Annotation Summary for Cell Line: COLO-783  

Cell line primary name: COLO-783
Cell line aliases:
Gender: F
Site Primary: skin
Histology: malignant_melanoma
Hist Subtype1: NS
Notes:
Source: DSMZ
Expression arrays: CRAZY_p_NCLE_RNA10_HG-U133_Plus_2_A10_569576
SNP arrays: HONEY_p_NCLE_DNAAffy3_S_GenomeWideSNP_6_D08_293366
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in COLO-783

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ACACA 17 35766564 35766564 COLO783_SKIN 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM10 p.R438K 15 58919946 58919946 COLO783_SKIN 37 Missense_Mutation SNP C T uc002afd.1 ADAM10_uc010bgc... Hybrid_Cap... view
ADAM17 2 9630245 9630245 COLO783_SKIN 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 COLO783_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS20 p.P678L 12 43846123 43846123 COLO783_SKIN 37 Missense_Mutation SNP G A uc010skx.1 Hybrid_Cap... view
AIM1 p.V669fs 6 106968314 106968315 COLO783_SKIN 37 Frame_Shift_Ins Ins - A uc003prh.2 Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 COLO783_SKIN 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.G1030V 7 91632320 91632320 COLO783_SKIN 37 Missense_Mutation SNP G T uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 COLO783_SKIN 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKT2 p.D46N 19 40762872 40762872 COLO783_SKIN 37 Missense_Mutation SNP C T uc002onf.2 AKT2_uc010egs.2... Hybrid_Cap... view
ALPK2 p.EDTST1006del 18 56204388 56204402 COLO783_SKIN 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
APBB1IP p.E223K 10 26800811 26800811 COLO783_SKIN 37 Missense_Mutation SNP G A uc001iss.2 APBB1IP_uc009xk... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 COLO783_SKIN 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ATRX p.L595F X 76938965 76938965 COLO783_SKIN 37 Missense_Mutation SNP G A uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap... view
BCL10 p.P224L 1 85733341 85733341 COLO783_SKIN 37 Missense_Mutation SNP G A uc001dkz.2 Hybrid_Cap... view
BCL3 19 45262965 45262967 COLO783_SKIN 37 3'UTR Del CCC - uc010xxe.1 Hybrid_Cap...
BLK p.W234* 8 11412923 11412923 COLO783_SKIN 37 Nonsense_Mutation SNP G A uc003wty.2 BLK_uc003wtz.2_... Hybrid_Cap... view
BMPR1B 4 96025539 96025539 COLO783_SKIN 37 Intron SNP C T uc003htm.3 BMPR1B_uc010ilb... Hybrid_Cap... view
BRAF p.V600E 7 140453136 140453136 COLO783_SKIN 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
CACNB2 10 18828721 18828722 COLO783_SKIN 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK2B p.P234L 7 44281935 44281935 COLO783_SKIN 37 Missense_Mutation SNP G A uc003tkq.2 CAMK2B_uc003tkp... Hybrid_Cap... view
CARD11 p.G526R 7 2969703 2969703 COLO783_SKIN 37 Missense_Mutation SNP C T uc003smv.2 Hybrid_Cap... view
CARD11 p.M8I 7 2987405 2987405 COLO783_SKIN 37 Missense_Mutation SNP C T uc003smv.2 Hybrid_Cap... view
CASK X 41782279 41782279 COLO783_SKIN 37 5'UTR SNP C T uc004dfl.3 CASK_uc004dfm.3... Hybrid_Cap... view
CDK11B 1 1654066 1654068 COLO783_SKIN 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK8 p.R125R 13 26927936 26927936 COLO783_SKIN 37 Silent SNP G A uc001uqr.1 CDK8_uc001uqs.1... Hybrid_Cap... view
CDKN1B p.L13fs 12 12870812 12870816 COLO783_SKIN 37 Frame_Shift_Del Del GGAGC - rs2066828 uc001rat.2 Hybrid_Cap...
CDKN2A 9 21974684 21974684 COLO783_SKIN 37 Intron SNP G A uc003zpl.2 MTAP_uc003zpi.1... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 COLO783_SKIN 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD8 p.T1860I 14 21861316 21861317 COLO783_SKIN 37 Missense_Mutation DNP GG AA uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CHRNA3 p.D130N 15 78894596 78894596 COLO783_SKIN 37 Missense_Mutation SNP C T uc002bec.2 CHRNA3_uc002bea... Hybrid_Cap... view
CIITA p.G240R 16 10996601 10996601 COLO783_SKIN 37 Missense_Mutation SNP G A uc002daj.3 CIITA_uc002dai.... Hybrid_Cap... view
CIT p.P1297S 12 120156618 120156618 COLO783_SKIN 37 Missense_Mutation SNP G A uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 COLO783_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 COLO783_SKIN 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
COPS5 p.G102V 8 67971519 67971519 COLO783_SKIN 37 Missense_Mutation SNP C A uc003xxe.2 COPS5_uc003xxd.... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 COLO783_SKIN 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 COLO783_SKIN 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CTNNB1 p.S45del 3 41266134 41266136 COLO783_SKIN 37 In_Frame_Del Del CTT - uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap...
CXCL12 10 44873992 44873993 COLO783_SKIN 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
CXCR2 2 219000697 219000697 COLO783_SKIN 37 3'UTR SNP T G uc002vgz.1 CXCR2_uc002vha.... Hybrid_Cap... view
DCLK2 p.P342L 4 151124959 151124959 COLO783_SKIN 37 Missense_Mutation SNP C T uc003ilo.3 DCLK2_uc003ilm.... Hybrid_Cap... view
DEK p.M1I 6 18264216 18264216 COLO783_SKIN 37 Missense_Mutation SNP C T uc003ncr.1 DEK_uc011djf.1_... Hybrid_Cap... view
DICER1 p.E1420del 14 95562995 95562997 COLO783_SKIN 37 In_Frame_Del Del TCC - uc001ydw.2 DICER1_uc010avh... Hybrid_Cap...
DNAH8 p.G788W 6 38771066 38771066 COLO783_SKIN 37 Missense_Mutation SNP G T uc003ooe.1 Hybrid_Cap... view
DPYD p.L451F 1 98015287 98015287 COLO783_SKIN 37 Missense_Mutation SNP C A uc001drv.2 Hybrid_Cap... view
ECM1 p.P330P 1 150484127 150484127 COLO783_SKIN 37 Silent SNP T G uc001euu.2 ECM1_uc010pce.1... Hybrid_Cap... view
EIF4E 4 99808137 99808141 COLO783_SKIN 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
ELF4 p.P196L X 129205339 129205340 COLO783_SKIN 37 Missense_Mutation DNP GG TA uc004evd.3 ELF4_uc004eve.3... Hybrid_Cap...
EML4 2 42396710 42396710 COLO783_SKIN 37 5'UTR SNP G T uc002rsi.2 EML4_uc002rsh.3... Hybrid_Cap... view
EPHA1 p.E706K 7 143092243 143092243 COLO783_SKIN 37 Missense_Mutation SNP C T uc003wcz.2 Hybrid_Cap... view
EPHA6 3 97367230 97367231 COLO783_SKIN 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERBB2 p.S72S 17 37863385 37863385 COLO783_SKIN 37 Silent SNP C T uc002hso.2 ERBB2_uc002hsm.... Hybrid_Cap... view
ERCC3 2 128047671 128047675 COLO783_SKIN 37 Intron Del TTCTC - uc002toh.1 ERCC3_uc002toe.... Hybrid_Cap...
ETV1 7 14028708 14028708 COLO783_SKIN 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
F8 p.S693L X 154176008 154176008 COLO783_SKIN 37 Missense_Mutation SNP G A uc004fmt.2 Hybrid_Cap... view
FLI1 11 128638217 128638217 COLO783_SKIN 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNC p.P1102S 7 128484823 128484823 COLO783_SKIN 37 Missense_Mutation SNP C T uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 COLO783_SKIN 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
GNRH1 8 25276932 25276932 COLO783_SKIN 37 3'UTR SNP G A uc003xem.3 PPP2R2A_uc003xe... Hybrid_Cap... view
GPR112 p.D898N X 135428557 135428557 COLO783_SKIN 37 Missense_Mutation SNP G A uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 COLO783_SKIN 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRB2 p.G180V 17 73316564 73316564 COLO783_SKIN 37 Missense_Mutation SNP C A uc002jnx.3 GRB2_uc002jny.3... Hybrid_Cap... view
GRIA3 X 122318386 122318387 COLO783_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIA3 p.R333Q X 122532572 122532572 COLO783_SKIN 37 Missense_Mutation SNP G A uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap... view
GRIN2A p.P314S 16 10031883 10031883 COLO783_SKIN 37 Missense_Mutation SNP G A uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 COLO783_SKIN 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
GUCY2F p.G815E X 108636265 108636265 COLO783_SKIN 37 Missense_Mutation SNP C T uc004eod.3 GUCY2F_uc011msq... Hybrid_Cap... view
GUCY2F p.S141R X 108718743 108718743 COLO783_SKIN 37 Missense_Mutation SNP G C uc004eod.3 GUCY2F_uc011msq... Hybrid_Cap... view
HIF1A 14 62213929 62213930 COLO783_SKIN 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK2 p.T1022N 7 139259935 139259935 COLO783_SKIN 37 Missense_Mutation SNP G T uc003vvf.3 HIPK2_uc003vvd.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 COLO783_SKIN 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 COLO783_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSRR p.G996R 1 156812936 156812936 COLO783_SKIN 37 Missense_Mutation SNP C T uc010pht.1 NTRK1_uc001fqf.... Hybrid_Cap... view
ITGAV p.L200F 2 187498068 187498068 COLO783_SKIN 37 Missense_Mutation SNP C T uc002upq.2 ITGAV_uc010frs.... Hybrid_Cap... view
JAK1 1 65351985 65351985 COLO783_SKIN 37 5'UTR SNP G A uc001dbu.1 JAK1_uc009wam.1... Hybrid_Cap... view
KALRN p.Y1174C 3 124165707 124165707 COLO783_SKIN 37 Missense_Mutation SNP A G uc003ehg.2 KALRN_uc010hrv.... Hybrid_Cap... view
KDM6A X 44970788 44970788 COLO783_SKIN 37 3'UTR SNP G A uc011mkz.1 KDM6A_uc004dge.... Hybrid_Cap... view
KIAA0802 p.P439S 18 8784425 8784425 COLO783_SKIN 37 Missense_Mutation SNP C T uc002knr.2 KIAA0802_uc002k... Hybrid_Cap... view
KIAA1409 p.S707D 14 94046711 94046712 COLO783_SKIN 37 Missense_Mutation DNP AG GA uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap...
LRP1B p.H1296Y 2 141643785 141643785 COLO783_SKIN 37 Missense_Mutation SNP G A uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 COLO783_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 COLO783_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 COLO783_SKIN 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 COLO783_SKIN 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MERTK p.G604E 2 112761505 112761505 COLO783_SKIN 37 Missense_Mutation SNP G A uc002thk.1 MERTK_uc002thl.... Hybrid_Cap... view
MLL3 p.N543D 7 151948046 151948046 COLO783_SKIN 37 Missense_Mutation SNP T C uc003wla.2 Hybrid_Cap... view
MYBL2 20 42334126 42334126 COLO783_SKIN 37 Intron SNP G A rs3117540 uc002xlb.1 MYBL2_uc010zwj.... Hybrid_Cap... view
MYC 8 128753311 128753311 COLO783_SKIN 37 3'UTR SNP C T uc003ysi.2 Hybrid_Cap... view
MYH1 p.A1027D 17 10406086 10406086 COLO783_SKIN 37 Missense_Mutation SNP G T uc002gmo.2 Hybrid_Cap... view
MYH11 16 15808754 15808754 COLO783_SKIN 37 Intron SNP C T uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
MYO3A p.Q1242* 10 26462917 26462917 COLO783_SKIN 37 Nonsense_Mutation SNP C T uc001isn.2 MYO3A_uc009xkp.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 COLO783_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 COLO783_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NFATC1 p.S617F 18 77211763 77211763 COLO783_SKIN 37 Missense_Mutation SNP C T uc010xfg.1 NFATC1_uc002lnc... Hybrid_Cap... view
NFIA 1 61921185 61921186 COLO783_SKIN 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NIPBL p.A342E 5 36976034 36976034 COLO783_SKIN 37 Missense_Mutation SNP C A uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881822 50881823 COLO783_SKIN 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAK1 p.P73L 11 77091012 77091012 COLO783_SKIN 37 Missense_Mutation SNP G A uc001oyg.3 PAK1_uc010rso.1... Hybrid_Cap... view
PAX3 2 223158601 223158601 COLO783_SKIN 37 Intron SNP C T uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap... view
PAX3 2 223158653 223158653 COLO783_SKIN 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAXIP1 7 154735785 154735785 COLO783_SKIN 37 3'UTR SNP C T uc003wlp.2 LOC100132707_uc... Hybrid_Cap... view
PCM1 p.M1612I 8 17863780 17863780 COLO783_SKIN 37 Missense_Mutation SNP G A uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap... view
PDE4DIP p.Q1665fs 1 144873963 144873963 COLO783_SKIN 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 COLO783_SKIN 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA 4 55131002 55131002 COLO783_SKIN 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PGR 11 100933598 100933599 COLO783_SKIN 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 COLO783_SKIN 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
POU2AF1 11 111224977 111224977 COLO783_SKIN 37 3'UTR SNP G A uc001plg.3 Hybrid_Cap... view
PPP3CA p.A31S 4 102117241 102117241 COLO783_SKIN 37 Missense_Mutation SNP C A uc011cen.1 PPP3CA_uc003hvu... Hybrid_Cap... view
PRDM16 p.R950Q 1 3334549 3334549 COLO783_SKIN 37 Missense_Mutation SNP G A uc001akf.2 PRDM16_uc001akc... Hybrid_Cap... view
PRKD2 19 47200497 47200497 COLO783_SKIN 37 Intron SNP G A uc010xye.1 PRKD2_uc002pfe.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 COLO783_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 p.I264V 10 53814271 53814271 COLO783_SKIN 37 Missense_Mutation SNP A G rs56082459 uc001jjo.2 PRKG1_uc001jjm.... Hybrid_Cap... view
PSEN2 p.S419F 1 227083189 227083189 COLO783_SKIN 37 Missense_Mutation SNP C T uc009xeo.1 CABC1_uc001hqm.... Hybrid_Cap... view
RAPGEF2 4 160189200 160189201 COLO783_SKIN 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RASGRF1 15 79277150 79277151 COLO783_SKIN 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RBL1 p.S919F 20 35635929 35635929 COLO783_SKIN 37 Missense_Mutation SNP G A uc002xgi.2 RBL1_uc010zvt.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 COLO783_SKIN 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RIPK4 p.P252L 21 43166850 43166851 COLO783_SKIN 37 Missense_Mutation DNP GG AA uc002yzn.1 Hybrid_Cap...
ROS1 p.P1010T 6 117686313 117686313 COLO783_SKIN 37 Missense_Mutation SNP G T uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 COLO783_SKIN 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 COLO783_SKIN 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SCRIB p.L1083L 8 144885984 144885984 COLO783_SKIN 37 Silent SNP G A uc003yzo.1 SCRIB_uc003yzn.... Hybrid_Cap... view
SGK269 p.S1095L 15 77450892 77450892 COLO783_SKIN 37 Missense_Mutation SNP G A uc002bcm.2 SGK269_uc002bcn... Hybrid_Cap... view
SLC22A15 p.L304L 1 116574168 116574168 COLO783_SKIN 37 Silent SNP C T uc001egb.3 SLC22A15_uc001e... Hybrid_Cap... view
SORL1 11 121500400 121500401 COLO783_SKIN 37 3'UTR Ins - A rs73020651 uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap...
SPTAN1 p.M541V 9 131344806 131344806 COLO783_SKIN 37 Missense_Mutation SNP A G uc004bvm.3 SPTAN1_uc011mbg... Hybrid_Cap... view
TAOK3 p.C257F 12 118650768 118650768 COLO783_SKIN 37 Missense_Mutation SNP C A uc001twx.2 TAOK3_uc001tww.... Hybrid_Cap... view
TEC 4 48139307 48139310 COLO783_SKIN 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 p.G224D 1 218607500 218607500 COLO783_SKIN 37 Missense_Mutation SNP G A uc001hln.2 TGFB2_uc001hlm.... Hybrid_Cap... view
THBS3 1 155171837 155171837 COLO783_SKIN 37 Intron SNP G A uc001fix.2 RAG1AP1_uc010pe... Hybrid_Cap... view
THBS3 p.P282L 1 155172714 155172715 COLO783_SKIN 37 Missense_Mutation DNP GG AA uc001fix.2 RAG1AP1_uc010pe... Hybrid_Cap...
TLK2 p.Q60* 17 60599589 60599589 COLO783_SKIN 37 Nonsense_Mutation SNP C T uc010ddp.2 TLK2_uc002izx.3... Hybrid_Cap... view
TLR7 p.S550F X 12905276 12905276 COLO783_SKIN 37 Missense_Mutation SNP C T uc004cvc.2 Hybrid_Cap... view
TMEM123 11 102269398 102269398 COLO783_SKIN 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 p.P27L 17 7579716 7579716 COLO783_SKIN 37 Missense_Mutation SNP G A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRPM6 9 77442621 77442621 COLO783_SKIN 37 Intron SNP G C uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TRPS1 8 116635872 116635873 COLO783_SKIN 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTBK1 p.E771del 6 43250726 43250728 COLO783_SKIN 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN 2 179391639 179391640 COLO783_SKIN 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.R31193W 2 179400061 179400061 COLO783_SKIN 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E11979K 2 179496982 179496982 COLO783_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.V9427_splice 2 179554016 179554016 COLO783_SKIN 37 Splice_Site_SNP SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E5154K 2 179593461 179593461 COLO783_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN 2 179612735 179612735 COLO783_SKIN 37 Intron SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UNC13C p.R1039C 15 54527271 54527271 COLO783_SKIN 37 Missense_Mutation SNP C T uc002ack.2 Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 COLO783_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK3 p.P1006L X 54275764 54275764 COLO783_SKIN 37 Missense_Mutation SNP G A uc004dtc.1 WNK3_uc004dtd.1... Hybrid_Cap... view
YSK4 p.E64A 2 135763049 135763049 COLO783_SKIN 37 Missense_Mutation SNP T G uc002tue.1 YSK4_uc010fne.1... Hybrid_Cap... view