 11/22
20-62577298-C-T UCKL1 c.442G>A p.Ala148Thr Missense 4/15 -
14-105412260-G-C AHNAK2 c.9528C>G p.Asp3176Glu Missense 7/7 -
2-215813807-T-A ABCA12 c.6919A>T p.Ile2307Phe Missense 46/53 -
2-215813807-T-C ABCA12 c.6919A>G p.Ile2307Val Missense 46/53 -
20-60897104-C-T LAMA5 c.6467G>A p.Gly2156Glu Missense 48/80 -
7-100677455-G-A MUC17 c.2758G>A p.Gly920Arg Missense 3/13 -
16-24902299-C-G SLC5A11 c.774C>G p.Phe258Leu Missense 9/16 -
14-23859610-C-T MYH6 c.3388G>A p.Ala1130Thr Missense 26/39 -
12-11461549-G-T PRB4 c.368C>A p.Pro123Gln Missense 3/4 -
11-60184277-A-C MS4A14 c.1785A>C p.Gln595His Missense 4/4 -
1-12921600-C-G PRAMEF2 c.1391C>G p.Pro464Arg Missense 4/4 -
1-204159787-G-A KISS1 c.242C>T p.Pro81Leu Missense 3/3 -
1-204159787-G-C KISS1 c.242C>G p.Pro81Arg Missense 3/3 -
1-12921600-C-T PRAMEF2 c.1391C>T p.Pro464Leu Missense 4/4 -
20-3171872-G-A DDRGK1 c.742C>T p.Arg248Cys Missense 8/9 -
10-127462934-G-T MMP21 c.163C>A p.Arg55Arg Synonymous 2/7 -
1-38040285-C-T GNL2 c.1283G>A p.Arg428Gln Missense 11/16 -
17-21319388-C-T KCNJ12 c.734C>T p.Pro245Leu Missense 3/3 -
19-1000785-C-T GRIN3B c.349C>T p.His117Tyr Missense 1/9 -
7-17378917-A-G AHR c.1468A>G p.Met490Val Missense 10/11 -
13-25021263-T-A PARP4 c.3176A>T p.Gln1059Leu Missense 26/34 -
11-44069719-G-A ACCSL c.133G>A p.Val45Met Missense 1/14 -
1-161736209-T-C ATF6 c.59T>C p.Phe20Ser Missense 1/16 -
8-121530092-C-T MTBP c.2248C>T p.Leu750Phe Missense 19/22 -
8-139164185-T-G FAM135B c.2533A>C p.Ile845Leu Missense 13/20 -
18-44181227-C-T LOXHD1 c.1087G>A p.Val363Ile Missense 8/40 -
1-17281235-G-A CROCC c.3328G>A p.Val1110Met Missense 23/37 -
7-28995803-G-A TRIL c.1860C>T p.Phe620Phe Synonymous 3/3 -
8-68421768-G-A CPA6 c.518C>T p.Ser173Phe Missense 5/11 -
9-139841132-G-T C8G c.586G>T p.Val196Phe Missense 6/7 -
9-139841132-G-A C8G c.586G>A p.Val196Ile Missense 6/7 -
12-108956417-T-C ISCU c.-153T>C - 5_prime_UTR_variant 1/6 -
1-16384999-G-C FAM131C c.776C>G p.Pro259Arg Missense 7/7 -
X-91518138-G-A PCDH11X c.3114+61684G>A - IntronicSNV - 3/5
12-72092865-T-G TMEM19 c.823T>G p.Leu275Val Missense 5/6 -
11-89531543-C-T TRIM49 c.1114G>A p.Asp372Asn Missense 8/8 -
8-144789973-C-A CCDC166 c.307G>T p.Ala103Ser Missense 1/2 -
8-144789973-C-T CCDC166 c.307G>A p.Ala103Thr Missense 1/2 -
9-138456155-C-T PAEP c.376C>T p.Gln126* Nonsense 4/7 -
9-138456155-C-A PAEP c.376C>A p.Gln126Lys Missense 4/7 -
2-209302328-C-A PTH2R c.245C>A p.Ser82* Nonsense 3/13 -
12-120306959-C-T CIT c.143G>A p.Arg48Gln Missense 3/47 -
1-12885195-C-T PRAMEF11 c.916G>A p.Glu306Lys Missense 5/5 -
3-48626832-C-T COL7A1 c.2242G>A p.Glu748Lys Missense 17/118 -
3-195507578-C-A MUC4 c.10873G>T p.Ala3625Ser Missense 2/25 -
1-152284558-C-T FLG c.2804G>A p.Gly935Glu Missense 3/3 -
11-1017552-T-C MUC6 c.5249A>G p.His1750Arg Missense 31/33 -
10-5138747-A-G AKR1C3 c.230A>G p.Glu77Gly Missense 2/9 -
1-152284558-C-G FLG c.2804G>C p.Gly935Ala Missense 3/3 -
5-149360630-C-T SLC26A2 c.1474C>T p.Arg492Trp Missense 3/3 -
16-5077157-C-G NAGPA c.1319G>C p.Gly440Ala Missense 9/10 -
19-41354533-A-T CYP2A6 c.479T>A p.Leu160His Missense 3/9 -
11-62298068-A-G AHNAK c.342+4407T>C - IntronicSNV - 4/5
12-53039173-G-C KRT2 c.1550C>G p.Ala517Gly Missense 9/9 -
12-7252506-C-T C1RL c.607G>A p.Ala203Thr Missense 4/6 -
7-2649765-C-T IQCE c.2057C>T p.Pro686Leu Missense 22/22 -
11-123894234-A-G OR10G9 c.515A>G p.Gln172Arg Missense 1/1 -
17-4806052-C-G CHRNE c.53G>C p.Gly18Ala Missense 2/12 -
17-4806052-C-A CHRNE c.53G>T p.Gly18Val Missense 2/12 -
19-53056953-G-A ZNF808 c.784G>A p.Asp262Asn Missense 5/5 -
X-135956467-C-T RBMX c.1010G>A p.Ser337Asn Missense 9/9 -
2-239162038-A-G PER2 c.2626T>C p.Phe876Leu Missense 19/23 -
3-105264176-G-A ALCAM c.1101G>A p.Met367Ile Missense 9/16 -
7-100683036-T-C MUC17 c.8339T>C p.Ile2780Thr Missense 3/13 -
7-100678610-A-T MUC17 c.3913A>T p.Thr1305Ser Missense 3/13 -
1-24402675-T-A MYOM3 c.2675A>T p.Asp892Val Missense 21/37 -
8-144885597-G-A SCRIB c.3559C>T p.Leu1187Leu Synonymous 24/36 -
10-28023688-C-T MKX c.535G>A p.Glu179Lys Missense 5/7 -
16-1258033-G-T CACNA1H c.3175G>T p.Ala1059Ser Missense 16/34 -
17-73261868-G-A MRPS7 c.593G>A p.Arg198Gln Missense 5/5 -
1-24402675-T-G MYOM3 c.2675A>C p.Asp892Ala Missense 21/37 -
19-17337557-G-T OCEL1 c.125G>T p.Arg42Leu Missense 2/6 -
19-56001665-C-T SSC5D c.476C>T p.Ala159Val Missense 5/14 -
3-12192749-G-C SYN2 c.321G>C p.Trp107Cys Missense 2/14 -
3-123440977-T-G MYLK c.1802A>C p.His601Pro Missense 13/34 -
19-14043864-C-T PODNL1 c.1193G>A p.Arg398His Missense 8/8 -
12-52682218-C-G KRT81 c.662G>C p.Arg221Pro Missense 4/9 -
19-40541039-C-A ZNF780B c.1727G>T p.Arg576Leu Missense 5/5 -
19-40541039-C-T ZNF780B c.1727G>A p.Arg576Gln Missense 5/5 -
1-12856111-C-T PRAMEF1 c.1391C>T p.Pro464Leu Missense 4/4 -
2-167108385-C-G SCN9A c.3329G>C p.Arg1110Pro Missense 18/27 -
12-8612294-G-C CLEC6A c.223G>C p.Ala75Pro Missense 3/6 -
15-43724532-T-C TP53BP1 c.3535A>G p.Ile1179Val Missense 17/28 -
19-40519905-G-A ZNF546 c.728G>A p.Arg243Lys Missense 7/7 -
12-110960196-G-A RAD9B c.1105G>A p.Gly369Arg Missense 10/12 -
1-12856111-C-G PRAMEF1 c.1391C>G p.Pro464Arg Missense 4/4 -
16-3708192-C-T TRAP1 c.2053G>A p.Asp685Asn Missense 18/18 -
19-1619350-C-T TCF3 c.1291G>A p.Gly431Ser Missense 15/19 -
22-30197031-T-A ASCC2 c.1637A>T p.Asp546Val Missense 15/20 -
22-30197031-T-C ASCC2 c.1637A>G p.Asp546Gly Missense 15/20 -
14-73729498-G-A PAPLN c.2605G>A p.Gly869Arg Missense 18/26 -
15-29421054-C-T FAM189A1 c.941G>A p.Gly314Asp Missense 8/11 -
7-6189373-C-T USP42 c.1546C>T p.His516Tyr Missense 13/18 -
3-42567381-C-A VIPR1 c.295C>A p.Arg99Ser Missense 4/13 -
10-102239656-T-C WNT8B c.128T>C p.Val43Ala Missense 3/6 -
12-53238347-G-C KRT78 c.917C>G p.Thr306Ser Missense 5/9 -
12-53238347-G-A KRT78 c.917C>T p.Thr306Ile Missense 5/9 -
7-100678481-A-T MUC17 c.3784A>T p.Thr1262Ser Missense 3/13 -
20-34092076-G-A CEP250 c.5879G>A p.Arg1960Gln Missense 30/35 -
1-89449298-C-G KYAT3 c.99+4637G>C - IntronicSNV - 2/13
7-76240888-A-G POMZP3 c.458T>C p.Leu153Pro Missense 6/7 -
7-76240888-A-T POMZP3 c.458T>A p.Leu153Gln Missense 6/7 -
1-20960385-A-T PINK1 c.344A>T p.Gln115Leu Missense 1/8 -
1-248084464-T-A OR2T8 c.145T>A p.Trp49Arg Missense 1/1 -
19-501701-G-A MADCAM1 c.700G>A p.Asp234Asn Missense 4/5 -
22-50682234-C-T TUBGCP6 c.655G>A p.Val219Met Missense 1/25 -
1-42045770-G-A HIVEP3 c.4699C>T p.Pro1567Ser Missense 4/9 -
3-128695828-G-A KIAA1257 c.890C>T p.Thr297Met Missense 6/8 -
22-50682234-C-A TUBGCP6 c.655G>T p.Val219Leu Missense 1/25 -
7-100677704-C-G MUC17 c.3007C>G p.Leu1003Val Missense 3/13 -
7-100677704-C-T MUC17 c.3007C>T p.Leu1003Phe Missense 3/13 -
1-233802497-G-T KCNK1 c.512G>T p.Arg171Leu Missense 2/3 -
19-43530473-G-C PSG11 c.52C>G p.Leu18Val Missense 1/6 -
19-59022243-C-T SLC27A5 c.743G>A p.Arg248His Missense 2/10 -
X-65253352-C-T VSIG4 c.376G>A p.Val126Met Missense 2/8 -
19-45322904-C-G BCAM c.1684C>G p.Leu562Val Missense 13/15 -
7-150389594-G-T GIMAP2 c.220G>T p.Val74Phe Missense 3/3 -
19-51986547-A-G CEACAM18 c.950A>G p.His317Arg Missense 4/6 -
9-2039793-A-C SMARCA2 c.683A>C p.Gln228Pro Missense 4/34 -
7-151478406-C-T PRKAG2 c.298G>A p.Gly100Ser Missense 3/16 -
12-52681925-A-T KRT81 c.743T>A p.Leu248His Missense 5/9 -
14-45665661-A-C FANCM c.5627A>C p.Asn1876Thr Missense 21/23 -
1-75037007-C-G ERICH3 c.4387G>C p.Asp1463His Missense 14/15 -
5-109963482-C-T TMEM232 c.601G>A p.Ala201Thr Missense 6/14 -
17-34893655-C-G PIGW c.705C>G p.His235Gln Missense 2/2 -
11-26718732-C-A SLC5A12 c.1019G>T p.Cys340Phe Missense 8/15 -
3-195512726-C-T MUC4 c.5725G>A p.Asp1909Asn Missense 2/25 -
14-25076906-C-T GZMH c.251G>A p.Arg84Gln Missense 3/5 -
14-25076906-C-G GZMH c.251G>C p.Arg84Pro Missense 3/5 -
14-25076906-C-A GZMH c.251G>T p.Arg84Leu Missense 3/5 -
7-6844574-C-T CCZ1B c.1101G>A p.Met367Ile Missense 12/15 -
11-44331309-G-A ALX4 c.304C>T p.Pro102Ser Missense 1/4 -
3-179408054-C-T USP13 c.320C>T p.Ala107Val Missense 3/21 -
X-153420176-A-C OPN1LW c.706A>C p.Met236Leu Missense 4/6 -
X-153420176-A-T OPN1LW c.706A>T p.Met236Leu Missense 4/6 -
2-69093439-G-C BMP10 c.599C>G p.Thr200Ser Missense 2/2 -
22-32630990-C-T SLC5A4 c.755G>A p.Ser252Asn Missense 8/15 -
17-34893655-C-T PIGW c.705C>T p.His235His Synonymous 2/2 -
5-23527565-A-C PRDM9 c.2368A>C p.Asn790His Missense 11/11 -
4-126373018-C-T FAT4 c.10847C>T p.Thr3616Met Missense 9/17 -
11-51516191-G-T OR4C46 c.910G>T p.Asp304Tyr Missense 1/1 -
3-195508046-C-G MUC4 c.10405G>C p.Asp3469His Missense 2/25 -
3-195508046-C-T MUC4 c.10405G>A p.Asp3469Asn Missense 2/25 -
5-140347703-C-T PCDHAC1 c.2434-10831C>T - IntronicSNV - 1/3
12-52681925-A-C KRT81 c.743T>G p.Leu248Arg Missense 5/9 -
7-6449794-A-G DAGLB c.1787T>C p.Ile596Thr Missense 14/15 -
8-144810322-G-A FAM83H c.1309C>T p.His437Tyr Missense 5/5 -
14-105415748-G-A AHNAK2 c.6040C>T p.Pro2014Ser Missense 7/7 -
12-11244438-C-T TAS2R43 c.391G>A p.Val131Met Missense 1/1 -
4-190876204-G-A FRG1 c.330G>A p.Lys110Lys Synonymous 5/9 -
12-38714242-G-A ALG10B c.649G>A p.Glu217Lys Missense 3/3 -
4-190876204-G-T FRG1 c.330G>T p.Lys110Asn Missense 5/9 -
3-98217178-T-A OR5K2 c.654T>A p.Tyr218* Nonsense 1/1 -
7-34125551-A-G BMPER c.1592A>G p.Asn531Ser Missense 14/16 -
19-9002504-T-C MUC16 c.40312A>G p.Asn13438Asp Missense 51/84 -
7-34125551-A-T BMPER c.1592A>T p.Asn531Ile Missense 14/16 -
1-12854479-C-G PRAMEF1 c.703C>G p.Arg235Gly Missense 3/4 -
19-45315445-G-A BCAM c.230G>A p.Arg77His Missense 3/15 -
19-45315445-G-C BCAM c.230G>C p.Arg77Pro Missense 3/15 -
1-232564162-T-C SIPA1L2 c.4405A>G p.Arg1469Gly Missense 15/21 -
8-144809721-G-A FAM83H c.1910C>T p.Pro637Leu Missense 5/5 -
19-15905529-C-A OR10H5 c.671C>A p.Ala224Asp Missense 1/1 -
3-137717744-G-A CLDN18 c.34G>A p.Val12Met Missense 1/5 -
11-65385456-C-G PCNX3 c.623C>G p.Ser208Cys Missense 6/35 -
11-65385456-C-T PCNX3 c.623C>T p.Ser208Phe Missense 6/35 -
1-16895586-T-G NBPF1 c.2596A>C p.Met866Leu Missense 23/28 -
14-75330306-A-G PROX2 c.232T>C p.Ser78Pro Missense 1/3 -
19-51918135-G-A SIGLEC10 c.1558C>T p.Arg520Cys Missense 8/11 -
8-139628282-T-C COL22A1 c.3886A>G p.Met1296Val Missense 55/65 -
21-46020721-G-A TSPEAR c.83-32832C>T - IntronicSNV - 1/11
21-46020721-G-C TSPEAR c.83-32832C>G - IntronicSNV - 1/11
11-1267960-A-G MUC5B c.9850A>G p.Thr3284Ala Missense 31/49 -
11-1267960-A-T MUC5B c.9850A>T p.Thr3284Ser Missense 31/49 -
19-57088558-A-G ZNF470 c.761A>G p.Lys254Arg Missense 6/6 -
10-50824106-C-A CHAT c.287-442C>A - IntronicSNV - 1/14
1-248224746-G-A OR2L3 c.763G>A p.Val255Ile Missense 1/1 -
1-248224746-G-T OR2L3 c.763G>T p.Val255Phe Missense 1/1 -
6-33690691-C-T IP6K3 c.1039G>A p.Glu347Lys Missense 6/6 -
21-47552389-G-A COL6A2 c.2983G>A p.Ala995Thr Missense 28/28 -
21-47552389-G-C COL6A2 c.2983G>C p.Ala995Pro Missense 28/28 -
5-140503237-A-G PCDHB4 c.1657A>G p.Thr553Ala Missense 1/1 -
X-3248104-C-T MXRA5 c.664G>A p.Asp222Asn Missense 4/7 -
18-13826417-G-A MC5R c.653G>A p.Arg218Gln Missense 2/2 -
16-30566747-G-A ZNF764 c.995C>T p.Ala332Val Missense 3/3 -
19-51918135-G-T SIGLEC10 c.1558C>A p.Arg520Ser Missense 8/11 -
7-30649252-G-A GARS c.787G>A p.Val263Ile Missense 7/17 -
11-556531-C-T LMNTD2 c.1034G>A p.Cys345Tyr Missense 9/14 -
16-28603393-T-C SULT1A2 c.844A>G p.Lys282Glu Missense 8/8 -
10-50824106-C-T CHAT c.287-442C>T - IntronicSNV - 1/14
5-13902177-A-C DNAH5 c.1715T>G p.Leu572Trp Missense 13/79 -
4-88537232-A-G DSPP c.3418A>G p.Asn1140Asp Missense 5/5 -
1-12907284-T-C HNRNPCL1 c.859A>G p.Thr287Ala Missense 2/2 -
10-70992634-C-G HKDC1 c.341C>G p.Thr114Arg Missense 3/18 -
X-49957346-G-A AKAP4 c.2018C>T p.Ala673Val Missense 5/6 -
8-11996086-G-A USP17L2 c.184C>T p.Leu62Phe Missense 1/1 -
9-21206605-C-G IFNA10 c.492G>C p.Trp164Cys Missense 1/1 -
17-6703384-C-T TEKT1 c.1219G>A p.Val407Ile Missense 8/8 -
11-1016795-C-G MUC6 c.6006G>C p.Gln2002His Missense 31/33 -
11-1016795-C-T MUC6 c.6006G>A p.Gln2002Gln Synonymous 31/33 -
8-110447512-G-T PKHD1L1 c.3434G>T p.Gly1145Val Missense 29/78 -
8-110447512-G-A PKHD1L1 c.3434G>A p.Gly1145Glu Missense 29/78 -
8-110447512-G-C PKHD1L1 c.3434G>C p.Gly1145Ala Missense 29/78 -
7-29132279-A-G CPVL c.502T>C p.Tyr168His Missense 6/13 -
5-140554484-G-T PCDHB7 c.2068G>T p.Val690Leu Missense 1/1 -
11-123814145-G-T OR6T1 c.401C>A p.Thr134Asn Missense 1/1 -
14-45665661-A-G FANCM c.5627A>G p.Asn1876Ser Missense 21/23 -
1-45276242-C-T BTBD19 c.317C>T p.Thr106Ile Missense 3/8 -
7-1097555-G-A C7orf50 c.130-47776C>T - IntronicSNV - 2/4
11-308314-T-G IFITM2 c.122T>G p.Met41Arg Missense 1/2 -
1-12941742-G-A PRAMEF4 c.808C>T p.Arg270Cys Missense 3/4 -
2-241631839-G-A AQP12A c.472G>A p.Ala158Thr Missense 2/4 -
19-13869786-G-T CCDC130 c.362G>T p.Arg121Leu Missense 7/10 -
19-43865692-G-A CD177 c.1042G>A p.Ala348Thr Missense 8/9 -
8-108334162-G-A ANGPT1 c.770C>T p.Thr257Ile Missense 4/9 -
20-36641366-C-T TTI1 c.853G>A p.Asp285Asn Missense 3/9 -
4-88537063-A-C DSPP c.3249A>C p.Glu1083Asp Missense 5/5 -
1-12726036-C-G AADACL4 c.514C>G p.His172Asp Missense 4/4 -
3-8675447-C-G SSUH2 c.178G>C p.Ala60Pro Missense 4/12 -
21-45987884-G-A TSPEAR c.88C>T p.Arg30Cys Missense 2/12 -
X-65418789-G-A HEPH c.1945G>A p.Ala649Thr Missense 11/21 -
9-133901752-C-T LAMC3 c.454C>T p.Arg152Cys Missense 2/28 -
19-35449486-T-C ZNF792 c.1273A>G p.Asn425Asp Missense 4/4 -
19-35449486-T-G ZNF792 c.1273A>C p.Asn425His Missense 4/4 -
9-131020436-C-G GOLGA2 c.2250G>C p.Glu750Asp Missense 22/26 -
5-81608561-C-G ATP6AP1L c.263C>G p.Ser88Cys Missense 9/10 -
4-88766636-A-G MEPE c.616A>G p.Ser206Gly Missense 4/4 -
4-88766636-A-C MEPE c.616A>C p.Ser206Arg Missense 4/4 -
5-81608561-C-T ATP6AP1L c.263C>T p.Ser88Phe Missense 9/10 -
3-8675447-C-T SSUH2 c.178G>A p.Ala60Thr Missense 4/12 -
18-712568-G-A ENOSF1 c.20C>T p.Ser7Phe Missense 1/16 -
7-34917768-G-A NPSR1 c.1106G>A p.Gly369Asp Missense 9/9 -
1-7998823-C-T TNFRSF9 c.166G>A p.Ala56Thr Missense 3/8 -
11-55904828-A-G OR8J3 c.367T>C p.Tyr123His Missense 1/1 -
8-139164185-T-C FAM135B c.2533A>G p.Ile845Val Missense 13/20 -
14-105407327-G-A AHNAK2 c.14461C>T p.Pro4821Ser Missense 7/7 -
8-108334162-G-C ANGPT1 c.770C>G p.Thr257Arg Missense 4/9 -
11-124747467-C-T ROBO3 c.2899C>T p.Pro967Ser Missense 20/28 -
7-100684550-A-G MUC17 c.9853A>G p.Ser3285Gly Missense 3/13 -
7-100684550-A-C MUC17 c.9853A>C p.Ser3285Arg Missense 3/13 -
7-100684550-A-T MUC17 c.9853A>T p.Ser3285Cys Missense 3/13 -
1-6181605-C-A CHD5 c.4728G>T p.Met1576Ile Missense 32/42 -
19-15996828-G-C CYP4F2 c.1021C>G p.Leu341Val Missense 9/13 -
12-52862928-C-G KRT6C c.1613G>C p.Gly538Ala Missense 9/9 -
14-105408827-A-G AHNAK2 c.12961T>C p.Leu4321Leu Synonymous 7/7 -
4-42551048-T-C ATP8A1 c.1634A>G p.Asn545Ser Missense 19/37 -
1-16901710-C-T NBPF1 c.2134G>A p.Asp712Asn Missense 20/28 -
3-194061810-C-A CPN2 c.1622G>T p.Arg541Leu Missense 2/2 -
3-194061810-C-T CPN2 c.1622G>A p.Arg541Gln Missense 2/2 -
19-55993260-A-C ZNF628 c.700A>C p.Thr234Pro Missense 3/3 -
19-55993260-A-G ZNF628 c.700A>G p.Thr234Ala Missense 3/3 -
7-45123090-G-A NACAD c.2689C>T p.Pro897Ser Missense 2/8 -
12-52967368-C-G KRT74 c.194G>C p.Gly65Ala Missense 1/9 -
12-52967368-C-A KRT74 c.194G>T p.Gly65Val Missense 1/9 -
1-161969986-G-A OLFML2B c.866C>T p.Pro289Leu Missense 5/8 -
1-220298664-A-G IARS2 c.1726A>G p.Lys576Glu Missense 13/23 -
6-26184102-G-C HIST1H2BE c.79G>C p.Gly27Arg Missense 1/1 -
X-24329812-G-C SUPT20HL2 c.1621C>G p.Leu541Val Missense 1/1 -
X-24329812-G-A SUPT20HL2 c.1621C>T p.Leu541Phe Missense 1/1 -
17-4844242-C-T RNF167 c.38C>T p.Ala13Val Missense 2/10 -
6-26184102-G-T HIST1H2BE c.79G>T p.Gly27Cys Missense 1/1 -
17-74018597-T-C EVPL c.503A>G p.Tyr168Cys Missense 5/22 -
11-614212-C-T IRF7 c.641G>A p.Gly214Glu Missense 6/11 -
9-34256375-G-A KIF24 c.3230C>T p.Thr1077Met Missense 11/13 -
X-153420176-A-G OPN1LW c.706A>G p.Met236Val Missense 4/6 -
3-33893987-A-G PDCD6IP c.1664A>G p.Asn555Ser Missense 13/18 -
11-82444668-C-A FAM181B c.104G>T p.Gly35Val Missense 1/1 -
16-72170408-C-T PMFBP1 c.1142G>A p.Arg381Gln Missense 9/21 -
3-46620827-A-G TDGF1 c.194A>G p.Gln65Arg Missense 3/6 -
11-82444668-C-G FAM181B c.104G>C p.Gly35Ala Missense 1/1 -
9-136081319-C-T OBP2B c.499G>A p.Val167Ile Missense 6/7 -
9-136081319-C-G OBP2B c.499G>C p.Val167Leu Missense 6/7 -
20-1629930-C-T SIRPG c.198G>A p.Trp66* Nonsense 2/6 -
17-74019453-G-A EVPL c.400C>T p.Arg134Cys Missense 4/22 -
14-105412260-G-T AHNAK2 c.9528C>A p.Asp3176Glu Missense 7/7 -
19-22498942-G-A ZNF729 c.2723G>A p.Cys908Tyr Missense 4/4 -
19-22498942-G-C ZNF729 c.2723G>C p.Cys908Ser Missense 4/4 -
10-76864700-A-T DUSP13 c.*727T>A - IntronicSNV 8/8 -
16-70572328-A-G SF3B3 c.928A>G p.Ile310Val Missense 7/26 -
15-24921115-C-A NPAP1 c.101C>A p.Pro34Gln Missense 1/1 -
20-36640870-C-T TTI1 c.1349G>A p.Arg450His Missense 3/9 -
4-57180563-G-C KIAA1211 c.895G>C p.Gly299Arg Missense 8/11 -
12-40716238-C-T LRRK2 c.5435C>T p.Ala1812Val Missense 37/51 -
1-184853890-T-C FAM129A c.478A>G p.Lys160Glu Missense 5/14 -
21-15873026-T-C SAMSN1 c.796A>G p.Thr266Ala Missense 7/9 -
5-178455114-A-G ZNF879 c.242A>G p.Gln81Arg Missense 4/5 -
19-11472138-T-A PLPPR2 c.637T>A p.Cys213Ser Missense 6/10 -
22-46793621-T-A CELSR1 c.5651A>T p.Asn1884Ile Missense 12/35 -
22-46793621-T-C CELSR1 c.5651A>G p.Asn1884Ser Missense 12/35 -
14-105412260-G-A AHNAK2 c.9528C>T p.Asp3176Asp Synonymous 7/7 -
10-76864700-A-G DUSP13 c.*727T>C - IntronicSNV 8/8 -
1-153233510-A-T LOR c.85A>T p.Ser29Cys Missense 2/2 -
19-15905289-G-T OR10H5 c.431G>T p.Arg144Leu Missense 1/1 -
19-57839690-A-T ZNF543 c.860A>T p.Glu287Val Missense 4/4 -
2-128937391-A-G UGGT1 c.3847A>G p.Lys1283Glu Missense 35/41 -
9-40702760-T-G SPATA31A3 c.417T>G p.His139Gln Missense 4/4 -
9-40702760-T-C SPATA31A3 c.417T>C p.His139His Synonymous 4/4 -
11-4674574-C-T OR51E1 c.818C>T p.Pro273Leu Missense 2/2 -
5-140604564-G-T PCDHB14 c.1487G>T p.Arg496Leu Missense 1/1 -
3-39230740-C-T XIRP1 c.197G>A p.Arg66His Missense 2/2 -
5-140604564-G-C PCDHB14 c.1487G>C p.Arg496Pro Missense 1/1 -
5-140604564-G-A PCDHB14 c.1487G>A p.Arg496Gln Missense 1/1 -
11-65629482-G-C MUS81 c.416G>C p.Arg139Pro Missense 4/16 -
11-65629482-G-T MUS81 c.416G>T p.Arg139Leu Missense 4/16 -
6-117715395-C-G ROS1 c.1094G>C p.Gly365Ala Missense 10/43 -
6-117715395-C-T ROS1 c.1094G>A p.Gly365Asp Missense 10/43 -
1-160057522-C-T KCNJ9 c.1097C>T p.Ala366Val Missense 3/3 -
1-160057522-C-G KCNJ9 c.1097C>G p.Ala366Gly Missense 3/3 -
1-160057522-C-A KCNJ9 c.1097C>A p.Ala366Glu Missense 3/3 -
21-47552201-C-G COL6A2 c.2795C>G p.Pro932Arg Missense 28/28 -
4-126412106-C-G FAT4 c.14129C>G p.Ser4710Cys Missense 17/17 -
1-16914252-C-T NBPF1 c.534G>A p.Glu178Glu Synonymous 10/28 -
22-17288789-G-C XKR3 c.175C>G p.Arg59Gly Missense 2/4 -
22-17288789-G-A XKR3 c.175C>T p.Arg59* Nonsense 2/4 -
17-37785810-C-G PPP1R1B c.160C>G p.His54Asp Missense 3/7 -
19-56543982-G-A NLRP5 c.2282G>A p.Arg761Gln Missense 8/15 -
19-56543982-G-T NLRP5 c.2282G>T p.Arg761Leu Missense 8/15 -
1-152081623-T-C TCHH c.4070A>G p.Glu1357Gly Missense 3/3 -
3-107491892-G-A BBX c.1324G>A p.Ala442Thr Missense 11/17 -
17-37785810-C-A PPP1R1B c.160C>A p.His54Asn Missense 3/7 -
3-195509515-T-G MUC4 c.8936A>C p.Asp2979Ala Missense 2/25 -
3-195509515-T-C MUC4 c.8936A>G p.Asp2979Gly Missense 2/25 -
3-195509515-T-A MUC4 c.8936A>T p.Asp2979Val Missense 2/25 -
2-159672251-C-A DAPL1 c.242C>A p.Ala81Glu Missense 4/4 -
6-170627739-G-T FAM120B c.1261G>T p.Ala421Ser Missense 2/11 -
6-170627739-G-C FAM120B c.1261G>C p.Ala421Pro Missense 2/11 -
12-110474070-T-C ANKRD13A c.1514T>C p.Leu505Pro Missense 14/15 -
4-175414330-C-G HPGD c.634G>C p.Asp212His Missense 6/7 -
7-63674464-T-C ZNF735 c.240T>C p.Asn80Asn Synonymous 3/4 -
1-113162494-G-C CAPZA1 c.28G>C p.Asp10His Missense 1/10 -
1-113162494-G-A CAPZA1 c.28G>A p.Asp10Asn Missense 1/10 -
12-110960196-G-T RAD9B c.1105G>T p.Gly369Trp Missense 10/12 -
X-24329701-C-T SUPT20HL2 c.1732G>A p.Val578Met Missense 1/1 -
3-16926642-A-T PLCL2 c.104A>T - missense_variant 4/9 -
X-135956408-A-G RBMX c.1069T>C p.Tyr357His Missense 9/9 -
21-47581949-C-G SPATC1L c.115G>C p.Ala39Pro Missense 3/4 -
19-45322904-C-A BCAM c.1684C>A p.Leu562Ile Missense 13/15 -
19-45322904-C-T BCAM c.1684C>T p.Leu562Phe Missense 13/15 -
6-158492660-C-T SYNJ2 c.1967C>T p.Thr656Met Missense 15/27 -
3-52538507-C-G STAB1 c.1181C>G p.Ala394Gly Missense 11/69 -
17-8402755-T-C MYH10 c.3784A>G p.Thr1262Ala Missense 30/43 -
14-105414343-C-T AHNAK2 c.7445G>A p.Arg2482Lys Missense 7/7 -
22-38119869-G-A TRIOBP c.1306G>A p.Asp436Asn Missense 7/24 -
10-76864700-A-C DUSP13 c.*727T>G - IntronicSNV 8/8 -
4-175414330-C-T HPGD c.634G>A p.Asp212Asn Missense 6/7 -
7-63674464-T-G ZNF735 c.240T>G p.Asn80Lys Missense 3/4 -
19-991129-G-A WDR18 c.790G>A p.Val264Ile Missense 6/10 -
9-139925383-C-T FUT7 c.808G>A p.Ala270Thr Missense 2/2 -
6-116575116-G-T TSPYL4 c.56C>A p.Ala19Asp Missense 1/1 -
6-116575116-G-A TSPYL4 c.56C>T p.Ala19Val Missense 1/1 -
15-43250212-T-C UBR1 c.4834A>G p.Arg1612Gly Missense 44/47 -
3-16926642-A-G PLCL2 c.104A>G - missense_variant 4/9 -
19-56001665-C-A SSC5D c.476C>A p.Ala159Asp Missense 5/14 -
6-1313117-A-C FOXQ1 c.178A>C p.Thr60Pro Missense 1/1 -
12-11461549-G-C PRB4 c.368C>G p.Pro123Arg Missense 3/4 -
19-58421128-C-A ZNF417 c.518G>T p.Arg173Leu Missense 3/3 -
19-58421128-C-T ZNF417 c.518G>A p.Arg173His Missense 3/3 -
6-132909838-G-A TAAR5 c.988C>T p.Arg330Cys Missense 1/1 -
11-1269215-C-G MUC5B c.11105C>G p.Thr3702Arg Missense 31/49 -
2-27726437-A-C GCKR c.701A>C p.Gln234Pro Missense 9/19 -
21-47581949-C-T SPATC1L c.115G>A p.Ala39Thr Missense 3/4 -
6-138768300-A-C NHSL1 c.514T>G p.Phe172Val Missense 4/7 -
2-122176275-A-C CLASP1 c.2243T>G p.Met748Arg Missense 23/40 -
2-122176275-A-G CLASP1 c.2243T>C p.Met748Thr Missense 23/40 -
5-140567187-A-G PCDHB9 c.295A>G p.Lys99Glu Missense 1/2 -
2-223339437-A-G SGPP2 c.370A>G p.Ile124Val Missense 2/5 -
11-1269215-C-T MUC5B c.11105C>T p.Thr3702Met Missense 31/49 -
1-236180498-C-T NID1 c.2204G>A p.Arg735His Missense 10/20 -
1-236180498-C-A NID1 c.2204G>T p.Arg735Leu Missense 10/20 -
19-21131571-A-G ZNF85 c.251A>G p.Gln84Arg Missense 4/4 -
14-105408827-A-C AHNAK2 c.12961T>G p.Leu4321Val Missense 7/7 -
15-75982085-C-T CSPG4 c.1321G>A p.Glu441Lys Missense 3/10 -
14-105408827-A-T AHNAK2 c.12961T>A p.Leu4321Met Missense 7/7 -
18-9944924-A-G VAPA c.421A>G p.Ile141Val Missense 5/7 -
6-46827239-C-T ADGRF5 c.2401G>A p.Val801Ile Missense 17/21 -
6-170627691-T-A FAM120B c.1213T>A p.Ser405Thr Missense 2/11 -
16-72170408-C-A PMFBP1 c.1142G>T p.Arg381Leu Missense 9/21 -
11-4615857-G-A OR52I1 c.589G>A p.Val197Met Missense 1/1 -
20-36982754-G-A LBP c.439G>A p.Glu147Lys Missense 4/15 -
1-247151487-C-T ZNF695 c.330G>A p.Met110Ile Missense 4/4 -
18-56651514-G-C ZNF532 c.3722G>C p.Gly1241Ala Missense 11/11 -
3-66431144-T-G LRIG1 c.2912A>C p.Asp971Ala Missense 18/19 -
17-27963141-T-C SSH2 c.2026A>G p.Met676Val Missense 14/15 -
7-148950691-G-A ZNF212 c.673G>A p.Glu225Lys Missense 5/5 -
6-111983038-G-A FYN c.1518C>T p.Asp506Asp Synonymous 14/14 -
3-195512597-G-A MUC4 c.5854C>T p.Pro1952Ser Missense 2/25 -
11-4616119-T-C OR52I1 c.851T>C p.Leu284Pro Missense 1/1 -
19-41709438-G-A CYP2S1 c.1060G>A p.Asp354Asn Missense 7/9 -
10-31810514-A-G ZEB1 c.2251A>G p.Thr751Ala Missense 7/9 -
3-66431144-T-C LRIG1 c.2912A>G p.Asp971Gly Missense 18/19 -
3-66431144-T-A LRIG1 c.2912A>T p.Asp971Val Missense 18/19 -
3-195512767-T-G MUC4 c.5684A>C p.Asn1895Thr Missense 2/25 -
19-42861084-G-A MEGF8 c.4580G>A p.Arg1527His Missense 26/41 -
4-184572218-G-A RWDD4 c.282C>T p.Thr94Thr Synonymous 4/8 -
4-110865150-G-C EGF c.662G>C p.Arg221Thr Missense 4/23 -
11-6048456-G-A OR56A1 c.479C>T p.Ala160Val Missense 1/1 -
4-140188094-C-T MGARP c.382G>A p.Ala128Thr Missense 4/4 -
2-233244930-G-T ALPP c.692G>T p.Arg231Leu Missense 6/11 -
17-34891060-C-G MYO19 c.-747G>C - intergenic_variant 1/22 -
5-41018798-A-G MROH2B c.2668T>C p.Phe890Leu Missense 26/42 -
2-233244930-G-C ALPP c.692G>C p.Arg231Pro Missense 6/11 -
3-195506435-T-G MUC4 c.12016A>C p.Thr4006Pro Missense 2/25 -
17-5442790-C-A NLRP1 c.2815G>T p.Val939Leu Missense 7/17 -
4-88583745-G-A DMP1 c.767G>A p.Arg256His Missense 5/5 -
11-118352736-C-A KMT2A c.3941C>A p.Pro1314Gln Missense 7/36 -
1-11907648-C-T NPPA c.94G>A p.Val32Met Missense 1/3 -
4-128811117-G-C PLK4 c.1460G>C p.Trp487Ser Missense 6/15 -
11-71548544-A-G DEFB108B c.158A>G p.Gln53Arg Missense 2/2 -
11-3681054-G-A ART1 c.305G>A p.Arg102His Missense 3/5 -
4-128748467-G-A HSPA4L c.2054G>A p.Gly685Asp Missense 17/19 -
1-110256127-G-A GSTM5 c.199G>A p.Ala67Thr Missense 4/8 -
16-2025080-G-A TBL3 c.616G>A p.Asp206Asn Missense 7/22 -
12-9317784-A-G PZP c.2438T>C p.Val813Ala Missense 19/36 -
17-5442790-C-T NLRP1 c.2815G>A p.Val939Met Missense 7/17 -
1-152636843-A-G LCE2D c.262A>G p.Ser88Gly Missense 2/2 -
15-79058013-C-G ADAMTS7 c.4240G>C p.Gly1414Arg Missense 19/24 -
11-118352736-C-T KMT2A c.3941C>T p.Pro1314Leu Missense 7/36 -
5-145379844-G-C SH3RF2 c.602G>C p.Arg201Pro Missense 3/10 -
5-145379844-G-A SH3RF2 c.602G>A p.Arg201Gln Missense 3/10 -
2-130951949-G-A TUBA3E c.466C>T p.Arg156Trp Missense 4/5 -
1-12726036-C-T AADACL4 c.514C>T p.His172Tyr Missense 4/4 -
19-54744799-G-C LILRA6 c.863C>G p.Pro288Arg Missense 5/8 -
2-233244930-G-A ALPP c.692G>A p.Arg231His Missense 6/11 -
X-135960119-C-T RBMX c.343G>A p.Gly115Arg Missense 4/9 -
9-125620365-C-T RC3H2 c.2291G>A p.Cys764Tyr Missense 13/18 -
2-238289984-C-G COL6A3 c.1471G>C p.Asp491His Missense 5/44 -
18-658170-G-C TYMSOS c.78C>G p.Tyr26* Nonsense 1/2 -
18-658170-G-T TYMSOS c.78C>A p.Tyr26* Nonsense 1/2 -
4-13616104-T-C BOD1L1 c.890A>G p.His297Arg Missense 4/26 -
19-36530562-T-C THAP8 c.335A>G p.Lys112Arg Missense 3/4 -
2-179594107-G-T TTN c.15044C>A p.Thr5015Asn Missense 61/312 -
19-45322624-C-T BCAM c.1495C>T p.Arg499Trp Missense 12/15 -
19-45322624-C-A BCAM c.1495C>A p.Arg499Arg Synonymous 12/15 -
8-121502795-T-G MTBP c.1432T>G p.Leu478Val Missense 13/22 -
4-145040839-C-T GYPA c.232G>A p.Gly78Arg Missense 3/7 -
17-74300497-G-T QRICH2 c.206C>A p.Ala69Glu Missense 3/19 -
5-55237432-A-C IL6ST c.2235T>G p.Asp745Glu Missense 17/17 -
5-109756435-C-T TMEM232 c.1820G>A p.Arg607Gln Missense 14/14 -
2-179594107-G-C TTN c.15044C>G p.Thr5015Ser Missense 61/312 -
15-86311459-C-A KLHL25 c.1583G>T p.Arg528Leu Missense 2/3 -
15-86311459-C-T KLHL25 c.1583G>A p.Arg528His Missense 2/3 -
17-38975328-G-T KRT10 c.1459C>A p.His487Asn Missense 7/8 -
14-104194228-A-C ZFYVE21 c.335A>C p.Lys112Thr Missense 3/7 -
7-4830463-G-A AP5Z1 c.2098G>A p.Val700Met Missense 16/17 -
2-71738977-G-A DYSF c.383G>A p.Gly128Glu Missense 5/55 -
19-50902196-C-T POLD1 c.88C>T p.Arg30Trp Missense 2/27 -
1-60104049-T-C FGGY c.1221+2T>C - IntronicSNV - 11/16
9-130506916-C-T SH2D3C c.1256G>A p.Arg419His Missense 6/11 -
7-33028165-G-T FKBP9 c.940G>T p.Val314Leu Missense 6/10 -
17-7320874-C-T NLGN2 c.2264C>T p.Ala755Val Missense 7/7 -
22-46652736-C-T PKDREJ c.6484G>A p.Val2162Ile Missense 1/1 -
11-5842329-T-G OR52N2 c.764T>G p.Val255Gly Missense 1/1 -
7-33028165-G-C FKBP9 c.940G>C p.Val314Leu Missense 6/10 -
15-33261185-G-T FMN1 c.2048C>A p.Pro683Gln Missense 4/17 -
22-42523528-C-G CYP2D6 c.1094G>C p.Arg365Pro Missense 7/9 -
12-11244149-G-A TAS2R43 c.680C>T p.Ala227Val Missense 1/1 -
5-178507004-A-T ZNF354C c.1571A>T p.Tyr524Phe Missense 5/5 -
7-100678527-G-T MUC17 c.3830G>T p.Ser1277Ile Missense 3/13 -
7-45123823-T-A NACAD c.1956A>T p.Glu652Asp Missense 2/8 -
1-248263471-G-A OR2L13 c.794G>A p.Arg265His Missense 3/3 -
7-45123823-T-G NACAD c.1956A>C p.Glu652Asp Missense 2/8 -
11-77920822-C-A USP35 c.1921C>A p.Arg641Arg Synonymous 10/11 -
1-152636843-A-T LCE2D c.262A>T p.Ser88Cys Missense 2/2 -
5-843723-C-A ZDHHC11 c.620G>T p.Arg207Met Missense 4/13 -
10-29581493-A-C LYZL1 c.185A>C - missense_variant 3/5 -
12-10224073-T-C CLEC1A c.702A>G p.Arg234Arg Synonymous 6/6 -
12-10224073-T-G CLEC1A c.702A>C p.Arg234Ser Missense 6/6 -
6-53133964-C-A ELOVL5 c.861G>T p.Leu287Leu Synonymous 8/8 -
20-52198138-T-G ZNF217 c.1228A>C p.Met410Leu Missense 1/5 -
9-102591042-A-G NR4A3 c.718A>G p.Ser240Gly Missense 3/8 -
3-195514969-G-T MUC4 c.3482C>A p.Ala1161Glu Missense 2/25 -
21-47754471-G-A PCNT c.428G>A p.Arg143His Missense 3/47 -
6-52702355-C-T GSTA5 c.139+1G>A - IntronicSNV - 3/6
14-92922782-G-A SLC24A4 c.1085G>A p.Ser362Asn Missense 12/17 -
14-68272021-C-A ZFYVE26 c.1184G>T p.Gly395Val Missense 8/42 -
19-52000187-C-T SIGLEC12 c.1546G>A p.Val516Met Missense 7/8 -
17-39346622-T-A KRTAP9-1 c.484T>A p.Cys162Ser Missense 1/1 -
3-48463856-G-A PLXNB1 c.1303C>T p.Pro435Ser Missense 5/38 -
20-52198138-T-C ZNF217 c.1228A>G p.Met410Val Missense 1/5 -
8-17815082-T-G PCM1 c.1838T>G p.Ile613Ser Missense 13/39 -
14-64588825-C-T SYNE2 c.13254C>T p.Asn4418Asn Synonymous 69/116 -
15-43819450-A-C MAP1A c.5779A>C p.Lys1927Gln Missense 4/6 -
3-98073065-A-T OR5K4 c.368A>T p.Tyr123Phe Missense 1/1 -
14-64588825-C-A SYNE2 c.13254C>A p.Asn4418Lys Missense 69/116 -
11-73105341-C-G RELT c.767C>G p.Thr256Arg Missense 8/11 -
11-73105341-C-A RELT c.767C>A p.Thr256Lys Missense 8/11 -
16-1306642-C-T TPSD1 c.208C>T p.Leu70Phe Missense 2/5 -
4-184585165-G-A TRAPPC11 c.145G>A p.Val49Ile Missense 2/30 -
4-89358080-A-C HERC6 c.2333A>C p.Asp778Ala Missense 18/22 -
5-26885797-T-C CDH9 c.1808A>G p.Glu603Gly Missense 11/12 -
19-7585663-T-C ZNF358 c.1535T>C p.Leu512Pro Missense 2/2 -
13-25670676-G-A PABPC3 c.340G>A p.Ala114Thr Missense 1/1 -
14-105414377-C-A AHNAK2 c.7411G>T p.Val2471Leu Missense 7/7 -
14-105414377-C-G AHNAK2 c.7411G>C p.Val2471Leu Missense 7/7 -
5-135288632-A-G LECT2 c.71T>C p.Ile24Thr Missense 2/4 -
8-11995062-G-A USP17L2 c.1208C>T p.Ala403Val Missense 1/1 -
X-24329701-C-G SUPT20HL2 c.1732G>C p.Val578Leu Missense 1/1 -
14-76644342-C-T GPATCH2L c.1064C>T p.Ala355Val Missense 7/10 -
16-30976129-T-A SETD1A c.1066T>A p.Ser356Thr Missense 7/19 -
12-52822142-A-G KRT75 c.1280T>C p.Met427Thr Missense 7/9 -
19-53217339-C-T ZNF611 c.119G>A p.Cys40Tyr Missense 6/7 -
19-53217339-C-A ZNF611 c.119G>T p.Cys40Phe Missense 6/7 -
17-39578424-G-T KRT37 c.917C>A p.Ala306Asp Missense 5/7 -
11-71712680-A-T IL18BP c.507+82A>T - IntronicSNV - 4/4
2-179647297-C-T TTN c.3133G>A p.Val1045Met Missense 19/312 -
19-45316588-G-T BCAM c.586G>T p.Val196Leu Missense 5/15 -
19-45316588-G-A BCAM c.586G>A p.Val196Ile Missense 5/15 -
16-88599659-G-C ZFPM1 c.1293G>C p.Lys431Asn Missense 10/10 -
16-88599659-G-A ZFPM1 c.1293G>A p.Lys431Lys Synonymous 10/10 -
3-195514969-G-A MUC4 c.3482C>T p.Ala1161Val Missense 2/25 -
9-138439086-T-A OBP2A c.269T>A p.Phe90Tyr Missense 3/7 -
11-33054856-C-T DEPDC7 c.1364C>T p.Thr455Ile Missense 9/9 -
1-67724382-A-C IL23R c.1461A>C p.Gln487His Missense 11/11 -
20-3732265-G-T HSPA12B c.1513G>T p.Ala505Ser Missense 13/13 -
11-49204779-C-T FOLH1 c.842G>A p.Arg281His Missense 7/19 -
16-12145791-G-C SNX29 c.836G>C p.Gly279Ala Missense 8/21 -
16-12145791-G-A SNX29 c.836G>A p.Gly279Glu Missense 8/21 -
11-101454192-G-A TRPC6 c.43C>T p.Pro15Ser Missense 1/13 -
12-58016890-T-G SLC26A10 c.1023T>G p.Asn341Lys Missense 7/14 -
16-88599659-G-T ZFPM1 c.1293G>T p.Lys431Asn Missense 10/10 -
4-124323155-G-A SPRY1 c.409G>A p.Gly137Arg Missense 3/3 -
4-124323155-G-C SPRY1 c.409G>C p.Gly137Arg Missense 3/3 -
1-16901710-C-G NBPF1 c.2134G>C p.Asp712His Missense 20/28 -
19-39914159-G-A PLEKHG2 c.2465G>A p.Arg822Gln Missense 18/19 -
6-170627797-A-G FAM120B c.1319A>G p.Tyr440Cys Missense 2/11 -
16-1291175-G-A TPSAB1 c.83G>A p.Arg28Gln Missense 3/6 -
14-105418264-G-C AHNAK2 c.3524C>G p.Ala1175Gly Missense 7/7 -
6-152674464-C-A SYNE1 c.11187G>T p.Lys3729Asn Missense 69/146 -
14-105418264-G-A AHNAK2 c.3524C>T p.Ala1175Val Missense 7/7 -
X-24197706-T-A ZFX c.465T>A p.His155Gln Missense 5/10 -
4-75937914-G-C PARM1 c.323G>C p.Gly108Ala Missense 2/4 -
16-67003618-C-A CES3 c.1099C>A p.Arg367Arg Synonymous 9/13 -
4-79188076-T-G FRAS1 c.776T>G p.Leu259Arg Missense 8/42 -
16-67003618-C-T CES3 c.1099C>T p.Arg367Trp Missense 9/13 -
16-12009279-A-G GSPT1 c.299T>C p.Val100Ala Missense 1/15 -
19-17395018-G-A ANKLE1 c.1481G>A p.Arg494Lys Missense 7/9 -
19-55715342-C-T PTPRH c.353-1652G>A - IntronicSNV - 3/17
11-1272167-C-T MUC5B c.14057C>T p.Thr4686Met Missense 31/49 -
21-46057422-T-A TSPEAR c.83-69533A>T - IntronicSNV - 1/11
21-46057422-T-C TSPEAR c.83-69533A>G - IntronicSNV - 1/11
17-7852724-C-G CNTROB c.2608C>G p.Arg870Gly Missense 19/19 -
X-140994017-T-A MAGEC1 c.827T>A p.Phe276Tyr Missense 4/4 -
10-118225571-C-A PNLIPRP3 c.818C>A p.Ser273Tyr Missense 8/12 -
1-152770613-T-G LCE1D c.343T>G - Missense 2/2 -
1-1599812-C-T SLC35E2B c.934G>A p.Val312Ile Missense 8/9 -
19-55105722-G-T LILRA1 c.13G>T p.Val5Phe Missense 2/10 -
2-231120209-G-A SP140 c.1202G>A p.Arg401His Missense 12/27 -
2-231120209-G-C SP140 c.1202G>C p.Arg401Pro Missense 12/27 -
1-24447801-T-C IL22RA1 c.1219A>G p.Met407Val Missense 7/7 -
9-133995629-A-T AIF1L c.373A>T p.Met125Leu Missense 6/6 -
19-40366240-G-A FCGBP c.13994C>T p.Pro4665Leu Missense 30/36 -
6-27840982-C-T HIST1H4L c.307G>A p.Gly103Ser Missense 1/1 -
17-7852724-C-T CNTROB c.2608C>T p.Arg870Cys Missense 19/19 -
10-118225571-C-T PNLIPRP3 c.818C>T p.Ser273Phe Missense 8/12 -
9-136268952-G-T STKLD1 c.1603G>T p.Gly535Cys Missense 15/18 -
7-100678740-T-C MUC17 c.4043T>C p.Leu1348Pro Missense 3/13 -
21-47754549-G-A PCNT c.506G>A p.Arg169His Missense 3/47 -
1-1599812-C-A SLC35E2B c.934G>T p.Val312Phe Missense 8/9 -
1-1599812-C-G SLC35E2B c.934G>C p.Val312Leu Missense 8/9 -
2-231120209-G-T SP140 c.1202G>T p.Arg401Leu Missense 12/27 -
11-824042-C-T PNPLA2 c.964C>T p.Leu322Phe Missense 8/10 -
1-24447801-T-A IL22RA1 c.1219A>T p.Met407Leu Missense 7/7 -
2-120005555-G-A STEAP3 c.793G>A p.Val265Met Missense 4/6 -
17-79225026-C-G SLC38A10 c.2332G>C p.Ala778Pro Missense 14/14 -
15-83502066-C-T WHAMM c.2208C>T p.His736His Synonymous 10/10 -
5-140221139-G-A PCDHA1 c.2394+52870G>A - IntronicSNV - 1/3
19-45296806-C-G CBLC c.1213C>G p.His405Asp Missense 8/11 -
13-23904298-T-G SACS c.13717A>C p.Asn4573His Missense 10/10 -
19-45296806-C-T CBLC c.1213C>T p.His405Tyr Missense 8/11 -
1-12907350-C-T HNRNPCL1 c.793G>A p.Asp265Asn Missense 2/2 -
22-24919586-G-A UPB1 c.917-1G>A - IntronicSNV - 8/9
5-179105675-G-C CBY3 c.638C>G p.Ala213Gly Missense 2/2 -
19-13059563-G-A RAD23A c.536G>A p.Arg179Gln Missense 5/9 -
11-70331642-G-A SHANK2 c.4610C>T p.Ala1537Val Missense 26/27 -
1-12854479-C-T PRAMEF1 c.703C>T p.Arg235Cys Missense 3/4 -
3-42567381-C-T VIPR1 c.295C>T p.Arg99Cys Missense 4/13 -
1-201926422-G-A TIMM17A c.40G>A p.Val14Met Missense 2/6 -
22-21800277-G-A HIC2 c.1093G>A p.Glu365Lys Missense 3/3 -
16-2140294-C-G PKD1 c.12433G>C p.Val4145Leu Missense 45/46 -
1-24397636-A-G MYOM3 c.3121T>C p.Phe1041Leu Missense 25/37 -
10-76855417-C-A DUSP13 c.*618G>T - 3_prime_UTR_variant 7/8 -
1-45923405-C-T TESK2 c.53G>A p.Arg18His Missense 2/11 -
1-151288780-T-G PI4KB c.214A>C p.Lys72Gln Missense 3/13 -
7-100679760-G-A MUC17 c.5063G>A p.Gly1688Glu Missense 3/13 -
1-12907285-G-A HNRNPCL1 c.858C>T p.Ser286Ser Synonymous 2/2 -
12-56737251-C-A STAT2 c.2478G>T p.Gln826His Missense 24/24 -
9-134308126-G-A PRRC2B c.238G>A p.Val80Ile Missense 2/31 -
22-30189643-G-A ASCC2 c.1711C>T p.Arg571Trp Missense 16/20 -
1-45276242-C-G BTBD19 c.317C>G p.Thr106Arg Missense 3/8 -
1-20960385-A-C PINK1 c.344A>C p.Gln115Pro Missense 1/8 -
14-105412259-G-C AHNAK2 c.9529C>G p.Leu3177Val Missense 7/7 -
10-81317045-G-T SFTPA2 c.667C>A p.Gln223Lys Missense 6/6 -
X-47705674-C-T ZNF81 c.8C>T p.Ala3Val Missense 2/5 -
12-11183708-T-C TAS2R31 c.227A>G p.Tyr76Cys Missense 1/1 -
13-61989290-A-C PCDH20 c.2T>G p.Met1Arg Missense 1/2 -
13-61989290-A-G PCDH20 c.2T>C p.Met1Thr Missense 1/2 -
7-100677630-C-T MUC17 c.2933C>T p.Pro978Leu Missense 3/13 -
12-8612294-G-A CLEC6A c.223G>A p.Ala75Thr Missense 3/6 -
1-44202061-G-C ST3GAL3 c.128G>C p.Ser43Thr Missense 2/13 -
14-105412259-G-T AHNAK2 c.9529C>A p.Leu3177Met Missense 7/7 -
2-109276099-G-T LIMS1 c.35G>T p.Arg12Leu Missense 2/10 -
3-195506435-T-C MUC4 c.12016A>G p.Thr4006Ala Missense 2/25 -
1-235866186-C-T LYST c.10235G>A p.Arg3412His Missense 45/53 -
3-195512767-T-C MUC4 c.5684A>G p.Asn1895Ser Missense 2/25 -
13-21957120-G-A ZDHHC20 c.883C>T p.Arg295Cys Missense 10/12 -
18-47318626-T-C ACAA2 c.649A>G p.Met217Val Missense 6/10 -
4-88537063-A-T DSPP c.3249A>T p.Glu1083Asp Missense 5/5 -
4-88537063-A-G DSPP c.3249A>G p.Glu1083Glu Synonymous 5/5 -
14-23859610-C-A MYH6 c.3388G>T p.Ala1130Ser Missense 26/39 -
7-100677285-G-A MUC17 c.2588G>A p.Gly863Glu Missense 3/13 -
14-33015531-A-G AKAP6 c.1672A>G p.Asn558Asp Missense 4/14 -
12-7527284-C-T CD163L1 c.3163G>A p.Gly1055Ser Missense 13/20 -
16-70161263-T-A PDPR c.328T>A p.Tyr110Asn Missense 4/19 -
11-308314-T-C IFITM2 c.122T>C p.Met41Thr Missense 1/2 -
11-56756516-G-C OR5AK2 c.128G>C p.Ser43Thr Missense 1/1 -
3-39230740-C-G XIRP1 c.197G>C p.Arg66Pro Missense 2/2 -
2-189918622-G-A COL5A2 c.2498C>T p.Pro833Leu Missense 37/54 -
20-48467309-T-G SLC9A8 c.545T>G p.Phe182Cys Missense 7/16 -
9-114423924-G-A GNG10 c.10G>A p.Gly4Arg Missense 1/3 -
16-84778685-A-G USP10 c.610A>G p.Met204Val Missense 5/15 -
15-69327727-C-T NOX5 c.889C>T p.Arg297Trp Missense 6/16 -
22-23915631-G-A IGLL1 c.464C>T p.Pro155Leu Missense 3/3 -
2-135745064-T-C MAP3K19 c.1378A>G p.Ser460Gly Missense 7/10 -
16-89258747-A-C CDH15 c.1750A>C p.Lys584Gln Missense 11/14 -
8-21981218-C-T HR c.1859G>A p.Arg620Gln Missense 6/19 -
19-51584858-C-T KLK14 c.143G>A - missense_variant 4/7 -
15-59806496-G-A FAM81A c.659G>A p.Gly220Asp Missense 7/9 -
15-59806496-G-T FAM81A c.659G>T p.Gly220Val Missense 7/9 -
1-161642982-G-T FCGR2B c.609G>T p.Thr203Thr Synonymous 4/8 -
1-161642982-G-A FCGR2B c.609G>A p.Thr203Thr Synonymous 4/8 -
1-12919646-T-C PRAMEF2 c.386T>C p.Met129Thr Missense 3/4 -
16-31088544-C-A ZNF646 c.899C>A p.Pro300His Missense 2/3 -
14-23744823-A-C HOMEZ c.1614T>G p.Asp538Glu Missense 2/2 -
16-1306642-C-G TPSD1 c.208C>G p.Leu70Val Missense 2/5 -
14-23744823-A-T HOMEZ c.1614T>A p.Asp538Glu Missense 2/2 -
13-23907724-C-A SACS c.10291G>T p.Val3431Leu Missense 10/10 -
13-23907724-C-G SACS c.10291G>C p.Val3431Leu Missense 10/10 -
X-38020288-G-A SRPX c.673C>T p.Pro225Ser Missense 6/10 -
12-108956417-T-G ISCU c.-153T>G - 5_prime_UTR_variant 1/6 -
4-141294814-G-C SCOC c.71-5461G>C - IntronicSNV - 2/4
19-36530913-C-T THAP8 c.209G>A p.Arg70His Missense 2/4 -
5-118506879-A-T DMXL1 c.6393A>T p.Arg2131Ser Missense 24/43 -
5-118506879-A-C DMXL1 c.6393A>C p.Arg2131Ser Missense 24/43 -
19-36530913-C-A THAP8 c.209G>T p.Arg70Leu Missense 2/4 -
11-77920822-C-G USP35 c.1921C>G p.Arg641Gly Missense 10/11 -
1-11718859-C-T FBXO44 c.430C>T p.Arg144Cys Missense 4/5 -
19-16035680-G-A CYP4F11 c.538C>T p.Arg180Cys Missense 5/12 -
1-12907285-G-C HNRNPCL1 c.858C>G p.Ser286Arg Missense 2/2 -
3-195506318-C-G MUC4 c.12133G>C p.Asp4045His Missense 2/25 -
12-52995020-C-T KRT72 c.217G>A p.Gly73Ser Missense 1/9 -
3-9918818-C-T CIDEC c.139G>A p.Val47Ile Missense 3/6 -
17-18233949-C-T SHMT1 c.1091G>A p.Arg364His Missense 10/12 -
10-88782100-G-C FAM25A c.103G>C p.Val35Leu Missense 2/3 -
1-177242718-T-C BRINP2 c.764T>C p.Val255Ala Missense 5/8 -
1-11718859-C-G FBXO44 c.430C>G p.Arg144Gly Missense 4/5 -
1-11718859-C-A FBXO44 c.430C>A p.Arg144Ser Missense 4/5 -
1-171179939-G-T FMO2 c.*1655G>T - 3_prime_UTR_variant 9/9 -
19-15905468-T-G OR10H5 c.610T>G p.Cys204Gly Missense 1/1 -
14-105416220-T-C AHNAK2 c.5568A>G p.Glu1856Glu Synonymous 7/7 -
14-105416220-T-A AHNAK2 c.5568A>T p.Glu1856Asp Missense 7/7 -
14-105416220-T-G AHNAK2 c.5568A>C p.Glu1856Asp Missense 7/7 -
19-40964447-C-A BLVRB c.85G>T p.Glu29* Nonsense 2/5 -
19-40964447-C-T BLVRB c.85G>A p.Glu29Lys Missense 2/5 -
19-15989730-T-C CYP4F2 c.1414A>G p.Thr472Ala Missense 13/13 -
19-16035680-G-T CYP4F11 c.538C>A p.Arg180Ser Missense 5/12 -
7-136935977-C-A PTN c.451G>T p.Ala151Ser Missense 4/5 -
17-7909747-C-T GUCY2D c.1093C>T p.Arg365Trp Missense 4/20 -
17-18233949-C-G SHMT1 c.1091G>C p.Arg364Pro Missense 10/12 -
2-96781257-C-G ADRA2B c.632G>C p.Gly211Ala Missense 1/1 -
2-96781257-C-A ADRA2B c.632G>T p.Gly211Val Missense 1/1 -
17-39254247-A-T KRTAP4-8 c.90T>A p.Cys30* Nonsense 1/1 -
14-105417581-C-T AHNAK2 c.4207G>A p.Glu1403Lys Missense 7/7 -
22-43618695-C-A SCUBE1 c.1381G>T p.Ala461Ser Missense 12/22 -
11-63449125-C-A RTN3 c.17C>A p.Ala6Glu Missense 1/7 -
19-40902776-C-G PRX c.*1688G>C - 3-UTRSNV 6/6 -
6-17637697-G-C NUP153 c.2244C>G p.Asp748Glu Missense 17/23 -
22-51183255-A-G ACR c.886A>G p.Met296Val Missense 5/5 -
1-201754444-G-C NAV1 c.2811G>C p.Gln937His Missense 8/30 -
7-100635535-C-G MUC12 c.1691C>G p.Ser564Cys Missense 2/12 -
7-100635535-C-T MUC12 c.1691C>T p.Ser564Phe Missense 2/12 -
5-109756435-C-G TMEM232 c.1820G>C p.Arg607Pro Missense 14/14 -
11-124742385-G-A ROBO3 c.1267G>A p.Val423Met Missense 8/28 -
4-155411948-C-T DCHS2 c.560G>A p.Arg187His Missense 1/8 -
5-140626566-A-C PCDHB15 c.1420A>C p.Ser474Arg Missense 1/1 -
3-69230592-T-G FRMD4B c.2309A>C p.Asn770Thr Missense 21/23 -
21-45959256-C-A TSPEAR c.304-5450G>T - IntronicSNV - 2/11
19-15234351-C-T ILVBL c.172G>A p.Val58Met Missense 3/16 -
21-45959256-C-G TSPEAR c.304-5450G>C - IntronicSNV - 2/11
19-53268990-C-G ZNF600 c.2019G>C p.Lys673Asn Missense 3/3 -
19-51919286-G-A SIGLEC10 c.890C>T p.Ser297Leu Missense 5/11 -
12-56514414-G-A ZC3H10 c.68G>A p.Ser23Asn Missense 3/3 -
20-42355213-G-A GTSF1L c.122C>T p.Ala41Val Missense 1/1 -
7-82784588-C-T PCLO c.1369G>A p.Gly457Arg Missense 2/20 -
13-25021263-T-C PARP4 c.3176A>G p.Gln1059Arg Missense 26/34 -
3-195505960-G-A MUC4 c.12491C>T p.Thr4164Ile Missense 2/25 -
3-195505960-G-C MUC4 c.12491C>G p.Thr4164Ser Missense 2/25 -
12-129189702-C-G TMEM132C c.2189C>G p.Thr730Ser Missense 9/9 -
17-30372739-C-T LRRC37B c.2144C>T p.Ala715Val Missense 8/12 -
7-144015437-C-G OR2A1 c.220C>G p.Arg74Gly Missense 1/1 -
14-39716830-C-A MIA2 c.1052C>A p.Ala351Asp Missense 4/6 -
14-39716830-C-T MIA2 c.1052C>T p.Ala351Val Missense 4/6 -
7-100187349-T-A FBXO24 c.3+83T>A - IntronicSNV - 1/9
14-45645715-A-G FANCM c.3758A>G p.Asn1253Ser Missense 14/23 -
14-45645715-A-T FANCM c.3758A>T p.Asn1253Ile Missense 14/23 -
16-46755060-T-C MYLK3 c.1960A>G p.Ile654Val Missense 9/13 -
16-46755060-T-A MYLK3 c.1960A>T p.Ile654Phe Missense 9/13 -
9-43625382-G-A SPATA31A6 c.3305C>T p.Pro1102Leu Missense 4/4 -
19-41627868-G-A CYP2F1 c.652G>A p.Asp218Asn Missense 6/10 -
14-39716830-C-G MIA2 c.1052C>G p.Ala351Gly Missense 4/6 -
14-105418223-A-G AHNAK2 c.3565T>C p.Ser1189Pro Missense 7/7 -
19-11470370-C-T PLPPR2 c.229C>T p.Leu77Leu Synonymous 4/10 -
19-11470370-C-G PLPPR2 c.229C>G p.Leu77Val Missense 4/10 -
X-6451886-A-G VCX3A c.461T>C p.Leu154Pro Missense 3/3 -
3-195507086-C-G MUC4 c.11365G>C p.Asp3789His Missense 2/25 -
3-195509402-T-G MUC4 c.9049A>C p.Ile3017Leu Missense 2/25 -
4-155407595-C-A DCHS2 c.2052+2861G>T - IntronicSNV - 1/7
1-33235789-C-A KIAA1522 c.832C>A p.Pro278Thr Missense 6/7 -
9-33385863-G-T AQP7 c.527C>A p.Ala176Glu Missense 7/8 -
1-33235789-C-T KIAA1522 c.832C>T p.Pro278Ser Missense 6/7 -
1-114367793-C-T PTPN22 c.2252G>A p.Ser751Asn Missense 19/21 -
7-92732769-T-C SAMD9 c.2642A>G p.Asp881Gly Missense 3/3 -
16-4557846-A-T HMOX2 c.337A>T p.Met113Leu Missense 5/7 -
8-144944226-G-A EPPK1 c.3196C>T p.Arg1066Cys Missense 2/3 -
7-143632618-C-T OR2F2 c.293C>T p.Ala98Val Missense 1/1 -
16-4557846-A-G HMOX2 c.337A>G p.Met113Val Missense 5/7 -
14-104194228-A-G ZFYVE21 c.335A>G p.Lys112Arg Missense 3/7 -
16-1291622-A-G TPSAB1 c.421A>G p.Thr141Ala Missense 4/6 -
1-109801345-C-T CELSR2 c.3602C>T p.Pro1201Leu Missense 2/34 -
4-155411948-C-A DCHS2 c.560G>T p.Arg187Leu Missense 1/8 -
6-44233679-G-A NFKBIE c.1-179C>T - IntergenicSNV 1/6 -
1-17287301-A-G CROCC c.4081A>G p.Thr1361Ala Missense 27/37 -
7-39504094-A-C POU6F2 c.1885A>C p.Asn629His Missense 11/11 -
17-76121031-C-T TMC6 c.572G>A p.Gly191Asp Missense 7/20 -
11-49076898-T-G TRIM64C c.823A>C p.Ile275Leu Missense 5/6 -
15-81180069-C-T CEMIP c.832C>T p.Pro278Ser Missense 7/29 -
7-142563253-T-A EPHB6 c.94T>A p.Ser32Thr Missense 7/19 -
7-142563253-T-G EPHB6 c.94T>G p.Ser32Ala Missense 7/19 -
16-89883007-A-T FANCA c.17T>A p.Val6Asp Missense 1/43 -
18-76754584-G-T SALL3 c.2593G>T p.Val865Leu Missense 2/3 -
14-70924566-C-G ADAM21 c.350C>G p.Ala117Gly Missense 2/2 -
14-70924566-C-A ADAM21 c.350C>A p.Ala117Glu Missense 2/2 -
21-46057418-G-A TSPEAR c.83-69529C>T - IntronicSNV - 1/11
21-46057418-G-C TSPEAR c.83-69529C>G - IntronicSNV - 1/11
5-140568412-C-T PCDHB9 c.1518C>T - synonymous_variant 2/2 -
17-61987812-A-G CSHL1 c.274T>C p.Ser92Pro Missense 3/5 -
12-11546192-G-T PRB2 c.820C>A p.Pro274Thr Missense 3/4 -
X-6451929-C-G VCX3A c.418G>C p.Val140Leu Missense 3/3 -
X-6451929-C-T VCX3A c.418G>A p.Val140Met Missense 3/3 -
22-39908419-C-T MIEF1 c.505C>T p.Arg169Trp Missense 5/6 -
15-79058951-T-A ADAMTS7 c.3302A>T p.His1101Leu Missense 19/24 -
7-100679136-T-C MUC17 c.4439T>C p.Val1480Ala Missense 3/13 -
17-7220881-C-T NEURL4 c.4217G>A p.Arg1406His Missense 27/29 -
11-72413997-G-A ARAP1 c.2120C>T p.Ala707Val Missense 15/35 -
6-38850809-C-A DNAH8 c.7982C>A p.Thr2661Asn Missense 54/93 -
6-38850809-C-G DNAH8 c.7982C>G p.Thr2661Ser Missense 54/93 -
11-60184277-A-G MS4A14 c.1785A>G p.Gln595Gln Synonymous 4/4 -
19-40408821-C-T FCGBP c.4018G>A p.Val1340Met Missense 8/36 -
15-83718875-T-C BTBD1 c.614A>G p.Lys205Arg Missense 3/7 -
10-135025208-A-G KNDC1 c.4082A>G p.Lys1361Arg Missense 23/30 -
17-5037195-G-A USP6 c.398G>A p.Arg133Lys Missense 7/30 -
21-43786532-C-T TFF1 c.73G>A p.Glu25Lys Missense 1/3 -
5-140595343-G-T PCDHB13 c.1648G>T p.Val550Leu Missense 1/1 -
5-140595343-G-C PCDHB13 c.1648G>C p.Val550Leu Missense 1/1 -
5-140595343-G-A PCDHB13 c.1648G>A p.Val550Met Missense 1/1 -
7-100684593-G-T MUC17 c.9896G>T p.Ser3299Ile Missense 3/13 -
14-105419234-T-A AHNAK2 c.2554A>T p.Met852Leu Missense 7/7 -
14-105419234-T-C AHNAK2 c.2554A>G p.Met852Val Missense 7/7 -
14-24534916-G-T CARMIL3 c.3482G>T p.Gly1161Val Missense 34/40 -
1-16890602-T-C NBPF1 c.3481A>G - missense_variant 28/28 -
1-16890602-T-G NBPF1 c.3481A>C - missense_variant 28/28 -
17-295630-A-T RFLNB c.377T>A - missense_variant 1/2 -
4-90857479-G-C MMRN1 c.2648G>C p.Gly883Ala Missense 6/8 -
4-90857479-G-A MMRN1 c.2648G>A p.Gly883Asp Missense 6/8 -
11-126075608-G-A RPUSD4 c.626C>T p.Ala209Val Missense 4/7 -
X-140994017-T-C MAGEC1 c.827T>C p.Phe276Ser Missense 4/4 -
19-15905505-T-C OR10H5 c.647T>C p.Leu216Pro Missense 1/1 -
10-29581601-G-A LYZL1 c.431G>A p.Cys144Tyr Missense 5/5 -
11-56468638-G-T OR9G1 c.775G>T p.Ala259Ser Missense 1/1 -
19-54744210-A-G LILRA6 c.1198T>C p.Tyr400His Missense 6/8 -
10-29581601-G-T LYZL1 c.431G>T p.Cys144Phe Missense 5/5 -
17-4693342-C-A GLTPD2 c.627C>A p.Asp209Glu Missense 4/4 -
17-38975328-G-C KRT10 c.1459C>G p.His487Asp Missense 7/8 -
17-38975328-G-A KRT10 c.1459C>T p.His487Tyr Missense 7/8 -
X-54978373-C-T PFKFB1 c.745G>A p.Gly249Arg Missense 8/14 -
X-20252889-A-C RPS6KA3 c.113T>G p.Ile38Ser Missense 2/22 -
2-102851671-C-T IL1RL2 c.1612C>T p.Pro538Ser Missense 11/12 -
1-153233510-A-G LOR c.85A>G p.Ser29Gly Missense 2/2 -
7-6844574-C-G CCZ1B c.1101G>C p.Met367Ile Missense 12/15 -
11-34988311-C-T PDHX c.766C>T p.Pro256Ser Missense 6/11 -
6-135751024-G-A AHI1 c.2488C>T p.Arg830Trp Missense 17/28 -
7-6844574-C-A CCZ1B c.1101G>T p.Met367Ile Missense 12/15 -
17-48542714-G-T CHAD c.1025C>A p.Ala342Asp Missense 3/4 -
2-190571776-A-G ANKAR c.2023A>G p.Ile675Val Missense 9/23 -
11-18729488-C-T IGSF22 c.3143G>A p.Arg1048Gln Missense 20/23 -
1-25747156-T-C RHCE c.122A>G p.Gln41Arg Missense 1/10 -
20-62194510-T-C HELZ2 c.5665A>G p.Thr1889Ala Missense 9/20 -
22-19511925-G-C CLDN5 c.109C>G p.Gln37Glu Missense 2/2 -
6-149068627-A-C UST c.61A>C p.Met21Leu Missense 1/8 -
7-72992858-C-G TBL2 c.22G>C p.Glu8Gln Missense 1/7 -
7-72992858-C-T TBL2 c.22G>A p.Glu8Lys Missense 1/7 -
9-95640171-C-T ZNF484 c.-31+1G>A - splice_donor_variant - 1/4
15-34646769-G-A NUTM1 c.1114G>A p.Val372Ile Missense 6/8 -
19-10671912-T-G KRI1 c.536A>C p.Asp179Ala Missense 7/19 -
7-33028165-G-A FKBP9 c.940G>A p.Val314Met Missense 6/10 -
7-100646824-C-A MUC12 c.12980C>A p.Thr4327Asn Missense 2/12 -
3-119343970-G-C PLA1A c.965-1G>C - IntronicSNV - 8/10
13-38211702-T-G TRPC4 c.2287A>C p.Lys763Gln Missense 11/11 -
18-44555147-T-G KATNAL2 c.1-24198T>G - IntronicSNV - 1/14
20-19937312-G-A RIN2 c.359G>A p.Cys120Tyr Missense 4/12 -
19-51523074-A-G KLK10 c.-13+2T>C - splice_donor_variant - 1/5
17-40822308-C-A PLEKHH3 c.1641G>T p.Gln547His Missense 11/13 -
19-5867177-G-A FUT5 c.560C>T p.Pro187Leu Missense 2/2 -
7-100646824-C-T MUC12 c.12980C>T p.Thr4327Ile Missense 2/12 -
12-112037000-G-C ATXN2 c.-162C>G - 5_prime_UTR_variant 1/25 -
19-39229089-A-G CAPN12 c.859T>C p.Cys287Arg Missense 7/21 -
16-4383398-G-T GLIS2 c.223G>T p.Ala75Ser Missense 2/6 -
11-47711820-A-G AGBL2 c.1439T>C p.Leu480Pro Missense 10/19 -
19-58864480-G-C A1BG c.154C>G p.His52Asp Missense 3/8 -
9-2191388-G-A SMARCA2 c.4717G>A p.Asp1573Asn Missense 33/34 -
9-2191388-G-C SMARCA2 c.4717G>C p.Asp1573His Missense 33/34 -
5-134345125-A-G CATSPER3 c.881A>G p.Lys294Arg Missense 6/8 -
22-42523528-C-T CYP2D6 c.1094G>A p.Arg365His Missense 7/9 -
19-10385488-C-T ICAM1 c.115C>T p.Pro39Ser Missense 2/7 -
12-69140339-G-C SLC35E3 c.182G>C p.Cys61Ser Missense 1/5 -
17-31618997-C-A ASIC2 c.556-179912G>T - IntronicSNV - 1/9
6-137245567-C-A SLC35D3 c.984C>A p.Asp328Glu Missense 2/2 -
6-137245567-C-G SLC35D3 c.984C>G p.Asp328Glu Missense 2/2 -
3-42732452-C-T KLHL40 c.1709C>T p.Thr570Met Missense 5/6 -
6-149068627-A-T UST c.61A>T p.Met21Leu Missense 1/8 -
X-23933912-G-A CXorf58 c.311+1G>A - IntronicSNV - 4/8
12-122845698-C-A CLIP1 c.813G>T p.Leu271Phe Missense 5/25 -
5-178507004-A-G ZNF354C c.1571A>G p.Tyr524Cys Missense 5/5 -
7-100677714-C-T MUC17 c.3017C>T p.Thr1006Ile Missense 3/13 -
16-89348038-G-T ANKRD11 c.4912C>A p.Pro1638Thr Missense 9/13 -
1-12856010-C-G PRAMEF1 c.1290C>G p.Phe430Leu Missense 4/4 -
3-186395437-G-A HRG c.1343G>A p.Arg448His Missense 7/7 -
12-11461706-G-C PRB4 c.211C>G p.Pro71Ala Missense 3/4 -
12-11461706-G-T PRB4 c.211C>A p.Pro71Thr Missense 3/4 -
11-71507205-C-A FAM86C1 c.302C>A p.Pro101Gln Missense 3/4 -
22-27019264-G-A CRYBA4 c.106G>A p.Val36Met Missense 3/6 -
17-39254257-G-T KRTAP4-8 c.80C>A p.Pro27His Missense 1/1 -
17-39254257-G-C KRTAP4-8 c.80C>G p.Pro27Arg Missense 1/1 -
14-105418223-A-T AHNAK2 c.3565T>A p.Ser1189Thr Missense 7/7 -
21-43531325-C-T UMODL1 c.1899+94C>T - IntronicSNV - 11/22
17-39503163-G-A KRT33A c.809C>T p.Ala270Val Missense 5/7 -
19-23543095-T-C ZNF91 c.2686A>G p.Thr896Ala Missense 4/4 -
9-39171471-C-A CNTNAP3 c.1228G>T p.Gly410Cys Missense 8/24 -
4-10089539-T-C WDR1 c.323A>G p.His108Arg Missense 5/12 -
5-23527565-A-G PRDM9 c.2368A>G p.Asn790Asp Missense 11/11 -
19-53086598-G-A ZNF701 c.1286G>A p.Arg429His Missense 4/4 -
1-248084464-T-C OR2T8 c.145T>C p.Trp49Arg Missense 1/1 -
1-248084464-T-G OR2T8 c.145T>G p.Trp49Gly Missense 1/1 -
2-75937801-C-T GCFC2 c.181G>A p.Val61Ile Missense 1/17 -
4-120528064-A-C PDE5A c.541T>G p.Ser181Ala Missense 2/21 -
21-47703746-A-G MCM3AP c.1226T>C p.Leu409Pro Missense 2/28 -
1-228504670-C-T OBSCN c.13546C>T p.Arg4516Trp Missense 51/81 -
9-130506916-C-A SH2D3C c.1256G>T p.Arg419Leu Missense 6/11 -
18-34740290-A-C KIAA1328 c.1360A>C p.Lys454Gln Missense 8/10 -
1-3679886-C-T CCDC27 c.1169C>T p.Pro390Leu Missense 7/12 -
7-75051368-T-C POM121C c.2167A>G p.Thr723Ala Missense 13/15 -
22-25294369-G-A SGSM1 c.2618G>A p.Arg873Lys Missense 20/26 -
11-551741-C-A LRRC56 c.887C>A p.Ser296Tyr Missense 10/14 -
11-551741-C-T LRRC56 c.887C>T p.Ser296Phe Missense 10/14 -
3-186461524-C-T KNG1 c.*1404C>T - IntergenicSNV 10/10 -
2-215815751-T-G ABCA12 c.6704A>C p.Glu2235Ala Missense 45/53 -
19-10102492-G-A COL5A3 c.1919C>T p.Pro640Leu Missense 23/67 -
19-10102492-G-T COL5A3 c.1919C>A p.Pro640Gln Missense 23/67 -
3-186461524-C-A KNG1 c.*1404C>A - IntergenicSNV 10/10 -
11-62543326-C-T TAF6L c.71C>T p.Thr24Met Missense 2/11 -
21-11049621-G-A BAGE2 c.280C>T p.Arg94* Nonsense 4/10 -
21-11049621-G-T BAGE2 c.280C>A p.Arg94Arg Synonymous 4/10 -
19-9578370-C-T ZNF560 c.1253G>A p.Gly418Asp Missense 10/10 -
15-24921115-C-T NPAP1 c.101C>T p.Pro34Leu Missense 1/1 -
16-4165439-G-T ADCY9 c.5C>A p.Ala2Asp Missense 2/11 -
3-132337477-C-T ACAD11 c.1414+1G>A - IntronicSNV - 11/19
3-132337477-C-A ACAD11 c.1414+1G>T - IntronicSNV - 11/19
14-105416959-A-T AHNAK2 c.4829T>A p.Val1610Glu Missense 7/7 -
3-52538507-C-T STAB1 c.1181C>T p.Ala394Val Missense 11/69 -
10-51827934-G-A WASHC2A c.73G>A p.Val25Met Missense 2/31 -
3-125648343-G-T ALG1L c.416C>A p.Ser139* Nonsense 6/6 -
16-11362819-G-A TNP2 c.301C>T p.Arg101Cys Missense 1/2 -
10-73594215-C-A PSAP c.88G>T p.Ala30Ser Missense 2/14 -
3-125648343-G-A ALG1L c.416C>T p.Ser139Leu Missense 6/6 -
16-3304626-C-T MEFV c.442G>A p.Glu148Lys Missense 2/10 -
1-152785170-G-A LCE1B c.248G>A p.Arg83His Missense 1/1 -
5-140559596-T-G PCDHB8 c.1981T>G p.Leu661Val Missense 1/1 -
22-24574137-C-G CABIN1 c.6636C>G p.Asp2212Glu Missense 37/37 -
11-56468638-G-A OR9G1 c.775G>A p.Ala259Thr Missense 1/1 -
13-24895745-A-G C1QTNF9 c.841A>G p.Met281Val Missense 4/4 -
22-24574137-C-A CABIN1 c.6636C>A p.Asp2212Glu Missense 37/37 -
22-24574137-C-T CABIN1 c.6636C>T p.Asp2212Asp Synonymous 37/37 -
X-153418514-G-C OPN1LW c.511G>C p.Val171Leu Missense 3/6 -
13-24465537-C-T C1QTNF9B c.893G>A p.Gly298Glu Missense 3/3 -
13-24465537-C-G C1QTNF9B c.893G>C p.Gly298Ala Missense 3/3 -
13-23907724-C-T SACS c.10291G>A p.Val3431Ile Missense 10/10 -
15-62989946-C-T TLN2 c.1352C>T p.Ala451Val Missense 12/56 -
17-81009636-T-G B3GNTL1 c.37A>C p.Ser13Arg Missense 1/13 -
21-47552201-C-T COL6A2 c.2795C>T p.Pro932Leu Missense 28/28 -
21-15593485-C-A RBM11 c.327C>A p.Asn109Lys Missense 3/5 -
12-112478316-G-A NAA25 c.2507C>T p.Thr836Ile Missense 21/24 -
6-170627695-A-G FAM120B c.1217A>G p.Asp406Gly Missense 2/11 -
11-47270313-G-A ACP2 c.28C>T p.Arg10Trp Missense 1/11 -
16-11023415-G-A DEXI c.*151C>T - splice_region_variant,3_prime_UTR_variant 2/2 -
14-64580075-T-G SYNE2 c.12626T>G p.Ile4209Ser Missense 66/116 -
14-64580075-T-C SYNE2 c.12626T>C p.Ile4209Thr Missense 66/116 -
4-153874666-G-A FHDC1 c.514G>A p.Ala172Thr Missense 2/11 -
1-16730308-G-A SPATA21 c.915C>T p.His305His Synonymous 10/13 -
1-16730308-G-T SPATA21 c.915C>A p.His305Gln Missense 10/13 -
12-8376068-T-C FAM90A1 c.409A>G p.Thr137Ala Missense 6/7 -
7-30649268-C-T GARS c.803C>T p.Thr268Ile Missense 7/17 -
X-49179711-A-T GAGE12J c.39A>T p.Arg13Ser Missense 2/5 -
7-100678740-T-A MUC17 c.4043T>A p.Leu1348Gln Missense 3/13 -
1-47078762-T-C MOB3C c.388A>G p.Met130Val Missense 2/4 -
5-112888882-A-T YTHDC2 c.1693A>T p.Thr565Ser Missense 13/30 -
1-159890163-T-C TAGLN2 c.137A>G p.Gln46Arg Missense 2/5 -
1-159890163-T-A TAGLN2 c.137A>T p.Gln46Leu Missense 2/5 -
15-79058013-C-T ADAMTS7 c.4240G>A p.Gly1414Ser Missense 19/24 -
16-2140294-C-T PKD1 c.12433G>A p.Val4145Ile Missense 45/46 -
2-97527061-A-G SEMA4C c.1804T>C p.Ser602Pro Missense 15/15 -
2-97527061-A-T SEMA4C c.1804T>A p.Ser602Thr Missense 15/15 -
17-42476576-G-A GPATCH8 c.2869C>T p.Arg957Trp Missense 8/8 -
7-143021535-C-T CLCN1 c.803C>T p.Thr268Met Missense 7/23 -
4-122250654-G-T QRFPR c.1111C>A p.Arg371Arg Synonymous 6/6 -
4-122250654-G-A QRFPR c.1111C>T p.Arg371Trp Missense 6/6 -
2-112620003-T-C ANAPC1 c.1225A>G p.Ile409Val Missense 10/48 -
X-8138165-C-G VCX2 c.328G>C p.Val110Leu Missense 3/3 -
2-225244352-G-A FAM124B c.*612C>T - 3_prime_UTR_variant 3/3 -
11-77920822-C-T USP35 c.1921C>T p.Arg641Trp Missense 10/11 -
6-39552754-T-C KIF6 c.997A>G p.Ile333Val Missense 9/23 -
4-6302838-T-G WFS1 c.1316T>G p.Phe439Cys Missense 8/8 -
9-114423924-G-C GNG10 c.10G>C p.Gly4Arg Missense 1/3 -
8-442580-G-A TDRP c.377C>T p.Thr126Ile Missense 4/4 -
8-442580-G-T TDRP c.377C>A p.Thr126Asn Missense 4/4 -
19-14165598-C-T PALM3 c.886G>A - missense_variant 7/7 -
15-33261185-G-A FMN1 c.2048C>T p.Pro683Leu Missense 4/17 -
19-52888049-C-A ZNF880 c.1216C>A p.Gln406Lys Missense 4/4 -
11-68377475-A-G PPP6R3 c.2314A>G p.Ser772Gly Missense 22/23 -
3-44488293-T-C ZNF445 c.2870A>G p.Glu957Gly Missense 8/8 -
11-51516036-G-A OR4C46 c.755G>A p.Cys252Tyr Missense 1/1 -
16-1537455-T-C PTX4 c.643A>G p.Arg215Gly Missense 2/3 -
19-39876646-A-G PAF1 c.1581T>C p.Asp527Asp Synonymous 14/14 -
5-176759170-C-A LMAN2 c.988G>T p.Ala330Ser Missense 8/8 -
3-105264176-G-T ALCAM c.1101G>T p.Met367Ile Missense 9/16 -
X-49957346-G-C AKAP4 c.2018C>G p.Ala673Gly Missense 5/6 -
22-44063042-C-T EFCAB6 c.1925G>A p.Arg642Gln Missense 17/32 -
21-43531264-C-A UMODL1 c.1899+33C>A - IntronicSNV - 11/22
10-88635779-C-A BMPR1A c.4C>A p.Pro2Thr Missense 3/13 -
5-96506959-T-C RIOK2 c.730A>G p.Met244Val Missense 6/10 -
6-37614063-C-G MDGA1 c.2135G>C p.Arg712Pro Missense 11/17 -
5-154395470-A-G KIF4B c.2051A>G p.Tyr684Cys Missense 1/1 -
1-94486794-A-T ABCA4 c.5018+2T>A - IntronicSNV - 35/49
17-57775279-C-T PTRH2 c.61G>A p.Val21Ile Missense 2/2 -
14-70924566-C-T ADAM21 c.350C>T p.Ala117Val Missense 2/2 -
1-94486794-A-G ABCA4 c.5018+2T>C - IntronicSNV - 35/49
11-7847129-G-C OR5P3 c.391C>G p.Leu131Val Missense 1/1 -
8-59571856-A-C NSMAF c.59+276T>G - IntronicSNV - 1/30
1-169510348-T-C F5 c.3980A>G p.His1327Arg Missense 13/25 -
13-60566644-T-C DIAPH3 c.1088A>G p.Asn363Ser Missense 10/28 -
9-21207005-C-G IFNA10 c.92G>C p.Ser31Thr Missense 1/1 -
8-145154676-C-T SHARPIN c.589G>A p.Val197Ile Missense 4/9 -
6-149068627-A-G UST c.61A>G p.Met21Val Missense 1/8 -
10-46999289-C-T GPRIN2 c.409C>T p.Arg137Trp Missense 3/3 -
1-60104049-T-G FGGY c.1221+2T>G - IntronicSNV - 11/16
16-89348038-G-C ANKRD11 c.4912C>G p.Pro1638Ala Missense 9/13 -
16-89348038-G-A ANKRD11 c.4912C>T p.Pro1638Ser Missense 9/13 -
19-374338-A-C THEG c.392T>G p.Leu131Arg Missense 2/8 -
11-556531-C-G LMNTD2 c.1034G>C p.Cys345Ser Missense 9/14 -
17-7637938-A-G DNAH2 c.890A>G p.Lys297Arg Missense 7/86 -
12-42499811-G-A GXYLT1 c.673C>T p.Pro225Ser Missense 5/8 -
6-143784092-A-G PEX3 c.245A>G p.Gln82Arg Missense 3/12 -
3-39228676-T-G XIRP1 c.2261A>C p.Gln754Pro Missense 2/2 -
20-58455447-A-T SYCP2 c.2852T>A p.Ile951Asn Missense 31/45 -
14-105416959-A-G AHNAK2 c.4829T>C p.Val1610Ala Missense 7/7 -
19-23557502-G-A ZNF91 c.95C>T p.Thr32Ile Missense 2/4 -
7-150325454-T-C GIMAP6 c.232A>G p.Thr78Ala Missense 3/3 -
X-8138165-C-T VCX2 c.328G>A p.Val110Met Missense 3/3 -
X-70466490-G-C ZMYM3 c.2367C>G p.Asn789Lys Missense 14/25 -
5-140869229-G-A PCDHGC3 c.2431-5145G>A - IntronicSNV - 1/3
20-44640275-G-A MMP9 c.886G>A p.Gly296Ser Missense 6/13 -
16-27761090-G-A KIAA0556 c.2809G>A p.Asp937Asn Missense 16/28 -
3-15614707-C-T HACL1 c.952G>A p.Ala318Thr Missense 11/17 -
17-28548810-C-G SLC6A4 c.167G>C p.Gly56Ala Missense 3/15 -
16-27761090-G-T KIAA0556 c.2809G>T p.Asp937Tyr Missense 16/28 -
14-24799164-G-T ADCY4 c.1119C>A p.Ser373Arg Missense 8/25 -
22-37964429-T-C CDC42EP1 c.778T>C p.Ser260Pro Missense 3/3 -
11-7847129-G-A OR5P3 c.391C>T p.Leu131Phe Missense 1/1 -
1-156206158-C-T PMF1-BGLAP c.387C>T p.Gly129Gly Synonymous 4/7 -
10-97192285-C-G SORBS1 c.221G>C p.Arg74Pro Missense 4/31 -
10-97192285-C-T SORBS1 c.221G>A p.Arg74Gln Missense 4/31 -
7-102246311-T-C RASA4 c.422A>G p.Glu141Gly Missense 5/21 -
8-17815082-T-C PCM1 c.1838T>C p.Ile613Thr Missense 13/39 -
15-102264476-C-A TARSL2 c.115G>T p.Ala39Ser Missense 1/19 -
15-102264476-C-T TARSL2 c.115G>A p.Ala39Thr Missense 1/19 -
14-24799164-G-A ADCY4 c.1119C>T p.Ser373Ser Synonymous 8/25 -
7-105658381-C-T CDHR3 c.1516C>T p.Leu506Phe Missense 12/19 -
1-145293425-C-A NBPF10 c.20C>A p.Pro7His Missense 1/86 -
3-195517183-G-A MUC4 c.1268C>T p.Ser423Phe Missense 2/25 -
8-110510964-A-C PKHD1L1 c.10792A>C p.Ser3598Arg Missense 67/78 -