Skin Cutaneous Melanoma: Copy number analysis (GISTIC2)
(NF1_Any_Mutants cohort)
Maintained by Dan DiCara (Broad Institute)
Overview
Introduction

GISTIC identifies genomic regions that are significantly gained or lost across a set of tumors. The pipeline first filters out normal samples from the segmented copy-number data by inspecting the TCGA barcodes and then executes GISTIC version 2.0.17a (Firehose task version: 0.0.8).

Summary

There were 31 tumor samples used in this analysis: 16 significant arm-level results, 7 significant focal amplifications, and 12 significant focal deletions were found.

Results
Focal results

Figure 1.  Genomic positions of amplified regions: the X-axis represents the normalized amplification signals (top) and significance by Q value (bottom). The green line represents the significance cutoff at Q value=0.25.

Table 1.  Get Full Table Amplifications Table - 7 significant amplifications found. Click the link in the last column to view a comprehensive list of candidate genes. If no genes were identified within the peak, the nearest gene appears in brackets.

Cytoband Q value Residual Q value Wide Peak Boundaries # Genes in Wide Peak
1p12 0.00014685 0.00014685 chr1:119797140-149881397 95
1q44 0.099401 0.099401 chr1:226892109-249250621 199
7q36.1 0.22956 0.22956 chr7:97232455-159138663 543
7p22.3 0.22956 0.22956 chr7:1-49161068 343
12p12.1 0.22956 0.22956 chr12:25237725-26874538 12
15q26.2 0.22956 0.22956 chr15:68436609-102531392 332
17q25.3 0.22956 0.22956 chr17:45627595-81195210 515
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 1p12.

Table S1.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
BCL9
NOTCH2
PDE4DIP
hsa-mir-3118-3
hsa-mir-3118-2
hsa-mir-3118-1
FCGR1A
FCGR1B
FMO5
GJA5
GJA8
HMGCS2
HSD3B1
HSD3B2
PDZK1
PRKAB2
HIST2H2AA3
HIST2H2AC
HIST2H2BE
HIST2H4A
ITGA10
PEX11B
SEC22B
CHD1L
SV2A
RBM8A
PIAS3
POLR3C
TXNIP
ADAM30
CD160
NBPF14
PHGDH
RNF115
BOLA1
HAO2
ACP6
GPR89B
FAM91A2
REG4
POLR3GL
ZNF697
GNRHR2
HIST2H3C
LIX1L
HSD3BP4
HFE2
ANKRD35
PPIAL4A
PDIA3P
NBPF11
NUDT17
NBPF15
ANKRD34A
HIST2H2AB
HIST2H3A
HIST2H2BC
HIST2H2BA
NBPF7
LOC375010
NOTCH2NL
FLJ39739
LOC388692
NBPF9
HIST2H2BF
HIST2H4B
LOC644242
PPIAL4G
PPIAL4D
LOC645166
EMBP1
SRGAP2P2
PPIAL4B
LOC653513
GPR89A
PPIAL4C
HIST2H3D
FAM72B
HIST2H2AA4
FAM72D
LOC728855
LOC728875
NBPF24
GPR89C
NBPF16
PDZK1P1
PPIAL4F
LOC728989
PPIAL4E
PFN1P2
LOC100130000
NBPF10
FCGR1C
LOC100286793
LOC100289211
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 1q44.

Table S2.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
FH
hsa-mir-3124
hsa-mir-3123
hsa-mir-1537
hsa-mir-1182
ACTA1
ACTN2
ADSS
AGT
ARF1
CHML
LYST
CHRM3
GALNT2
GNG4
GUK1
HNRNPU
ITPKB
KCNK1
LGALS8
MTR
NID1
PSEN2
RAB4A
RGS7
RYR2
TARBP1
TBCE
GPR137B
TSNAX
WNT9A
ZNF124
HIST3H3
GNPAT
CDC42BPA
KMO
EXO1
GGPS1
TOMM20
URB2
CEP170
AKT3
ZNF238
SPHAR
CAPN9
SDCCAG8
COG2
RBM34
ABCB10
OPN3
TRIM58
AHCTF1
OR1C1
OR2M4
OR2L2
OR2L1P
OR2T1
TAF5L
DISC2
DISC1
PPPDE1
SCCPDH
TRIM17
ARID4B
EGLN1
KIAA1383
KIF26B
HEATR1
ZNF692
NUP133
ERO1LB
FMN2
ADCK3
ZNF695
GJC2
SIPA1L2
ZP4
RHOU
TFB2M
GREM2
SMYD3
ARV1
JMJD4
C1orf35
TTC13
PGBD5
ZNF669
ZNF672
PCNXL2
SH3BP5L
OR2G3
OR2G2
OR2C3
TRIM11
C1orf124
OBSCN
NTPCR
EFCAB2
KIAA1804
ZNF496
C1orf198
WNT3A
HIST3H2A
ZNF670
NLRP3
FAM36A
SNAP47
C1orf96
OR2M5
OR2M3
OR2T12
OR14C36
OR2T34
OR2T10
OR2T4
OR2T11
OR2B11
WDR64
C1orf131
EDARADD
MRPL55
HIST3H2BB
SLC35F3
B3GALNT2
C1orf150
LOC148824
LOC149134
EXOC8
RNF187
CNST
PLD5
C1orf100
IBA57
OR2T6
LOC255654
C1orf101
PGBD2
OR2L13
OR14A16
HNRNPU-AS1
VN1R5
ZNF678
PRSS38
LOC339529
LOC339535
OR6F1
OR2W3
OR2T8
OR2T3
OR2T29
IRF2BP2
FAM89A
C1orf31
C1orf229
OR2M1P
OR11L1
OR2L8
OR2AK2
OR2L3
OR2M2
OR2T33
OR2M7
OR2G6
ZNF847P
OR2T2
OR2T5
OR14I1
OR2T27
OR2T35
TRIM67
MAP1LC3C
OR2W5
OR13G1
DUSP5P
SNRPD2P2
RPS7P5
LOC646627
SNORA14B
LOC731275
LOC100130093
LOC100130331
LOC100287814
LGALS8-AS1
MIR1182
MIR1537
LINC00184
TSNAX-DISC1
MIR3123
MIR3124
MIR3620
MIR3916
LOC100506795
LOC100506810
ZNF670-ZNF695
MIR4753
MIR4666A
MIR4677
MIR4671
MIR4427
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 7q36.1.

Table S3.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
BRAF
EZH2
MET
SMO
KIAA1549
MLL3
CREB3L2
hsa-mir-595
hsa-mir-153-2
hsa-mir-671
hsa-mir-1975
hsa-mir-548f-4
hsa-mir-490
hsa-mir-29b-1
hsa-mir-335
hsa-mir-183
hsa-mir-129-1
hsa-mir-593
hsa-mir-592
hsa-mir-548o
hsa-mir-4285
hsa-mir-106b
ABP1
ACHE
AKR1B1
ARF5
ASNS
AZGP1
OPN1SW
BPGM
CALD1
CALU
CAPZA2
CASP2
CAV1
CAV2
CDK5
CFTR
CHRM2
AP1S1
CLCN1
CPA1
CPA2
CUX1
CYP3A7
CYP3A4
CYP3A5
DLD
DPP6
SLC26A3
EN2
EPHA1
EPHB4
EPHB6
EPO
FLNC
GBX1
GNB2
GPR22
GPR37
GRM8
MNX1
AGFG2
HTR5A
IFRD1
IMPDH1
INSIG1
IRF5
KCND2
KCNH2
KEL
LAMB1
LEP
LRCH4
MCM7
DNAJB9
MEST
MKLN1
NDUFA5
NDUFB2
NOS3
CNOT4
NPTX2
NRCAM
NRF1
OCM2
ORC5
SERPINE1
PAX4
PCOLCE
SLC26A4
PIK3CG
PIP
PMS2P1
PODXL
POLR2J
PPP1R3A
PRKAR2B
PRSS1
PRSS2
RELN
PSMC2
TAS2R38
PTN
PTPRN2
PTPRZ1
RARRES2
RHEB
SHH
SLC4A2
SLC13A1
SMARCD3
SPAM1
AKR1D1
SRPK2
SSBP1
SYPL1
TAC1
TAF6
TBXAS1
TFR2
TRIP6
UBE2H
VGF
VIPR2
ZAN
WNT2
XRCC2
ZNF3
ZKSCAN1
ZSCAN21
ZYX
ST7
ARHGEF5
ZNF212
TRRAP
ZNF282
CUL1
TRIM24
BUD31
MGAM
WASL
PLOD3
DGKI
AP4M1
ATP6V1F
ACCN3
PMPCB
ATP5J2
PDIA4
UBE3C
FAM131B
DOCK4
FAM115A
DNAJB6
ABCF2
MUC12
ARPC1B
NAMPT
RASA4
AASS
LRRC17
POP7
FAM3C
COG5
ZNHIT1
ARPC1A
SH2B2
STAG3
CPSF4
FASTK
COPS6
DUS4L
ZNF277
ABCB8
PDAP1
TFEC
LAMB4
LMTK2
PAXIP1
KLHDC10
SSPO
NUP205
AHCYL2
TNPO3
HYAL4
TSPAN12
CLEC5A
MKRN1
ZKSCAN5
CLDN15
BRI3
TECPR1
POT1
PTCD1
CNTNAP2
HYALP1
TES
GIMAP2
OR2F1
FBXO24
SLC13A4
COPG2
HBP1
DNAJC2
TPK1
SND1
SND1-IT1
DENND2A
ZNF777
TMEM176B
HIPK2
WDR91
REPIN1
HILPDA
MDFIC
PILRB
PILRA
FSCN3
ATP6V0A4
PNPLA8
TAS2R3
TAS2R4
TAS2R16
FIS1
CPA4
WNT16
ACTL6B
PRKAG2
ZC3HC1
SRRT
LUC7L2
MRPS33
NUB1
NAA38
GPR85
TAS2R5
CHPF2
PUS7
ING3
LRRN3
ALKBH4
NCAPG2
CHCHD3
ZCWPW1
WDR60
RBM28
C7orf43
TMEM140
GIMAP4
GIMAP5
TMEM176A
TRPV6
AGK
METTL2B
MLL5
BAIAP2L1
BCAP29
MEPCE
TRPV5
ANKRD7
ZC3HAV1
SLC12A9
AKR1B10
SMURF1
ACTR3B
KIAA1147
FAM40B
ESYT2
ZNF398
EXOC4
RINT1
GALNT11
LRRC4
LMBR1
TMEM168
LINC00244
NOM1
MOSPD3
GIGYF1
CCDC136
PARP12
RABL5
CYP3A43
LRRC61
C7orf49
ZNF655
PVRIG
GCC1
GAL3ST4
PRKRIP1
CBLL1
ZNF767
C7orf58
TTC26
ORAI2
JHDM1D
OR2AE1
TSC22D4
TRIM56
TMUB1
ARMC10
IMMP2L
CTTNBP2
ZNF394
MYH16
SLC37A3
KRBA1
FAM71F1
SLC35B4
TMEM209
TRIM4
OR6W1P
ADCK2
PLXNA4
ZC3HAV1L
MYL10
LOC93432
ST7-AS1
ST7-AS2
ST7-OT3
CADPS2
CPA5
FOXP2
CEP41
C7orf29
TSGA13
AGAP3
C7orf13
OR9A4
OR9A2
C7orf34
TMEM139
NOBOX
OR2A14
OR6B1
OR2F2
ZNF786
EMID2
PRSS37
KLF14
C7orf45
SVOPL
MTPN
LRGUK
ASB10
PRSS58
ASZ1
MUC17
RNF32
ASB15
C7orf60
TRY6
LOC154761
CLEC2L
C7orf55
LOC154822
LOC154860
IQUB
LOC154872
C7orf66
TMEM213
GIMAP8
CRYGN
ZNF425
LOC155060
ZNF746
ATP6V0E2
RBM33
MGC27345
GALNTL5
RNF133
THAP5
CCDC71L
GIMAP7
ZNF467
BHLHA15
ZNF800
GIMAP1
LOC202781
C7orf33
FABP5P3
ZNF498
FAM200A
PPP1R35
GPC2
LRWD1
FAM185A
FBXL13
NAPEPLD
ATXN7L1
CDHR3
TMEM130
NYAP1
CNPY4
POLR2J2
UBN2
MBLAC1
TAS2R39
TAS2R40
TAS2R41
CNPY1
LOC285889
FLJ40852
LOC285965
FAM115C
ZNF775
LOC285972
ATG9B
ZNF789
LOC286002
C7orf53
TPI1P2
FLJ40288
MESTIT1
ST7-OT4
TAS2R60
CTAGE6P
TSPAN33
AGBL3
OR6V1
OR2A12
OR2A1
MOGAT3
FAM71F2
STRA8
KLRG2
WDR86
GJC3
DPY19L2P2
LOC349160
GATS
GSTK1
NAT16
SLC26A5
LHFPL3
KCP
FLJ43663
RNF148
MGC72080
C7orf59
FEZF1
FAM180A
OR2A25
OR2A5
LOC401397
PRRT4
RAB19
OR2A7
OR2A20P
LOC401431
OR2A42
FLJ45340
KPNA7
C7orf61
UFSP1
MIR106B
MIR129-1
MIR153-2
MIR182
MIR183
MIR25
MIR29A
MIR29B1
MIR93
MIR96
LOC407835
SPDYE3
SPDYE2
AKR1B15
CTAGE15P
OR2A9P
OR2A2
EIF3IP1
LMOD2
MIR335
ARHGEF35
GIMAP6
WEE2
POLR2J3
MIR490
ZNF862
LOC645249
LOC645591
AZGP1P1
LOC646329
C7orf73
ACTR3C
MIR592
MIR593
MIR595
LOC723809
LOC728377
LOC728743
SPDYE6
TMEM229A
LOC730441
LUZP6
MIR671
LOC100124692
LOC100128264
CTAGE4
LOC100128822
LOC100129148
RPL19P12
LOC100129845
LOC100130705
EFCAB10
LOC100130880
LOC100131176
LOC100132707
LOC100134229
LOC100134713
UPK3BL
LOC100216545
LOC100216546
LOC100287482
MOXD2P
LOC100289187
LOC100289561
ZNF783
MIR548F3
MIR548I4
SPDYE2L
MIR548F4
SAP25
MIR548T
MIR4285
MTRNR2L6
MIR3609
MIR3907
MIR3666
LOC100505483
LOC100506585
LOC100507421
ATP5J2-PTCD1
GIMAP1-GIMAP5
MIR4653
MIR4468
MIR4467
MIR4658
LOC100630923
CYP3A7-CYP3AP1
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 7p22.3.

Table S4.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
ETV1
HNRNPA2B1
HOXA9
HOXA11
HOXA13
PMS2
CARD11
JAZF1
hsa-mir-1200
hsa-mir-548n
hsa-mir-550-2
hsa-mir-550-1
hsa-mir-196b
hsa-mir-148a
hsa-mir-1183
hsa-mir-3146
hsa-mir-1302-6
hsa-mir-589
hsa-mir-339
ACTB
ADCY1
ADCYAP1R1
AEBP1
AHR
AMPH
AOAH
AQP1
BLVRA
CAMK2B
SEPT7
CHN2
CLK2P
CRHR2
DGKB
DFNA5
EVX1
GARS
GCK
GHRHR
GLI3
GNA12
GPER
HOXA1
HOXA2
HOXA3
HOXA4
HOXA5
HOXA6
HOXA7
HOXA10
HUS1
ICA1
IGFBP1
IGFBP3
IL6
INHBA
ITGB8
LFNG
MEOX2
NUDT1
NDUFA4
NPY
OGDH
PDE1C
PDGFA
PGAM2
POLD2
PPIA
PRKAR1B
PSMA2
PURB
RAC1
RALA
RP9
RPA3
SFRP4
FSCN1
SP4
TWIST1
UPP1
ZNF12
AIMP2
MAFK
MAD1L1
CDK13
EIF3B
DNAH11
TAX1BP1
SKAP2
TBRG4
STK17A
CYTH3
CREB5
NFE2L3
PHF14
HDAC9
RAPGEF5
SCRN1
KIAA0087
ELMO1
TRIL
KIAA0415
ARL4A
RAMP3
NOD1
GPNMB
AGR2
IGF2BP3
YKT6
PPP1R17
KDELR2
ADAP1
NUPL2
HIBADH
INMT
POU6F2
FKBP9
CBX3
HECW1
AVL9
NACAD
SNX13
IQCE
DPY19L1
SUN1
KIAA0895
NUDCD3
LSM5
SOSTDC1
KBTBD2
OSBPL3
WIPI2
INTS1
VPS41
TSPAN13
EIF2AK1
BBS9
POLM
BZW2
DBNL
NPC1L1
SNX8
SNX10
TRA2A
FTSJ2
NXPH1
NT5C3
TXNDC3
GET4
UBE2D4
CCZ1
MPP6
CYCS
ANLN
MIOS
RNF216
CPVL
TOMM7
DDX56
TMEM106B
EPDR1
ZNF853
CYP2W1
HEATR2
FKBP14
ZDHHC4
CHST12
CDCA7L
URGCP
RADIL
C7orf44
KLHL7
STK31
PAPOLB
C1GALT1
FAM20C
YAE1D1
ANKMY2
TBX20
RBAK
MYL7
NEUROD6
MYO1G
NPVF
HERPUD2
TNS3
MRPS24
MRPL32
GGCT
C7orf25
C7orf26
MICALL2
C7orf10
FBXL18
C7orf69
TTYH3
EEPD1
CCM2
ZMIZ2
STARD3NL
USP42
FAM188B
PSMG3
C7orf50
TNRC18
FAM126A
PLEKHA8
C7orf70
POLR2J4
LINC00525
SCIN
ZFAND2A
COX19
CCDC126
H2AFV
GLCCI1
KIAA1908
GPR146
C7orf30
C7orf57
C7orf11
C7orf31
ABCA13
AMZ1
AGR3
CDC14C
PKD1L1
BMPER
PER4
TMEM184A
VWDE
PRPS1L1
TWISTNB
SP8
HOXA11-AS1
BRAT1
SDK1
FOXK1
MMD2
DAGLB
CCZ1B
THSD7A
TMED4
DKFZP586I1420
C7orf41
PRR15
FERD3L
RPL23P8
SLC29A4
RSPH10B
CCDC129
ZNRF2
FLJ35390
TMEM196
STEAP1B
RPS2P32
SUN3
TFAMP1
C7orf71
LOC285954
SPDYE1
SNHG15
UNCX
COL28A1
ABCB5
C7orf46
FAM183B
MACC1
LINC00265
GPR141
NPSR1
LOC389458
ELFN1
AGMO
GRID2IP
ZNF815
LOC401320
LOC401321
LOC401324
RASA4P
C7orf65
AAA1
MIR148A
RNF216P1
PMS2CL
LOC441204
ZNRF2P1
RP9P
FLJ44511
LOC442497
DPY19L2P3
MIR339
MIR196B
TARP
DPY19L2P1
SEPT7P2
WIPF3
ZNF890P
LOC646762
LOC646999
OCM
SNORA5A
SNORA5B
SNORA5C
SNORA9
SNORD93
MIR550A1
MIR550A2
MIR589
RSPH10B2
LOC729852
ISPD
JAZF1-AS1
DPY19L1P1
LOC100130673
LOC100131257
LOC100133311
ZNRF2P2
LOC100288524
MIR1200
HOTTIP
MIR3146
MIR3943
MIR550B2
MIR550B1
LOC100506025
LRRC72
LOC100506178
HOTAIRM1
LOC100506497
LOC100506776
LOC100506895
INMT-FAM188B
RBAK-LOC389458
HOXA10-HOXA9
URGCP-MRPS24
MIR4648
MIR4655
MIR4649
MIR550A3
MIR4657
MIR4656
KLHL7-AS1
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 12p12.1.

Table S5.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
KRAS
hsa-mir-4302
ITPR2
LRMP
SSPN
RASSF8
CASC1
BHLHE41
LYRM5
IFLTD1
MIR4302
LOC100506451
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 15q26.2.

Table S6.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
BLM
IDH2
NTRK3
PML
CRTC3
hsa-mir-1302-10
hsa-mir-1469
hsa-mir-3175
hsa-mir-3174
hsa-mir-9-3
hsa-mir-7-2
hsa-mir-1276
hsa-mir-549
hsa-mir-184
hsa-mir-4313
hsa-mir-631
hsa-mir-630
hsa-mir-629
hsa-mir-4312
ACAN
ALDH1A3
ANPEP
BBS4
BCL2A1
BNC1
CHD2
CHRNA3
CHRNA5
CHRNB4
CLK3
CRABP1
CSK
CSPG4
CTSH
CYP1A1
CYP1A2
CYP11A1
ETFA
FAH
FES
HEXA
IDH3A
IGF1R
IL16
IREB2
ISG20
ISLR
LOXL1
MAN2A2
MAN2C1
MEF2A
MFGE8
MPI
MYO9A
NEO1
NMB
FURIN
PCSK6
PDE8A
PKM2
PLIN1
POLG
PSMA4
PTPN9
RASGRF1
RCN2
RLBP1
RPLP1
RPS17
SH3GL3
SNRPA1
NR2F2
TLE3
TYRO3P
AP3B2
ANP32A
ST8SIA2
SEMA7A
PIAS1
PEX11A
IQGAP1
PSTPIP1
PRC1
SLC28A1
COX5A
STOML1
HOMER2
KIF23
ZNF592
SV2B
ARNT2
NR2E3
HCN4
SCAMP2
SNUPN
TSPAN3
FEM1B
AP3S2
HMG20A
CORO2B
SEMA4B
CIB2
CIB1
MTHFS
ARID3B
MORF4L1
ABHD2
ADAMTS7
AKAP13
ITGA11
CHSY1
TBC1D2B
MESDC2
ACSBG1
KIAA1024
SYNM
TMED3
SEC11A
GABARAPL3
ARIH1
SIN3A
ULK3
GLCE
FBXO22
VPS33B
MRPL46
OR4F4
NPTN
SLCO3A1
SCAPER
HDGFRP3
NGRN
RHCG
BTBD1
TM6SF1
ZFAND6
SCAND2
LRRC49
PAQR5
RPP25
COMMD4
CLN6
ZSCAN2
DET1
UACA
LINS
FANCI
IMP3
LARP6
DNAJA4
MCTP2
SELS
GOLGA6B
MESP1
UNC45A
C15orf39
THAP10
RGMA
WDR93
PARP6
C15orf17
ADAMTSL3
KIAA1199
ALPK3
ISLR2
FAM108C1
MESDC1
PPCDC
CELF6
STRA6
KLHL25
CPEB1
AEN
ISL2
TTC23
MRPS11
NOX5
EFTUD1
NEIL1
LRRK1
LMAN1L
PEAK1
THSD4
ANP32A-IT1
C15orf34
CCDC33
EDC3
AGSK1
TM2D3
WDR61
CD276
STARD5
C15orf5
ADPGK
FAM103A1
MEX3B
LINGO1
WDR73
UBL7
C15orf42
RCCD1
LOC91450
CALML4
ARRDC4
LOC91948
UBE2Q2
C15orf40
SENP8
TARSL2
HIGD2B
LRRC28
C15orf27
AGBL1
AGPHD1
WHAMM
FSD2
ASB7
LYSMD4
PGPEP1L
LOC145820
LOC145837
C15orf32
HAPLN3
MESP2
SPATA8
NRG4
LINC00052
C15orf26
TBC1D21
ODF3L1
ADAMTS17
SCAMP5
DNM1P46
CT62
GRAMD2
CERS3
SPESP1
LOC253044
LOC254559
SNX33
LINC00277
C15orf60
C15orf37
LOC283688
LOC283692
LOC283693
FAM154B
LOC283731
LOC283738
LOC283761
FAM169B
TMEM202
LOC338963
GOLGA6A
TMC3
ZNF774
C15orf38
GOLGA6L5
KIF7
ZNF710
HDDC3
WASH3P
C15orf59
LOC388152
UBE2Q2P1
FLJ42289
ANKRD34C
C15orf58
OR4F6
OR4F15
LOC390660
ST20
FAM174B
LOC400456
MIR184
MIR7-2
MIR9-3
C15orf50
LOC440288
GOLGA6L9
LOC440297
DNM1P41
LOC440300
TTLL13
CPLX3
LOC645752
SH2D7
LOC646938
GOLGA6L10
LOC648809
GOLGA6C
GOLGA6D
SCARNA15
FBXO22-AS1
MIR549
MIR629
MIR630
MIR631
LOC727849
LOC727915
ASB9P1
LOC729739
LOC729911
FAM138E
DNM1P35
UBE2Q2P3
UBE2Q2P2
LOC100144604
GPCRLTM7
DDX11L1
LOC100287559
LOC100287616
DDX11L9
MIR1276
MIR1179
MIR1469
MIR548H4
MIR4312
MIR3175
MIR4313
RPS17L
LOC100505679
LOC100506874
LOC100507217
LOC100507472
C15orf38-AP3S2
ST20-MTHFS
MIR4514
MIR4513
MIR3529
MIR4515
MIR4714
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 17q25.3.

Table S7.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
CD79B
CLTC
COL1A1
DDX5
HLF
PRKAR1A
ASPSCR1
BRIP1
MSI2
CANT1
hsa-mir-3186
hsa-mir-1250
hsa-mir-4316
hsa-mir-636
hsa-mir-635
hsa-mir-548d-2
hsa-mir-634
hsa-mir-4315-2
hsa-mir-633
hsa-mir-21
hsa-mir-301a
hsa-mir-142
hsa-mir-3185
hsa-mir-196a-1
hsa-mir-10a
hsa-mir-1203
hsa-mir-152
AANAT
ACOX1
ACTG1
BIRC5
APOH
ARHGDIA
ATP5G1
CA4
CACNG1
CD7
CDK3
CHAD
COX11
CSH1
CSH2
CSHL1
CSNK1D
SLC25A10
CYB561
ACE
DLX3
DLX4
ERN1
EVPL
BPTF
FASN
FDXR
FOXJ1
GAA
GALK1
GCGR
GH1
GH2
GIP
GNGT2
UTS2R
GPS1
GRB2
GRIN2C
H3F3B
HOXB1
HOXB2
HOXB3
HOXB4
HOXB5
HOXB6
HOXB7
HOXB8
HOXB9
ICAM2
ICT1
FOXK2
ITGA3
ITGB4
KCNJ2
KCNJ16
KPNB1
KPNA2
LGALS3BP
LLGL2
LPO
MAFG
MAP3K3
MPO
TRIM37
NFE2L1
NGFR
NME1
NME2
NPTX1
P4HB
PDE6G
PDK2
PECAM1
PHB
SEPT4
PRKCA
MAP2K6
PRPSAP1
PSMC5
PSMD12
PYCR1
PCYT2
RAC3
RAD51C
RFNG
RPL38
MRPL12
RPS6KB1
SCN4A
SEC14L1
SECTM1
SRSF1
SRSF2
SGCA
SGSH
SMARCD2
SUMO2
SOX9
SP2
SRP68
SSTR2
SUPT4H1
TBCD
TBX2
TIMP2
TK1
TRIM25
VEZF1
COIL
AKAP1
EPX
AXIN2
SPOP
PPM1D
DGKE
CBX4
SKAP1
DNAH17
ABCC3
RGS9
GALR2
SPHK1
CACNA1G
SOCS3
SPAG9
MTMR4
SLC16A6
SLC16A5
SLC16A3
SYNGR2
HGS
NOG
BZRAP1
CYTH1
SLC9A3R1
COG1
RECQL5
PGS1
TBX4
NPEPPS
AATK
TBKBP1
KIAA0195
EIF4A3
MRC2
HELZ
MED13
TOM1L1
TOB1
ALYREF
SLC35B1
DCAF7
CALCOCO2
ABCA10
ABCA9
ABCA8
BAIAP2
ATP5H
HOXB13
APPBP2
ST6GALNAC2
IGF2BP1
GNA13
SEPT9
CD300C
CBX1
RAB40B
TLK2
KAT7
POLG2
NXPH3
SNF8
CD300A
TMC6
DDX42
ZNF652
PPM1E
ARSG
AZI1
GGA3
JMJD6
EXOC7
ABCA6
ABCA5
KCTD2
MMD
WBP2
CDC42EP4
FSCN2
NOL11
TANC2
NAT9
PITPNC1
NARF
OR4D1
CACNG5
CACNG4
SAP30BP
SNX11
TBX21
NT5C
CDR2L
MRPS7
UTP18
RNFT1
HN1
TUBD1
DCXR
TACO1
ABI3
COPZ2
MRPL27
AMZ2
ANAPC11
SIRT7
MRPS23
PTRH2
LUC7L3
SDK2
FAM20A
MBTD1
BCAS3
TMEM104
RNF43
MKS1
LINC00483
C17orf80
CCDC40
EPN3
WIPI1
PNPO
SMG8
TMEM100
RSAD1
LRRC59
MSX2P1
NPLOC4
PRR11
ST6GALNAC1
TEX2
GPRC5C
TEX14
WDR45L
CA10
CCDC47
CBX8
MIF4GD
INTS2
CASKIN2
RPTOR
BAHCC1
USP36
RNF213
TNRC6C
PCTP
SCPEP1
SLC25A19
UBE2O
HEATR6
DUS1L
FN3K
XYLT2
DNAI2
SMURF2
ENGASE
SPATA20
MRPL38
UBE2Z
CARD14
MFSD11
PRR15L
C17orf62
ARMC7
CHMP6
RHBDF2
DHX40
FN3KRP
C17orf101
ZNF750
NUP85
MYO15B
ACSF2
C17orf70
CDK5RAP3
SP6
LIMD2
KCNH6
FAM117A
VMP1
TSPAN10
MYCBPAP
QRICH2
PRAC
KIF2B
USP32
PPP1R9B
CBX2
FAM104A
MGC16275
FBF1
UNK
LRRC46
SCRN2
CEP95
TRIM47
ANKRD40
STRADA
C17orf72
MAFG-AS1
OTOP2
TTYH2
CYGB
RNF157
OSBPL7
C1QTNF1
PPP1R27
FTSJ3
METTL23
HSF5
OR4D2
SLC38A10
USH1G
CD300LB
KIF19
C17orf64
WFIKKN2
FLJ40194
B4GALNT2
MRPL10
TBC1D16
AFMID
DYNLL2
MGAT5B
C17orf56
B3GNTL1
RBFOX3
CD300LF
C17orf77
TCAM1P
EFCAB3
LOC146880
EME1
NOTUM
TMC8
ANKFN1
MARCH10
TMEM92
PHOSPHO1
CEP112
SAMD14
STRA13
LRRC45
SLC39A11
AMZ2P1
TRIM65
UNC13D
MTVR2
STXBP4
LOC253962
TAC4
MYADML2
NPB
LINC00469
FADS6
C17orf28
TSEN54
FAM100B
TMEM235
CCDC57
HEXDC
C17orf58
MILR1
TTLL6
LOC284080
C17orf47
SLC26A11
ENDOV
GDPD1
C17orf89
LINC00482
TMEM105
METRNL
RAB37
METTL2A
C17orf67
ENPP7
C17orf90
CCDC137
ARL16
CD300E
NACA2
OTOP3
SKA2
FAM195B
GPR142
ZACN
HOXB13-AS1
HILS1
LRRC37A3
RNF126P1
YPEL2
C17orf82
BTBD17
AATK-AS1
FLJ43681
LOC400604
KCNJ2-AS1
LINC00511
LOC400620
FLJ45079
TEX19
CUEDC1
LOC404266
MIR10A
MIR142
MIR152
MIR196A1
MIR21
MIR301A
MXRA7
TBC1D3P2
PLEKHM1P
LOC440461
FLJ90757
MIR338
CPSF4L
C17orf109
LOC645638
TBC1D3P1-DHX40P1
LOC653653
NME1-NME2
LINC00338
SCARNA20
SCARNA16
SNORA76
SNORD1A
SNORD1B
SNORD1C
SNORD104
MIR634
MIR635
MIR636
MIR657
FLJ45513
LOC729683
PRCD
MIR454
SNORA38B
C17orf110
LOC100131096
CD300LD
TEN1
C17orf99
LOC100287042
LOC100294362
MIR1203
MIR1250
MIR4316
MIR3065
MIR548W
MIR3186
MIR4315-2
MIR3185
MIR4315-1
LOC100499466
LOC100499467
MIR3614
MIR3678
MIR3615
LOC100506650
LOC100506779
LOC100507218
LOC100507246
LOC100507351
LOC100507410
TEN1-CDK3
MIR4739
MIR4729
MIR4737
MIR4736
MIR4738
MIR4740
MIR4524A
MIR4730
MIR3064
MIR5047
LOC100653515

Figure 2.  Genomic positions of deleted regions: the X-axis represents the normalized deletion signals (top) and significance by Q value (bottom). The green line represents the significance cutoff at Q value=0.25.

Table 2.  Get Full Table Deletions Table - 12 significant deletions found. Click the link in the last column to view a comprehensive list of candidate genes. If no genes were identified within the peak, the nearest gene appears in brackets.

Cytoband Q value Residual Q value Wide Peak Boundaries # Genes in Wide Peak
9p21.3 3.4534e-16 3.4534e-16 chr9:21555227-22448737 5
11q24.3 0.002248 0.002248 chr11:105874594-135006516 279
16q12.1 0.011674 0.011453 chr16:31722415-65161093 139
10p15.1 0.02152 0.02152 chr10:1-5407870 28
2q37.3 0.022323 0.022323 chr2:233898418-243199373 104
1p36.31 0.047176 0.11419 chr1:1-9908481 161
3q23 0.12958 0.12958 chr3:94639769-150922637 374
1p13.2 0.13034 0.13034 chr1:101698916-149920615 251
13q34 0.13034 0.13034 chr13:95351823-115169878 104
14q23.3 0.14251 0.14366 chr14:50572489-104154469 499
10q24.33 0.19712 0.19712 chr10:59063766-135534747 619
6q23.2 0.24092 0.25082 chr6:1-171115067 1218
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 9p21.3.

Table S8.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
CDKN2A
CDKN2B
MTAP
C9orf53
CDKN2B-AS1
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 11q24.3.

Table S9.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
ATM
CBL
DDX6
DDX10
FLI1
MLL
PAFAH1B2
POU2AF1
SDHD
PCSK7
ARHGEF12
hsa-mir-3167
hsa-mir-100
hsa-mir-4301
hsa-mir-34c
ACAT1
ACRV1
APLP2
APOA1
APOA4
APOC3
ARCN1
FXYD2
CXCR5
CD3D
CD3E
CD3G
CHEK1
CRYAB
DLAT
DPAGT1
DRD2
ETS1
FDX1
SLC37A4
GRIK4
GUCY1A2
H2AFX
HMBS
HSPA8
HSPB2
HTR3A
IL10RA
IL18
STT3A
KCNJ1
KCNJ5
VWA5A
MCAM
NCAM1
NFRKB
NNMT
NPAT
NRGN
OPCML
PPP2R1B
PTS
PVRL1
RDX
RPS25
SC5DL
SCN2B
SCN4B
ST3GAL4
SLN
SORL1
SRPR
ST14
TAGLN
TECTA
THY1
UPK2
ZBTB16
ZNF202
CUL5
BARX2
ZNF259
USP2
HTR3B
ZW10
UBE4A
EI24
FEZ1
ARHGAP32
C2CD2L
RBM7
MPZL2
HYOU1
ATP5L
ADAMTS8
TREH
CEP164
IGSF9B
EXPH5
PHLDB1
SIK2
NCAPD3
SIK3
VSIG2
BACE1
TRIM29
CADM1
POU2F3
HINFP
REXO2
OR8G2
OR8B8
OR8G1
TIMM8B
OR8B2
ACAD8
B3GAT1
DCPS
ZBTB44
THYN1
DDX25
NTM
CDON
SIDT2
TRAPPC4
SPA17
FXYD6
SIAE
C11orf71
ROBO4
SLC35F2
RAB39A
BTG4
FAM55D
TTC12
C11orf57
ELMOD1
FOXRED1
SCN3B
VPS11
TEX12
CRTAM
TMPRSS4
IFT46
PRDM10
DSCAML1
GRAMD1B
ARHGAP20
USP28
AASDHPPT
PKNOX2
TP53AIP1
ABCG4
ROBO3
C11orf1
RNF26
FAM118B
NLRX1
C11orf61
ALG9
CLMP
PDZD3
C11orf63
CCDC15
TMPRSS5
PUS3
MFRP
JAM3
BCO2
TMPRSS13
KIAA1826
KIRREL3
BUD13
TMEM25
RPUSD4
TBRG1
UBASH3B
DIXDC1
ZC3H12C
GLB1L2
ESAM
ALKBH8
FDXACB1
C11orf52
VPS26B
GLB1L3
TIRAP
C1QTNF5
PANX3
APOA5
TMEM45B
C11orf93
PIH1D2
FAM55A
FAM55B
AMICA1
KBTBD3
CWF19L2
KDELC2
LAYN
TTC36
PATE1
C11orf65
ADAMTS15
MPZL3
C11orf45
HYLS1
TMEM218
SLC37A2
OR8B12
OR8G5
OR10G8
OR10G9
OR10S1
OR6T1
OR4D5
TBCEL
TMEM136
SPATA19
HEPACAM
OAF
ANKK1
RNF214
LOC283143
BCL9L
FOXR1
CCDC153
OR8D1
OR8D2
OR8B4
KIRREL3-AS3
LOC283174
LOC283177
CCDC84
TMEM225
OR8D4
C11orf53
LOC341056
C11orf34
BSX
OR6X1
OR6M1
OR10G4
OR10G7
OR8B3
OR8A1
C11orf87
C11orf92
C11orf88
MIR100HG
PATE2
PATE4
FLJ39051
SNX19
MIRLET7A2
MIR100
MIR125B1
MIR34B
MIR34C
BLID
LINC00167
HEPN1
LOC643923
CLDN25
LOC649133
RPL23AP64
LOC100128239
LOC100132078
PATE3
LOC100288346
BACE1-AS
MIR4301
MIR3167
LOC100499227
MIR3656
LOC100507392
LOC100526771
HSPB2-C11orf52
FXYD6-FXYD2
MIR4697
MIR4493
MIR4491
MIR4492
LOC100652768
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 16q12.1.

Table S10.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
CDH11
CYLD
HERPUD1
hsa-mir-138-2
hsa-mir-3181
hsa-mir-1826
ADCY7
AMFR
BBS2
CBLN1
CDH8
CES1
CETP
CNGB1
CSNK2A2
GNAO1
GOT2
KIFC3
MMP2
MMP15
MT1A
MT1B
MT1E
MT1F
MT1G
MT1H
MT1JP
MT1M
MT1L
MT1X
MT2A
MT3
PHKB
POLR2C
RBL2
SALL1
CCL17
CCL22
CX3CL1
SIAH1
SLC6A2
SLC12A3
GPR56
N4BP1
NUP93
IRX5
DNAJA2
KATNB1
ZNF267
NUDT21
CNOT1
ZNF423
RPGRIP1L
ARL2BP
ORC6
TP53TG3
DKFZP434H168
TOX3
CCDC113
C16orf80
BRD7
PLLP
CES1P1
LPCAT2
HEATR3
SLC38A7
OGFOD1
DOK4
VPS35
COQ9
CIAPIN1
ZNF319
NOD2
PAPD5
AKTIP
GINS3
NDRG4
FTO
IRX6
IRX3
C16orf57
SHCBP1
SETD6
FAM192A
CHD9
ITFG1
NETO2
LONP2
NLRC5
CCDC135
CAPNS2
MT4
GPT2
ABCC11
NKD1
RSPRY1
MYLK3
CCDC102A
ABCC12
C16orf78
ANKRD26P1
ZNF720
SNX20
LOC146481
CPNE2
GPR114
PRSS54
CES5A
GPR97
CNEP1R1
LOC283856
LOC283914
MT1DP
TEPP
SLC6A10P
C16orf87
LOC388276
LOC390705
CES1P2
FLJ26245
MIR138-2
HERC2P4
UBE2MP1
LOC643714
LOC643802
CRNDE
MT1IP
LOC644649
LINC00273
TP53TG3C
SNORA46
SNORA50
LOC729264
TP53TG3B
LOC100130700
MIR3935
LOC100505619
LOC100507577
MIR548AE2
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 10p15.1.

Table S11.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
ADARB2
AKR1C4
KLF6
AKR1C1
AKR1C2
IDI1
PFKP
AKR1C3
PITRM1
ZMYND11
WDR37
DIP2C
LARP4B
GTPBP4
IDI2-AS1
AKR1E2
IDI2
LOC282980
LOC338588
AKR1CL1
TUBB8
tAKR
LINC00200
LOC399708
C10orf108
ADARB2-AS1
LOC100216001
LOC100507034
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 2q37.3.

Table S12.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
hsa-mir-3133
hsa-mir-149
hsa-mir-4269
AGXT
KIF1A
BOK
COL6A3
DTYMK
GBX2
GPC1
GPR35
HDLBP
INPP5D
NDUFA10
SEPT2
PDCD1
PPP1R7
SAG
SPP2
DGKD
PER2
LRRFIP1
HDAC4
FARP2
ARL4C
RAMP1
STK25
COPS8
CAPN10
PASK
ATG4B
SH3BP4
SNED1
TRAF3IP1
ANO7
PRLH
THAP4
ANKMY1
SCLY
ASB1
UGT1A10
UGT1A8
UGT1A7
UGT1A6
UGT1A5
UGT1A9
UGT1A4
UGT1A1
UGT1A3
ATG16L1
USP40
HJURP
HES6
CXCR7
RNPEPL1
GAL3ST2
RAB17
TRPM8
MLPH
IQCA1
C2orf54
ILKAP
ING5
MGC16025
AGAP1
TWIST2
NEU4
MTERFD2
UBE2F
OTOS
MYEOV2
OR6B3
LOC150935
LOC151171
LOC151174
MSL3P1
LOC200772
CXXC11
DUSP28
ESPNL
RBM44
AQP12A
KLHL30
OR6B2
ASB18
FLJ43879
MIR149
DNAJB3
LOC643387
PRR21
AQP12B
SCARNA6
SCARNA5
D2HGDH
LOC728323
PP14571
LOC100286922
BOK-AS1
MIR4269
UBE2F-SCLY
MIR2467
MIR4440
MIR4786
MIR4441
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 1p36.31.

Table S13.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
RPL22
TNFRSF14
PRDM16
hsa-mir-34a
hsa-mir-4252
hsa-mir-551a
hsa-mir-4251
hsa-mir-429
hsa-mir-1302-2
RERE
CA6
CDK11B
DFFB
DVL1
MEGF6
ENO1
GABRD
GNB1
ZBTB48
TNFRSF9
PEX10
PIK3CD
PRKCZ
SCNN1D
SKI
SLC2A5
TP73
TNFRSF4
MMP23B
MMP23A
KCNAB2
TNFRSF25
TNFRSF18
PER3
VAMP3
H6PD
ISG15
PLCH2
CEP104
KLHL21
SLC35E2
UTS2
RER1
PARK7
ACOT7
CLSTN1
CAMTA1
ICMT
CHD5
NOC2L
OR4F3
ARHGEF16
SSU72
WRAP73
SLC45A1
SDF4
ERRFI1
MXRA8
HES2
CPSF3L
C1orf159
AURKAIP1
MRPL20
ATAD3A
PANK4
DNAJC11
AJAP1
TP73-AS1
PLEKHG5
LRRC47
HES4
VWA1
NADK
MMEL1
OR4F5
NOL9
LINC00115
MORN1
GPR157
SPSB1
GLTPD1
TAS1R1
OR4F16
CCNL2
ESPN
TAS1R3
ATAD3B
PLEKHN1
SLC25A33
C1orf170
KIAA1751
THAP3
LOC115110
ACAP3
UBE2J2
PUSL1
B3GALT6
TPRG1L
FAM213B
ACTRT2
MIB2
SAMD11
LOC148413
PHF13
CCDC27
SLC2A7
CALML6
TMEM201
C1orf86
ATAD3C
LOC254099
TTLL10
NPHP4
FAM41C
LOC284661
C1orf174
KLHL17
TMEM240
TMEM52
AGRN
GPR153
FAM132A
HES5
LOC388588
RNF207
HES3
RNF223
MIR200A
MIR200B
MIR34A
FLJ42875
ANKRD65
MIR429
FAM138F
LOC643837
TMEM88B
C1orf233
C1orf200
FAM138A
WASH7P
MIR551A
CDK11A
SLC35E2B
LOC728716
LOC729737
OR4F29
LOC100129534
LOC100130417
LOC100132062
LOC100132287
LOC100133331
LOC100133445
LOC100133612
DDX11L1
TTC34
LOC100288069
MIR4251
MIR4252
ENO1-AS1
MIR4689
MIR4417
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 3q23.

Table S14.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
FOXL2
CBLB
GATA2
RPN1
TFG
hsa-mir-1280
hsa-mir-548i-1
hsa-mir-544b
hsa-mir-198
hsa-mir-568
hsa-mir-567
ACPP
ADCY5
ADPRH
AGTR1
ALCAM
ATP1B3
ATP6V1A
ATR
CASR
CD80
CD86
CD47
COL8A1
CP
CPA3
CPB1
CPOX
CSTA
DRD3
EPHB1
GAP43
GOLGB1
GP9
GPR15
GSK3B
GTF2E1
GYG1
HCLS1
HGD
ITGB5
KPNA1
LSAMP
TM4SF1
MCM2
CD200
MYLK
NCK1
NDUFB4
PCCB
PFN2
PIK3CB
PLOD2
PLS1
PLSCR1
PLXNA1
PPP2R3A
RASA2
RBP1
RBP2
RHO
RPL24
RYK
SIAH2
SLC15A2
SLCO2A1
HLTF
TF
TFDP2
TM4SF4
TRH
TRPC1
UPK1B
UMPS
CLRN1
ZIC1
CNBP
ZNF80
ZNF148
RAB7A
SOX14
BFSP2
RUVBL1
B4GALT4
SNX4
NR1I2
MBD4
H1FX
KALRN
COPB2
CHST2
STXBP5L
RNF7
GUCA1C
IQCB1
DZIP3
TSC22D2
TOMM70A
COX17
CD96
STAG1
ST3GAL6
POLQ
ALDH1L1
PDIA5
TOPBP1
HHLA2
FSTL1
MRPL3
FILIP1L
RNF13
MGLL
MRAS
COPG
MYH15
TMCC1
PLXND1
DNAJC13
U2SURP
C3orf27
ANAPC13
ARMC8
C3orf17
ABI3BP
WWTR1
PVRL3
ZBTB20
OR5K1
OR5H1
FAM162A
PCOLCE2
SEC22A
NPHP3
ATP2C1
ZBTB11
MORC1
SERP1
ACAD9
ASTE1
KLF15
GTPBP8
TAGLN3
GPR171
SEC61A1
PIK3R4
PODXL2
TRAT1
IMPG2
COMMD2
A4GNT
DBR1
CLDN18
TIMMDC1
PLA1A
AMOTL2
CCRL1
RAB6B
SELT
FBXO40
IL20RB
SEMA5B
XRN1
WDR5B
PARP14
GRAMD1C
ROPN1
SIDT1
RG9MTD1
SLC41A3
SLC35A5
TMEM45A
IFT57
MSL2
FAIM
SLC25A36
DPPA4
TMEM39A
ABHD10
CDV3
IFT122
TBC1D23
WDR52
EAF2
CLDND1
MUC13
C3orf37
MRPS22
NIT2
POGLUT1
BBX
PLSCR2
PLSCR4
PCNP
SENP7
ISY1
HEG1
KIAA1257
ARHGAP31
KIAA1407
KIAA1524
SRPRB
BPESC1
EEFSEC
CLSTN2
POPDC2
NFKBIZ
ATG3
CCDC14
TMEM108
OR5H6
OR5H2
ZXDC
ZBED2
CEP97
HSPBAP1
C3orf52
QTRTD1
CCDC48
NEK11
UBA5
C3orf36
NAA50
CEP63
CEP70
ABTB1
TMEM22
OR5AC2
PARP9
ESYT3
EIF2A
ARL6
ZIC4
ACAD11
CHCHD6
C3orf26
HPS3
SLC12A8
RETNLB
CCDC54
MINA
GPR128
DIRC2
C3orf15
PHLDB2
LOC90246
C3orf25
BOC
FAM55C
SPSB4
ACPL2
TXNRD3
OSBPL11
LRRC58
TM4SF18
CLRN1-AS1
CPNE4
CCDC58
ZPLD1
CD200R1
DCBLD2
TPRA1
UROC1
FAM194A
NUDT16
COL6A6
GRK7
FAM172BP
RPL32P3
H1FOO
PISRT1
DTX3L
LOC151658
DPPA2
CCDC80
BTLA
ROPN1B
C3orf22
SPICE1
NUDT16P1
LOC152225
IGSF11
C3orf30
PARP15
DNAJB8
GPR156
CHST13
KBTBD12
DZIP1L
ALG1L
GABRR3
PTPLB
TIGIT
C3orf58
KIAA2018
ZBTB38
ZDHHC23
LOC255025
NUP210P1
COL6A5
GK5
PLCXD2
GCET2
LSAMP-AS3
SLC9A9
LOC285205
EPHA6
DNAJB8-AS1
RABL3
SLC9A10
LOC285359
ILDR1
TRIM42
RAB43
KY
LOC339874
H1FX-AS1
LOC344595
TMPRSS7
CD200R1L
PAQR9
NME9
LNP1
CCDC37
NPHP3-AS1
NMNAT3
PRR23B
PRR23C
PLSCR5
ANKUB1
FLJ22763
FLJ25363
C3orf72
OR5K2
OR5H14
OR5H15
OR5K3
OR5K4
MIR198
ARGFX
TMEM30C
ALG1L2
TXNRD3NB
COL6A4P2
LOC646903
LOC653712
LINC00488
SNORA7B
SNORA58
MIR548A3
MIR567
MIR568
FAM86HP
PRR23A
LOC100009676
LOC100125556
WWTR1-AS1
LOC100129550
ZBTB20-AS1
LOC100289361
MIR1280
MIR548I1
LOC100302640
MIR548G
MIR3921
PVRL3-AS1
IGSF11-AS1
MYLK-AS1
LOC100507032
LOC100507389
NPHP3-ACAD11
ISY1-RAB43
MIR4796
MIR4788
MIR4446
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 1p13.2.

Table S15.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
BCL9
NOTCH2
NRAS
PDE4DIP
TRIM33
RBM15
hsa-mir-3118-3
hsa-mir-3118-2
hsa-mir-3118-1
hsa-mir-942
hsa-mir-320b-1
hsa-mir-4256
hsa-mir-197
ADORA3
ALX3
AMPD1
AMPD2
AMY1A
AMY1B
AMY1C
AMY2A
AMY2B
RHOC
ATP1A1
ATP5F1
CAPZA1
CASQ2
CD2
CD53
CD58
CHI3L2
COL11A1
CSF1
S1PR1
CELSR2
FCGR1A
FCGR1B
FMO5
GJA5
GJA8
GNAI3
GNAT2
GSTM1
GSTM2
GSTM3
GSTM4
GSTM5
HMGCS2
HSD3B1
HSD3B2
IGSF3
KCNA2
KCNA3
KCNA10
KCNC4
KCND3
MOV10
NGF
NHLH2
OVGP1
PDZK1
PRKAB2
PSMA5
PTGFRN
RAP1A
SORT1
SARS
SLC16A1
STXBP3
SYCP1
TAF13
TBX15
TSHB
WNT2B
CSDE1
HIST2H2AA3
HIST2H2AC
HIST2H2BE
HIST2H4A
TTF2
ITGA10
PEX11B
SLC16A4
CD101
SEC22B
CHD1L
LRIG2
SV2A
RBM8A
TSPAN2
SF3B4
BCAS2
WARS2
CEPT1
PIAS3
VAV3
HBXIP
POLR3C
TXNIP
AP4B1
PHTF1
AHCYL1
WDR3
MTMR11
MAN1A2
ADAM30
CD160
DDX20
NTNG1
WDR47
CLCC1
NBPF14
PTPN22
PHGDH
CHIA
RNF115
GPSM2
SLC25A24
BOLA1
HAO2
ACP6
GPR89B
RSBN1
GDAP2
FAM46C
ST7L
PRPF38B
PRMT6
SLC22A15
RNPC3
LRIF1
CTTNBP2NL
FAM212B
TMEM167B
OLFML3
FAM91A2
AMIGO1
KIAA1324
DCLRE1B
WDR77
EPS8L3
VTCN1
DENND2D
SIKE1
TRIM45
VANGL1
GPR61
REG4
POLR3GL
PROK1
PSRC1
ATP1A1OS
FAM40A
ZNF697
DNAJA1P5
HENMT1
GNRHR2
OLFM3
MAB21L3
HIST2H3C
ATXN7L2
C1orf194
LIX1L
HSD3BP4
DRAM2
C1orf88
C1orf162
SYT6
NBPF4
HFE2
ANKRD35
RP11-165H20.1
DENND2C
FNDC7
PPIAL4A
UBL4B
PDIA3P
NBPF11
NUDT17
SPAG17
HIPK1
AKR7A2P1
AKNAD1
MAGI3
FAM19A3
NBPF15
FAM102B
SYPL2
CYB561D1
ANKRD34A
HIST2H2AB
PPM1J
HIST2H3A
HIST2H2BC
HIST2H2BA
MYBPHL
NBPF7
LOC375010
SLC6A17
NOTCH2NL
FLJ39739
LOC388692
NBPF9
MIR197
LOC440600
BCL2L15
HIST2H2BF
PGCP1
HIST2H4B
SRG7
CYMP
LOC643441
LOC644242
PPIAL4G
PPIAL4D
LOC645166
EMBP1
SRGAP2P2
LOC648740
NBPF6
PPIAL4B
LOC653513
GPR89A
PPIAL4C
HIST2H3D
FAM72B
SCARNA2
HIST2H2AA4
FAM72D
LOC728855
LOC728875
NBPF24
GPR89C
NBPF16
PDZK1P1
PPIAL4F
LOC728989
PPIAL4E
PFN1P2
MIR942
LOC100129138
LOC100129269
LOC100130000
NBPF10
FCGR1C
LOC100286793
LOC100287722
LOC100289211
MIR320B1
MIR4256
LOC100506343
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 13q34.

Table S16.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
ERCC5
hsa-mir-1267
hsa-mir-4306
hsa-mir-623
hsa-mir-3170
ATP4B
COL4A1
COL4A2
GPR183
EFNB2
F7
F10
FGF14
GAS6
GPR18
ING1
IPO5
LAMP1
LIG4
PCCA
DNAJC3
RAP2A
GRK1
SLC10A2
SLC15A1
SOX1
TFDP1
TPP2
ZIC2
STK24
CUL4A
IRS2
PROZ
ARHGEF7
CDC16
CLDN10
ITGBL1
TM9SF2
MBNL2
FARP1
ABCC4
TUBGCP3
TNFSF13B
SOX21
RASA3
DZIP1
MYO16
ATP11A
MCF2L
DOCK9
OXGR1
BIVM
TMCO3
ARGLU1
DCUN1D2
ANKRD10
RAB20
CARKD
UGGT2
PCID2
UPF3A
KDELC1
CARS2
GRTP1
TMTC4
ABHD13
ZIC5
A2LD1
TEX30
ADPRHL1
TEX29
METTL21CP1
SPACA7
RNF113B
CLYBL
METTL21C
NALCN
HS6ST3
DAOA
DAOA-AS1
FGF14-IT1
LOC283481
LINC00346
CHAMP1
UBAC2
FAM70B
C13orf35
FLJ44054
CCDC168
FLJ41484
MIR623
LINC00460
FAM155A
LINC00552
FKSG29
UBAC2-AS1
MCF2L-AS1
MIR4306
MIR3170
LOC100506394
BIVM-ERCC5
MIR2681
MIR548AN
MIR4705
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 14q23.3.

Table S17.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
KTN1
TSHR
TCL1A
TRIP11
GOLGA5
GPHN
DICER1
TCL6
NIN
BCL11B
hsa-mir-4309
hsa-mir-1247
hsa-mir-656
hsa-mir-370
hsa-mir-345
hsa-mir-342
hsa-mir-3173
hsa-mir-1260
hsa-mir-625
hsa-mir-548h-1
hsa-mir-4308
SERPINA3
ACTN1
ACYP1
ARG2
BDKRB1
BDKRB2
BMP4
ZFP36L1
CALM1
SERPINA6
ENTPD5
CDKN3
FOXN3
CHGA
CKB
DIO2
DIO3
DLST
DYNC1H1
EIF2S1
EIF5
EML1
ERH
ESR2
ESRRB
FNTB
FOS
FUT8
GALC
GCH1
GMFB
GPX2
GSTZ1
GTF2A1
HIF1A
HSPA2
HSP90AA1
IFI27
ITPK1
KLC1
LGALS3
LTBP2
MARK3
MAX
ATXN3
MAP3K9
ALDH6A1
MNAT1
MTHFD1
NDUFB1
SIX6
OTX2
SERPINA5
PGF
SERPINA1
SERPINA4
PIGH
PPM1A
PPP2R5C
PPP2R5E
PRKCH
LGMN
PSEN1
PSMA3
PSMC1
PSMC6
PTGDR
PTGER2
ABCD4
PYGL
RAD51B
MOK
ARID4A
RTN1
SEL1L
SRSF5
SIX1
SLC8A3
SLC10A1
SNAPC1
SOS2
SPTB
STYX
TGFB3
TNFAIP2
TRAF3
VRK1
WARS
YY1
ZBTB25
DPF3
GPR68
GPR65
NUMB
ADAM21
ADAM20
DLK1
CCNK
CDKL1
DCAF5
ALKBH1
EIF2B2
PNMA1
RPS6KA5
NRXN3
AKAP5
SPTLC2
BAG5
CDC42BPB
TCL1B
RGS6
KIAA0247
KIAA0586
DLGAP5
KIAA0317
TECPR2
MED6
CNIH
VTI1B
FBLN5
BATF
NPC2
AHSA1
EXOC5
CGRRF1
CYP46A1
PAPOLA
ACOT2
TMED10
FERMT2
PTPN21
C14orf1
WDHD1
MAP4K5
NID2
VASH1
ATG14
ZBTB1
SNW1
PCNX
DAAM1
SAMD4A
TTLL5
RCOR1
SYNE2
ANGEL1
ZFYVE26
TTC9
FLRT2
PLEKHG3
SIPA1L1
DCAF4
C14orf109
PLEK2
TIMM9
MLH3
ATP5S
KCNH5
PRO1768
POMT2
ERO1L
COQ6
ATL1
FCF1
RDH11
SERPINA10
GLRX5
COX16
DACT1
ATP6V1D
EVL
C14orf129
JKAMP
CINP
DHRS7
C14orf166
ASB2
SIX4
ZFYVE1
CPSF2
KCNK10
GNG2
C14orf101
FBXO34
C14orf102
ATG2B
UBR7
C14orf105
EXD2
VRTN
SYNJ2BP
SLC39A9
MEG3
FLVCR2
C14orf118
SMEK1
BTBD7
MUDENG
TDP1
ZNF839
SPATA7
ACTR10
YLPM1
KCNK13
C14orf162
C14orf132
DDX24
ADCK1
TMEM63C
PELI2
RHOJ
GALNTL1
PLEKHH1
TXNDC16
TRMT5
UNC79
BEGAIN
PPP4R4
ZNF410
NGB
RBM25
SAV1
C14orf133
SMOC1
MOAP1
DIO3OS
IRF2BPL
MPP5
C14orf135
GPR135
GNPNAT1
OTUB2
MEG8
WDR25
METTL21D
LINC00341
ZC2HC1C
C14orf169
CLMN
CATSPERB
ZC3H14
RIN3
L2HGDH
C14orf159
C14orf45
DDHD1
SGPP1
TMX1
AMN
SLIRP
DNAL1
RPS6KL1
SYT16
IFI27L2
SETD3
APOPT1
HHIPL1
C14orf142
STON2
KIAA1737
PAPLN
FAM181A
EFCAB11
CHURC1
C14orf43
LIN52
NEK9
EXOC3L4
WDR20
MAPK1IP1L
IFT43
WDR89
C14orf149
TRIM9
TRMT61A
ANKRD9
AK7
IFI27L1
FRMD6
SOCS4
NAA30
GPHB5
NOXRED1
JDP2
ISCA2
ACOT4
TTC8
TC2N
SLC24A4
SLC25A29
DEGS2
LINC00239
RDH12
ADAM21P1
GSC
SERPINA12
PRIMA1
PPP1R36
SLC38A6
C14orf37
FRMD6-AS1
ABHD12B
LOC145474
PTGR2
FAM161B
C14orf166B
ISM2
CEP128
TTC7B
FAM71D
TMEM229B
C14orf49
TMEM30B
SAMD15
EML5
LINC00521
SERPINA11
LOC283553
GPR137C
PROX2
ZDHHC22
TMED8
C14orf178
LOC283585
LOC283587
FAM181A-AS1
SNHG10
C14orf177
SLC25A47
LINC00523
C14orf55
C14orf39
CCDC85C
ITPK1-AS1
SNORD56B
SERPINA9
VSX2
SLC35F4
COX8C
RAB15
FLJ31306
TBPL2
TOMM20L
SERPINA13
C14orf64
RTL1
HEATR4
FLJ22447
PLEKHD1
LOC400236
LOC400238
DICER1-AS1
MIR127
MIR134
MIR136
MIR154
MIR299
LINC00238
CCDC88C
TEX21P
MIR323A
MIR337
MIR345
MIR376C
MIR369
MIR376A1
MIR377
MIR379
MIR380
MIR381
MIR382
MIR433
MIR431
MIR329-1
MIR329-2
MIR323B
MIR409
MIR412
MIR410
MIR376B
MIR485
MIR493
MIR432
MIR494
MIR495
MIR496
MIR487A
ACOT1
ACOT6
LOC645431
RPL13AP3
LINC00520
FLJ43390
SYNDIG1L
MIR539
MIR376A2
MIR487B
SCARNA13
SNORA28
SNORA79
MIR411
MIR654
MIR655
MIR656
C14orf38
LOC731223
SNORD113-1
SNORD113-2
SNORD113-4
SNORD113-5
SNORD113-6
SNORD113-7
SNORD113-9
SNORD114-1
SNORD114-2
SNORD114-3
SNORD114-4
SNORD114-5
SNORD114-6
SNORD114-7
SNORD114-8
SNORD114-9
SNORD114-10
SNORD114-11
SNORD114-12
SNORD114-13
SNORD114-14
SNORD114-15
SNORD114-16
SNORD114-17
SNORD114-18
SNORD114-19
SNORD114-20
SNORD114-21
SNORD114-22
SNORD114-23
SNORD114-24
SNORD114-25
SNORD114-26
SNORD114-27
SNORD114-28
SNORD114-29
SNORD114-30
SNORD114-31
MIR758
MIR668
MIR770
SNORA11B
MIR300
MIR541
MIR665
MIR543
MIR889
KTN1-AS1
LOC100129345
LOC100131366
LOC100289511
MIR1247
MIR1185-1
MIR1185-2
MIR1260A
MIR1197
OTX2OS1
MIR1193
MIR4309
MIR3173
MIR4308
LOC100506321
LOC100507043
SYNJ2BP-COX16
CHURC1-FNTB
MIR4505
MIR4708
MIR4709
MIR4706
MIR2392
LOC100628307
HIF1A-AS2
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 10q24.33.

Table S18.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
BMPR1A
FGFR2
TLX1
NFKB2
PRF1
PTEN
DUX4
SUFU
hsa-mir-202
hsa-mir-378c
hsa-mir-4297
hsa-mir-4296
hsa-mir-2110
hsa-mir-4295
hsa-mir-548e
hsa-mir-609
hsa-mir-936
hsa-mir-1307
hsa-mir-146b
hsa-mir-3158-1
hsa-mir-608
hsa-mir-1287
hsa-mir-607
hsa-mir-3157
hsa-mir-107
hsa-mir-346
hsa-mir-606
hsa-mir-1254
hsa-mir-1296
ACADSB
ACTA2
ADAM8
ADD3
ADK
ADRA2A
ADRB1
ANK3
ANXA2P3
ANXA7
ANXA11
FAS
ARL3
BNIP3
CAMK2G
CASP7
ENTPD1
CDK1
CHUK
ABCC2
COL13A1
COL17A1
COX15
CPN1
CTBP2
CYP2C19
CYP2C8
CYP2C9
CYP2C18
CYP2E1
CYP17A1
CYP26A1
DMBT1
DNA2
DNTT
DOCK1
DUSP5
ECHS1
EGR2
EIF4EBP2
EMX2
FGF8
GFRA1
GLUD1
GOT1
PRLHR
GPR26
GRK5
GRID1
HABP2
HELLS
HHEX
HK1
HMX2
HNRNPH3
HPS1
HTR7
IDE
IFIT2
IFIT1
IFIT3
INPP5A
KCNMA1
KIF11
ABLIM1
LIPA
MAT1A
MGMT
MKI67
MXI1
NDUFB8
NODAL
NRAP
OAT
P4HA1
PAX2
PCBD1
PDE6C
PGAM1
PITX3
PLAU
PNLIP
PNLIPRP1
PNLIPRP2
PPA1
PPP1R3C
PPP3CB
SRGN
HTRA1
PSAP
PSD
PTPRE
ALDH18A1
RBP4
RGR
RGS10
RPS24
SCD
SFRP5
SFTPD
FBXW4
SLC18A2
SLIT1
SNCG
SUPV3L1
TACR2
TAF5
TCF7L2
TECTB
TFAM
TIAL1
TLL2
UBE2D1
UROS
VCL
VDAC2
WNT8B
XPNPEP1
CCDC6
SLC25A16
SHOC2
ADAM12
UTF1
NDST2
MBL1P
LIPF
EIF3A
GBF1
LDB1
SGPL1
BTRC
CH25H
PKD2L1
BTAF1
PAPSS2
INA
PDLIM1
SMC3
NEURL
BUB3
DDX21
LGI1
NOLC1
DLG5
GSTO1
CHST3
BAG3
VPS26A
MINPP1
KIF20B
SEC24C
SH3PXD2A
FAM53B
SLK
SPOCK2
ZNF518A
RHOBTB1
DCLRE1A
FRAT1
PPIF
ACTR1A
SMNDC1
NPM3
MICU1
GLRX3
RPP30
DPYSL4
TACC2
SORBS1
ERLIN1
LBX1
NRG3
MGEA5
TUBGCP2
PRDX3
C10orf116
VAX1
ATE1
POLR3A
LDB3
SEC23IP
ECD
RAB11FIP2
CPEB3
INPP5F
ZNF365
NT5C2
PDCD11
SORCS3
KIAA0913
WAPAL
PPRC1
FAM175B
RRP12
TBC1D12
DNAJC9
DNMBP
FRAT2
SIRT1
KAT6B
TSPAN15
IFIT5
DPCD
SEC31B
NUDT13
ATRNL1
HERC4
C10orf137
LRIT1
TCTN3
KIAA1279
C10orf12
ANKRD2
CNNM1
MYOF
DUX2
AP3M1
ANKRD1
GHITM
KIAA1274
PDCD4
VENTX
C10orf28
POLL
CTNNA3
BLNK
NRBF2
KCNIP2
CUZD1
CALY
NEUROG3
ASCC1
EXOSC1
MRPS16
CALHM2
CUTC
PLCE1
DUSP13
CHST15
ACSL5
PANK1
FAM190B
EXOC6
FAM35A
DDIT4
CCNJ
MARCH5
ZRANB1
TTC40
NSMCE4A
DNAJB12
CNNM2
C10orf26
C10orf118
CRTAC1
CEP55
LRRC20
CWF19L1
SLC29A3
RNLS
PI4K2A
H2AFY2
HIF1AN
RUFY2
WDR11
FAM178A
CCAR1
DHX32
PPP2R2D
CISD1
FAM45B
TDRD1
DNAJC12
BCCIP
C10orf2
SAR1A
TM9SF3
ENTPD7
ZMIZ1
AS3MT
STAMBPL1
GPAM
KIAA1598
FAM160B1
SEMA4G
MYOZ1
PLEKHA1
AVPI1
HPSE2
FAM204A
CDH23
LHPP
PBLD
NPFFR1
C10orf54
MMS19
NOC3L
IKZF5
ZDHHC6
CUEDC2
DDX50
FBXL15
C10orf76
HPS6
MMRN2
TMEM180
MCMBP
SYNPO2L
C10orf95
C10orf81
PDZD7
OBFC1
C10orf88
UBTD1
BICC1
FAM213A
HKDC1
WDR96
TET1
LRRC27
TNKS2
TRIM8
TSPAN14
KAZALD1
SFXN3
SLC25A28
ELOVL3
MARVELD1
C10orf11
PCGF6
ARID5B
LOXL4
ZDHHC16
C10orf58
DYDC2
PCGF5
GPR123
LZTS2
PHYHIPL
LCOR
NKX6-2
MRPL43
AFAP1L2
PLA2G12B
MYPN
PYROXD2
USMG5
ZNF503
AIFM2
ADO
ATAD1
ARHGAP19
LOC84989
KNDC1
ITPRIP
LINC00263
MCU
MTG1
CDHR1
BBIP1
FANK1
OPALIN
SYCE1
OPN4
HOGA1
SORCS1
PRAP1
ZNF511
CHCHD1
ZMYND17
TTC18
C10orf90
BTBD16
FAM24A
PSTK
PIK3AP1
MORN4
ZFYVE27
MMP21
COMTD1
FRA10AC1
ANKRD22
SFXN2
PDZD8
C10orf32
NUDT9P1
AGAP11
GSTO2
SFR1
CALHM3
CTAGE7P
CLRN3
ANAPC16
PNLIPRP3
SFXN4
CPXM2
ADAMTS14
C10orf129
SAMD8
LIPJ
CFL1P1
TRUB1
VTI1A
LOC143188
DYDC1
EIF5AL1
HECTD2
FGFBP3
C10orf82
C10orf46
USP54
NKX2-3
SLC35G1
CCDC147
FUT11
OIT3
C10orf91
PWWP2B
LOC170425
EMX2OS
PPAPDC1A
PAOX
FAM24B
LOC219347
PLAC9
C10orf107
TMEM26
ZCCHC24
UNC5B
STOX1
C10orf35
TYSND1
RTKN2
C10orf27
ATOH7
SLC16A9
FAM13C
REEP3
JMJD1C
ZNF503-AS1
IPMK
EBF3
CALHM1
CASC2
TCERG1L
HSPA12A
PIPSL
C10orf125
JAKMIP3
STK32C
BLOC1S2
RBM20
LOC282997
FLJ37201
C10orf40
LOC283038
LOC283050
LOC283089
FAM149B1
O3FAR1
KCNK18
DUPD1
LIPM
CYP26C1
VWA2
NANOS1
LRIT2
HMX3
LRRTM3
NHLRC2
C10orf96
FLJ46361
SH2D4B
C10orf99
SLC16A12
CC2D2B
ENO4
ARMS2
C10orf122
LOC387723
GUCY2GP
NKX1-2
FLJ41350
C10orf120
LOC399815
METTL10
FLJ37035
FOXI2
FLJ46300
LOC399829
SPRNP1
GOLGA7B
FAM45A
MIR107
C10orf105
C10orf62
C10orf55
C10orf103
LOC439990
LOC439994
IFIT1B
FRG2B
MIR346
SPRN
MIR146B
MIR202
NPS
LOC619207
SNORA19
LOC642361
FAM196A
FAM25A
LIPK
LIPN
LOC643529
RPL13AP6
LOC650623
SFTPA1
DUX4L7
DUX4L6
DUX4L5
DUX4L3
SNORA12
SNORD98
MIR608
MIR609
FAM22A
FAM22D
LOC728190
LOC728218
DUX4L2
LOC728558
LOC728640
LOC728978
LOC729020
AGAP5
BMS1P4
SFTPA2
TLX1NB
MIR936
C10orf131
LOC100128054
LOC100128292
ZNF503-AS2
LOC100132987
KLLN
LOC100169752
LOC100188947
DNMBP-AS1
LOC100288974
LOC100289509
MIR1287
MIR1296
MIR1256
MIR1307
MIR2110
FAS-AS1
MIR378C
MIR4297
MIR3157
MIR3158-1
MIR4295
MIR3158-2
MIR4296
MIR3924
MIR3941
MIR3663
MIR3944
LOC100505540
LOC100505761
LOC100505839
LOC100505933
M1
LOC100507331
LOC100507470
MARK2P9
C10orf32-AS3MT
ARHGAP19-SLIT1
FAM24B-CUZD1
MIR4680
MIR4679-1
MIR4483
MIR4679-2
MIR4676
MIR4678
MIR4682
MIR4482-1
MIR4484
MIR4681
MIR4685
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 6q23.2.

Table S19.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
PRDM1
CCND3
DAXX
FANCE
HMGA1
IRF4
MLLT4
MYB
PIM1
POU5F1
TRIM27
ROS1
TNFAIP3
DEK
TFEB
STL
HIST1H4I
FGFR1OP
GOPC
hsa-mir-1913
hsa-mir-1202
hsa-mir-1273c
hsa-mir-3145
hsa-mir-548a-2
hsa-mir-588
hsa-mir-3144
hsa-mir-548b
hsa-mir-587
hsa-mir-2113
hsa-mir-4282
hsa-mir-30a
hsa-mir-30c-2
hsa-mir-548u
hsa-mir-133b
hsa-mir-586
hsa-mir-1275
hsa-mir-219-1
hsa-mir-1236
hsa-mir-877
hsa-mir-3143
hsa-mir-548a-1
ABCF1
ACAT2
CRISP1
AGER
AIF1
AIM1
AMD1
ARG1
ATP6V1G2
BAI3
BAK1
BCKDHB
CFB
BMP5
BMP6
DST
BPHL
BTN1A1
BYSL
C2
C4A
C4B
DDR1
RUNX2
CCNC
CDC5L
CDKN1A
CDSN
CGA
CLIC1
CLPS
CCR6
CNR1
COL9A1
COL10A1
COL11A2
COL12A1
COL19A1
COX7A2
ATF6B
MAPK14
CSNK2B
CTGF
CYP21A2
CYP21A1P
DNAH8
DOM3Z
DSP
E2F3
EDN1
EEF1A1
SERPINB1
SLC29A1
EPB41L2
EPHA7
EYA4
ESR1
F13A1
FABP7
FKBP5
FOXF2
FOXC1
FOXO3
FRK
FUCA2
FYN
GABBR1
GABRR1
GABRR2
GCNT2
GJA1
GCLC
GLO1
GLP1R
GMDS
GMPR
GNL1
GPLD1
GPR6
GPR31
GPX5
GRIK2
GRM1
GRM4
GSTA1
GSTA2
GSTA3
GSTA4
GTF2H4
GUCA1A
GUCA1B
HIST1H1C
HIST1H1D
HIST1H1E
HIST1H1B
HIST1H1T
HIST1H2AE
HIST1H2AD
HIST1H2BD
HIST1H2BB
HIST1H1A
HCRTR2
HDAC2
HFE
HIVEP1
HIVEP2
HLA-A
HLA-B
HLA-C
HLA-DMA
HLA-DMB
HLA-DOA
HLA-DOB
HLA-DPA1
HLA-DPB1
HLA-DPB2
HLA-DQA1
HLA-DQA2
HLA-DQB1
HLA-DQB2
HLA-DRA
HLA-DRB1
HLA-DRB5
HLA-DRB6
HLA-E
HLA-F
HLA-G
HLA-H
HLA-J
HLA-L
HSF2
HSPA1A
HSPA1B
HSPA1L
HSP90AB1
HTR1B
HTR1E
ID4
IFNGR1
IGF2R
IL17A
IMPG1
ITPR3
JARID2
KIFC1
KIF25
KPNA5
LAMA2
LAMA4
LPA
LTA
LTB
MARCKS
MAK
MAN1A1
MAS1
MCM3
MDFI
ME1
MEA1
MAP3K4
MAP3K5
MEP1A
MICB
MLN
MOCS1
MOG
MSH5
MUT
MYO6
RPL10A
NEDD9
NEU1
NFKBIE
NFKBIL1
NFYA
NMBR
NQO2
NOTCH4
NT5E
OPRM1
PARK2
PBX2
PCMT1
PDCD2
ENPP1
ENPP3
PEX6
PEX7
PGC
PGK2
PGM3
PHF1
SERPINB6
SERPINB9
PKHD1
PLAGL1
PLG
PLN
POLH
POU3F2
PPARD
PPP1R10
PPP2R5D
PREP
PRIM2
PKIB
MAPK13
PRL
PSMB1
PSMB8
PSMB9
PTK7
PTPRK
RGL2
PRPH2
REV3L
RHAG
RING1
BRD2
RNF5
RNY4
RPS6KA2
RPS10
RPS12
RPS18
RREB1
RXRB
VPS52
ATXN1
SRSF3
SGK1
SIM1
SKIV2L
SLC17A1
SLC22A1
SLC22A3
SLC22A2
SMPD2
SNRPC
SOD2
SOX4
SRF
SRPK1
SSR1
ELOVL4
T
TAF11
MAP3K7
TAP1
TAP2
TAPBP
TBCC
TBP
TCF19
TCF21
TCP1
TCP10
TCP11
TCTE3
PPP1R11
DYNLT1
TEAD3
TFAP2A
TFAP2B
THBS2
NR2E1
TNF
TNXA
TNXB
TPBG
TPD52L1
TPMT
CRISP2
TSPYL1
TTK
TUBB2A
TULP1
UTRN
VARS
VEGFA
EZR
VIP
ZNF76
ZNF165
TRIM26
ZNF184
ZNF187
ZNF192
ZNF193
ZNF204P
PTP4A1
ALDH5A1
PRRC2A
BAG6
GPANK1
DDX39B
ABHD16A
SLC39A7
HSD17B8
OR2H2
RDBP
LST1
PLA2G7
EPM2A
HIST1H2AI
HIST1H2AK
HIST1H2AJ
HIST1H2AL
HIST1H2AC
HIST1H2AB
HIST1H2AM
HIST1H2BG
HIST1H2BL
HIST1H2BN
HIST1H2BM
HIST1H2BF
HIST1H2BE
HIST1H2BH
HIST1H2BI
HIST1H2BC
HIST1H2BO
HIST1H3A
HIST1H3D
HIST1H3C
HIST1H3E
HIST1H3I
HIST1H3G
HIST1H3J
HIST1H3H
HIST1H3B
HIST1H4A
HIST1H4D
HIST1H4F
HIST1H4K
HIST1H4J
HIST1H4C
HIST1H4H
HIST1H4B
HIST1H4E
HIST1H4L
HIST1H4G
STX7
CMAHP
DHX16
SUPT3H
PEX3
GCM1
DDO
RNASET2
KCNK5
STX11
B3GALT4
SNX3
RNGTT
RIPK1
CD164
SYNGAP1
WISP3
STK19
IER3
SYNJ2
VNN2
VNN1
PRPF4B
WASF1
HIST1H3F
HIST1H2AG
HIST1H2BJ
RNF8
TAAR5
MAP7
TBX18
LATS1
GCM2
WDR46
ZBTB22
TAAR2
TAAR3
CD83
HMGN3
PPT2
CDYL
NCR2
MED23
QKI
LY86
FHL5
AKAP7
ATG5
MED20
SLC25A27
TBPL1
EEF1E1
BAG2
POLR1C
MAD2L1BP
WTAP
AKAP12
MDC1
TRAM2
KIAA0408
PHACTR2
FAM65B
ZSCAN12
BCLAF1
CUL7
ZBTB24
KIAA0319
SNAP91
FIG4
NUP153
CASP8AP2
RANBP9
SLC17A4
UST
TRIM10
FLOT1
RCAN2
SLC17A2
HCG9
PRSS16
CRISP3
TRDN
CITED2
BTN3A3
BTN2A2
ECI2
PFDN6
HMGN4
TRIM38
CAP2
SYNCRIP
UBD
AGPAT1
SLC35A1
SCGN
C6orf108
C6orf10
FARS2
FUT9
CNPY3
TRAF3IP2
HBS1L
SLC17A3
RPP40
FRS3
PDE10A
SLC22A7
HCP5
EHMT2
SMPDL3A
APOBEC2
PNRC1
ASCC3
RAB32
TRIM31
KATNA1
BTN3A2
BTN3A1
BTN2A1
CAPN11
BVES
NUDT3
SEC63
NRM
STK38
SCAF8
KIAA1009
ICK
ENPP4
ANKRD6
RIMS1
DOPEY1
ZNF292
FTSJD2
CDK19
CUL9
TAB2
MDN1
TSPYL4
ANKS1A
UBR2
SASH1
SYNE1
UFL1
SIRT5
PHF3
HEY2
DAAM2
KIAA0240
DDAH2
HEBP2
ORC3
CD2AP
BRD7P3
MTCH1
ZNF318
SPDEF
MTO1
ASF1A
YIPF3
USP49
CCDC28A
MTHFD1L
PNISR
IBTK
MOXD1
IPCEF1
ZNF451
SENP6
OR2B6
TIAM2
FBXL4
C6orf123
FAM50B
FBXO9
FBXO5
SLC17A5
OR12D2
OR11A1
RGS17
OR2W1
OR2J2
OR2H1
SNORD52
SNORD50A
SNORD48
PDE7B
FILIP1
BRPF3
GNMT
TNFRSF21
SESN1
TINAG
DLL1
OSTM1
MRPS18B
TMEM14A
MRPL18
NDUFAF4
C6orf15
MYLIP
ABT1
DSE
PRICKLE4
PACSIN1
ZNRD1
CLDN20
NOX3
DEF6
C6orf48
SLC35B3
HDDC2
GMNN
MRPL2
TFB1M
CYB5R4
TUBE1
C6orf203
TBC1D7
NRN1
CYP39A1
CDC40
RWDD1
AIG1
NOL7
SNX9
FAM8A1
UBE2J1
DCDC2
ETV7
TMEM14C
VTA1
LGSN
TDP2
CUTA
PPIL1
BRP44L
HECA
RAB23
COQ3
CLIC5
IL20RA
TREM2
TREM1
UNC93A
HCG4
GFOD1
HMGCLL1
MTRF1L
CCHCR1
GTPBP2
BTN2A3P
AHI1
UHRF1BP1
ELOVL2
CDKAL1
PAK1IP1
RMND1
PHIP
SOBP
AKIRIN2
CENPQ
MRPS18A
MRPS10
LRRC1
PHF10
QRSL1
VNN3
TMEM63B
AKIRIN2-AS1
DDX43
FAM46A
LRRC16A
TBC1D22B
TMEM30A
EXOC2
SAYSD1
C6orf70
LMBRD1
TRERF1
ACOT13
ECHDC1
APOM
BTNL2
KCNQ5
TRIM39
AGPAT4
WRNIP1
DUSP22
TULP4
RARS2
HYMAI
PDSS2
LYRM4
C6orf162
VARS2
GPR126
KIAA1244
NHSL1
LYRM2
SNX14
MRS2
PLEKHG1
ARID1B
LRFN2
AARS2
XPO5
SERINC1
HACE1
FAM135A
TMEM181
ZBTB2
BEND3
KIAA1586
CPNE5
LSM2
C6orf47
LY6G5B
C6orf115
RRAGD
LY6G6D
ENPP5
PRDM13
PBOV1
BACH2
ELOVL5
TRMT11
SMAP1
ZFAND3
SLC22A23
C6orf164
MUTED
CCDC90A
GPSM3
FKBPL
KIF13A
PERP
SMOC2
POPDC3
ZNF323
ALDH8A1
C6orf106
MICAL1
MRPL14
DLK2
LY6G6E
ULBP3
OR2A4
C6orf211
OGFRL1
FAM184A
ZDHHC14
ZNF322
MANEA
ADGB
TREML2
RPP21
LINC00472
ATAT1
FRMD1
AGPAT4-IT1
C6orf208
C6orf97
MYCT1
ZKSCAN3
ULBP2
ULBP1
ZSCAN16
LPAL2
RNF39
SLC44A4
VWA7
C6orf25
LY6G6C
LY6G5C
PRR3
KHDC1
ZNRD1-AS1
PRRT1
EGFL8
HCG4B
GPR63
TXNDC5
COL21A1
C6orf62
OR5V1
OR2B2
PPP1R14C
OR12D3
SPACA1
RNF146
TMEM14B
SF3B5
TAAR8
SH3BGRL2
RIOK1
TFAP2D
KCNK16
RSPH3
TTLL2
DTNBP1
ARMC2
FBXO30
RPF2
MNF1
L3MBTL3
FAM120B
MCHR2
PGBD1
FAXC
FNDC1
TTBK1
GJA10
RTN4IP1
ADTRP
RSPO3
LRP11
LTV1
SERAC1
USP45
REPS1
HIST1H2AH
HIST1H2BK
PPIL4
PAQR8
SLC22A16
RRP36
C6orf7
KCNK17
ABCC10
TRIM15
KLC4
UBE2CBP
MLIP
LINC00473
KIAA1919
TJAP1
ARHGAP18
POM121L2
SYTL3
FOXQ1
GTF3C6
MRAP2
RWDD2A
IL17F
FAM54A
SFT2D1
EFHC1
BTBD9
KLHL32
TMEM200A
SCAND3
MB21D1
FOXP4
KLHDC3
NUS1
C6orf72
SLC26A8
IL22RA2
MAS1L
C6orf192
SLC16A10
IP6K3
TAGAP
TAF8
ADAT2
RIPPLY2
IRAK1BP1
CLVS2
TAAR9
TAAR1
STXBP5
NCOA7
HINT3
PACRG
B3GAT2
C6orf57
CD109
RAET1E
PM20D2
SRSF12
C6orf141
HUS1B
TRIM40
DPCR1
NRSN1
LOC153910
ZC2HC1B
SNRNP48
CNKSR3
RAET1L
SAMD3
MGC34034
SLC2A12
LOC154092
MBOAT1
HDGFL1
PNLDC1
RNF217
NKAIN2
C6orf221
C6orf165
C6orf195
BVES-AS1
LOC154449
CCDC167
PRSS35
LCA5
OLIG3
TXLNB
DACT2
C6orf118
PSORS1C1
PSORS1C2
PPP1R18
PTCRA
OSTCP1
TCTE1
KHDRBS2
TRIM39-RPP21
TUBB
C6orf163
PIP5K1P1
CCDC162P
AKD1
NT5DC1
FAM26D
ZUFSP
FAM162B
C6orf170
BEND6
GSTA5
OPN5
GPR115
GPR116
TDRD6
SPATS1
C6orf223
RSPH9
LRRC73
TREML2P1
LOC221442
C6orf130
KIF6
TMEM217
FGD2
PI16
C6orf89
ARMC12
C6orf1
LEMD2
ZBTB9
ZBTB12
C6orf136
ZSCAN12P1
HIST1H2AA
KDM1B
RBM24
RNF182
PHACTR1
C6orf228
SYCP2L
LINC00518
PXDC1
MGC39372
HS3ST5
GPRC6A
RFX6
SLC35F1
FAM83B
GPR111
TSPO2
UNC5CL
KCTD20
PXT1
LHFPL5
SCUBE3
ZSCAN23
NKAPL
TOB2P1
FAM217A
VGLL2
DEFB110
DEFB112
DEFB113
DEFB114
LACE1
HCG27
C6orf191
MMS22L
WDR27
FAM26E
MCM9
RNF144B
HIST1H2BA
SCML4
GPX6
SHPRH
NCR3
LY6G6F
MDGA1
GPR110
ZNF311
LINC00326
LOC285740
CEP57L1
PPIL6
LOC285758
FLJ34503
DCBLD1
LOC285762
LOC285768
LY86-AS1
CAGE1
LOC285796
PRR18
LOC285819
HLA-F-AS1
HCG22
LOC285847
PNPLA1
TREML4
RPL7L1
RNF5P1
TAAR6
SLC35D3
ZC3H12D
MYLK4
DPPA5
IFITM4P
CLPSL1
TREML1
TREML3
RSPH4A
ECT2L
EYS
ZNF391
ZFP57
TUBB2B
SLC35B2
C6orf52
NUP43
HCG26
C6orf58
RAET1G
KAAG1
GUSBP4
GJB7
NHLRC1
ZKSCAN4
GUSBP2
HMGA1P7
SNHG5
SUMO4
C6orf147
CENPW
C6orf174
LINC00222
CEP85L
C6orf120
VN1R10P
HIST1H2APS1
THEMIS
PSMG4
SFTA2
CLPSL2
C6orf222
GLYATL3
GFRAL
LIN28B
SAMD5
IYD
MUC21
DKFZP686I15217
FLJ23152
LINC00340
LOC401242
MCCD1
SAPCD1
LINC00336
FLJ41649
CRIP3
KLHL31
DKFZp451B082
TCP10L2
LINC00242
DEFB133
C6orf201
GTF2H5
ERVFRD-1
MIR206
MIR219-1
MIR30A
MIR30C2
HCG23
HCG25
HCG18
C6orf226
TMEM151B
OOEP
FAM26F
FLJ46906
LOC441177
OR2B3
OR2J3
OR14J1
OR10C1
ATP6V0CP3
PTCHD4
MCART3P
GSTM2P1
RFPL4B
MIR133B
GGNBP1
HCG11
LOC554223
SNORD101
SNORD100
SNORA33
C6orf225
TSG1
LOC643623
TRAF3IP2-AS1
CTAGE9
LOC645434
RAET1K
C6orf132
RPS16P5
PPP1R3G
MLLT4-AS1
SNORA20
SNORA29
SNORA38
SNORD50B
SNORD32B
SNORD84
SNORD117
MIR548A1
MIR548B
MIR586
LOC728012
TPI1P3
C6orf186
HULC
LOC729176
LOC729177
LOC729178
TMEM242
LOC729603
LOC730101
GSTA7P
TDRG1
TMEM170B
SCARNA27
MIR877
HGC6.3
LOC100128176
BET3L
KHDC1L
LOC100129518
LOC100129636
LOC100130275
LOC100130357
PSORS1C3
LOC100130890
C6orf99
LOC100131047
LOC100131289
LINC00271
LOC100132354
LOC100132735
LINC00240
TOMM6
LOC100270746
LOC100287632
LOC100287718
LOC100288198
LOC100289495
LOC100293534
LOC100294145
NHEG1
MIR1275
MIR1913
MIR2113
MIR1236
MIR548H3
LOC100422737
MIR3143
MIR3145
MIR4282
MIR3918
MIR3939
MIR3668
MIR3662
MIR3925
MIR3692
MIR3691
LOC100506207
LOC100506409
LOC100506804
LOC100507173
LOC100507194
LOC100507203
LOC100507254
LOC100507362
MICA
LOC100507462
LOC100507463
LOC100507489
LOC100507547
LOC100507557
LOC100507584
MUC22
LOC100508120
CAHM
MUTED-TXNDC5
EEF1E1-MUTED
RPS10-NUDT3
MSH5-SAPCD1
ATP6V1G2-DDX39B
PPT2-EGFL8
MIR4464
MIR4647
MIR4466
MIR4643
MIR4641
MIR4465
MIR4646
MIR4640
MIR4639
MIR4645
MIR4642
MIR4462
MIR4644
LOC100652739
Arm-level results

Table 3.  Get Full Table Arm-level significance table - 16 significant results found. The significance cutoff is at Q value=0.25.

Arm # Genes Amp Frequency Amp Z score Amp Q value Del Frequency Del Z score Del Q value
1p 2121 0.30 0.84 0.801 0.17 -0.622 0.992
1q 1955 0.48 3.29 0.0101 0.12 -1.08 0.992
2p 924 0.14 -0.971 0.991 0.11 -1.35 0.992
2q 1556 0.15 -0.944 0.991 0.15 -0.944 0.992
3p 1062 0.21 -0.0711 0.991 0.12 -1.21 0.992
3q 1139 0.25 0.377 0.953 0.12 -1.13 0.992
4p 489 0.04 -2.13 0.991 0.20 -0.203 0.954
4q 1049 0.04 -2.11 0.991 0.23 0.18 0.954
5p 270 0.23 0.215 0.953 0.20 -0.164 0.954
5q 1427 0.18 -0.462 0.991 0.33 1.38 0.297
6p 1173 0.44 2.8 0.0253 0.21 -0.107 0.954
6q 839 0.21 -0.0794 0.991 0.44 2.85 0.0175
7p 641 0.47 3.33 0.0101 0.06 -1.58 0.992
7q 1277 0.42 2.65 0.0321 0.00 -2.26 0.992
8p 580 0.31 1.14 0.568 0.22 0.0166 0.954
8q 859 0.32 1.32 0.465 0.14 -0.929 0.992
9p 422 0.08 -1.11 0.991 0.63 5.58 4.69e-07
9q 1113 0.07 -1.34 0.991 0.57 4.58 4.69e-05
10p 409 0.06 -1.64 0.991 0.43 2.92 0.0175
10q 1268 0.00 -2.26 0.991 0.42 2.65 0.0228
11p 862 0.12 -1 0.991 0.48 3.45 0.00376
11q 1515 0.06 -1.71 0.991 0.43 2.76 0.0193
12p 575 0.08 -1.72 0.991 0.17 -0.569 0.992
12q 1447 0.08 -1.72 0.991 0.21 -0.208 0.954
13q 654 0.14 -0.913 0.991 0.32 1.35 0.297
14q 1341 0.28 0.696 0.884 0.25 0.329 0.954
15q 1355 0.24 0.248 0.953 0.08 -1.64 0.992
16p 872 0.04 -2.16 0.991 0.20 -0.243 0.954
16q 702 0.00 -2.35 0.991 0.35 1.86 0.139
17p 683 0.05 -1.74 0.991 0.40 2.44 0.0372
17q 1592 0.25 0.328 0.953 0.12 -1.16 0.992
18p 143 0.25 0.45 0.953 0.28 0.826 0.584
18q 446 0.12 -1.16 0.991 0.21 -0.00768 0.954
19p 995 0.27 0.615 0.897 0.21 -0.13 0.954
19q 1709 0.24 0.179 0.953 0.24 0.179 0.954
20p 355 0.32 1.47 0.403 0.00 -2.39 0.992
20q 753 0.35 1.86 0.212 0.00 -2.36 0.992
21q 509 0.10 -1.34 0.991 0.34 1.7 0.18
22q 921 0.45 2.99 0.0186 0.11 -1.1 0.992
Xq 1312 0.17 -0.554 0.991 0.30 0.931 0.541
Methods & Data
Input
Description
  • Segmentation File: The segmentation file contains the segmented data for all the samples identified by GLAD, CBS, or some other segmentation algorithm. (See GLAD file format in the Genepattern file formats documentation.) It is a six column, tab-delimited file with an optional first line identifying the columns. Positions are in base pair units.The column headers are: (1) Sample (sample name), (2) Chromosome (chromosome number), (3) Start Position (segment start position, in bases), (4) End Position (segment end position, in bases), (5) Num markers (number of markers in segment), (6) Seg.CN (log2() -1 of copy number).

  • Markers File: The markers file identifies the marker names and positions of the markers in the original dataset (before segmentation). It is a three column, tab-delimited file with an optional header. The column headers are: (1) Marker Name, (2) Chromosome, (3) Marker Position (in bases).

  • Reference Genome: The reference genome file contains information about the location of genes and cytobands on a given build of the genome. Reference genome files are created in Matlab and are not viewable with a text editor.

  • CNV Files: There are two options for the cnv file. The first option allows CNVs to be identified by marker name. The second option allows the CNVs to be identified by genomic location. Option #1: A two column, tab-delimited file with an optional header row. The marker names given in this file must match the marker names given in the markers file. The CNV identifiers are for user use and can be arbitrary. The column headers are: (1) Marker Name, (2) CNV Identifier. Option #2: A 6 column, tab-delimited file with an optional header row. The 'CNV Identifier' is for user use and can be arbitrary. 'Narrow Region Start' and 'Narrow Region End' are also not used. The column headers are: (1) CNV Identifier, (2) Chromosome, (3) Narrow Region Start, (4) Narrow Region End, (5) Wide Region Start, (6) Wide Region End

  • Amplification Threshold: Threshold for copy number amplifications. Regions with a log2 ratio above this value are considered amplified.

  • Deletion Threshold: Threshold for copy number deletions. Regions with a log2 ratio below the negative of this value are considered deletions.

  • Cap Values: Minimum and maximum cap values on analyzed data. Regions with a log2 ratio greater than the cap are set to the cap value; regions with a log2 ratio less than -cap value are set to -cap. Values must be positive.

  • Broad Length Cutoff: Threshold used to distinguish broad from focal events, given in units of fraction of chromosome arm.

  • Remove X-Chromosome: Flag indicating whether to remove data from the X-chromosome before analysis. Allowed values= {1,0} (1: Remove X-Chromosome, 0: Do not remove X-Chromosome.

  • Confidence Level: Confidence level used to calculate the region containing a driver.

  • Join Segment Size: Smallest number of markers to allow in segments from the segmented data. Segments that contain fewer than this number of markers are joined to the neighboring segment that is closest in copy number.

  • Arm Level Peel Off: Flag set to enable arm-level peel-off of events during peak definition. The arm-level peel-off enhancement to the arbitrated peel-off method assigns all events in the same chromosome arm of the same sample to a single peak. It is useful when peaks are split by noise or chromothripsis. Allowed values= {1,0} (1: Use arm level peel off, 0: Use normal arbitrated peel-off).

  • Maximum Sample Segments: Maximum number of segments allowed for a sample in the input data. Samples with more segments than this threshold are excluded from the analysis.

Values

List of inputs used for this run of GISTIC2. All files listed should be included in the archived results.

  • Segmentation File = /xchip/cga/gdac-prod/tcga-gdac/jobResults/GDAC_MergeDataFilesPipeline/SKCM-NF1_Any_Mutants/3154381/GDAC_MergeDataFiles_3154690/SKCM-NF1_Any_Mutants.snp__genome_wide_snp_6__broad_mit_edu__Level_3__segmented_scna_minus_germline_cnv_hg19__seg.seg.txt

  • Markers File = /xchip/cga/reference/gistic2/genome.info.6.0_hg19.na31_minus_frequent_nan_probes_sorted_2.1.txt

  • Reference Genome = /xchip/cga/reference/gistic2/hg19_with_miR_20120227.mat

  • CNV Files = /xchip/cga/reference/gistic2/CNV.hg19.bypos.111213.txt

  • Amplification Threshold = 0.1

  • Deletion Threshold = 0.1

  • Cap Values = 1.5

  • Broad Length Cutoff = 0.7

  • Remove X-Chromosome = 0

  • Confidence Level = 0.99

  • Join Segment Size = 4

  • Arm Level Peel Off = 1

  • Maximum Sample Segments = 2000

Table 4.  Get Full Table First 10 out of 31 Input Tumor Samples.

Tumor Sample Names
TCGA-D3-A2JA-06A-11D-A194-01
TCGA-D3-A2JF-06A-11D-A194-01
TCGA-DA-A1I0-06A-11D-A20B-01
TCGA-DA-A1IC-06A-11D-A191-01
TCGA-EE-A17X-06A-11D-A191-01
TCGA-EE-A180-06A-11D-A219-01
TCGA-EE-A181-06A-11D-A194-01
TCGA-EE-A182-06A-11D-A194-01
TCGA-EE-A20C-06A-11D-A194-01
TCGA-EE-A29L-06A-12D-A194-01

Figure 3.  Segmented copy number profiles in the input data

Output
All Lesions File (all_lesions.conf_##.txt, where ## is the confidence level)

The all lesions file summarizes the results from the GISTIC run. It contains data about the significant regions of amplification and deletion as well as which samples are amplified or deleted in each of these regions. The identified regions are listed down the first column, and the samples are listed across the first row, starting in column 10.

Region Data

Columns 1-9 present the data about the significant regions as follows:

  1. Unique Name: A name assigned to identify the region.

  2. Descriptor: The genomic descriptor of that region.

  3. Wide Peak Limits: The 'wide peak' boundaries most likely to contain the targeted genes. These are listed in genomic coordinates and marker (or probe) indices.

  4. Peak Limits: The boundaries of the region of maximal amplification or deletion.

  5. Region Limits: The boundaries of the entire significant region of amplification or deletion.

  6. Q values: The Q value of the peak region.

  7. Residual Q values: The Q value of the peak region after removing ('peeling off') amplifications or deletions that overlap other, more significant peak regions in the same chromosome.

  8. Broad or Focal: Identifies whether the region reaches significance due primarily to broad events (called 'broad'), focal events (called 'focal'), or independently significant broad and focal events (called 'both').

  9. Amplitude Threshold: Key giving the meaning of values in the subsequent columns associated with each sample.

Sample Data

Each of the analyzed samples is represented in one of the columns following the lesion data (columns 10 through end). The data contained in these columns varies slightly by section of the file. The first section can be identified by the key given in column 9 - it starts in row 2 and continues until the row that reads 'Actual Copy Change Given.' This section contains summarized data for each sample. A '0' indicates that the copy number of the sample was not amplified or deleted beyond the threshold amount in that peak region. A '1' indicates that the sample had low-level copy number aberrations (exceeding the low threshold indicated in column 9), and a '2' indicates that the sample had high-level copy number aberrations (exceeding the high threshold indicated in column 9).The second section can be identified the rows in which column 9 reads 'Actual Copy Change Given.' The second section exactly reproduces the first section, except that here the actual changes in copy number are provided rather than zeroes, ones, and twos.The final section is similar to the first section, except that here only broad events are included. A 1 in the samples columns (columns 10+) indicates that the median copy number of the sample across the entire significant region exceeded the threshold given in column 9. That is, it indicates whether the sample had a geographically extended event, rather than a focal amplification or deletion covering little more than the peak region.

Amplification Genes File (amp_genes.conf_##.txt, where ## is the confidence level)

The amp genes file contains one column for each amplification peak identified in the GISTIC analysis. The first four rows are:

  1. Cytoband

  2. Q value

  3. Residual Q value

  4. Wide Peak Boundaries

These rows identify the lesion in the same way as the all lesions file.The remaining rows list the genes contained in each wide peak. For peaks that contain no genes, the nearest gene is listed in brackets.

Deletion Genes File (del_genes.conf_##.txt, where ## is the confidence level)

The del genes file contains one column for each deletion peak identified in the GISTIC analysis. The file format for the del genes file is identical to the format for the amp genes file.

Gistic Scores File (scores.gistic)

The scores file lists the Q values [presented as -log10(q)], G scores, average amplitudes among aberrant samples, and frequency of aberration, across the genome for both amplifications and deletions. The scores file is viewable with the Genepattern SNPViewer module and may be imported into the Integrated Genomics Viewer (IGV).

Segmented Copy Number (raw_copy_number.{fig|pdf|png} )

The segmented copy number is a pdf file containing a colormap image of the segmented copy number profiles in the input data.

Amplification Score GISTIC plot (amp_qplot.{fig|pdf|png|v2.pdf})

The amplification pdf is a plot of the G scores (top) and Q values (bottom) with respect to amplifications for all markers over the entire region analyzed.

Deletion Score GISTIC plot (del_qplot.{fig|pdf|png|v2.pdf})

The deletion pdf is a plot of the G scores (top) and Q values (bottom) with respect to deletions for all markers over the entire region analyzed.

Tables (table_{amp|del}.conf_##.txt, where ## is the confidence level)

Tables of basic information about the genomic regions (peaks) that GISTIC determined to be significantly amplified or deleted. These describe three kinds of peak boundaries, and list the genes contained in two of them. The region start and region end columns (along with the chromosome column) delimit the entire area containing the peak that is above the significance level. The region may be the same for multiple peaks. The peak start and end delimit the maximum value of the peak. The extended peak is the peak determined by robust, and is contained within the wide peak reported in {amp|del}_genes.txt by one marker.

Broad Significance Results (broad_significance_results.txt)

A table of per-arm statistical results for the data set. Each arm is a row in the table. The first column specifies the arm and the second column counts the number of genes known to be on the arm. For both amplification and deletion, the table has columns for the frequency of amplification or deletion of the arm, and a Z score and Q value.

Broad Values By Arm (broad_values_by_arm.txt)

A table of chromosome arm amplification levels for each sample. Each row is a chromosome arm, and each column a sample. The data are in units of absolute copy number -2.

All Data By Genes (all_data_by_genes.txt)

A gene-level table of copy number values for all samples. Each row is the data for a gene. The first three columns name the gene, its NIH locus ID, and its cytoband - the remaining columns are the samples. The copy number values in the table are in units of (copy number -2), so that no amplification or deletion is 0, genes with amplifications have positive values, and genes with deletions are negative values. The data are converted from marker level to gene level using the extreme method: a gene is assigned the greatest amplification or the least deletion value among the markers it covers.

Broad Data By Genes (broad_data_by_genes.txt)

A gene-level table of copy number data similar to the all_data_by_genes.txt output, but using only broad events with lengths greater than the broad length cutoff. The structure of the file and the methods and units used for the data analysis are otherwise identical to all_data_by_genes.txt.

Focal Data By Genes (focal_data_by_genes.txt)

A gene-level table of copy number data similar to the all_data_by_genes.txt output, but using only focal events with lengths greater than the focal length cutoff. The structure of the file and the methods and units used for the data analysis are otherwise identical to all_data_by_genes.txt.

All Thresholded By Genes (all_thresholded.by_genes.txt)

A gene-level table of discrete amplification and deletion indicators at for all samples. There is a row for each gene. The first three columns name the gene, its NIH locus ID, and its cytoband - the remaining columns are the samples. A table value of 0 means no amplification or deletion above the threshold. Amplifications are positive numbers: 1 means amplification above the amplification threshold; 2 means amplifications larger to the arm level amplifications observed for the sample. Deletions are represented by negative table values: -1 represents deletion beyond the threshold; -2 means deletions greater than the minimum arm-level deletion observed for the sample.

Sample Cutoffs (sample_cutoffs.txt)

A table of the per-sample threshold cutoffs (in units of absolute copy number -2) used to distinguish the high level amplifications (+/-2) from ordinary amplifications (+/-1) in the all_thresholded.by_genes.txt output file. The table contains three columns: the sample identifier followed by the low (deletion) and high (amplification) cutoff values. The cutoffs are calculated as the minimum arm-level amplification level less the deletion threshold for deletions and the maximum arm-level amplification plus the amplification threshold for amplifications.

Focal Input To Gistic (focal_input.seg.txt)

A list of copy number segments describing just the focal events present in the data. The segment amplification/deletion levels are in units of (copy number -2), with amplifications positive and deletions negative numbers. This file may be viewed with IGV.

Gene Counts vs. Copy Number Alteration Frequency (freqarms_vs_ngenes.{fig|pdf})

An image showing the correlation between gene counts and frequency of copy number alterations.

Confidence Intervals (regions_track.conf_##.bed, where ## is the confidence level)

A file indicating the position of the confidence intervals around GISTIC peaks that can be loaded as a track in a compatible viewer browser such as IGV or the UCSC genome browser.

GISTIC

GISTIC identifies genomic regions that are significantly gained or lost across a set of tumors. It takes segmented copy number ratios as input, separates arm-level events from focal events, and then performs two tests: (i) identifies significantly amplified/deleted chromosome arms; and (ii) identifies regions that are significantly focally amplified or deleted. For the focal analysis, the significance levels (Q values) are calculated by comparing the observed gains/losses at each locus to those obtained by randomly permuting the events along the genome to reflect the null hypothesis that they are all 'passengers' and could have occurred anywhere. The locus-specific significance levels are then corrected for multiple hypothesis testing. The arm-level significance is calculated by comparing the frequency of gains/losses of each arm to the expected rate given its size. The method outputs genomic views of significantly amplified and deleted regions, as well as a table of genes with gain or loss scores. A more in depth discussion of the GISTIC algorithm and its utility is given in [1], [3], and [5].

CNV Description

Regions of the genome that are prone to germ line variations in copy number are excluded from the GISTIC analysis using a list of germ line copy number variations (CNVs). A CNV is a DNA sequence that may be found at different copy numbers in the germ line of two different individuals. Such germ line variations can confound a GISTIC analysis, which finds significant somatic copy number variations in cancer. A more in depth discussion is provided in [6]. GISTIC currently uses two CNV exclusion lists. One is based on the literature describing copy number variation, and a second one comes from an analysis of significant variations among the blood normals in the TCGA data set.

Download Results

This is an experimental feature. The full results of the analysis summarized in this report can be downloaded from the TCGA Data Coordination Center.

References
[1] Beroukhim et al, Assessing the significance of chromosomal aberrations in cancer: Methodology and application to glioma, Proc Natl Acad Sci U S A. Vol. 104:50 (2007)
[3] Mermel et al, GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers, Genome Biology Vol. 12:4 (2011)
[5] Beroukhim et al., The landscape of somatic copy-number alteration across human cancers, Nature Vol. 463:7283 (2010)
[6] McCarroll, S. A. et al., Integrated detection and population-genetic analysis of SNPs and copy number variation, Nat Genet Vol. 40(10):1166-1174 (2008)