| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 10-89690841-G-A | PTEN | c.248G>A | p.Cys83Tyr | Missense | 4/9 | - |
| 16-89985669-G-A | MC1R | c.3G>A | p.Met1Ile | Missense | 1/1 | - |
| 2-204732724-G-T | CTLA4 | c.59G>T | p.Trp20Leu | Missense | 1/4 | - |
| 3-178928276-G-A | PIK3CA | c.1462G>A | p.Asp488Asn | Missense | 9/21 | - |
| 13-48934182-G-T | RB1 | c.637G>T | p.Val213Leu | Missense | 7/27 | - |
| 13-48953759-C-T | RB1 | c.1362C>T | p.Tyr454Tyr | Synonymous | 14/27 | - |
| 12-58145290-C-T | CDK4 | c.211G>A | p.Val71Ile | Missense | 2/8 | - |
| 10-89711904-T-C | PTEN | c.522T>C | p.Tyr174Tyr | Synonymous | 6/9 | - |
| 16-89985918-C-T | MC1R | c.252C>T | p.Asp84Asp | Synonymous | 1/1 | - |
| 16-89985918-C-G | MC1R | c.252C>G | p.Asp84Glu | Missense | 1/1 | - |
| 3-178917579-G-A | PIK3CA | c.454G>A | p.Asp152Asn | Missense | 3/21 | - |
| 4-55573379-G-A | KIT | c.1041G>A | p.Gln347Gln | Synonymous | 6/21 | - |
| 3-178951932-A-G | PIK3CA | c.2987A>G | p.Asn996Ser | Missense | 21/21 | - |
| 4-55593651-C-T | KIT | c.1717C>T | p.Pro573Ser | Missense | 11/21 | - |
| 3-178943815-G-A | PIK3CA | c.2482G>A | p.Gly828Ser | Missense | 17/21 | - |
| 13-48916798-C-T | RB1 | c.328C>T | p.Leu110Leu | Synonymous | 3/27 | - |
| 7-140500272-A-T | BRAF | c.870T>A | p.Phe290Leu | Missense | 7/18 | - |
| 16-89986131-C-T | MC1R | c.465C>T | p.Ile155Ile | Synonymous | 1/1 | - |
| 16-89985980-C-T | MC1R | c.314C>T | p.Ala105Val | Missense | 1/1 | - |
| 13-49050909-G-A | RB1 | c.2593G>A | p.Gly865Arg | Missense | 25/27 | - |
| 13-49050909-G-C | RB1 | c.2593G>C | p.Gly865Arg | Missense | 25/27 | - |
| 3-69988274-A-T | MITF | c.608A>T | p.Asn203Ile | Missense | 4/10 | - |
| 4-55564728-C-A | KIT | c.616C>A | p.Pro206Thr | Missense | 3/21 | - |
| 7-140549918-T-C | BRAF | c.233A>G | p.Tyr78Cys | Missense | 2/18 | - |
| 16-89986260-T-C | MC1R | c.594T>C | p.Ala198Ala | Synonymous | 1/1 | - |
| 4-55597561-G-A | KIT | c.2209G>A | p.Asp737Asn | Missense | 15/21 | - |
| 4-55573361-C-A | KIT | c.1023C>A | p.Pro341Pro | Synonymous | 6/21 | - |
| 2-204737476-C-T | CTLA4 | c.613C>T | p.Pro205Ser | Missense | 4/4 | - |
| 3-69928361-C-A | MITF | c.181C>A | p.Gln61Lys | Missense | 2/10 | - |
| 16-89985844-G-T | MC1R | c.178G>T | p.Val60Leu | Missense | 1/1 | - |
| 3-178947118-C-T | PIK3CA | c.2554C>T | p.Arg852* | Nonsense | 18/21 | - |
| 10-89692988-G-A | PTEN | c.472G>A | p.Val158Ile | Missense | 5/9 | - |
| 12-58144748-G-A | CDK4 | c.480C>T | p.Gly160Gly | Synonymous | 4/8 | - |
| 13-48919330-G-A | RB1 | c.495G>A | p.Leu165Leu | Synonymous | 4/27 | - |
| 7-140624391-G-T | BRAF | c.113C>A | p.Ala38Asp | Missense | 1/18 | - |
| 7-140476858-G-A | BRAF | c.1548C>T | p.Phe516Phe | Synonymous | 13/18 | - |
| 7-140453096-C-T | BRAF | c.1839G>A | p.Leu613Leu | Synonymous | 15/18 | - |
| 10-89725066-C-T | PTEN | c.1049C>T | p.Thr350Ile | Missense | 9/9 | - |
| 13-49030440-C-T | RB1 | c.1915C>T | p.Gln639* | Nonsense | 19/27 | - |
| 4-55592168-G-A | KIT | c.1492G>A | p.Gly498Ser | Missense | 9/21 | - |
| 16-89986270-C-T | MC1R | c.604C>T | p.Leu202Phe | Missense | 1/1 | - |
| 3-178938842-G-A | PIK3CA | c.2084G>A | p.Cys695Tyr | Missense | 14/21 | - |
| 7-140494208-C-T | BRAF | c.1040G>A | p.Arg347Gln | Missense | 8/18 | - |
| 13-48955551-G-T | RB1 | c.1667G>T | p.Arg556Leu | Missense | 17/27 | - |
| 4-55602673-C-T | KIT | c.2494C>T | p.Pro832Ser | Missense | 18/21 | - |
| 16-89986089-C-T | MC1R | c.423C>T | p.Asp141Asp | Synonymous | 1/1 | - |
| 16-89985793-G-A | MC1R | c.127G>A | p.Gly43Arg | Missense | 1/1 | - |
| 3-178947170-C-T | PIK3CA | c.2606C>T | p.Ala869Val | Missense | 18/21 | - |
| 10-89692998-G-A | PTEN | c.482G>A | p.Arg161Lys | Missense | 5/9 | - |
| 13-49051522-C-A | RB1 | c.2695C>A | p.Gln899Lys | Missense | 26/27 | - |
| 16-89985858-C-T | MC1R | c.192C>T | p.Ala64Ala | Synonymous | 1/1 | - |
| 10-131565170-A-G | MGMT | c.533A>G | - | missense_variant | 5/5 | - |
| 7-140494225-TG-AT | BRAF | c.1022_1023delCAinsAT | p.Pro341His | Missense | 8/18 | - |
| 13-48954333-C-T | RB1 | c.1454C>T | p.Ser485Phe | Missense | 16/27 | - |
| 3-178938812-G-A | PIK3CA | c.2054G>A | p.Gly685Asp | Missense | 14/21 | - |
| 7-140453114-G-A | BRAF | c.1821C>T | p.Ser607Ser | Synonymous | 15/18 | - |
| 7-140500272-A-C | BRAF | c.870T>G | p.Phe290Leu | Missense | 7/18 | - |
| 4-55573403-C-T | KIT | c.1065C>T | p.Phe355Phe | Synonymous | 6/21 | - |
| 13-48947566-T-C | RB1 | c.1153T>C | p.Leu385Leu | Synonymous | 12/27 | - |
| 7-140494136-A-G | BRAF | c.1112T>C | p.Ile371Thr | Missense | 8/18 | - |
| 16-89985918-C-A | MC1R | c.252C>A | p.Asp84Glu | Missense | 1/1 | - |
| 7-140500184-C-T | BRAF | c.958G>A | p.Ala320Thr | Missense | 7/18 | - |
| 13-48881447-T-A | RB1 | c.169T>A | p.Phe57Ile | Missense | 2/27 | - |
| 10-89711895-G-A | PTEN | c.513G>A | p.Gln171Gln | Synonymous | 6/9 | - |
| 7-140500274-A-G | BRAF | c.868T>C | p.Phe290Leu | Missense | 7/18 | - |
| 7-140453079-C-A | BRAF | c.1856G>T | p.Trp619Leu | Missense | 15/18 | - |
| 4-55598158-C-T | KIT | c.2355C>T | p.Ser785Ser | Synonymous | 16/21 | - |
| 13-48953786-A-G | RB1 | c.1389A>G | p.Ser463Ser | Synonymous | 14/27 | - |
| 13-48878063-C-T | RB1 | c.15C>T | p.Thr5Thr | Synonymous | 1/27 | - |
| 7-140454015-TG-TT | BRAF | c.1712_1713delCAinsTT | p.Ser571Phe | Missense | 14/18 | - |
| 13-48881495-A-G | RB1 | c.217A>G | p.Arg73Gly | Missense | 2/27 | - |
| 4-55593459-T-G | KIT | c.1616T>G | p.Ile539Ser | Missense | 10/21 | - |
| 4-55564641-C-T | KIT | c.529C>T | p.Arg177Cys | Missense | 3/21 | - |
| 4-55592167-G-A | KIT | c.1491G>A | p.Val497Val | Synonymous | 9/21 | - |
| 3-178928287-G-A | PIK3CA | c.1473G>A | p.Val491Val | Synonymous | 9/21 | - |
| 4-55561935-GTG-ATC | KIT | c.325_327delGTGinsATC | p.Val109Ile | Missense | 2/21 | - |
| 12-58144734-T-C | CDK4 | c.494A>G | p.Tyr165Cys | Missense | 4/8 | - |
| 13-49054185-C-A | RB1 | c.2765C>A | p.Thr922Asn | Missense | 27/27 | - |
| 10-89711997-G-C | PTEN | c.615G>C | p.Met205Ile | Missense | 6/9 | - |
| 13-48916771-A-G | RB1 | c.301A>G | p.Ile101Val | Missense | 3/27 | - |
| 10-131565106-A-T | MGMT | c.562A>T | p.Asn188Tyr | Missense | 5/5 | - |
| 4-55602765-G-C | KIT | c.2586G>C | p.Leu862Leu | Synonymous | 18/21 | - |
| 10-89711997-G-A | PTEN | c.615G>A | p.Met205Ile | Missense | 6/9 | - |
| 13-49054177-C-T | RB1 | c.2757C>T | p.Ser919Ser | Synonymous | 27/27 | - |
| 4-55594010-C-A | KIT | c.1796C>A | p.Ala599Asp | Missense | 12/21 | - |
| 3-69990455-G-C | MITF | c.735G>C | p.Met245Ile | Missense | 5/10 | - |
| 16-89985963-C-T | MC1R | c.297C>T | p.Leu99Leu | Synonymous | 1/1 | - |
| 4-55602689-C-T | KIT | c.2510C>T | p.Ala837Val | Missense | 18/21 | - |
| 7-140494205-G-A | BRAF | c.1043C>T | p.Pro348Leu | Missense | 8/18 | - |
| 16-89985715-A-G | MC1R | c.49A>G | p.Thr17Ala | Missense | 1/1 | - |
| 4-55593464-A-T | KIT | c.1621A>T | p.Met541Leu | Missense | 10/21 | - |
| 4-55561850-T-A | KIT | c.240T>A | p.Asn80Lys | Missense | 2/21 | - |
| 4-55561850-T-G | KIT | c.240T>G | p.Asn80Lys | Missense | 2/21 | - |
| 3-178928045-G-T | PIK3CA | c.1323G>T | p.Met441Ile | Missense | 8/21 | - |
| 4-55598078-G-A | KIT | c.2275G>A | p.Asp759Asn | Missense | 16/21 | - |
| 16-89986224-G-A | MC1R | c.558G>A | p.Val186Val | Synonymous | 1/1 | - |
| 4-55592148-G-A | KIT | c.1472G>A | p.Cys491Tyr | Missense | 9/21 | - |
| 16-89985870-C-A | MC1R | c.204C>A | p.Asn68Lys | Missense | 1/1 | - |
| 16-89985870-C-G | MC1R | c.204C>G | p.Asn68Lys | Missense | 1/1 | - |
| 3-178938846-G-A | PIK3CA | c.2088G>A | p.Gly696Gly | Synonymous | 14/21 | - |
| 3-178952017-G-A | PIK3CA | c.3072G>A | p.Lys1024Lys | Synonymous | 21/21 | - |
| 3-178928045-G-A | PIK3CA | c.1323G>A | p.Met441Ile | Missense | 8/21 | - |
| 3-178928045-G-C | PIK3CA | c.1323G>C | p.Met441Ile | Missense | 8/21 | - |
| 3-178927429-C-A | PIK3CA | c.1192C>A | p.Arg398Ser | Missense | 7/21 | - |
| 3-69928362-A-G | MITF | c.182A>G | p.Gln61Arg | Missense | 2/10 | - |
| 13-49030454-A-G | RB1 | c.1929A>G | p.Lys643Lys | Synonymous | 19/27 | - |
| 16-89986251-C-G | MC1R | c.585C>G | p.Phe195Leu | Missense | 1/1 | - |
| 3-69928362-A-T | MITF | c.182A>T | p.Gln61Leu | Missense | 2/10 | - |
| 3-178948083-T-G | PIK3CA | c.2855T>G | p.Val952Gly | Missense | 20/21 | - |
| 3-178916623-C-T | PIK3CA | c.10C>T | p.Arg4* | Nonsense | 2/21 | - |
| 4-55599268-C-T | KIT | c.2394C>T | p.Ile798Ile | Synonymous | 17/21 | - |
| 13-49030408-C-G | RB1 | c.1883C>G | p.Ala628Gly | Missense | 19/27 | - |
| 10-131557469-C-T | MGMT | c.371C>T | p.Ser124Leu | Missense | 4/5 | - |
| 10-89725116-C-T | PTEN | c.1099C>T | p.Pro367Ser | Missense | 9/9 | - |
| 3-70014253-T-G | MITF | c.1417T>G | p.Ser473Ala | Missense | 10/10 | - |
| 13-49050866-G-A | RB1 | c.2550G>A | p.Gln850Gln | Synonymous | 25/27 | - |
| 7-140534584-G-A | BRAF | c.329C>T | p.Ser110Phe | Missense | 3/18 | - |
| 13-49039177-T-C | RB1 | c.2255T>C | p.Ile752Thr | Missense | 22/27 | - |
| 4-55598096-G-A | KIT | c.2293G>A | p.Asp765Asn | Missense | 16/21 | - |
| 10-89720832-C-A | PTEN | c.983C>A | p.Ala328Glu | Missense | 8/9 | - |
| 4-55599276-C-T | KIT | c.2402C>T | p.Thr801Ile | Missense | 17/21 | - |
| 16-89986000-G-A | MC1R | c.334G>A | p.Val112Met | Missense | 1/1 | - |
| 16-89985940-G-A | MC1R | c.274G>A | p.Val92Met | Missense | 1/1 | - |
| 12-58145081-T-G | CDK4 | c.263A>C | p.Lys88Thr | Missense | 3/8 | - |
| 7-140477796-T-C | BRAF | c.1512A>G | p.Val504Val | Synonymous | 12/18 | - |
| 10-131506286-C-T | MGMT | c.346C>T | p.His116Tyr | Missense | 3/5 | - |
| 7-140549916-G-A | BRAF | c.235C>T | p.Leu79Leu | Synonymous | 2/18 | - |
| 7-140434438-G-A | BRAF | c.2260C>T | p.Pro754Ser | Missense | 18/18 | - |
| 16-89986482-G-A | MC1R | c.816G>A | p.Thr272Thr | Synonymous | 1/1 | - |
| 7-140482876-G-A | BRAF | c.1259C>T | p.Pro420Leu | Missense | 10/18 | - |
| 3-178927410-A-G | PIK3CA | c.1173A>G | p.Ile391Met | Missense | 7/21 | - |
| 7-140494213-G-T | BRAF | c.1035C>A | p.Pro345Pro | Synonymous | 8/18 | - |
| 13-48942674-A-G | RB1 | c.1061A>G | p.Gln354Arg | Missense | 11/27 | - |
| 10-131506283-C-T | MGMT | c.343C>T | p.Leu115Phe | Missense | 3/5 | - |
| 13-49039146-GTT-ATG | RB1 | c.2224_2226delGTTinsATG | p.Val742Met | Missense | 22/27 | - |
| 13-48941632-T-C | RB1 | c.942T>C | p.Val314Val | Synonymous | 10/27 | - |
| 4-55575646-C-T | KIT | c.1172C>T | p.Thr391Ile | Missense | 7/21 | - |
| 3-178937483-C-T | PIK3CA | c.1871C>T | p.Thr624Ile | Missense | 12/21 | - |
| 10-89653803-C-T | PTEN | c.101C>T | p.Ala34Val | Missense | 2/9 | - |
| 10-89720795-C-T | PTEN | c.946C>T | p.Leu316Leu | Synonymous | 8/9 | - |
| 12-58145457-C-T | CDK4 | c.44G>A | p.Gly15Asp | Missense | 2/8 | - |
| 7-140534660-A-T | BRAF | c.253T>A | p.Tyr85Asn | Missense | 3/18 | - |
| 16-89986251-C-A | MC1R | c.585C>A | p.Phe195Leu | Missense | 1/1 | - |
| 16-89985849-C-A | MC1R | c.183C>A | p.Ala61Ala | Synonymous | 1/1 | - |
| 10-89720772-G-A | PTEN | c.923G>A | p.Arg308His | Missense | 8/9 | - |
| 13-48953761-G-A | RB1 | c.1364G>A | p.Arg455Gln | Missense | 14/27 | - |
| 10-89725048-A-G | PTEN | c.1031A>G | p.Lys344Arg | Missense | 9/9 | - |
| 7-140534659-T-C | BRAF | c.254A>G | p.Tyr85Cys | Missense | 3/18 | - |
| 3-70014240-C-A | MITF | c.1404C>A | p.Pro468Pro | Synonymous | 10/10 | - |
| 16-89986147-G-A | MC1R | c.481G>A | p.Ala161Thr | Missense | 1/1 | - |
| 3-178928318-C-A | PIK3CA | c.1504C>A | p.Arg502Arg | Synonymous | 9/21 | - |
| 12-58144530-G-T | CDK4 | c.541C>A | p.Arg181Arg | Synonymous | 5/8 | - |
| 4-55599277-T-C | KIT | c.2403T>C | p.Thr801Thr | Synonymous | 17/21 | - |
| 3-70001019-A-G | MITF | c.919A>G | p.Lys307Glu | Missense | 7/10 | - |
| 7-140494223-A-G | BRAF | c.1025T>C | p.Ile342Thr | Missense | 8/18 | - |
| 10-89711898-G-A | PTEN | c.516G>A | p.Arg172Arg | Synonymous | 6/9 | - |
| 3-178927993-G-A | PIK3CA | c.1271G>A | p.Trp424* | Nonsense | 8/21 | - |
| 4-55598045-A-T | KIT | c.2242A>T | p.Ile748Leu | Missense | 16/21 | - |
| 4-55598045-A-C | KIT | c.2242A>C | p.Ile748Leu | Missense | 16/21 | - |
| 13-48951093-G-A | RB1 | c.1255G>A | p.Val419Met | Missense | 13/27 | - |
| 16-89986608-A-G | MC1R | c.942A>G | p.Thr314Thr | Synonymous | 1/1 | - |
| 13-49033825-G-A | RB1 | c.1962G>A | p.Val654Val | Synonymous | 20/27 | - |
| 16-89986134-G-T | MC1R | c.468G>T | p.Val156Val | Synonymous | 1/1 | - |
| 7-140534456-G-C | BRAF | c.457C>G | p.Gln153Glu | Missense | 3/18 | - |
| 3-69990455-G-A | MITF | c.735G>A | p.Met245Ile | Missense | 5/10 | - |
| 3-69990455-G-T | MITF | c.735G>T | p.Met245Ile | Missense | 5/10 | - |
| 16-89986154-G-A | MC1R | c.488G>A | p.Arg163Gln | Missense | 1/1 | - |
| 7-140500199-C-A | BRAF | c.943G>T | p.Gly315* | Nonsense | 7/18 | - |
| 13-48916739-G-A | RB1 | c.269G>A | p.Gly90Asp | Missense | 3/27 | - |
| 4-55593463-G-A | KIT | c.1620G>A | p.Val540Val | Synonymous | 10/21 | - |
| 10-89720738-G-A | PTEN | c.889G>A | p.Asp297Asn | Missense | 8/9 | - |
| 16-89986249-T-C | MC1R | c.583T>C | p.Phe195Leu | Missense | 1/1 | - |
| 13-49030459-C-T | RB1 | c.1934C>T | p.Thr645Ile | Missense | 19/27 | - |
| 3-178921458-G-A | PIK3CA | c.940G>A | p.Ala314Thr | Missense | 5/21 | - |
| 10-89624231-C-T | PTEN | c.5C>T | p.Thr2Ile | Missense | 1/9 | - |
| 1-115252227-C-T | NRAS | c.413G>A | p.Gly138Glu | Missense | 4/7 | - |
| 4-55594251-A-G | KIT | c.1954A>G | p.Asn652Asp | Missense | 13/21 | - |
| 13-49039169-T-C | RB1 | c.2247T>C | p.Tyr749Tyr | Synonymous | 22/27 | - |
| 4-55565807-G-A | KIT | c.631G>A | p.Val211Met | Missense | 4/21 | - |
| 13-49033963-G-A | RB1 | c.2100G>A | p.Leu700Leu | Synonymous | 20/27 | - |
| 3-178916890-C-T | PIK3CA | c.277C>T | p.Arg93Trp | Missense | 2/21 | - |
| 12-58144450-C-T | CDK4 | c.621G>A | p.Met207Ile | Missense | 5/8 | - |
| 3-70014248-T-A | MITF | c.1412T>A | p.Met471Lys | Missense | 10/10 | - |
| 3-178917499-T-C | PIK3CA | c.374T>C | p.Val125Ala | Missense | 3/21 | - |
| 13-48934182-G-C | RB1 | c.637G>C | p.Val213Leu | Missense | 7/27 | - |
| 7-140476799-C-T | BRAF | c.1607G>A | p.Ser536Asn | Missense | 13/18 | - |
| 13-48953760-C-T | RB1 | c.1363C>T | p.Arg455* | Nonsense | 14/27 | - |
| 16-89986467-C-T | MC1R | c.801C>T | p.Cys267Cys | Synonymous | 1/1 | - |
| 4-55603434-G-A | KIT | c.2790G>A | p.Glu930Glu | Synonymous | 20/21 | - |
| 7-140434441-T-A | BRAF | c.2257A>T | p.Thr753Ser | Missense | 18/18 | - |
| 12-58145013-C-G | CDK4 | c.331G>C | p.Gly111Arg | Missense | 3/8 | - |
| 16-89985701-G-A | MC1R | c.35G>A | p.Gly12Asp | Missense | 1/1 | - |
| 10-89725081-C-T | PTEN | c.1064C>T | p.Ser355Leu | Missense | 9/9 | - |
| 13-48923116-A-G | RB1 | c.564A>G | p.Ala188Ala | Synonymous | 6/27 | - |
| 12-58142338-A-G | CDK4 | c.882T>C | p.Tyr294Tyr | Synonymous | 8/8 | - |
| 10-89624237-T-C | PTEN | c.11T>C | p.Ile4Thr | Missense | 1/9 | - |
| 16-89986325-GC-AG | MC1R | c.659_660delGCinsAG | p.Gly220Glu | Missense | 1/1 | - |
| 10-89690843-A-T | PTEN | c.250A>T | p.Arg84* | Nonsense | 4/9 | - |
| 3-178942516-G-A | PIK3CA | c.2323G>A | p.Ala775Thr | Missense | 16/21 | - |
| 10-131565064-A-G | MGMT | c.520A>G | p.Ile174Val | Missense | 5/5 | - |
| 3-178928258-A-G | PIK3CA | c.1444A>G | p.Ser482Gly | Missense | 9/21 | - |
| 13-48878128-C-T | RB1 | c.80C>T | p.Pro27Leu | Missense | 1/27 | - |
| 13-49054199-G-A | RB1 | c.2779G>A | p.Glu927Lys | Missense | 27/27 | - |
| 7-140534627-C-T | BRAF | c.286G>A | p.Glu96Lys | Missense | 3/18 | - |
| 13-48941719-T-A | RB1 | c.1029T>A | p.Leu343Leu | Synonymous | 10/27 | - |
| 7-140449093-C-T | BRAF | c.1986G>A | p.Arg662Arg | Synonymous | 16/18 | - |
| 7-140494122-G-A | BRAF | c.1126C>T | p.Pro376Ser | Missense | 8/18 | - |
| 13-48919324-C-T | RB1 | c.489C>T | p.Ser163Ser | Synonymous | 4/27 | - |
| 3-69987019-C-A | MITF | c.401C>A | p.Ala134Asp | Missense | 3/10 | - |
| 10-89711997-G-T | PTEN | c.615G>T | p.Met205Ile | Missense | 6/9 | - |
| 16-89986153-C-T | MC1R | c.487C>T | p.Arg163* | Nonsense | 1/1 | - |