Gene name Accession Number HGNC ID Sample name ID_sample ID_tumour Primary site Site subtype Primary histology Histology subtype Genome-wide screen Mutation ID Mutation CDS Mutation AA Mutation Description Mutation zygosity Mutation NCBI36 genome position Mutation NCBI36 strand Mutation GRCh37 genome position Mutation GRCh37 strand Mutation somatic status Pubmed_PMID Sample source Tumour origin Comments ABCC3 NM_003786.2 54 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 110387 c.1005G>A p.L335L Substitution - coding silent het 17:48741048-48741048 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) AMIGO2 ENST00000266581 24073 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 109891 c.1061G>T p.R354L Substitution - Missense het 12:47471725-47471725 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) BRAF NM_004333 1097 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 476 c.1799T>A p.V600E Substitution - Missense het 7:140099605-140099605 - 7:140453136-140453136 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) C12orf50 ENST00000298699 26665 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 107269 c.1066A>G p.T356A Substitution - Missense het 12:88379687-88379687 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) COCH NM_004086.1 2180 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 110299 c.555G>A p.K185K Substitution - coding silent het 14:31349866-31349866 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) COG3 ENST00000349995 18619 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 110350 c.1488+1G>T p.? Unknown het 13:46070448-46070448 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) CPAMD8 ENST00000291440 23228 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 107285 c.4420G>C p.A1474P Substitution - Missense het 19:17014640-17014640 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) CSH1 ENST00000316193 2440 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 106968 c.494T>G p.L165R Substitution - Missense het 17:61972542-61972542 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) CSMD3 NM_198123.1 19291 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 109121 c.61A>T p.K21* Substitution - Nonsense het 8:114449023-114449023 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) CYP19A1 ENST00000396402 2594 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 107954 c.54T>A p.P18P Substitution - coding silent het 15:51535056-51535056 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) FAM171A1 ENST00000378116 23522 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 109766 c.1276A>C p.S426R Substitution - Missense het 10:15256311-15256311 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) FAM171A1_ENST00000378116 ENST00000378116 23522 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 109765 c.1276A>C p.S426R Substitution - Missense het 10:15256311-15256311 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) FAM71F1 ENST00000315184 30704 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 110225 c.896A>G p.D299G Substitution - Missense het 7:128369998-128369998 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) FAT4 ENST00000330166 23109 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 107207 c.10626T>C p.G3542G Substitution - coding silent het 4:126372797-126372797 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) FRY ENST00000380250 20367 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 107325 c.2412T>G p.V804V Substitution - coding silent het 13:32749760-32749760 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) GRIN1 NM_007327.1 4584 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 110391 c.2080C>T p.R694W Substitution - Missense het 9:140057364-140057364 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) HRNR ENST00000368801 20846 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 109056 c.1113C>T p.S371S Substitution - coding silent het 1:152192992-152192992 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) KIRREL2 ENST00000262625 18816 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 110671 c.463_464insA p.T155fs*3 Insertion - Frameshift unk 19:36349707-36349708 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) LPGAT1 ENST00000366996 28985 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 110489 c.877C>A p.P293T Substitution - Missense het 1:211924387-211924387 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) LRBA ENST00000357115 1742 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 108122 c.1030T>G p.F344V Substitution - Missense het 4:151835478-151835478 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) LRRTM3 ENST00000373722 19410 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 110100 c.1582C>A p.P528T Substitution - Missense het 10:68857390-68857390 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) MASP2 ENST00000234505 6902 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 107607 c.1645A>T p.T549S Substitution - Missense het 1:11087358-11087358 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) MEMO1 ENST00000295065 14014 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 108550 c.560C>T p.S187F Substitution - Missense het 2:32117081-32117081 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) OR4C6 ENST00000314259 14743 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 108393 c.624C>G p.I208M Substitution - Missense het 11:55433266-55433266 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) OSTN ENST00000339051 29961 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 107642 c.269C>T p.P90L Substitution - Missense het 3:190936702-190936702 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) PAGE1 NM_003785.3 4107 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 107417 c.322C>G p.Q108E Substitution - Missense het 23:49454117-49454117 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) PCIF1 ENST00000372409 16200 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 107229 c.1693G>T p.V565F Substitution - Missense het 20:44575791-44575791 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) PDP1 NM_018444.2 9279 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 110216 c.421G>A p.G141R Substitution - Missense het 8:94934708-94934708 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) PHKA1 NM_002637.1 8925 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 109275 c.388T>G p.W130G Substitution - Missense het 23:71915624-71915624 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) PKD2 ENST00000237596 9009 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 108334 c.604G>A p.G202R Substitution - Missense het 4:88940618-88940618 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) PLXNA1 ENST00000251772 9099 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 108806 c.1680G>A p.V560V Substitution - coding silent het 3:126723938-126723938 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) PPP1R3F XM_372210.1 14944 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 106536 c.2314G>T p.G772W Substitution - Missense het 23:49143466-49143466 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) PREX2 NM_024870.2 22950 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 110566 c.2343G>T p.G781G Substitution - coding silent het 8:69005932-69005932 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) PRICKLE2 ENST00000295902 20340 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 109059 c.1038G>A p.K346K Substitution - coding silent het 3:64133128-64133128 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) PRSS58 ENST00000304182 39125 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 108158 c.185T>C p.L62P Substitution - Missense het 7:141955126-141955126 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) PTPLAD2 ENST00000380233 20920 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 109515 c.235A>C p.I79L Substitution - Missense het 9:21026630-21026630 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) PTPN11 NM_002834.3 9644 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 110462 c.1296T>G p.P432P Substitution - coding silent het 12:112924350-112924350 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) PTPRN2 NM_002847.2 9677 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 109159 c.1063G>A p.A355T Substitution - Missense het 7:157931055-157931055 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) PTPRN2 NM_002847.2 9677 35T 1612189 1531417 skin foot malignant_melanoma NS n 109159 c.1063G>A p.A355T Substitution - Missense het 7:157931055-157931055 - Confirmed somatic variant 19074898 short-term culture metastasis RBKS ENST00000302188 30325 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 108411 c.160A>G p.K54E Substitution - Missense het 2:28081368-28081368 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) SCGB1C1 ENST00000342878 18394 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 109592 c.218T>C p.L73P Substitution - Missense het 11:193874-193874 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) SCN1A ENST00000375405 10585 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 108316 c.3072A>T p.Q1024H Substitution - Missense het 2:166892882-166892882 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) SSSCA1 ENST00000309328 11328 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 107676 c.424G>T p.A142S Substitution - Missense het 11:65339029-65339029 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) STC2 ENST00000265087 11374 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 110567 c.831G>A p.G277G Substitution - coding silent het 5:172744928-172744928 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) TAAR5 ENST00000258034 30236 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 106582 c.850C>A p.P284T Substitution - Missense het 6:132909976-132909976 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) VDR NM_000376.1 12679 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 107189 c.1058A>T p.E353V Substitution - Missense het 12:48238755-48238755 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) WBSCR17 ENST00000333538 16347 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 109028 c.1077C>T p.I359I Substitution - coding silent het 7:71036384-71036384 + Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh) ZNF708 ENST00000356929 12945 35T 1551831 1473937 skin foot malignant_melanoma acral_lentiginous y 109485 c.666A>C p.K222N Substitution - Missense het 19:21477102-21477102 - Confirmed somatic variant 21499247 surgery fresh/frozen metastasis Metastatic site:subcutaneous (thigh)