| melanoma |
C0025202 |
ABL1
|
|
|
ACVR1
|
|
|
PARP1
|
21983785, 28759004 |
|
AFG3L1P
|
21926416, 28212542, 21706340, 19578364 |
|
AHR
|
28212542 |
|
CRYBG1
|
22402438 |
|
AKT1
|
24265152 |
|
ALDH1A1
|
31580832 |
|
ALDH1A3
|
31580832 |
|
ALK
|
|
|
APEX1
|
16373707 |
|
FASLG
|
16487513 |
|
ARL2
|
22535842 |
|
ARNT
|
21983785 |
|
ASIP
|
18488027, 18641652, 21983785 |
|
ATM
|
21983787, 28212542 |
|
BARD1
|
|
|
CCND1
|
|
|
BRCA1
|
|
|
BRAF
|
24918823, 26678033, 26192916, 24710085, 23020132, 12460918, 23273605, 20551065, 24576830, 24154489, 27222248, 23524406, 29574239, 14679157, 24586605, 23237741, 12460919, 19404918, 18794803, 25157968, 23248257, 2493360, 22608338, 18421705, 24388723, 27689874, 12068308, 2872605, 24583796, 23614898, 22805292, 20141835, 25043973, 22663011, 19238210, 21606968, 22351686, 31580832, 22389471, 19010912, 22972589, 23833300, 25656898, 26214590, 25370471, 21639808, 16096377, 23715574, 24508103, 23918947, 23031422, 19282848, 22048237, 22735384, 23317446, 22798288, 20973932, 21656352, 22743296, 21750866, 21802280, 20630094, 22535842, 22842228, 22649091, 23584600, 21770473, 20818844, 18060073, 22997239, 22356324, 21499247, 23432625, 21483012, 23587417, 29426936, 22536370, 21156289 |
|
BRCA2
|
|
|
MRPL49
|
22535842 |
|
CAPN1
|
22535842 |
|
CASP8
|
21983787, 18563783 |
|
CASP10
|
18563783 |
|
CBS
|
25205294 |
|
CDK2
|
21559390 |
|
CDK4
|
25157968 |
|
CDKN1C
|
17145863 |
|
CDKN2A
|
29426936, 24495407, 21609436, 25157968 |
|
CDKN2B
|
|
|
CTSC
|
|
|
CLU
|
15955107 |
|
CLNS1A
|
22535842 |
|
COL2A1
|
16778180 |
|
CP
|
23792645 |
|
CSF2
|
11061616 |
|
CSF3
|
16120623, 16260693 |
|
CST6
|
22535842 |
|
CTH
|
25205294 |
|
CTLA4
|
21802280 |
|
CTNNB1
|
12124804, 11930117, 11351304, 10027390, 9065403, 11950921, 15133491, 19234609, 25157968 |
|
CUX1
|
|
|
CYP1B1
|
17145863 |
|
DCC
|
22842228 |
|
DDB2
|
|
|
DLG2
|
22535842 |
|
DSC1
|
22197931 |
|
E2F1
|
15574415, 16827129 |
|
EDA
|
22535842 |
|
EP300
|
23698071 |
|
EPB41
|
17145863 |
|
EPO
|
15743794 |
|
EPOR
|
21860424 |
|
ERBB4
|
19718025 |
|
ERCC1
|
21722328 |
|
ERCC2
|
|
|
ERCC3
|
|
|
ERCC4
|
|
|
ERCC5
|
|
|
ERCC6
|
|
|
F2RL1
|
17145863 |
|
PTK2B
|
19718025 |
|
FASN
|
20805790, 21213365, 18770866 |
|
FBN1
|
|
|
MLANA
|
26640592 |
|
FLT1
|
19718025 |
|
GLO1
|
20093988 |
|
GNA11
|
22808163, 21083380, 2549426, 23432625, 1328859, 22733540 |
|
GNAQ
|
19078957, 22733540, 18719078, 1328859, 22653968, 22253748, 22808163, 2549426, 23432625, 21083380 |
|
GRIN2A
|
21499247 |
|
GRM3
|
21946352, 22842228 |
|
HDAC2
|
22535842 |
|
HOXA9
|
16778180 |
|
HOXD12
|
16778180 |
|
HRAS
|
25157968, 30619488 |
|
HSPA1A
|
26984758 |
|
TNC
|
22842228 |
|
IFNA1
|
15577320, 16034308, 15577323, 16260693, 16260697, 16432458, 15176220 |
|
IFNA2
|
12393984, 16939954, 11135225, 18332650, 12374674, 17023156, 17576461, 18281266, 17761969, 12829675, 17709802, 12439608, 12883367, 15917704, 16034308, 16248763, 17973783, 18176117 |
|
IFNA5
|
16809738 |
|
IFNB1
|
16928243, 21846298 |
|
IFNG
|
9794839 |
|
IL2
|
16260693, 15917704, 15577323, 18176117, 16939954, 17023156, 17709802, 16131448, 19243244, 16432458, 12374674, 12439608, 18999936, 17761969, 20423231, 18281670, 18332650, 17105418, 18298334, 17576460, 16809738, 16248763 |
|
INCENP
|
22535842 |
|
KIT
|
22355224, 25157968, 18980976, 18936790, 18421059, 23775962, 21159146, 19671763, 16908931, 11276010, 24531699, 21131919, 19812602, 16046538, 21642685, 22357254, 22932406, 15790786, 24661573, 19996579, 24755198, 18510589, 7530509, 22160160, 9438854, 20545949, 17372901, 23582185, 20088873, 22261812, 16741525, 21690468, 18955458, 21969494, 21569090 |
|
KLRB1
|
17295095 |
|
KRAS
|
|
|
LGALS3
|
23994248 |
|
SMAD4
|
|
|
MAGEA1
|
26640592 |
|
MC1R
|
19578364, 28212542, 21559390, 21983785 |
|
MDM2
|
17210701 |
|
MAP3K5
|
22197930 |
|
MET
|
29426936 |
|
MELTF
|
16704991 |
|
MGMT
|
|
|
MITF
|
25043973 |
|
MAP3K9
|
22197930 |
|
MMP8
|
19330028 |
|
MPST
|
25205294 |
|
MRE11
|
|
|
MYO1B
|
|
|
MTAP
|
19578364, 21706340, 21983787, 28212542 |
|
MX2
|
21983787, 28212542 |
|
MYO7A
|
22535842 |
|
NBN
|
|
|
NF1
|
25119042, 26214590 |
|
NF2
|
|
|
NFKBIE
|
26343386 |
|
NPPA
|
18004088 |
|
NRAS
|
23431193, 23538902, 26214590, 23569304, 25043973, 20130576, 18390968, 24918823, 23432625, 2674680, 16291983, 29574239, 18375819, 20406486, 22962325, 8120410, 25157968, 22761467, 21576590, 23414587, 22535842, 20179705, 20149136, 23076151, 21107323, 22842228, 23614898 |
|
OCA2
|
28212542 |
|
PAK1
|
|
|
PAX4
|
18949370 |
|
PAX6
|
16778180 |
|
PDCD1
|
21802280 |
|
PDGFRA
|
24132921 |
|
PIK3CA
|
25157968, 24265155 |
|
PIP4K2A
|
22535842 |
|
PLCB4
|
21499247 |
|
POLH
|
|
|
POMC
|
24412703 |
|
PPARD
|
28962521 |
|
PPARG
|
14512786, 28962521 |
|
PPP6C
|
22842228 |
|
MAP2K1
|
22588879, 21383288, 23444215, 22197931, 23569304, 21107320, 24448821, 19915144, 22622578, 23614898, 25157968 |
|
MAP2K2
|
22197931, 24265153, 24265154 |
|
PTEN
|
12471211, 9140396, 10978354, 22535842, 19282848 |
|
PTGS2
|
17499752, 17145863, 18454317 |
|
PTPN11
|
|
|
PTPRK
|
22535842, 22842228 |
|
PTPRO
|
21499247 |
|
RAC1
|
22842228 |
|
RAC2
|
17145863 |
|
RAD51
|
|
|
RAD51C
|
|
|
RAD51D
|
|
|
RAF1
|
23737487 |
|
RAP1GAP
|
22614916, 19147557 |
|
RASA2
|
26502337, 26214590 |
|
RET
|
|
|
ROS1
|
22535842 |
|
RPS3
|
22535842 |
|
S100A4
|
29179997 |
|
SDHB
|
|
|
SDHC
|
|
|
SDHD
|
25261935 |
|
PMEL
|
26640592 |
|
SIPA1
|
22535842 |
|
SLC5A5
|
12489024 |
|
SLC6A11
|
21499247 |
|
SLC15A2
|
22842228 |
|
AURKA
|
22535842 |
|
STK11
|
10208439 |
|
SYK
|
17145863 |
|
SYT4
|
21499247 |
|
PRDX2
|
16778180 |
|
TERT
|
18460650, 20856939 |
|
TLR4
|
22842228 |
|
TNF
|
18388930, 10379864, 9794839, 9843018 |
|
TP53
|
29574239, 21691232, 17210701, 22842228 |
|
TYR
|
24980573, 21706340, 19578364, 21559390, 21983787, 26640592, 28212542, 18488027 |
|
TYRP1
|
26640592 |
|
UGT2B10
|
21499247 |
|
VEGFC
|
17562445 |
|
XPA
|
|
|
XPC
|
|
|
XRCC3
|
11059748 |
|
SF1
|
22535842 |
|
CXCR4
|
|
|
TFPI2
|
17372906 |
|
MLLT10
|
22535842 |
|
CUBN
|
22535842 |
|
TRRAP
|
21499247 |
|
BAP1
|
|
|
PLA2G6
|
21706340, 28212542, 19578364 |
|
CUL3
|
22535842 |
|
CDK10
|
24980573, 19578364, 28212542, 21926416, 21983787, 21706340 |
|
HERC2
|
21926416 |
|
PKMYT1
|
22535842 |
|
PTER
|
22535842 |
|
GDF15
|
17145863 |
|
RIN1
|
22535842 |
|
KDM4A
|
29438700 |
|
BZW1
|
22535842 |
|
USP6NL
|
22535842 |
|
JAKMIP2
|
22842228 |
|
GAB2
|
22535842 |
|
SETDB1
|
21983785 |
|
MAGEC1
|
22842228 |
|
REC8
|
16778180 |
|
AKT3
|
|
|
HDAC6
|
22535842 |
|
RAD50
|
|
|
SNAPC5
|
22197931 |
|
NDRG1
|
15341671 |
|
HOXB13
|
17145863 |
|
SEC23B
|
|
|
RPP38
|
22535842 |
|
DRAP1
|
22535842 |
|
STAG2
|
|
|
RAI1
|
22535842 |
|
HPSE
|
22240343 |
|
STIP1
|
22535842 |
|
PRSS23
|
22535842 |
|
IL1RAPL1
|
22535842 |
|
CHEK2
|
|
|
RALY
|
28212542, 21983787 |
|
KLRK1
|
17295095 |
|
PALLD
|
|
|
KDM1A
|
29438700 |
|
KDM4B
|
29438700 |
|
NCOA6
|
18488026 |
|
KDM4C
|
29438700 |
|
JMJD6
|
30619488 |
|
TSPYL4
|
22535842 |
|
UBR4
|
|
|
SUZ12
|
25119042 |
|
PRAME
|
16179254 |
|
NPAP1
|
22842228 |
|
QPCT
|
17145863 |
|
ASF1A
|
22535842 |
|
POT1
|
24686849 |
|
PHGDH
|
21804546 |
|
PPP1R14B
|
22535842 |
|
SLC17A5
|
21499247 |
|
CNNM1
|
16778180 |
|
DNAJC15
|
17145863 |
|
ANKRD11
|
21706340 |
|
SAC3D1
|
22535842 |
|
RAX
|
16778180 |
|
SLC45A2
|
18563784, 21983787, 21559390, 28212542 |
|
PHF20
|
18488026 |
|
MBTPS2
|
|
|
HIKESHI
|
22535842 |
|
CDK5RAP1
|
18488026 |
|
LRP1B
|
22197931 |
|
TERF2IP
|
|
|
WDR74
|
22535842 |
|
TET2
|
24980573 |
|
DEF8
|
21926416 |
|
RNF43
|
|
|
CDKAL1
|
28212542 |
|
STX17
|
18641652 |
|
MTPAP
|
22535842 |
|
ACER3
|
22535842 |
|
TNFRSF19
|
17187358 |
|
ECHDC1
|
22535842 |
|
PCDHB8
|
21499247 |
|
LXN
|
17145863 |
|
AKR1B10
|
21499247 |
|
GOPC
|
22535842 |
|
MYH7B
|
28212542, 18488026 |
|
GPAM
|
22535842 |
|
FHIP2A
|
22535842 |
|
WFDC1
|
17145863 |
|
TRAPPC1
|
|
|
PERP
|
|
|
DNAJC1
|
22535842 |
|
IQCH
|
22535842 |
|
ACD
|
|
|
DBNDD1
|
21706340, 21926416 |
|
FTO
|
23455637, 28212542 |
|
FAT4
|
22197931 |
|
PALB2
|
|
|
EPHX3
|
16778180 |
|
STN1
|
28212542 |
|
ADAMTS20
|
21559390 |
|
SLC35G2
|
16778180 |
|
CLPTM1L
|
21983787 |
|
C11orf68
|
22535842 |
|
BRIP1
|
|
|
EIF1AD
|
22535842 |
|
TMEM132B
|
21499247 |
|
DDIT4L
|
16778180 |
|
BATF2
|
22535842 |
|
NUS1
|
22535842 |
|
SPATA33
|
21706340 |
|
CPT1C
|
16778180 |
|
ZNF831
|
21499247 |
|
BPIFA3
|
18488026, 21983787 |
|
PIGU
|
18488026, 28212542 |
|
FLACC1
|
21983787, 28212542 |
|
RMDN2
|
28212542 |
|
CCDC63
|
21499247 |
|
TMEM30B
|
16778180 |
|
TRPV3
|
|
|
GPHA2
|
22535842 |
|
KHDRBS2
|
21499247 |
|
ZNF438
|
22535842 |
|
SLC39A12
|
22535842 |
|
ARL5B
|
22535842 |
|
NT5DC1
|
22535842 |
|
HS3ST5
|
22535842 |
|
RFX6
|
22535842 |
|
VGLL2
|
22535842 |
|
SLC25A45
|
22535842 |
|
CD163L1
|
22842228 |
|
DCBLD1
|
22535842 |
|
TAS2R60
|
21499247 |
|
ABCB5
|
15899824 |
|
KHSRPP1
|
21926416 |
|
MIR340
|
25043973 |
|
NORAD
|
18488026 |
|
KLLN
|
|
|
CTXND2
|
28212542, 21983785 |
|
LINC01505
|
28212542 |
|
LINC02218
|
28212542 |
| Cutaneous Melanoma |
C0151779 |
AHR
|
30429480, 26237428 |
|
AKT1
|
|
|
ALK
|
|
|
ARAF
|
26619011 |
|
ARNT
|
30429480 |
|
ATM
|
30429480 |
|
B2M
|
26619011 |
|
CCND1
|
|
|
BRAF
|
26619011 |
|
CDH1
|
26237428 |
|
CDK4
|
26619011 |
|
CDKN2A
|
22080950, 26619011 |
|
CNR1
|
28131817 |
|
CREB1
|
29179997 |
|
CREBBP
|
26619011 |
|
CTNNB1
|
26619011 |
|
CUX1
|
|
|
CYP1B1
|
30429480 |
|
CYP21A2
|
26619011 |
|
DDB2
|
|
|
ERBB2
|
26619011 |
|
ERBB4
|
|
|
ERCC2
|
|
|
ERCC3
|
|
|
ERCC4
|
|
|
ERCC5
|
|
|
EZH2
|
26619011 |
|
FANCA
|
30429480 |
|
MTOR
|
26619011 |
|
GNA11
|
26619011 |
|
GNAQ
|
|
|
GNAS
|
26619011 |
|
GPR37
|
26237428 |
|
HRAS
|
26619011 |
|
IDH1
|
26619011 |
|
IRF3
|
26619011 |
|
KIT
|
26619011 |
|
KRAS
|
26619011 |
|
MC1R
|
|
|
MITF
|
22080950 |
|
MTAP
|
30429480 |
|
MX2
|
30429480 |
|
MYC
|
26619011 |
|
NF1
|
|
|
NFIC
|
30429480 |
|
NRAS
|
26619011 |
|
OCA2
|
26237428 |
|
PAK1
|
|
|
PDGFRA
|
|
|
PIK3CA
|
26619011 |
|
PIK3R1
|
26619011 |
|
POLH
|
|
|
PPP6C
|
26619011 |
|
MAP2K1
|
26619011 |
|
MAP2K2
|
26619011 |
|
PTEN
|
26619011 |
|
RAC1
|
26619011 |
|
RAF1
|
26619011 |
|
RET
|
|
|
STK11
|
|
|
TP53
|
26619011 |
|
TYR
|
30429480 |
|
XPA
|
|
|
XPC
|
|
|
CXCR4
|
|
|
TRRAP
|
|
|
BAP1
|
26719535, 25231345 |
|
PLA2G6
|
30429480 |
|
STK19
|
26619011 |
|
GPRC5A
|
30429480 |
|
CNOT9
|
26619011 |
|
HDAC4
|
30429480 |
|
STAG2
|
|
|
SF3B2
|
26619011 |
|
JMJD6
|
30619488 |
|
SYNE2
|
30429480 |
|
SF3B1
|
26619011 |
|
WDPCP
|
26237428 |
|
CRNKL1
|
26619011 |
|
CDKAL1
|
26237428 |
|
TASOR2
|
30429480 |
|
FBXW7
|
26619011 |
|
FTO
|
30429480 |
|
STN1
|
26237428 |
|
CLPTM1L
|
30429480 |
|
DOCK8
|
30429480 |
|
BCL2L12
|
26619011 |
|
KNSTRN
|
26619011 |
|
PIGU
|
30429480 |
|
PPARGC1B
|
30429480 |
|
TTC7B
|
30429480 |
|
RMDN2
|
26237428 |
|
C11orf65
|
30429480 |
|
CYP1B1-AS1
|
30429480 |
|
FMN1
|
30429480 |
|
LINC-PINT
|
26237428 |
|
CASC11
|
26619011 |
|
LINC01505
|
30429480, 26237428 |
| Melanoma, Amelanotic |
C0206735 |
IFNB1
|
15990972 |
| Familial melanoma |
618 |
CDK4
|
|
|
CDKN2A
|
|
|
MITF
|
|
|
TERT
|
|
|
MC1R
|
|
|
BAP1
|
|
|
CDKN2B
|
|
|
MGMT
|
|
|
POT1
|
|
|
ACD
|
|
|
TERF2IP
|
|
| NON RARE IN EUROPE: Melanoma |
411533 |
BRAF
|
|
|
NRAS
|
|
| Melanoma of soft tissue |
97338 |
EWSR1
|
|
|
ATF1
|
|
|
CREB1
|
|
