LowPass Copy number analysis (GISTIC2)
Lung Adenocarcinoma (Primary solid tumor)
23 September 2013  |  analyses__2013_09_23
Maintainer Information
Citation Information
Maintained by Spring Yingchun Liu (Broad Institute)
Cite as Broad Institute TCGA Genome Data Analysis Center (2013): LowPass Copy number analysis (GISTIC2). Broad Institute of MIT and Harvard. doi:10.7908/C1959FW1
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 2.0.19 (Firehose task version: 125).

Summary

There were 120 tumor samples used in this analysis: 19 significant arm-level results, 41 significant focal amplifications, and 34 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 - 41 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
12q15 1.9873e-13 1.9873e-13 chr12:69160306-69242895 1
14q13.2 7.8201e-10 7.8201e-10 chr14:36253855-36359486 2
10p11.1 9.0579e-09 1.7838e-07 chr10:38777087-38901643 0 [LOC399744]
1q21.2 1.9417e-06 5.1057e-06 chr1:120505236-152317480 157
20q13.2 2.4905e-05 2.4905e-05 chr20:52182686-52325184 1
12p12.1 4.5672e-05 0.00077726 chr12:24845424-26133043 11
8p11.21 0.0015274 0.0015274 chr8:42018595-47462777 18
7p11.2 0.0017269 0.0026314 chr7:54612077-56175489 17
5p13.2 0.0025769 0.0052531 chr5:36847490-37655105 5
5q31.3 0.0057678 0.0057678 chr5:140693187-140828596 21
8q24.21 7.0321e-05 0.0072659 chr8:128528311-129213692 11
2q31.1 0.0096139 0.0096139 chr2:170614261-170755876 3
19q13.11 0.011571 0.011571 chr19:34266780-34998944 7
1p31.1 0.018031 0.018031 chr1:84313530-84342583 1
8q22.3 0.00085962 0.018031 chr8:101933474-101989217 1
9p21.3 0.032276 0.032276 chr9:21952539-22024723 4
4p16.1 0.022431 0.032452 chr4:10174189-10452816 1
Xq28 0.04729 0.04729 chrX:151610247-155270560 106
4p15.2 0.048916 0.049997 chr4:26240748-26375976 1
7p21.1 0.035442 0.056232 chr7:16987241-20665079 14
2p25.1 0.057487 0.057487 chr2:11396355-11470704 1
20p11.21 0.066772 0.066772 chr20:23329302-23633577 10
11q24.3 0.08097 0.08097 chr11:129844642-129931406 2
3q26.2 0.092027 0.092027 chr3:169726147-170140845 5
Xp22.11 0.057487 0.098564 chrX:23656157-24251235 8
7q22.1 0.039642 0.10017 chr7:97328882-103703617 140
Xp11.1 0.06322 0.10412 chrX:58103757-62195567 0 [ZXDA]
13q31.1 0.10639 0.10639 chr13:81658077-81682427 0 [SPRY2]
5p15.33 0.0040157 0.1103 chr5:1-3284727 36
10p12.2 0.10197 0.11316 chr10:22551974-22640334 4
18q21.2 0.13577 0.13577 chr18:51864887-51896376 2
4q12 0.14416 0.14416 chr4:56411776-56520547 3
21q21.3 0.14416 0.14416 chr21:26928178-27147344 8
12p11.21 0.018478 0.15003 chr12:30796994-39233501 22
1q41 0.017603 0.1584 chr1:221027121-221073250 1
6p22.3 0.12755 0.16627 chr6:21544807-21859971 2
6q21 0.20798 0.20798 chr6:112359829-112553049 4
7q31.2 0.027925 0.28312 chr7:115126684-116945549 12
5p15.2 0.028198 0.52993 chr5:1-16257708 84
6p24.3 0.12755 0.77279 chr6:1-171115067 1218
8q21.11 0.00017147 0.88478 chr8:1-146364022 853
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 12q15.

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

Genes
MDM2
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 14q13.2.

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

Genes
BRMS1L
RALGAPA1
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 1q21.2.

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

Genes
ARNT
BCL9
NOTCH2
PDE4DIP
hsa-mir-554
hsa-mir-4257
hsa-mir-3118-3
hsa-mir-3118-2
hsa-mir-3118-1
CTSK
CTSS
ECM1
ENSA
FCGR1A
FCGR1B
FLG
FMO5
GJA5
GJA8
MCL1
PDZK1
PI4KB
PRKAB2
PSMB4
PSMD4
RFX5
RORC
S100A10
S100A11
VPS72
TCHH
TUFT1
HIST2H2AA3
HIST2H2AC
HIST2H2BE
HIST2H4A
PIP5K1A
ANXA9
ITGA10
PEX11B
SELENBP1
PRPF3
SEC22B
CHD1L
SETDB1
SV2A
RBM8A
SF3B4
PIAS3
SEMA6C
POLR3C
TXNIP
MTMR11
MLLT11
TDRKH
CD160
CELF3
VPS45
POGZ
RPRD2
CA14
NBPF14
RNF115
TMOD4
CERS2
BOLA1
APH1A
PLEKHO1
ACP6
GPR89B
OAZ3
MRPS21
ADAMTSL4
C1orf56
GOLPH3L
FAM63A
CDC42SE1
OTUD7B
FAM91A2
CGN
ZNF687
PRUNE
MRPL9
SCNM1
TNFAIP8L2
C1orf54
TARS2
SNX27
ANP32E
HORMAD1
POLR3GL
GNRHR2
THEM4
GABPB2
TCHHL1
RPTN
HIST2H3C
LIX1L
C1orf51
HFE2
ANKRD35
BNIPL
PPIAL4A
PDIA3P
NBPF11
NUDT17
RIIAD1
THEM5
NBPF15
ANKRD34A
HIST2H2AB
HIST2H3A
HIST2H2BC
HIST2H2BA
LINGO4
LOC375010
NOTCH2NL
FLJ39739
LOC388692
LYSMD1
HRNR
NBPF9
HIST2H2BF
HIST2H4B
PPIAL4G
PPIAL4D
LOC645166
EMBP1
SRGAP2P2
PPIAL4B
LOC653513
GPR89A
PPIAL4C
HIST2H3D
FAM72B
MIR554
HIST2H2AA4
FAM72D
LOC728855
LOC728875
NBPF24
GPR89C
NBPF16
PDZK1P1
PPIAL4F
LOC728989
PPIAL4E
PFN1P2
LOC100130000
LOC100132111
NBPF10
FCGR1C
C2CD4D
LOC100286793
LOC100289211
MIR4257
TNFAIP8L2-SCNM1
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 20q13.2.

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

Genes
ZNF217
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
BCAT1
LRMP
RASSF8
CASC1
LYRM5
IFLTD1
C12orf77
MIR4302
LOC100506451
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 8p11.21.

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

Genes
HOOK3
CHRNB3
FNTA
IKBKB
PLAT
POLB
SLC20A2
VDAC3
CHRNA6
AP3M2
DKK4
THAP1
RNF170
SGK196
C8orf40
HGSNAT
POTEA
MIR4469
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 7p11.2.

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

Genes
EGFR
CCT6A
GBAS
PHKG1
PSPH
SEC61G
SUMF2
CHCHD2
MRPS17
LANCL2
VOPP1
VSTM2A
LOC285878
SEPT14
ZNF713
FKBP9L
SNORA15
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 5p13.2.

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

Genes
NUP155
NIPBL
WDR70
C5orf42
LOC646719
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 5q31.3.

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

Genes
TAF7
PCDHGB4
PCDHGA8
PCDHGA12
PCDHGB7
PCDHGB6
PCDHGB5
PCDHGB3
PCDHGB2
PCDHGB1
PCDHGA11
PCDHGA10
PCDHGA9
PCDHGA7
PCDHGA6
PCDHGA5
PCDHGA4
PCDHGA3
PCDHGA2
PCDHGA1
PCDHGB8P
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 8q24.21.

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

Genes
MYC
hsa-mir-1208
hsa-mir-1207
hsa-mir-1205
hsa-mir-1204
PVT1
MIR1205
MIR1206
MIR1207
MIR1204
MIR1208
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 2q31.1.

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

Genes
SSB
METTL5
UBR3
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 19q13.11.

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

Genes
GPI
KIAA0355
UBA2
LSM14A
KCTD15
PDCD2L
WTIP
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 1p31.1.

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

Genes
TTLL7
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 8q22.3.

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

Genes
YWHAZ
Genes in Wide Peak

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

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

Genes
CDKN2A
CDKN2B
C9orf53
CDKN2B-AS1
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 4p16.1.

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

Genes
ZNF518B
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for Xq28.

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

Genes
MTCP1
hsa-mir-1184-3
hsa-mir-1184-2
hsa-mir-1184-1
hsa-mir-718
ABCD1
ARHGAP4
ATP2B3
ATP6AP1
AVPR2
BGN
CETN2
CLIC2
CTAG1B
TEX28
DKC1
DNASE1L1
DUSP9
EMD
F8
FLNA
G6PD
GABRA3
OPN1MW
GDI1
HCFC1
IDH3G
IL9R
IRAK1
L1CAM
MAGEA1
MAGEA2
MAGEA3
MAGEA6
MAGEA12
MECP2
MPP1
PLXNB3
OPN1LW
RENBP
RPL10
SLC6A8
SSR4
VAMP7
TAZ
VBP1
ZNF185
NAA10
F8A1
UBL4A
TMEM187
LAGE3
SLC10A3
TKTL1
IKBKG
FAM50A
BCAP31
SPRY3
ZNF275
TREX2
SRPK3
SNORA70
PNMA3
CTAG2
NSDHL
TMLHE
PLXNA3
HAUS7
GABRQ
PDZD4
FAM3A
FUNDC2
BRCC3
H2AFB3
PNMA6A
FAM58A
PNMA5
RAB39B
GAB3
PNCK
ZFP92
CSAG1
CTAG1A
MAGEA2B
LINC00204B
CSAG3
H2AFB2
H2AFB1
F8A2
F8A3
SNORA36A
SNORA56
OPN1MW2
CSAG2
CXorf68
LINC00204A
MTCP1NB
PNMA6C
PNMA6D
MIR1184-1
MIR718
MIR3202-2
MIR1184-3
MIR1184-2
MIR3202-1
LOC100507404
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 4p15.2.

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

Genes
RBPJ
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 7p21.1.

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

Genes
hsa-mir-3146
hsa-mir-1302-6
AHR
ITGB8
TWIST1
HDAC9
SNX13
PRPS1L1
TWISTNB
FERD3L
TMEM196
ABCB5
MACC1
MIR3146
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 2p25.1.

Table S20.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
ROCK2
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 20p11.21.

Table S21.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
CST3
CST8
NXT1
NAPB
GZF1
CSTL1
CST9L
CST9
CST11
CSTT
Genes in Wide Peak

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

Table S22.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
PRDM10
LINC00167
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 3q26.2.

Table S23.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
CLDN11
PRKCI
SKIL
GPR160
PHC3
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for Xp22.11.

Table S24.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
EIF2S3
SAT1
ZFX
PRDX4
ACOT9
APOO
KLHL15
CXorf58
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 7q22.1.

Table S25.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
hsa-mir-548o
hsa-mir-4285
hsa-mir-106b
ACHE
ASNS
AZGP1
AP1S1
CUX1
CYP3A7
CYP3A4
CYP3A5
EPHB4
EPO
GNB2
AGFG2
LRCH4
MCM7
NPTX2
OCM2
SERPINE1
PCOLCE
PMS2P1
POLR2J
RELN
PSMC2
TAC1
TAF6
TFR2
TRIP6
VGF
ZAN
ZNF3
ZKSCAN1
ZSCAN21
TRRAP
BUD31
PLOD3
AP4M1
PMPCB
ATP5J2
MUC12
ARPC1B
RASA4
LRRC17
POP7
ZNHIT1
ARPC1A
SH2B2
STAG3
CPSF4
COPS6
PDAP1
LMTK2
ZKSCAN5
CLDN15
BRI3
TECPR1
PTCD1
FBXO24
DNAJC2
PILRB
PILRA
FIS1
ACTL6B
SRRT
ALKBH4
ZCWPW1
C7orf43
BAIAP2L1
MEPCE
SLC12A9
SMURF1
MOSPD3
GIGYF1
RABL5
CYP3A43
ZNF655
PVRIG
GAL3ST4
PRKRIP1
ORAI2
OR2AE1
TSC22D4
TRIM56
ARMC10
ZNF394
MYH16
TRIM4
MYL10
EMID2
MUC17
BHLHA15
ZNF498
FAM200A
PPP1R35
GPC2
LRWD1
FAM185A
FBXL13
NAPEPLD
TMEM130
NYAP1
CNPY4
POLR2J2
MBLAC1
ZNF789
MOGAT3
GJC3
DPY19L2P2
GATS
NAT16
SLC26A5
MGC72080
C7orf59
KPNA7
C7orf61
UFSP1
MIR106B
MIR25
MIR93
SPDYE3
SPDYE2
POLR2J3
AZGP1P1
SPDYE6
RPL19P12
LOC100129845
UPK3BL
LOC100289187
LOC100289561
SPDYE2L
SAP25
MIR4285
MIR3609
ATP5J2-PTCD1
MIR4653
MIR4467
MIR4658
LOC100630923
CYP3A7-CYP3AP1
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 5p15.33.

Table S26.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
hsa-mir-4277
NDUFS6
SDHA
SLC6A3
SLC9A3
TERT
TRIP13
PDCD6
SLC12A7
TPPP
EXOC3
PP7080
IRX4
CEP72
AHRR
MRPL36
BRD9
ZDHHC11
LPCAT1
CLPTM1L
NKD2
C5orf55
CCDC127
PLEKHG4B
C5orf38
IRX2
SLC6A19
SLC6A18
LRRC14B
SDHAP3
LOC728613
MIR4277
LOC100506688
MIR4457
MIR4456
MIR4635
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 10p12.2.

Table S27.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
BMI1
SPAG6
COMMD3
COMMD3-BMI1
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 18q21.2.

Table S28.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
STARD6
C18orf54
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 4q12.

Table S29.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
CLOCK
NMU
PDCL2
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 21q21.3.

Table S30.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
hsa-mir-155
ATP5J
GABPA
MRPL39
JAM2
MIR155HG
LINC00515
MIR155
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 12p11.21.

Table S31.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
BICD1
DDX11
PKP2
DNM1L
IPO8
YARS2
C12orf35
FAM60A
CAPRIN2
FLJ13224
ALG10
FGD4
ALG10B
CPNE8
DENND5B
AMN1
METTL20
SYT10
H3F3C
TSPAN11
LOC100287314
LOC100506660
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 1q41.

Table S32.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
HLX
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 6p22.3.

Table S33.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
SOX4
LINC00340
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 6q21.

Table S34.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
LAMA4
WISP3
TUBE1
C6orf225
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 7q31.2.

Table S35.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
MET
CAPZA2
CAV1
CAV2
WNT2
ST7
TFEC
TES
ST7-AS1
ST7-AS2
ST7-OT3
ST7-OT4
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 5p15.2.

Table S36.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
hsa-mir-887
hsa-mir-4278
hsa-mir-4277
ADCY2
CTNND2
DAP
DNAH5
MTRR
NDUFS6
SDHA
SLC6A3
SLC9A3
SRD5A1
TERT
TRIO
SEMA5A
TRIP13
PDCD6
MARCH6
SLC12A7
PAPD7
TPPP
EXOC3
CCT5
FBXL7
KIAA0947
PP7080
IRX4
TAS2R1
FAM105A
NSUN2
CEP72
ANKH
AHRR
MRPL36
BRD9
FASTKD3
IRX1
ZDHHC11
LPCAT1
CLPTM1L
ROPN1L
MED10
NKD2
FAM105B
C5orf55
CCDC127
UBE2QL1
C5orf49
FAM173B
CMBL
PLEKHG4B
C5orf38
IRX2
ADAMTS16
LOC255167
LOC285577
LOC285692
SLC6A19
LOC340094
SLC6A18
LRRC14B
FLJ33360
TAG
MARCH11
LOC442132
ANKRD33B
SDHAP3
LOC728613
LOC729506
SNORD123
LOC100130744
MIR4277
MIR4278
LOC100505738
LOC100505806
LOC100506688
MIR4458
MIR4454
MIR4457
MIR4637
MIR4636
MIR4456
MIR4635
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 6p24.3.

Table S37.  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
Genes in Wide Peak

This is the comprehensive list of amplified genes in the wide peak for 8q21.11.

Table S38.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
COX6C
EXT1
FGFR1
MYC
PCM1
PLAG1
TCEA1
WRN
RECQL4
NCOA2
WHSC1L1
CHCHD7
HOOK3
hsa-mir-1234
hsa-mir-939
hsa-mir-661
hsa-mir-937
hsa-mir-1302-7
hsa-mir-151
hsa-mir-30d
hsa-mir-1208
hsa-mir-1207
hsa-mir-1205
hsa-mir-1204
hsa-mir-548d-1
hsa-mir-2053
hsa-mir-548a-3
hsa-mir-3151
hsa-mir-1273
hsa-mir-875
hsa-mir-3150
hsa-mir-3149
hsa-mir-2052
hsa-mir-124-2
hsa-mir-486
hsa-mir-3148
hsa-mir-4288
hsa-mir-4287
hsa-mir-548h-4
hsa-mir-320a
hsa-mir-548v
hsa-mir-383
hsa-mir-598
hsa-mir-1322
hsa-mir-4286
hsa-mir-124-1
hsa-mir-597
hsa-mir-548i-3
hsa-mir-596
NAT1
NAT2
ADCY8
ADRA1A
ADRB3
ANGPT1
ANGPT2
ANK1
ANXA13
ASAH1
ASPH
ATP6V1B2
ATP6V1C1
BAI1
BLK
BMP1
POLR3D
BNIP3L
OSGIN2
CA1
CA2
CA3
CA8
CALB1
RUNX1T1
CDH17
CEBPD
CHRNA2
CHRNB3
CLU
CRH
CTSB
CYC1
CYP7A1
CYP11B1
CYP11B2
ADAM3A
DECR1
DEFA1
DEFA3
DEFA4
DEFA5
DEFA6
DEFB1
DEFB4A
DPYS
DPYSL2
DUSP4
E2F5
EEF1D
EGR3
EIF4EBP1
EPB49
EPHX2
CLN8
EXTL3
EYA1
FABP4
FABP5
PTK2B
FDFT1
FGL1
FNTA
ADAM2
GATA4
GEM
GFRA2
GLI4
GML
GNRH1
NPBWR1
GPR20
GPT
GRINA
GSR
GTF2E2
HAS2
NRG1
HNF4G
HSF1
IKBKB
IL7
IMPA1
IDO1
EIF3E
KCNQ3
KCNS2
LOXL2
LPL
LY6E
LY6H
LYN
MATN2
MCM4
MMP16
MOS
MSR1
MSRA
MYBL1
NBN
NDUFB9
NEFM
NEFL
TONSL
NKX3-1
NOV
ODF1
TNFRSF11B
OPRK1
PDE7A
PDGFRL
ENPP2
PENK
PLAT
PLEC
PNOC
PMP2
POLB
POLR2K
POU5F1B
PPP2CB
PPP2R2A
PPP3CC
PKIA
PRKDC
PTK2
PVT1
PEX2
RAB2A
RAD21
RP1
RPL7
RPL8
RPL30
RPS20
SDC2
SDCBP
SFRP1
SFTPC
ST3GAL1
SLA
SLC7A2
SLC18A1
SLC20A2
SNAI2
SNTB1
SPAG1
SQLE
STAR
STC1
STK3
TACC1
TAF2
TCEB1
TERF1
TG
KLF10
TPD52
TRHR
TRPS1
TSTA3
TTPA
UBE2V2
COL14A1
UQCRB
VDAC3
YWHAZ
ZNF7
ZNF16
FZD3
TUSC3
UBXN8
KAT6A
PSCA
FZD6
NSMAF
LY6D
RGS20
JRK
TNKS
EIF3H
DGAT1
GPAA1
ADAM18
ADAM9
ADAM7
RIPK2
TNFRSF10D
TNFRSF10C
TNFRSF10B
TNFRSF10A
FGF17
GGH
WISP1
CPNE3
FOXH1
CHRNA6
TRPA1
DOK2
ASH2L
MTMR7
CCNE2
EBAG9
MYOM2
DLGAP2
MSC
MFHAS1
KCNB2
CYP7B1
BAG4
ENTPD4
ARHGEF10
MTFR1
LRRC14
TTC35
RIMS2
ST18
TOX
MTSS1
PTDSS1
PHYHIP
RB1CC1
ZNF623
KIAA0196
KBTBD11
HHLA1
SORBS3
TRIB1
HRSP12
NPM2
DLC1
NDRG1
PGCP
SPAG11B
LYPLA1
ARFGEF1
COLEC10
KHDRBS3
DCTN6
PNMA2
ADAM28
POP1
AP3M2
COPS5
RBPMS
WWP1
STMN2
PTP4A3
ERLIN2
LZTS1
PROSC
RNF139
ZHX1
PUF60
ZHX2
DENND3
XPO7
TRIM35
ZC3H3
EFR3A
RRS1
SULF1
RHOBTB2
ARC
BOP1
DDHD2
KIF13B
PSD3
ZFPM2
HEY1
TRAM1
LEPROTL1
SCRIB
KIAA0146
SLC39A14
LRRC6
LY96
SGK3
RAD54B
DCAF13
RNF19A
GPR124
KIAA1429
C8orf71
RGS22
FBXL6
PTTG3P
FBXO25
FGF20
SNORA72
SNORD54
OPLAH
PABPC1
KCNV1
STAU2
MTBP
DKK4
EIF2C2
LSM1
ADAMDEC1
BHLHE22
MRPS28
COMMD5
MRPL13
ATAD2
ASAP1-IT1
MRPL15
CNOT7
CPSF1
PURG
LRP12
RRM2B
CYHR1
ASAP1
MTERFD1
PI15
FAM135B
ZC2HC1A
PHF20L1
LACTB2
FAM82B
ZNF706
GOLGA7
VPS28
ZDHHC2
FAM203A
KCNK9
SLC25A37
C8orf55
UBR5
SCARA3
FAM49B
AZIN1
ATP6V1H
OTUD6B
TMEM66
CHRAC1
SNTG1
GDAP1
EXOSC4
PDP1
CNGB3
LY6K
KCTD9
ESRP1
IMPAD1
TMEM70
PINX1
TRMT12
OXR1
WDYHV1
PIWIL2
ELP3
THAP1
ARMC1
INTS10
CCDC25
UBE2W
BRF2
AGPAT5
LAPTM4B
C8orf39
TMEM55A
SLC39A4
CHD7
SYBU
INTS8
INTS9
CSGALNACT1
HR
PAG1
PBK
ZNF395
DEFB103B
BIN3
TEX15
GSDMC
C8orf44
JPH1
C8orf4
ENY2
CPA6
SLURP1
SLC45A4
MTUS1
KIAA1456
ZFAT
KIAA1967
ZNF250
PLEKHA2
SH2D4A
PRDM14
SNX16
NECAB1
PDLIM2
SOX17
CSMD1
EBF2
FAM160B2
DEPTOR
PYCRL
C8orf33
ZBTB10
LYNX1
MTMR9
DUSP26
C8orf51
DSCC1
DERL1
GPR172A
HMBOX1
EFCAB1
MCPH1
PPP1R3B
PLEKHF2
ZMAT4
ZFAND1
ZFHX4
GSDMD
NIPAL2
RNF122
CSPP1
BAALC
NUDT18
ZNF696
GRHL2
DOCK5
FLJ14107
VCPIP1
ZNF703
TTI2
RAB11FIP1
PREX2
REEP4
ARHGAP39
ZNF34
SLC25A32
TM7SF4
STMN4
RNF170
SLCO5A1
SHARPIN
EPPK1
SCRT1
SOX7
FAM167A
SLC35G5
LINC00208
C8orf12
CRISPLD1
TRAPPC9
TM2D2
TATDN1
NACAP1
NCALD
SGK196
MAF1
UTP23
GINS4
PPAPDC1B
MAK16
TRIM55
FUT10
PARP10
C8orf76
TIGD5
NUDCD1
FAM83A
PPP1R16A
FAM86B1
LRRCC1
TSPYL5
DNAJC5B
PSKH2
FAM110B
MED30
ERI1
ZNF251
KIFC2
TMEM67
LONRF1
CHMP7
MTDH
CHMP4C
PKHD1L1
NAPRT1
WDR67
HPYR1
RP1L1
TP53INP1
TGS1
MFSD3
MAL2
XKR4
CSMD3
RHPN1
FBXO32
C8orf40
SLC26A7
PCMTD1
CTHRC1
OSR2
C8orf34
TOP1MT
CLDN23
ZNF572
GOT1L1
FAM92A1
VPS37A
C8orf38
TMEM68
ABRA
LYPD2
NKX2-6
TMEM71
SGCZ
ADHFE1
UBXN2B
PXDNL
AGPAT6
UNC5D
LETM2
DCAF4L2
RALYL
HGSNAT
DEFB104A
LOC157273
SGK223
PEBP4
CDCA2
TMEM65
LOC157381
RDH10
C8orf56
ANKRD46
ESCO2
FBXO16
LOC157627
FAM84B
C8orf37
VPS13B
C8orf42
ERICH1
SLC7A13
TDH
TMEM74
FAM91A1
C8orf48
C8orf45
CLVS1
NKX6-3
KCNU1
C8orf84
CNBD1
SLC30A8
COL22A1
SNX31
TMEM64
ZNF596
IDO2
DEFT1P
SDR16C5
ADCK5
TSNARE1
R3HCC1
PRSS55
C8orf74
HTRA4
ADAM32
C8orf47
LGI3
MAPK15
DEFB105A
DEFB106A
DEFB107A
DEFB109P1
DEFB130
ATP6V0D2
NEIL2
YTHDF3
C8orf46
LOC254896
REXO1L1
ADAM5P
FLJ10661
XKR6
NSMCE2
LOC286059
ZNF707
BREA2
FAM83H
LOC286083
LOC286094
EFHA2
ZNF252
TMED10P1
C8orf77
LOC286114
C8orf31
ZFP41
SCARA5
LOC286135
RNF5P1
C8orf83
DPY19L4
FBXO43
LOC286177
NKAIN3
LOC286184
LOC286186
PPP1R42
LOC286189
LOC286190
GPIHBP1
LOC340357
KLHL38
NRBP2
ZNF517
KIAA1875
C8ORFK29
RSPO2
POTEA
SLC10A5
LOC349196
SPATC1
USP17L2
CA13
XKR5
FAM90A25P
LOC389641
C8orf80
C8orf86
FAM150A
XKR9
LOC389676
RBM12B
FLJ43860
MAFA
LOC392196
LOC392232
GDF6
LOC401463
C8orf59
SAMD12
MIR124-1
MIR124-2
MIR30B
MIR30D
MIR320A
DEFB103A
C8orf82
FER1L6-AS1
OR4F21
FAM90A13
FAM90A5
FAM90A7
FAM90A8
FAM90A18
FAM90A9
FAM90A10
FLJ39080
FLJ46284
FLJ42969
C8orf85
LRRC24
DEFA10P
C8orf22
MIR383
LINC00293
DEFB107B
DEFB104B
DEFB106B
DEFB105B
C8orf58
LINC00251
SAMD12-AS1
ZFAT-AS1
HAS2-AS1
DEFB135
DEFB136
DEFB134
ZNF704
C8orf69
C8orf75
MBOAT4
LINC00051
MIR486
DEFB109P1B
SNHG6
SNORD87
C8orf73
SCXB
LINC00535
UG0898H09
RPL23AP53
RAD21-AS1
FAM90A14
FABP9
FABP12
FAM86B2
SPAG11A
FER1L6
MIR596
MIR597
MIR598
MIR599
MIR661
LOC727677
HEATR7A
LOC728024
DEFA1B
FAM90A20
LOC728724
FAM90A19
ZNF705D
OC90
LOC731779
MIR875
MIR937
MIR939
LOC100127983
LOC100128126
LOC100128338
LOC100128750
FAM66B
LOC100128993
TCF24
SCXA
LOC100130155
LOC100130231
CCDC166
LOC100130298
LOC100130301
LRRC69
LOC100130964
LOC100131726
ZNF705G
FAM66E
LOC100132396
LOC100132891
FAM66D
FAM66A
SBF1P1
LOC100133267
LOC100133669
LOC100192378
LOC100287015
DEFT1P2
LOC100287846
LOC100288181
REXO1L2P
LOC100288748
DEFB4B
MIR1205
MIR1322
MIR1206
MIR1207
MIR1204
MIR548I3
MIR1234
MIR2053
MIR2052
MIR1208
MIR4287
MIR3148
MIR4288
MIR3150A
MIR3151
LOC100499183
LOC100500773
MIR3926-2
MIR3622A
MIR3926-1
MIR3622B
MIR3150B
MIR3610
LOC100505659
LOC100505676
LOC100505718
LOC100506990
LOC100507117
LOC100507156
LOC100507341
LOC100507632
LOC100507651
C8orf44-SGK3
ZHX1-C8ORF76
MIR4469
MIR378D2
MIR548O2
MIR4661
MIR4663
MIR4472-1
MIR4664
MIR4659A
MIR4660
MIR4659B
MIR4471
MIR4470
LOC100616530
LOC100652791
PCAT1
LINC00536
FSBP

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 - 34 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 2.5555e-34 7.2372e-32 chr9:21966776-22008600 4
Xp11.1 2.1963e-07 3.0708e-05 chrX:58103757-62195567 0 [ZXDA]
19p13.2 8.1764e-05 0.00010262 chr19:8996097-9090978 1
10p11.1 0.00022551 0.00022551 chr10:38773386-38901643 0 [LOC399744]
13q14.2 0.00024981 0.00024981 chr13:49133102-49265161 0 [CYSLTR2]
4q21.1 0.0004786 0.0004786 chr4:78127768-78336437 0 [CCNG2]
4p16.1 0.00058364 0.00058364 chr4:10187381-10282417 0 [WDR1]
15q11.2 0.00052246 0.00070302 chr15:25294598-25486359 71
Xp21.1 8.9762e-05 0.0012133 chrX:36707139-36813689 0 [FAM47C]
1p36.11 0.0020236 0.0020236 chr1:24150579-24412338 7
21q21.1 0.023747 0.023747 chr21:18078415-18655465 0 [LINC00478]
22q13.32 0.023747 0.023747 chr22:47838830-49147869 5
3q13.11 0.025953 0.025953 chr3:103347409-103441522 0 [MIR548A3]
12p13.1 0.033864 0.033864 chr12:13024182-14127042 13
3p12.3 0.034733 0.034733 chr3:79630681-79764849 1
6q16.1 0.0014924 0.035116 chr6:99463965-99569838 0 [FBXL4]
11q12.1 0.0016635 0.037072 chr11:57811294-58350266 15
19p13.3 0.034733 0.062181 chr19:1168036-1282863 8
5q14.3 0.052677 0.087901 chr5:73168188-88883185 82
6q24.1 0.0030742 0.13371 chr6:140637478-140681819 0 [MIR3668]
5q21.1 0.12326 0.13529 chr5:102635548-102877757 0 [NUDT12]
1p22.2 0.016699 0.14292 chr1:90813753-91029702 0 [BARHL2]
8p23.1 0.14292 0.14292 chr8:9586974-9696474 3
9p21.2 0.00052246 0.14847 chr9:22431064-26112691 5
2q22.1 0.14873 0.14873 chr2:141620779-142127366 1
1p33 0.05803 0.16319 chr1:47248628-47496249 4
19q13.2 0.19362 0.19362 chr19:39990221-40279182 11
15q25.2 0.05803 0.19992 chr15:84739057-86121490 18
16q24.2 0.20371 0.20371 chr16:87345556-90354753 60
11q22.3 0.10885 0.21441 chr11:104072940-127243943 253
6p21.2 0.22585 0.22585 chr6:39913115-40167965 0 [MOCS1]
11p14.1 0.22585 0.22585 chr11:27853438-28038089 0 [KIF18A]
12q12 0.18884 0.24702 chr12:44569014-44923208 2
12q24.21 0.14873 0.29361 chr12:103630825-133851895 295
Genes in Wide Peak

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

Table S39.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
CDKN2A
CDKN2B
C9orf53
CDKN2B-AS1
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 19p13.2.

Table S40.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
MUC16
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 15q11.2.

Table S41.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
IPW
PAR1
SNORD115-1
PAR4
SNORD116-19
SNORD116-1
SNORD116-2
SNORD116-3
SNORD116-4
SNORD116-5
SNORD116-6
SNORD116-7
SNORD116-8
SNORD116-9
SNORD116-10
SNORD116-11
SNORD116-12
SNORD116-13
SNORD116-14
SNORD116-15
SNORD116-16
SNORD116-17
SNORD116-18
SNORD116-20
SNORD116-21
SNORD116-22
SNORD116-23
SNORD116-24
SNORD116-25
SNORD115-2
SNORD116-26
SNORD116-27
SNORD115-3
SNORD115-4
SNORD115-5
SNORD115-6
SNORD115-7
SNORD115-8
SNORD115-9
SNORD115-10
SNORD115-11
SNORD115-12
SNORD115-13
SNORD115-14
SNORD115-15
SNORD115-16
SNORD115-17
SNORD115-18
SNORD115-19
SNORD115-20
SNORD115-21
SNORD115-22
SNORD115-23
SNORD115-25
SNORD115-26
SNORD115-29
SNORD115-30
SNORD115-31
SNORD115-32
SNORD115-33
SNORD115-34
SNORD115-35
SNORD115-36
SNORD115-37
SNORD115-38
SNORD115-43
SNORD116-28
SNORD116-29
SNORD115-24
SNORD115-27
SNORD115-28
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 1p36.11.

Table S42.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
CNR2
FUCA1
HMGCL
SRSF10
PNRC2
MYOM3
MIR378F
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 22q13.32.

Table S43.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
hsa-mir-3201
FAM19A5
LOC284933
FLJ46257
MIR3201
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 12p13.1.

Table S44.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
hsa-mir-614
EMP1
GRIN2B
GPRC5A
HEBP1
GPRC5D
KIAA1467
GSG1
HTR7P1
C12orf36
RPL13AP20
MIR614
LOC100506314
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 3p12.3.

Table S45.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
ROBO1
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 11q12.1.

Table S46.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
LPXN
ZFP91
OR10W1
OR9I1
OR9Q1
OR9Q2
OR1S2
OR1S1
OR10Q1
OR5B17
OR5B21
ZFP91-CNTF
OR5B2
OR5B12
OR5B3
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 19p13.3.

Table S47.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
STK11
ATP5D
CIRBP
SBNO2
C19orf24
MIDN
CIRBP-AS1
C19orf26
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 5q14.3.

Table S48.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
hsa-mir-9-2
hsa-mir-4280
ARSB
BHMT
CCNH
CKMT2
COX7C
CRHBP
HAPLN1
VCAN
DHFR
F2R
F2RL1
F2RL2
HEXB
HMGCR
MEF2C
MSH3
RASA1
RASGRF2
RPS23
TBCA
THBS4
XRCC4
ENC1
AP3B1
PDE8B
HOMER1
SCAMP1
ZFYVE16
EDIL3
COL4A3BP
LHFPL2
NSA2
IQGAP2
SV2C
OTP
SSBP2
BHMT2
FAM169A
RNU5E-1
RNU5D-1
DMGDH
GCNT4
POLK
AGGF1
WDR41
RGNEF
ATG10
ZCCHC9
ZBED3
GFM2
SPZ1
ATP6AP1L
JMY
POC5
ACOT12
TMEM167A
TMEM161B
PAPD4
FAM151B
S100Z
CMYA5
ANKRD31
SERINC5
NBPF22P
ANKRD34B
MTX3
MIR9-2
CRSP8P
LOC644936
LINC00461
SCARNA18
SNORA47
LOC728723
LOC100131067
NCRUPAR
MIR4280
MTRNR2L2
MIR3607
LOC100505894
MIR3977
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 8p23.1.

Table S49.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
hsa-mir-597
TNKS
MIR597
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 9p21.2.

Table S50.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
ELAVL2
DMRTA1
TUSC1
FLJ35282
LOC100506422
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 2q22.1.

Table S51.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
LRP1B
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 1p33.

Table S52.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
CYP4A11
CYP4B1
CYP4Z2P
CYP4X1
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 19q13.2.

Table S53.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
CLC
DLL3
LGALS13
LGALS14
EID2B
LGALS16
EID2
LEUTX
SELV
LGALS17A
LOC100129935
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 15q25.2.

Table S54.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
NMB
PDE8A
SLC28A1
ZNF592
AKAP13
SEC11A
SCAND2
ZSCAN2
ALPK3
WDR73
GOLGA6L5
LOC388152
UBE2Q2P1
DNM1P41
LOC440300
LOC648809
LOC100505679
LOC100506874
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 16q24.2.

Table S55.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
CBFA2T3
FANCA
AFG3L1P
APRT
C16orf3
CA5A
CDH15
CYBA
DPEP1
GALNS
GAS8
MC1R
MVD
CHMP1A
RPL13
SPG7
SLC7A5
CDK10
C16orf7
PIEZO1
TUBB3
PRDM7
TCF25
ZCCHC14
CPNE7
IL17C
ANKRD11
TRAPPC2L
KLHDC4
DEF8
BANP
JPH3
DBNDD1
FBXO31
CDT1
MAP1LC3B
SPIRE2
ZNF469
CENPBD1
ZNF276
RNF166
SPATA2L
C16orf55
ZC3H18
SLC22A31
ZFPM1
MGC23284
ZNF778
ACSF3
LINC00304
SNAI3
CTU2
PABPN1L
LOC400558
SNORD68
LOC100128881
LOC100130015
LOC100287036
C16orf95
MIR4722
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 11q22.3.

Table S56.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
ATM
CBL
DDX6
DDX10
MLL
PAFAH1B2
POU2AF1
SDHD
PCSK7
ARHGEF12
hsa-mir-3167
hsa-mir-100
hsa-mir-4301
hsa-mir-34c
ACAT1
ACRV1
APOA1
APOA4
APOC3
ARCN1
FXYD2
CXCR5
CASP1
CASP4
CASP5
CD3D
CD3E
CD3G
CHEK1
CRYAB
DLAT
DPAGT1
DRD2
FDX1
SLC37A4
GRIA4
GRIK4
GUCY1A2
H2AFX
HMBS
HSPA8
HSPB2
HTR3A
IL10RA
IL18
STT3A
VWA5A
MCAM
NCAM1
NNMT
NPAT
NRGN
PPP2R1B
PTS
PVRL1
RDX
RPS25
SC5DL
SCN2B
SCN4B
ST3GAL4
SLN
SORL1
SRPR
TAGLN
TECTA
THY1
UPK2
ZBTB16
ZNF202
CUL5
ZNF259
USP2
HTR3B
ZW10
UBE4A
EI24
FEZ1
C2CD2L
RBM7
MPZL2
HYOU1
ATP5L
TREH
CEP164
EXPH5
PHLDB1
SIK2
SIK3
VSIG2
BACE1
TRIM29
CADM1
POU2F3
HINFP
REXO2
OR8G2
OR8B8
OR8G1
TIMM8B
OR8B2
DCPS
DDX25
CDON
SIDT2
TRAPPC4
SPA17
FXYD6
SIAE
C11orf71
ROBO4
SLC35F2
RAB39A
BTG4
FAM55D
TTC12
C11orf57
ELMOD1
FOXRED1
SCN3B
VPS11
TEX12
CRTAM
TMPRSS4
IFT46
DSCAML1
GRAMD1B
ARHGAP20
USP28
CARD18
AASDHPPT
PKNOX2
ABCG4
ROBO3
C11orf1
RNF26
FAM118B
NLRX1
C11orf61
ALG9
CLMP
PDZD3
C11orf63
CCDC15
TMPRSS5
PUS3
MFRP
BCO2
TMPRSS13
KIAA1826
KIRREL3
BUD13
TMEM25
RPUSD4
TBRG1
UBASH3B
DIXDC1
ZC3H12C
ESAM
ALKBH8
FDXACB1
C11orf52
TIRAP
CARD16
C1QTNF5
PANX3
APOA5
C11orf93
PIH1D2
FAM55A
FAM55B
AMICA1
KBTBD3
CWF19L2
KDELC2
LAYN
TTC36
PATE1
C11orf65
MPZL3
HYLS1
TMEM218
SLC37A2
OR8B12
OR8G5
OR10G8
OR10G9
OR10S1
OR6T1
OR4D5
TBCEL
TMEM136
HEPACAM
OAF
ANKK1
RNF214
LOC283143
BCL9L
FOXR1
CCDC153
OR8D1
OR8D2
OR8B4
KIRREL3-AS3
CCDC84
TMEM225
OR8D4
C11orf53
LOC341056
C11orf34
BSX
OR6X1
OR6M1
OR10G4
OR10G7
OR8B3
OR8A1
C11orf87
C11orf92
C11orf88
MIR100HG
PATE2
PATE4
FLJ39051
MIRLET7A2
MIR100
MIR125B1
MIR34B
MIR34C
BLID
CARD17
HEPN1
LOC643733
LOC643923
CLDN25
LOC649133
RPL23AP64
LOC100132078
PATE3
LOC100288346
BACE1-AS
MIR4301
MIR3167
LOC100499227
MIR3656
CASP12
LOC100526771
HSPB2-C11orf52
FXYD6-FXYD2
MIR4493
MIR4491
MIR4492
LOC100652768
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 12q12.

Table S57.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
NELL2
TMEM117
Genes in Wide Peak

This is the comprehensive list of deleted genes in the wide peak for 12q24.21.

Table S58.  Genes in bold are cancer genes as defined by The Sanger Institute's Cancer Gene Census [7].

Genes
ALDH2
BCL7A
PTPN11
hsa-mir-4304
hsa-mir-1178
hsa-mir-620
hsa-mir-1302-1
hsa-mir-619
ACACB
ACADS
ATP2A2
SCARB1
CMKLR1
COX6A1
CRY1
DAO
DTX1
EIF2B1
STX2
GOLGA3
GTF2H3
HPD
MMP17
MSI1
MVK
MYL2
NFYB
NOS1
OAS1
OAS2
OAS3
P2RX4
P2RX7
PEBP1
PLA2G1B
POLE
PPP1CC
PRKAB1
PSMD9
PXMP2
PXN
RAN
RFC5
RFX4
RPL6
RPLP0
CLIP1
ATXN2
SELPLG
SFSWAP
TBX5
TBX3
HNF1A
TDG
HSP90B1
TXNRD1
UBC
UNG
ZNF10
ZNF26
ZNF84
ZNF140
CDK2AP1
BRAP
ULK1
RASAL1
MAPKAPK5
DENR
OASL
DYNLL1
SRSF9
HRK
ADAM1
HCAR3
HIP1R
PIWIL1
CABP1
NCOR2
WSCD2
SART3
KNTC1
MLEC
GIT2
NUAK1
RBM19
RNF10
SH2B3
ARPC3
MPHOSPH9
CAMKK2
ZNF268
TRAFD1
TMED2
ERP29
CKAP4
GCN1L1
SDS
RAB35
SNRNP35
PRDM4
CIT
PWP1
FICD
FZD10
MLXIP
RPH3A
P2RX2
FBXO21
SETD1B
ANKLE2
CUX2
KIAA1033
MED13L
SIRT4
ABCB9
ISCU
RIMBP2
ATP6V0A2
CORO1C
FBXW8
HSPB8
HCAR1
IFT81
FAM216A
HCFC2
CHST11
GALNT9
GPN3
GLTP
C12orf47
ARL6IP4
TAOK3
POP5
ANAPC5
ANAPC7
TRIAP1
NT5DC3
VPS29
TPCN1
SSH1
RHOF
VSIG10
TESC
RIC8B
APPL2
SBNO1
SVOP
STAB2
ZCCHC8
POLR3B
CHFR
WSB2
DIABLO
PITPNM2
EP400
DHX37
FBRSL1
DDX55
TRPV4
LHX5
SUDS3
C12orf43
VPS33A
RSRC2
AACS
DDX54
NOC4L
B3GNT4
TCTN1
OGFOD2
VPS37B
C12orf49
TCTN2
NAA25
SLC24A6
RNF34
CCDC92
MTERFD3
PUS1
ACAD10
GLT8D2
KCTD10
SLC41A2
TCHP
COQ5
HVCN1
SRRM4
CCDC62
KDM2B
UNC119B
USP30
ORAI1
RNFT2
C12orf34
C12orf52
MGC14436
ANKRD13A
TMEM116
UBE3B
C12orf23
C12orf65
TMEM132C
CCDC64
SDSL
TMEM132B
IQCD
LOC116437
C12orf45
TMEM132D
SLC15A4
ASCL4
BTBD11
ALKBH2
FOXN4
SPPL3
BRI3BP
FAM101A
ZNF664
TMEM120B
WDR66
GLT1D1
RAD9B
FAM109A
LOC144742
ALDH1L2
PPTC7
CCDC63
CCDC60
PGAM5
RILPL2
DNAH10
PLBD2
GNN
LRRC43
TCP11L2
LOC255480
GPR133
MORN3
MYO1H
C12orf51
KSR2
GATC
HNF1A-AS1
DDX51
MMAB
HCAR2
TMEM119
LOC338799
EP400NL
RILPL1
C12orf42
IL31
C12orf75
CCDC42B
TMEM233
SETD8
LOC387895
C12orf76
LOC400084
FLJ37505
LOC440117
FLJ31485
EID3
MAP1LC3B2
LOC647589
SNORA49
MIR620
C12orf73
LOC728739
LOC100128554
LOC100130238
LOC100131138
LOC100131733
LOC100190940
LINC00173
LOC100287944
ZNF605
MIR1178
MIR4304
MIR3612
MIR3652
MIR3922
MIR3908
LOC100505978
LOC100506649
LOC100506668
LOC100507055
LOC100507066
LOC100507091
LOC100507206
ZNF664-FAM101A
MIR4498
MIR4472-2
MIR4700
MIR4497
Arm-level results

Table 3.  Get Full Table Arm-level significance table - 19 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 0.15 1.04 0.747 0.14 0.778 0.473
1q 1955 0.43 9.93 0 0.10 -0.67 1
2p 924 0.12 -1.25 1 0.00 -4.47 1
2q 1556 0.07 -2.26 1 0.00 -4.23 1
3p 1062 0.04 -3.05 1 0.21 1.58 0.175
3q 1139 0.12 -0.863 1 0.12 -0.863 1
4p 489 0.09 -2.13 1 0.13 -1.26 1
4q 1049 0.04 -3.3 1 0.13 -0.746 1
5p 270 0.46 7.93 2.22e-14 0.09 -1.92 1
5q 1427 0.16 0.471 1 0.18 1.19 0.336
6p 1173 0.15 -0.103 1 0.11 -1.27 1
6q 839 0.08 -2.25 1 0.24 2.25 0.0545
7p 641 0.41 7.1 8.36e-12 0.06 -2.55 1
7q 1277 0.28 4.07 0.000186 0.02 -3.27 1
8p 580 0.16 -0.321 1 0.40 6.33 4.91e-09
8q 859 0.38 6.44 5.93e-10 0.10 -1.35 1
9p 422 0.08 -2.28 1 0.30 3.53 0.00137
9q 1113 0.03 -3.25 1 0.22 2.11 0.0639
10p 409 0.11 -1.75 1 0.11 -1.75 1
10q 1268 0.08 -1.87 1 0.11 -1.16 1
11p 862 0.09 -2.05 1 0.07 -2.51 1
11q 1515 0.15 0.425 1 0.09 -1.52 1
12p 575 0.19 0.54 1 0.20 0.757 0.473
12q 1447 0.15 0.161 1 0.11 -1.04 1
13q 654 0.07 -2.42 1 0.30 3.75 0.000706
14q 1341 0.14 -0.0178 1 0.15 0.219 0.826
15q 1355 0.07 -2.16 1 0.25 3.07 0.00527
16p 872 0.14 -0.601 1 0.11 -1.28 1
16q 702 0.10 -1.84 1 0.16 -0.0558 0.995
17p 683 0.11 -1.49 1 0.32 4.22 0.000164
17q 1592 0.24 3.11 0.00617 0.06 -2.03 1
18p 143 0.12 -1.49 1 0.22 1.03 0.383
18q 446 0.07 -2.58 1 0.29 3.25 0.00325
19p 995 0.04 -2.86 1 0.36 6.05 1.48e-08
19q 1709 0.11 -0.646 1 0.26 4.04 0.000267
20p 355 0.17 -0.0888 1 0.21 0.976 0.387
20q 753 0.22 1.47 0.401 0.14 -0.522 1
21q 509 0.15 -0.494 1 0.21 1.02 0.383
22q 921 0.04 -3.08 1 0.22 1.94 0.0881
Xq 1312 0.16 0.535 1 0.22 2.18 0.0588
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.

  • Gene GISTIC: When enabled (value = 1), this option causes GISTIC to analyze deletions using genes instead of array markers to locate the lesion. In this mode, the copy number assigned to a gene is the lowest copy number among the markers that represent the gene.

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/PrepareGisticDNASeq/LUAD-TP/4426083/segmentationfile.txt

  • Markers File = /xchip/cga/gdac-prod/tcga-gdac/jobResults/PrepareGisticDNASeq/LUAD-TP/4426083/markersfile.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 = 0.3

  • Deletion Threshold = 0.3

  • Cap Values = 2

  • Broad Length Cutoff = 0.5

  • Remove X-Chromosome = 0

  • Confidence Level = 0.99

  • Join Segment Size = 10

  • Arm Level Peel Off = 1

  • Maximum Sample Segments = 10000

  • Gene GISTIC = 0

Table 4.  Get Full Table First 10 out of 120 Input Tumor Samples.

Tumor Sample Names
TCGA-05-4249-01A-01D-1103-02
TCGA-05-4250-01A-01D-1103-02
TCGA-05-4382-01A-01D-1203-02
TCGA-05-4384-01A-01D-1751-02
TCGA-05-4389-01A-01D-1203-02
TCGA-05-4390-01A-02D-1751-02
TCGA-05-4395-01A-01D-1203-02
TCGA-05-4396-01A-21D-1853-02
TCGA-05-4397-01A-01D-1203-02
TCGA-05-4398-01A-01D-1203-02

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

In addition to the links below, the full results of the analysis summarized in this report can also be downloaded programmatically using firehose_get, or interactively from either the Broad GDAC website or TCGA Data Coordination Center Portal.

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)