Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_status	validation_method	validation_tumor_sample	validation_alt_allele
NUP210L	91181	broad.mit.edu	37	1	154002614	154002614	+	Intron	DEL	T	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154002614delT	uc001fdw.2	-						NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Intron	NM_207308	NP_997191			nucleoporin 210kDa-like isoform 1							integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)															---	---	---	---
MTX1	4580	broad.mit.edu	37	1	155179076	155179076	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155179076delG	uc001fjb.2	+	1	587	c.481delG	c.(481-483)GGGfs	p.G161fs	RAG1AP1_uc010pey.1_Intron|THBS3_uc001fix.2_5'Flank|THBS3_uc009wqi.2_5'Flank|THBS3_uc001fiz.2_5'Flank|THBS3_uc001fiy.2_5'Flank|THBS3_uc010pfu.1_5'Flank|THBS3_uc010pfv.1_5'Flank|THBS3_uc001fja.2_5'Flank|THBS3_uc009wqj.1_5'Flank|MTX1_uc001fjc.2_Frame_Shift_Del_p.G161fs	NM_002455	NP_002446	Q13505	MTX1_HUMAN	metaxin 1 isoform 1	161					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			skin(1)	1	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
FCRL1	115350	broad.mit.edu	37	1	157774037	157774037	+	Intron	DEL	C	-	-	rs71658497		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157774037delC	uc001frg.2	-						FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Intron|FCRL1_uc001fri.2_Intron|FCRL1_uc001frj.2_Intron	NM_052938	NP_443170			Fc receptor-like 1 isoform 1 precursor							integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)															---	---	---	---
NMNAT2	23057	broad.mit.edu	37	1	183243062	183243063	+	Intron	INS	-	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183243062_183243063insT	uc001gqc.1	-						NMNAT2_uc009wye.1_Intron|NMNAT2_uc001gqb.1_Intron	NM_015039	NP_055854			nicotinamide mononucleotide adenylyltransferase						water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			skin(1)	1																		---	---	---	---
CPSF3	51692	broad.mit.edu	37	2	9611342	9611343	+	Intron	INS	-	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:9611342_9611343insA	uc002qzo.1	+						CPSF3_uc002qzp.1_Intron|CPSF3_uc002qzq.1_Intron	NM_016207	NP_057291			cleavage and polyadenylation specific factor 3,						histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			breast(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)														---	---	---	---
DNAJC27	51277	broad.mit.edu	37	2	25180474	25180475	+	Intron	INS	-	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25180474_25180475insA	uc002rft.1	-						DNAJC27_uc010ykn.1_Intron|DNAJC27_uc002rfu.1_Intron|DNAJC27_uc010eyg.1_Intron	NM_016544	NP_057628			DnaJ (Hsp40) homolog, subfamily C, member 27						protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			skin(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	67267678	67267679	+	IGR	DEL	AC	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:67267678_67267679delAC								MEIS1 (467788 upstream) : ETAA1 (356763 downstream)																																			---	---	---	---
MOBKL1B	55233	broad.mit.edu	37	2	74394389	74394389	+	Intron	DEL	T	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74394389delT	uc002skh.3	-						MOBKL1B_uc002ski.2_Intron	NM_018221	NP_060691			Mob4B protein						hippo signaling cascade		metal ion binding|protein binding				0																		---	---	---	---
MCM6	4175	broad.mit.edu	37	2	136630023	136630026	+	Intron	DEL	AAAC	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136630023_136630026delAAAC	uc002tuw.2	-							NM_005915	NP_005906			minichromosome maintenance complex component 6						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)													---	---	---	---
ARPC2	10109	broad.mit.edu	37	2	219090419	219090436	+	Intron	DEL	CTGGCCTTCCTTTTTTAT	-	-	rs6757125	by1000genomes;by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219090419_219090436delCTGGCCTTCCTTTTTTAT	uc002vhd.2	+						ARPC2_uc002vhe.2_Intron	NM_152862	NP_690601			actin related protein 2/3 complex subunit 2						cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)														---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228118589	228118589	+	Intron	DEL	A	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228118589delA	uc002vom.1	+						COL4A3_uc002von.1_Intron|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082			alpha 3 type IV collagen isoform 1 precursor						activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)														---	---	---	---
Unknown	0	broad.mit.edu	37	2	229640785	229640786	+	IGR	INS	-	AAGG	AAGG	rs36201553		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:229640785_229640786insAAGG								SPHKAP (594424 upstream) : PID1 (247904 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	2	237209274	237209275	+	IGR	INS	-	TCCT	TCCT	rs59878840		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:237209274_237209275insTCCT								ASB18 (36286 upstream) : IQCA1 (23519 downstream)																																			---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4729949	4729950	+	Intron	INS	-	C	C	rs150466778	by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4729949_4729950insC	uc003bqa.2	+						ITPR1_uc010hca.1_Intron|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Intron	NM_001099952	NP_001093422			inositol 1,4,5-triphosphate receptor, type 1						activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
PLCL2	23228	broad.mit.edu	37	3	17076915	17076916	+	Intron	INS	-	C	C	rs144807695	by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:17076915_17076916insC	uc011awc.1	+						PLCL2_uc011awd.1_Intron	NM_001144382	NP_001137854			phospholipase C-like 2 isoform 1						intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4																		---	---	---	---
USP4	7375	broad.mit.edu	37	3	49339623	49339623	+	Intron	DEL	A	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49339623delA	uc003cwq.2	-						USP4_uc003cwo.2_Intron|USP4_uc003cwp.2_Intron|USP4_uc003cwr.2_Intron	NM_003363	NP_003354			ubiquitin specific protease 4 isoform a						negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)														---	---	---	---
Unknown	0	broad.mit.edu	37	3	53089059	53089062	+	IGR	DEL	TGTG	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53089059_53089062delTGTG								SFMBT1 (8989 upstream) : RFT1 (33441 downstream)																																			---	---	---	---
GAK	2580	broad.mit.edu	37	4	887513	887514	+	Intron	INS	-	C	C	rs150187790	by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:887513_887514insC	uc003gbm.3	-						GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbl.3_Intron	NM_005255	NP_005246			cyclin G associated kinase						cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)														---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21755645	21755645	+	Intron	DEL	A	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:21755645delA	uc010iuc.2	-						CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Intron|uc003jgj.2_Intron	NM_004061	NP_004052			cadherin 12, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2															HNSCC(59;0.17)			---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160067471	160067472	+	Frame_Shift_Ins	INS	-	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:160067471_160067472insA	uc003lym.1	-	10	1843_1844	c.996_997insT	c.(994-999)GCTGTAfs	p.A332fs	ATP10B_uc003lyp.2_Frame_Shift_Ins_p.A332fs|ATP10B_uc011deg.1_Frame_Shift_Ins_p.A376fs|ATP10B_uc003lyo.2_Frame_Shift_Ins_p.A304fs	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	332_333	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
Unknown	0	broad.mit.edu	37	6	834408	834411	+	IGR	DEL	CCTA	-	-	rs72349013		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:834408_834411delCCTA								EXOC2 (141299 upstream) : LOC285768 (126831 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	6	3222349	3222354	+	5'Flank	DEL	ACCACT	-	-	rs138227613	by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:3222349_3222354delACCACT	uc011dhu.1	+											Synthetic construct Homo sapiens gateway clone IMAGE:100018300 3' read TUBB2A mRNA.																														---	---	---	---
MRS2	57380	broad.mit.edu	37	6	24416484	24416484	+	Intron	DEL	T	-	-	rs35657958		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24416484delT	uc003neb.2	+						MRS2_uc003nea.2_Intron|MRS2_uc011djl.1_Intron|MRS2_uc011djm.1_Intron|MRS2_uc011djn.1_Intron|MRS2_uc003nec.2_Intron	NM_020662	NP_065713			MRS2-like, magnesium homeostasis factor						ion transport	integral to membrane|mitochondrial inner membrane					0																		---	---	---	---
SGK1	6446	broad.mit.edu	37	6	134492496	134492497	+	Intron	INS	-	TG	TG	rs141268381	by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:134492496_134492497insTG	uc003qen.3	-						SGK1_uc003qeo.3_Intron|SGK1_uc011ect.1_Intron|SGK1_uc011ecu.1_Intron|SGK1_uc011ecv.1_Intron|SGK1_uc011ecw.1_Intron	NM_005627	NP_005618			serum/glucocorticoid regulated kinase 1 isoform						apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)														---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87563976	87563976	+	Intron	DEL	T	-	-	rs113442861		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87563976delT	uc003ujn.2	+						ADAM22_uc003uji.1_Intron|ADAM22_uc003ujj.1_Intron|ADAM22_uc003ujk.1_Intron|ADAM22_uc003ujl.1_Intron|ADAM22_uc003ujm.2_Intron|ADAM22_uc003ujo.2_Intron|ADAM22_uc003ujp.1_5'Flank	NM_021723	NP_068369			ADAM metallopeptidase domain 22 isoform 1						cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
Unknown	0	broad.mit.edu	37	7	122684192	122684193	+	IGR	INS	-	T	T	rs138633699	by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122684192_122684193insT								TAS2R16 (48438 upstream) : SLC13A1 (69396 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	7	150302450	150302451	+	IGR	INS	-	TTCC	TTCC			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150302450_150302451insTTCC								GIMAP4 (31410 upstream) : GIMAP6 (20015 downstream)																																			---	---	---	---
RNF122	79845	broad.mit.edu	37	8	33406740	33406740	+	Intron	DEL	A	-	-	rs71899502		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:33406740delA	uc003xjo.1	-							NM_024787	NP_079063			ring finger protein 122							endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)														---	---	---	---
Unknown	0	broad.mit.edu	37	8	122304267	122304268	+	IGR	INS	-	TCCCTCCT	TCCCTCCT	rs144039194	by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:122304267_122304268insTCCCTCCT								SNTB1 (479958 upstream) : HAS2 (321003 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	8	127178246	127178277	+	IGR	DEL	CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTC	-	-	rs143003783	by1000genomes;by1000genomes;by1000genomes;by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:127178246_127178277delCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTC								TRIB1 (727604 upstream) : FAM84B (386410 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	8	138676649	138676649	+	IGR	DEL	T	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:138676649delT								None (None upstream) : FAM135B (465619 downstream)																																			---	---	---	---
MRC1	4360	broad.mit.edu	37	10	18122472	18122473	+	Intron	INS	-	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18122472_18122473insA	uc001ipm.2	+							NM_002438	NP_002429			mannose receptor C type 1 precursor						receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0																		---	---	---	---
MRC1	4360	broad.mit.edu	37	10	18198213	18198214	+	Intron	INS	-	TT	TT			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18198213_18198214insTT	uc001ipm.2	+							NM_002438	NP_002429			mannose receptor C type 1 precursor						receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	10	76829829	76829852	+	IGR	DEL	AAGGAAGGAAGGAAGGAAGGAAGG	-	-	rs71686294	by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:76829829_76829852delAAGGAAGGAAGGAAGGAAGGAAGG								DUPD1 (11557 upstream) : DUSP13 (24340 downstream)																																			---	---	---	---
BRSK2	9024	broad.mit.edu	37	11	1467277	1467291	+	Intron	DEL	GCTGGGCTGGGCTGG	-	-	rs141282726		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1467277_1467291delGCTGGGCTGGGCTGG	uc001lti.2	+						BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001ltj.2_Intron|BRSK2_uc001ltk.2_Intron|BRSK2_uc001ltl.2_Intron|BRSK2_uc001ltm.2_Intron|BRSK2_uc001ltn.2_Intron|BRSK2_uc010qwx.1_Intron	NM_003957	NP_003948			BR serine/threonine kinase 2						establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)														---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2487990	2487991	+	Intron	INS	-	TCTT	TCTT	rs147464208	by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2487990_2487991insTCTT	uc009zdu.1	+						CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Intron|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc001qkj.1_Intron|CACNA1C_uc001qkk.1_Intron|CACNA1C_uc001qkm.1_Intron	NM_199460	NP_955630			calcium channel, voltage-dependent, L type,						axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)													---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21242746	21242746	+	Intron	DEL	T	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21242746delT	uc010sil.1	+						LST-3TM12_uc010sim.1_Intron|LST-3TM12_uc010sin.1_Intron					SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)																	---	---	---	---
VPS29	51699	broad.mit.edu	37	12	110937446	110937446	+	Intron	DEL	A	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110937446delA	uc001tqy.2	-						VPS29_uc001tqw.2_5'Flank|VPS29_uc001tqx.2_Intron|VPS29_uc001tqz.2_Intron|RAD9B_uc001trc.1_5'Flank|RAD9B_uc001trf.3_5'Flank|RAD9B_uc001trg.3_5'Flank|RAD9B_uc010sya.1_5'Flank|RAD9B_uc001tre.3_5'Flank|RAD9B_uc001trd.3_5'Flank	NM_016226	NP_057310			vacuolar protein sorting 29 isoform 1						protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity				0																		---	---	---	---
PRKAB1	5564	broad.mit.edu	37	12	120110460	120110461	+	Intron	DEL	AG	-	-	rs150497180		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120110460_120110461delAG	uc009zwu.2	+						PRKAB1_uc001txg.2_Intron	NM_006253	NP_006244			AMP-activated protein kinase beta 1						cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol					0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)													---	---	---	---
Unknown	0	broad.mit.edu	37	12	128232136	128232137	+	IGR	INS	-	TTCCTTCC	TTCCTTCC	rs112816032	by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:128232136_128232137insTTCCTTCC								None (None upstream) : TMEM132C (667154 downstream)																																			---	---	---	---
SIAH3	283514	broad.mit.edu	37	13	46421758	46421759	+	Intron	DEL	GT	-	-	rs71750697		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46421758_46421759delGT	uc001vap.2	-							NM_198849	NP_942146			seven in absentia homolog 3						multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2																		---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103434431	103434432	+	Intron	INS	-	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103434431_103434432insA	uc001ymi.1	-							NM_006035	NP_006026			CDC42-binding protein kinase beta						actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)														---	---	---	---
EIF5	1983	broad.mit.edu	37	14	103805917	103805918	+	Intron	DEL	AG	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103805917_103805918delAG	uc001ymq.2	+						EIF5_uc001ymr.2_Intron|EIF5_uc001yms.2_Intron|EIF5_uc001ymt.2_Intron|EIF5_uc001ymu.2_Intron	NM_001969	NP_001960			eukaryotic translation initiation factor 5						regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			pancreas(1)|breast(1)|skin(1)	3		Melanoma(154;0.155)	Epithelial(46;0.182)															---	---	---	---
Unknown	0	broad.mit.edu	37	15	20710570	20710570	+	Intron	DEL	A	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:20710570delA	uc001ytg.2	-						uc010tyx.1_Intron|uc001yth.3_Intron					RecName: Full=Putative HERC2-like protein 3;																														---	---	---	---
ACSM3	6296	broad.mit.edu	37	16	20801007	20801007	+	Intron	DEL	T	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20801007delT	uc002dhr.2	+						ACSM3_uc010vba.1_Intron|ERI2_uc002dhs.2_Intron	NM_005622	NP_005613			SA hypertension-associated homolog isoform 1						regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			ovary(1)	1																		---	---	---	---
TPPP3	51673	broad.mit.edu	37	16	67424253	67424254	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67424253_67424254delCT	uc002esz.2	-	3	1189_1190	c.354_355delAG	c.(352-357)ACAGGGfs	p.T118fs	TPPP3_uc002eta.2_Frame_Shift_Del_p.T118fs|TPPP3_uc002etb.2_Frame_Shift_Del_p.T118fs	NM_016140	NP_057224	Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family	118_119					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)														---	---	---	---
SRCIN1	80725	broad.mit.edu	37	17	36720590	36720590	+	Intron	DEL	A	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36720590delA	uc002hqd.2	-						SRCIN1_uc002hqf.1_5'Flank|SRCIN1_uc002hqe.2_Intron|SRCIN1_uc002hqh.1_Intron	NM_025248	NP_079524			SNAP25-interacting protein						exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0																		---	---	---	---
MSI2	124540	broad.mit.edu	37	17	55334279	55334279	+	Intron	DEL	G	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:55334279delG	uc002iuz.1	+						MSI2_uc010wnm.1_Intron|MSI2_uc002iva.2_5'Flank	NM_138962	NP_620412			musashi 2 isoform a							cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|pancreas(1)	2	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)				T	HOXA9	CML								---	---	---	---
INTS2	57508	broad.mit.edu	37	17	59974795	59974795	+	Intron	DEL	T	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59974795delT	uc002izn.2	-						INTS2_uc002izm.2_Intron	NM_020748	NP_065799			integrator complex subunit 2						snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3																		---	---	---	---
TLK2	11011	broad.mit.edu	37	17	60678323	60678324	+	Intron	INS	-	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60678323_60678324insA	uc010ddp.2	+						TLK2_uc002izx.3_Intron|TLK2_uc002izz.3_Intron|TLK2_uc002jaa.3_Intron|TLK2_uc010wpd.1_Intron	NM_006852	NP_006843			tousled-like kinase 2 isoform A						cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2																		---	---	---	---
MAP2K6	5608	broad.mit.edu	37	17	67487296	67487297	+	Intron	INS	-	T	T	rs12938052		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67487296_67487297insT	uc002jij.2	+						MAP2K6_uc002jii.2_Intron	NM_002758	NP_002749			mitogen-activated protein kinase kinase 6						activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|pancreas(1)	5	Breast(10;6.05e-10)																	---	---	---	---
Unknown	0	broad.mit.edu	37	18	45293754	45293754	+	IGR	DEL	A	-	-	rs12457164		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:45293754delA								IER3IP1 (591009 upstream) : SMAD2 (65713 downstream)																																			---	---	---	---
UQCR11	10975	broad.mit.edu	37	19	1605502	1605502	+	5'Flank	DEL	G	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1605502delG	uc002ltm.2	-							NM_006830	NP_006821			ubiquinol-cytochrome c reductase, 6.4kDa						respiratory electron transport chain	integral to membrane|mitochondrial inner membrane|respiratory chain	electron carrier activity			ovary(1)|breast(1)	2																		---	---	---	---
ZNF557	79230	broad.mit.edu	37	19	7075875	7075875	+	Intron	DEL	G	-	-			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7075875delG	uc002mgb.2	+						ZNF557_uc002mga.2_Intron|ZNF557_uc002mgc.2_Intron	NM_001044388	NP_001037853			zinc finger protein 557 isoform b						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2				Lung(535;0.179)														---	---	---	---
EMR3	84658	broad.mit.edu	37	19	14746869	14746870	+	Intron	INS	-	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14746869_14746870insT	uc002mzi.3	-						EMR3_uc010dzp.2_Intron|EMR3_uc010xnv.1_Intron	NM_032571	NP_115960			egf-like module-containing mucin-like receptor						neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6																		---	---	---	---
ZNF492	57615	broad.mit.edu	37	19	22838450	22838453	+	Intron	DEL	TTAT	-	-	rs35989436		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22838450_22838453delTTAT	uc002nqw.3	+							NM_020855	NP_065906			zinc finger protein 492						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)																---	---	---	---
Unknown	0	broad.mit.edu	37	19	22919864	22919866	+	IGR	DEL	AAG	-	-	rs138340507	by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22919864_22919866delAAG								ZNF492 (69392 upstream) : ZNF99 (19143 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	19	29310867	29310868	+	IGR	DEL	TG	-	-	rs67572574	by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:29310867_29310868delTG								None (None upstream) : LOC148145 (145172 downstream)																																			---	---	---	---
C19orf12	83636	broad.mit.edu	37	19	30204883	30204884	+	Intron	INS	-	TTTCTC	TTTCTC	rs145275910	by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30204883_30204884insTTTCTC	uc002nsk.2	-						C19orf12_uc002nsj.2_Intron|C19orf12_uc002nsl.2_Intron|C19orf12_uc002nsm.2_Intron	NM_031448	NP_113636			hypothetical protein LOC83636 isoform 2							integral to membrane					0	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)															---	---	---	---
Unknown	0	broad.mit.edu	37	19	32734722	32734723	+	IGR	DEL	GC	-	-	rs3037586		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:32734722_32734723delGC								TSHZ3 (894532 upstream) : ZNF507 (101791 downstream)																																			---	---	---	---
FXYD3	5349	broad.mit.edu	37	19	35609260	35609262	+	Intron	DEL	AAA	-	-	rs10556384		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35609260_35609262delAAA	uc010xsn.1	+						FXYD3_uc010xsj.1_Intron|FXYD3_uc010xsk.1_Intron|FXYD3_uc010xsl.1_Intron|FXYD3_uc010xsm.1_Intron|FXYD3_uc002nxw.2_Intron|FXYD3_uc002nxv.2_Intron|FXYD3_uc010xso.1_Intron	NM_001136011	NP_001129483			FXYD domain containing ion transport regulator 3							chloride channel complex|integral to plasma membrane	chloride channel activity				0	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)															---	---	---	---
Unknown	0	broad.mit.edu	37	19	49715837	49715838	+	IGR	INS	-	CTTC	CTTC	rs76677262		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49715837_49715838insCTTC								TRPM4 (746 upstream) : SLC6A16 (77056 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	22	25855682	25855683	+	Intron	INS	-	GT	GT	rs138963277	by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:25855682_25855683insGT	uc003abt.2	+						uc003abu.2_Intron|uc003abv.2_Intron					Homo sapiens cDNA clone IMAGE:3542716, partial cds.																														---	---	---	---
TCN2	6948	broad.mit.edu	37	22	31019235	31019236	+	Intron	INS	-	C	C	rs148568974	by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31019235_31019236insC	uc003aip.1	+						TCN2_uc003aiq.1_Intron|TCN2_uc003air.1_Intron	NM_000355	NP_000346			transcobalamin II precursor						cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---
POLR2F	5435	broad.mit.edu	37	22	38355725	38355725	+	Intron	DEL	A	-	-	rs72332168		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38355725delA	uc003aul.2	+						POLR2F_uc010gxi.2_Intron|POLR2F_uc003aum.2_Intron	NM_021974	NP_068809			DNA directed RNA polymerase II polypeptide F						mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)	1	Melanoma(58;0.045)																	---	---	---	---
CD99	4267	broad.mit.edu	37	X	2637596	2637597	+	Intron	INS	-	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2637596_2637597insA	uc004cqm.2	+						CD99_uc010nda.2_Intron|CD99_uc004cqn.2_Intron|CD99_uc004cqo.2_Intron	NM_002414	NP_002405			CD99 antigen isoform a precursor						cell adhesion	cytoplasm|integral to plasma membrane				skin(1)	1																		---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	41979398	41979398	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:41979398C>A	uc001cgz.3	-	8	6707	c.5494G>T	c.(5494-5496)GAC>TAC	p.D1832Y	HIVEP3_uc001cha.3_Missense_Mutation_p.D1832Y|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1832	Acidic 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---
ARTN	9048	broad.mit.edu	37	1	44401761	44401761	+	Intron	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44401761G>A	uc001cks.2	+						ARTN_uc001ckv.2_Silent_p.A27A|ARTN_uc001ckt.2_Silent_p.A27A|ARTN_uc001cku.2_Intron|ARTN_uc001ckw.2_Silent_p.A36A	NM_057091	NP_476432			neurotrophic factor artemin isoform 1 precursor						axon guidance|neuroblast proliferation|signal transduction	extracellular region	growth factor activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)																---	---	---	---
FGGY	55277	broad.mit.edu	37	1	60073530	60073530	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:60073530T>A	uc001czi.3	+	9	1171	c.959T>A	c.(958-960)ATG>AAG	p.M320K	FGGY_uc001czg.2_Missense_Mutation_p.M208K|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.M320K|FGGY_uc001czj.3_Missense_Mutation_p.M319K|FGGY_uc001czk.3_Missense_Mutation_p.M208K|FGGY_uc001czl.3_Missense_Mutation_p.M232K|FGGY_uc001czm.3_Missense_Mutation_p.M21K	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	320					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)																	---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	63119745	63119745	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:63119745C>T	uc001daq.2	-	3	264	c.230G>A	c.(229-231)CGG>CAG	p.R77Q	DOCK7_uc001dan.2_5'Flank|DOCK7_uc001dao.2_5'Flank|DOCK7_uc001dap.2_Missense_Mutation_p.R77Q|DOCK7_uc009wah.1_Missense_Mutation_p.R77Q	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	77					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2																		---	---	---	---
SERBP1	26135	broad.mit.edu	37	1	67895811	67895811	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67895811G>A	uc001ddv.2	-	1	313	c.173C>T	c.(172-174)GCG>GTG	p.A58V	SERBP1_uc001ddx.2_Missense_Mutation_p.A58V|SERBP1_uc001ddy.2_Missense_Mutation_p.A58V|SERBP1_uc001ddw.2_Missense_Mutation_p.A58V	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1 isoform 1	58					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1																		---	---	---	---
MTF2	22823	broad.mit.edu	37	1	93594824	93594824	+	Intron	SNP	T	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:93594824T>A	uc009wdj.2	+						MTF2_uc010oth.1_Intron|MTF2_uc009wdk.2_Intron|MTF2_uc001dpi.3_Intron|MTF2_uc010oti.1_Intron|MTF2_uc001dpj.3_Intron|MTF2_uc001dpl.3_Intron|MTF2_uc001dpm.3_5'UTR	NM_007358	NP_031384			metal response element binding transcription							nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)														---	---	---	---
TMEM56	148534	broad.mit.edu	37	1	95609526	95609526	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:95609526C>A	uc001drb.2	+	2	360	c.69C>A	c.(67-69)TTC>TTA	p.F23L	RWDD3_uc001drd.3_Missense_Mutation_p.F23L|TMEM56_uc001drc.2_Missense_Mutation_p.F23L	NM_152487	NP_689700	Q96MV1	TMM56_HUMAN	transmembrane protein 56	23	Helical; (Potential).					integral to membrane					0		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)														---	---	---	---
NTNG1	22854	broad.mit.edu	37	1	107691262	107691262	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:107691262T>A	uc001dvh.3	+	2	765	c.47T>A	c.(46-48)GTG>GAG	p.V16E	NTNG1_uc001dvf.3_Missense_Mutation_p.V16E|NTNG1_uc010out.1_Missense_Mutation_p.V16E|NTNG1_uc001dvc.3_Missense_Mutation_p.V16E|NTNG1_uc001dvd.1_Missense_Mutation_p.V16E	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	16					axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)														---	---	---	---
STXBP3	6814	broad.mit.edu	37	1	109342845	109342845	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109342845G>A	uc001dvy.2	+	17	1528	c.1453G>A	c.(1453-1455)GCT>ACT	p.A485T	STXBP3_uc001dvz.2_RNA	NM_007269	NP_009200	O00186	STXB3_HUMAN	syntaxin binding protein 3	485					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			ovary(3)|central_nervous_system(1)	4		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)														---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152328248	152328248	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152328248C>T	uc001ezw.3	-	3	2087	c.2014G>A	c.(2014-2016)GTT>ATT	p.V672I	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	672	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576420	158576420	+	Silent	SNP	C	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158576420C>A	uc010pio.1	+	1	192	c.192C>A	c.(190-192)TCC>TCA	p.S64S		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)																	---	---	---	---
GAS5	60674	broad.mit.edu	37	1	173833295	173833295	+	Intron	SNP	A	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173833295A>G	uc001gji.2	-						GAS5_uc001gjj.2_Intron|GAS5_uc001gjk.2_Intron					Homo sapiens mRNA; cDNA DKFZp564D0164 (from clone DKFZp564D0164).												0																		---	---	---	---
FAM5B	57795	broad.mit.edu	37	1	177250031	177250031	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:177250031G>C	uc001glf.2	+	8	2031	c.1719G>C	c.(1717-1719)CAG>CAC	p.Q573H	FAM5B_uc001glg.2_Missense_Mutation_p.Q468H	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	573						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198719669	198719669	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198719669G>T	uc001gur.1	+	29	3295	c.3115G>T	c.(3115-3117)GAG>TAG	p.E1039*	PTPRC_uc001gus.1_Nonsense_Mutation_p.E991*|PTPRC_uc001gut.1_Nonsense_Mutation_p.E878*	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1039	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12																		---	---	---	---
CHIT1	1118	broad.mit.edu	37	1	203188783	203188783	+	Intron	SNP	T	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203188783T>G	uc001gzn.2	-						FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Intron|CHIT1_uc009xam.1_Intron|CHIT1_uc009xan.1_Intron|CHIT1_uc001gzo.2_Intron	NM_003465	NP_003456			chitotriosidase precursor						chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0																		---	---	---	---
C1orf116	79098	broad.mit.edu	37	1	207198408	207198408	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207198408C>T	uc001hfd.2	-	3	366	c.107G>A	c.(106-108)AGT>AAT	p.S36N	C1orf116_uc009xcb.1_Translation_Start_Site	NM_023938	NP_076427	Q9BW04	SARG_HUMAN	specifically androgen-regulated protein isoform	36						cytoplasm|plasma membrane	receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Prostate(682;0.19)																	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237774171	237774171	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237774171G>A	uc001hyl.1	+	36	4913	c.4793G>A	c.(4792-4794)AGA>AAA	p.R1598K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1598	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---
MAP1LC3C	440738	broad.mit.edu	37	1	242159615	242159615	+	Silent	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242159615G>A	uc001hzk.2	-	4	369	c.294C>T	c.(292-294)AGC>AGT	p.S98S		NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3	98					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(106;0.0188)															---	---	---	---
CEP170	9859	broad.mit.edu	37	1	243328999	243328999	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:243328999C>T	uc001hzs.2	-	13	2671	c.2263G>A	c.(2263-2265)GAG>AAG	p.E755K	CEP170_uc001hzt.2_Missense_Mutation_p.E657K|CEP170_uc001hzu.2_Missense_Mutation_p.E657K|CEP170_uc001hzv.1_Missense_Mutation_p.E133K	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	755						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)															---	---	---	---
IAH1	285148	broad.mit.edu	37	2	9624561	9624561	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:9624561G>T	uc002qzr.2	+	5	472	c.446G>T	c.(445-447)GGT>GTT	p.G149V	IAH1_uc002qzs.2_Missense_Mutation_p.G36V|IAH1_uc002qzt.2_Missense_Mutation_p.G36V|IAH1_uc010yiz.1_RNA	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog	149					lipid catabolic process		hydrolase activity, acting on ester bonds				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
TET3	200424	broad.mit.edu	37	2	74328640	74328640	+	Silent	SNP	G	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74328640G>C	uc002skb.3	+	9	4320	c.4320G>C	c.(4318-4320)CTG>CTC	p.L1440L		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1440							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---
IL1RL2	8808	broad.mit.edu	37	2	102804325	102804325	+	5'UTR	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102804325G>A	uc002tbs.2	+	2					IL1RL2_uc002tbt.2_Nonsense_Mutation_p.W26*	NM_003854	NP_003845			interleukin 1 receptor-like 2 precursor						cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2																		---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168104460	168104460	+	Silent	SNP	T	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168104460T>G	uc002udx.2	+	8	6576	c.6558T>G	c.(6556-6558)ACT>ACG	p.T2186T	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T2011T|XIRP2_uc010fpq.2_Silent_p.T1964T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2011					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168107180	168107180	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168107180G>A	uc002udx.2	+	8	9296	c.9278G>A	c.(9277-9279)CGT>CAT	p.R3093H	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R2918H|XIRP2_uc010fpq.2_Missense_Mutation_p.R2871H|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2918					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---
PGAP1	80055	broad.mit.edu	37	2	197708744	197708744	+	Nonsense_Mutation	SNP	G	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197708744G>C	uc002utw.2	-	25	2507	c.2393C>G	c.(2392-2394)TCA>TGA	p.S798*	PGAP1_uc002utx.2_Nonsense_Mutation_p.S624*|PGAP1_uc010fsi.2_Nonsense_Mutation_p.S72*	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	798	Cytoplasmic (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
NBEAL1	65065	broad.mit.edu	37	2	204000806	204000806	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:204000806T>A	uc002uzt.3	+	27	4466	c.4133T>A	c.(4132-4134)ATT>AAT	p.I1378N	NBEAL1_uc002uzs.3_Missense_Mutation_p.I88N	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	1378							binding			ovary(1)|skin(1)	2																		---	---	---	---
NEU4	129807	broad.mit.edu	37	2	242758315	242758315	+	Missense_Mutation	SNP	G	A	A	rs144038379	by1000genomes	TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242758315G>A	uc010fzr.2	+	4	1482	c.1396G>A	c.(1396-1398)GCC>ACC	p.A466T	NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Missense_Mutation_p.A466T|NEU4_uc002wcn.1_Missense_Mutation_p.A478T|NEU4_uc002wco.1_Missense_Mutation_p.A466T|NEU4_uc002wcp.1_Missense_Mutation_p.A478T	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN	sialidase 4	466						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)														---	---	---	---
EPM2AIP1	9852	broad.mit.edu	37	3	37033459	37033459	+	Silent	SNP	G	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37033459G>C	uc003cgk.2	-	1	1337	c.1110C>G	c.(1108-1110)GTC>GTG	p.V370V	MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	EPM2A interacting protein 1	370						endoplasmic reticulum					0																		---	---	---	---
HHATL	57467	broad.mit.edu	37	3	42740622	42740622	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42740622C>A	uc003clw.2	-	5	337	c.190G>T	c.(190-192)GAG>TAG	p.E64*	HHATL_uc003clx.2_Nonsense_Mutation_p.E64*	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	64					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.215)														---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52392752	52392752	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52392752C>T	uc011bef.1	+	25	4526	c.4265C>T	c.(4264-4266)ACG>ATG	p.T1422M		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1422	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74351856	74351856	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:74351856C>G	uc003dpm.1	-	13	1851	c.1771G>C	c.(1771-1773)GAC>CAC	p.D591H		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	591	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)														---	---	---	---
OR5H14	403273	broad.mit.edu	37	3	97869090	97869090	+	Silent	SNP	C	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97869090C>G	uc003dsg.1	+	1	861	c.861C>G	c.(859-861)CCC>CCG	p.P287P		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
ZBED2	79413	broad.mit.edu	37	3	111312961	111312961	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111312961C>G	uc003dxy.2	-	2	973	c.88G>C	c.(88-90)GAG>CAG	p.E30Q	CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	zinc finger, BED domain containing 2	30							DNA binding|metal ion binding			skin(1)	1																		---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111659435	111659435	+	Silent	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111659435G>A	uc010hqa.2	+	8	2751	c.2340G>A	c.(2338-2340)CAG>CAA	p.Q780Q	PHLDB2_uc003dyc.2_Silent_p.Q764Q|PHLDB2_uc003dyd.2_Silent_p.Q737Q|PHLDB2_uc003dyg.2_Silent_p.Q780Q|PHLDB2_uc003dyh.2_Silent_p.Q737Q|PHLDB2_uc003dyi.2_Silent_p.Q366Q	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	780	Potential.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6																		---	---	---	---
WDR52	55779	broad.mit.edu	37	3	113120574	113120574	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113120574C>T	uc003eae.1	-	10	1229	c.1183G>A	c.(1183-1185)GAG>AAG	p.E395K		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	395	WD 4.									central_nervous_system(1)	1																		---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121445864	121445864	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121445864C>T	uc003eei.3	-	5	553	c.427G>A	c.(427-429)GAG>AAG	p.E143K	GOLGB1_uc010hrc.2_Missense_Mutation_p.E143K|GOLGB1_uc003eej.3_Missense_Mutation_p.E104K|GOLGB1_uc011bjm.1_Missense_Mutation_p.E104K|GOLGB1_uc010hrd.1_Missense_Mutation_p.E143K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	143	Potential.|Cytoplasmic (Potential).				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124732235	124732235	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124732235G>T	uc003ehs.3	-	6	2256	c.2188C>A	c.(2188-2190)CCA>ACA	p.P730T	HEG1_uc011bke.1_Missense_Mutation_p.P830T	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	730	Extracellular (Potential).|Ser-rich.					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	3	129130190	129130190	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129130190G>C	uc003emg.2	-	5	1009	c.846C>G	c.(844-846)ATC>ATG	p.I282M		NM_207307	NP_997190			hypothetical protein LOC90288																														---	---	---	---
NDST3	9348	broad.mit.edu	37	4	119059215	119059215	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119059215G>A	uc003ibx.2	+	5	1634	c.1231G>A	c.(1231-1233)GGC>AGC	p.G411S	NDST3_uc011cgf.1_Missense_Mutation_p.G330S	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	411	Lumenal (Potential).|Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1																		---	---	---	---
PAM	5066	broad.mit.edu	37	5	102353112	102353112	+	Silent	SNP	C	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102353112C>A	uc003knw.2	+	21	2779	c.2406C>A	c.(2404-2406)ACC>ACA	p.T802T	PAM_uc003kns.2_Silent_p.T695T|PAM_uc003knt.2_Silent_p.T802T|PAM_uc003knu.2_Silent_p.T802T|PAM_uc003knv.2_Silent_p.T802T|PAM_uc011cuz.1_Silent_p.T705T|PAM_uc003knz.2_Silent_p.T42T	NM_000919	NP_000910	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	802	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).|Intragranular (Potential).|NHL 5.				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding				0		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)													---	---	---	---
CYFIP2	26999	broad.mit.edu	37	5	156714037	156714037	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156714037G>C	uc003lwq.2	+	3	265	c.127G>C	c.(127-129)GAC>CAC	p.D43H	CYFIP2_uc011ddn.1_Missense_Mutation_p.D43H|CYFIP2_uc011ddo.1_Missense_Mutation_p.D43H|CYFIP2_uc003lwr.2_Missense_Mutation_p.D43H|CYFIP2_uc003lws.2_Missense_Mutation_p.D43H|CYFIP2_uc003lwp.2_5'UTR	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	43					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
SCAND3	114821	broad.mit.edu	37	6	28543037	28543037	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28543037C>G	uc003nlo.2	-	3	2063	c.1445G>C	c.(1444-1446)AGG>ACG	p.R482T		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	482	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
RGL2	5863	broad.mit.edu	37	6	33263368	33263368	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33263368C>A	uc003odv.2	-	7	1070	c.937G>T	c.(937-939)GAG>TAG	p.E313*	RGL2_uc003odu.2_5'UTR|RGL2_uc010jur.2_5'UTR|RGL2_uc003odw.2_Nonsense_Mutation_p.E231*|RGL2_uc011drb.1_Nonsense_Mutation_p.E231*	NM_004761	NP_004752	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation	313	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			skin(3)|lung(1)|breast(1)|pancreas(1)	6																		---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33652629	33652629	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33652629A>G	uc011drk.1	+	39	5435	c.5216A>G	c.(5215-5217)GAC>GGC	p.D1739G	ITPR3_uc003oey.2_5'Flank	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1739	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19																		---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43223394	43223394	+	Intron	SNP	G	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43223394G>T	uc003ouq.1	+							NM_032538	NP_115927			tau tubulin kinase 1							cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)															---	---	---	---
EYS	346007	broad.mit.edu	37	6	66063378	66063378	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:66063378C>T	uc011dxu.1	-	9	1970	c.1432G>A	c.(1432-1434)GAA>AAA	p.E478K	EYS_uc003peq.2_Missense_Mutation_p.E478K|EYS_uc003per.1_Missense_Mutation_p.E478K	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	478					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6																		---	---	---	---
KHDC1	80759	broad.mit.edu	37	6	73952192	73952192	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73952192G>A	uc003pgo.2	-	3	769	c.268C>T	c.(268-270)CCT>TCT	p.P90S	KHDC1_uc011dyl.1_RNA|KHDC1_uc003pgn.3_Missense_Mutation_p.P17S	NM_030568	NP_085045	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	90						integral to membrane	RNA binding			skin(1)	1																		---	---	---	---
MRAP2	112609	broad.mit.edu	37	6	84798909	84798909	+	Silent	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:84798909C>T	uc003pkg.3	+	4	517	c.327C>T	c.(325-327)AAC>AAT	p.N109N	MRAP2_uc010kbo.2_Silent_p.N23N	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	109					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			skin(2)	2																		---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102247533	102247533	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:102247533C>T	uc003pqp.3	+	7	1211	c.962C>T	c.(961-963)GCT>GTT	p.A321V	GRIK2_uc003pqn.2_Missense_Mutation_p.A321V|GRIK2_uc003pqo.3_Missense_Mutation_p.A321V|GRIK2_uc010kcw.2_Missense_Mutation_p.A321V	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	321	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)													---	---	---	---
PERP	64065	broad.mit.edu	37	6	138428360	138428360	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:138428360C>T	uc003qht.2	-	1	301	c.118G>A	c.(118-120)GAC>AAC	p.D40N		NM_022121	NP_071404	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	40					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus					0	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)														---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152730368	152730368	+	Intron	SNP	A	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152730368A>T	uc010kiw.2	-						SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron	NM_182961	NP_892006			spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
C7orf70	84792	broad.mit.edu	37	7	6370486	6370486	+	Silent	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6370486C>T	uc003spu.2	-	2	768	c.300G>A	c.(298-300)CCG>CCA	p.P100P		NM_001037163	NP_001032240	Q7Z4H9	SIPAR_HUMAN	hypothetical protein LOC84792	100						nucleus					0																		---	---	---	---
OGDH	4967	broad.mit.edu	37	7	44687316	44687316	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44687316T>C	uc003tln.2	+	4	584	c.475T>C	c.(475-477)TCC>CCC	p.S159P	OGDH_uc003tlm.2_Missense_Mutation_p.S159P|OGDH_uc011kbx.1_Intron|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Intron|OGDH_uc011kbz.1_Silent_p.T5T|OGDH_uc003tlo.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	159					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)													---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121653684	121653684	+	Silent	SNP	T	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121653684T>C	uc003vjy.2	+	12	4979	c.4584T>C	c.(4582-4584)AGT>AGC	p.S1528S	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1528	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9																		---	---	---	---
ERICH1	157697	broad.mit.edu	37	8	642594	642594	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:642594G>A	uc003wph.2	-	3	253	c.188C>T	c.(187-189)CCG>CTG	p.P63L	ERICH1_uc011kwh.1_Missense_Mutation_p.P63L|ERICH1_uc003wpe.1_Intron	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	63										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)														---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767078	77767078	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77767078G>A	uc003yav.2	+	10	8173	c.7786G>A	c.(7786-7788)GAA>AAA	p.E2596K	ZFHX4_uc003yau.1_Missense_Mutation_p.E2641K|ZFHX4_uc003yaw.1_Missense_Mutation_p.E2596K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2596	Homeobox 3.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)												HNSCC(33;0.089)			---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135614852	135614852	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:135614852G>C	uc003yup.2	-	6	1285	c.1110C>G	c.(1108-1110)ATC>ATG	p.I370M	ZFAT_uc003yun.2_Missense_Mutation_p.I358M|ZFAT_uc003yuo.2_Missense_Mutation_p.I358M|ZFAT_uc010meh.2_Missense_Mutation_p.I358M|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.I358M|ZFAT_uc010mej.2_Missense_Mutation_p.I308M|ZFAT_uc003yur.2_Missense_Mutation_p.I358M	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	370	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)															---	---	---	---
TRAPPC9	83696	broad.mit.edu	37	8	141415757	141415757	+	Silent	SNP	A	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141415757A>G	uc003yvj.2	-	6	1061	c.927T>C	c.(925-927)ACT>ACC	p.T309T	TRAPPC9_uc003yvh.2_Silent_p.T407T|TRAPPC9_uc003yvi.1_Silent_p.T300T	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	309					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2																		---	---	---	---
SLC45A4	57210	broad.mit.edu	37	8	142229090	142229090	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142229090C>G	uc003ywd.1	-	4	804	c.496G>C	c.(496-498)GAC>CAC	p.D166H	SLC45A4_uc003ywc.1_Missense_Mutation_p.D166H|SLC45A4_uc010meq.1_Missense_Mutation_p.D164H	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	217					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)															---	---	---	---
CPSF1	29894	broad.mit.edu	37	8	145621891	145621891	+	Silent	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145621891G>A	uc003zcj.2	-	25	2823	c.2748C>T	c.(2746-2748)GGC>GGT	p.G916G		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	916					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)															---	---	---	---
FLJ46321	389763	broad.mit.edu	37	9	84607898	84607898	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84607898T>G	uc004amn.2	+	4	2560	c.2513T>G	c.(2512-2514)TTT>TGT	p.F838C		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	838						integral to membrane					0																		---	---	---	---
FAM120A	23196	broad.mit.edu	37	9	96214522	96214522	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:96214522G>A	uc004atw.2	+	1	350	c.325G>A	c.(325-327)GTC>ATC	p.V109I	FAM120AOS_uc004atm.2_5'Flank|FAM120AOS_uc004atn.3_5'Flank|FAM120AOS_uc004ato.3_5'Flank|FAM120AOS_uc004atp.3_5'Flank|FAM120AOS_uc004atq.3_5'Flank|FAM120AOS_uc004atr.3_5'Flank|FAM120AOS_uc004ats.3_Intron|FAM120AOS_uc004att.3_Intron|FAM120AOS_uc004atu.3_Missense_Mutation_p.T157I|FAM120A_uc004atv.2_Missense_Mutation_p.V109I	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	109						cytoplasm|plasma membrane	RNA binding				0																		---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116346512	116346512	+	Silent	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116346512G>A	uc004bhq.2	+	21	3029	c.2820G>A	c.(2818-2820)CGG>CGA	p.R940R	RGS3_uc004bhs.2_Silent_p.R830R|RGS3_uc004bht.2_Silent_p.R659R|RGS3_uc010muy.2_Intron|RGS3_uc004bhv.2_Silent_p.R261R|RGS3_uc010muz.1_Silent_p.R279R|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Silent_p.R250R|RGS3_uc004bhx.2_Silent_p.R261R|RGS3_uc004bhy.1_Silent_p.R250R|RGS3_uc004bhz.2_Silent_p.R282R	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	940					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
DFNB31	25861	broad.mit.edu	37	9	117185721	117185721	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117185721A>G	uc004biz.3	-	7	2148	c.1499T>C	c.(1498-1500)ATT>ACT	p.I500T	DFNB31_uc004bix.2_Missense_Mutation_p.I149T|DFNB31_uc004biy.3_Missense_Mutation_p.I117T|DFNB31_uc004bja.3_Missense_Mutation_p.I500T	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	500					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6																		---	---	---	---
C10orf18	54906	broad.mit.edu	37	10	5789022	5789022	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5789022C>G	uc001iij.2	+	15	4263	c.3638C>G	c.(3637-3639)ACC>AGC	p.T1213S	C10orf18_uc001iik.2_Missense_Mutation_p.T57S	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1213										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
ARID5B	84159	broad.mit.edu	37	10	63818993	63818993	+	Intron	SNP	C	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:63818993C>A	uc001jlt.1	+						ARID5B_uc001jlu.1_Intron	NM_032199	NP_115575			AT rich interactive domain 5B (MRF1-like)						liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)																	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75289641	75289641	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75289641G>C	uc001juo.2	-	13	1874	c.1857C>G	c.(1855-1857)AGC>AGG	p.S619R	USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.S619R|USP54_uc010qkl.1_Missense_Mutation_p.S619R	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	619					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)															OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
NDST2	8509	broad.mit.edu	37	10	75567759	75567759	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75567759T>C	uc001jvk.2	-	3	1192	c.388A>G	c.(388-390)AAT>GAT	p.N130D	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Missense_Mutation_p.N7D|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Missense_Mutation_p.N7D	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	130	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)																	---	---	---	---
TDRD1	56165	broad.mit.edu	37	10	115970506	115970506	+	Silent	SNP	C	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115970506C>A	uc001lbg.1	+	12	1704	c.1551C>A	c.(1549-1551)GGC>GGA	p.G517G	TDRD1_uc001lbf.2_Silent_p.G508G|TDRD1_uc001lbh.1_Silent_p.G508G|TDRD1_uc001lbi.1_Silent_p.G508G|TDRD1_uc010qsc.1_Silent_p.G178G|TDRD1_uc001lbj.2_Silent_p.G226G	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	517					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)														---	---	---	---
PDZD8	118987	broad.mit.edu	37	10	119043857	119043857	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:119043857A>C	uc001lde.1	-	5	2586	c.2387T>G	c.(2386-2388)TTG>TGG	p.L796W		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	796					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)														---	---	---	---
PPP2R2D	55844	broad.mit.edu	37	10	133757520	133757520	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:133757520C>T	uc001lks.2	+	4	670	c.427C>T	c.(427-429)CGA>TGA	p.R143*	PPP2R2D_uc001lkr.2_Intron|PPP2R2D_uc001lkt.2_Intron|PPP2R2D_uc009yay.2_Nonsense_Mutation_p.R11*	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	176					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)														---	---	---	---
APBB1	322	broad.mit.edu	37	11	6432549	6432549	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6432549G>A	uc001mdb.1	-	2	129	c.29C>T	c.(28-30)TCG>TTG	p.S10L	APBB1_uc001mdc.1_Missense_Mutation_p.S10L|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	10					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)														---	---	---	---
DAGLA	747	broad.mit.edu	37	11	61488300	61488300	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61488300G>A	uc001nsa.2	+	3	356	c.245G>A	c.(244-246)CGC>CAC	p.R82H		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	82	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)														---	---	---	---
SLC3A2	6520	broad.mit.edu	37	11	62652974	62652974	+	Missense_Mutation	SNP	C	T	T	rs1140538		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62652974C>T	uc001nwd.2	+	10	1564	c.1340C>T	c.(1339-1341)GCT>GTT	p.A447V	SLC3A2_uc001nwb.2_Missense_Mutation_p.A478V|SLC3A2_uc001nwc.2_Missense_Mutation_p.A448V|SLC3A2_uc001nwe.2_Missense_Mutation_p.A416V|SLC3A2_uc001nwf.2_Missense_Mutation_p.A385V|SLC3A2_uc001nwg.2_Missense_Mutation_p.A346V	NM_002394	NP_002385	P08195	4F2_HUMAN	solute carrier family 3, member 2 isoform c	447	Extracellular (Potential).				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding				0																		---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88780628	88780628	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:88780628C>T	uc001pcq.2	-	1	613	c.413G>A	c.(412-414)CGC>CAC	p.R138H	GRM5_uc009yvm.2_Missense_Mutation_p.R138H|GRM5_uc009yvn.1_Missense_Mutation_p.R138H	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	138	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)													---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92086577	92086577	+	Silent	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92086577G>A	uc001pdj.3	+	1	1316	c.1299G>A	c.(1297-1299)CGG>CGA	p.R433R		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	433	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103022865	103022865	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103022865A>T	uc001pho.2	+	21	3091	c.2947A>T	c.(2947-2949)ATT>TTT	p.I983F	DYNC2H1_uc001phn.1_Missense_Mutation_p.I983F|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	983	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
CD4	920	broad.mit.edu	37	12	6923370	6923370	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6923370C>A	uc001qqv.1	+	4	522	c.277C>A	c.(277-279)CCC>ACC	p.P93T	CD4_uc009zez.1_Missense_Mutation_p.P38T|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_5'UTR|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	93	Extracellular (Potential).|Ig-like V-type.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)																---	---	---	---
FAM90A1	55138	broad.mit.edu	37	12	8375060	8375060	+	Silent	SNP	G	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8375060G>C	uc001qui.2	-	7	1312	c.753C>G	c.(751-753)CTC>CTG	p.L251L	FAM90A1_uc001quh.2_Silent_p.L251L	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	251							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)														---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	8988261	8988261	+	Silent	SNP	T	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8988261T>C	uc001quz.3	+	6	740	c.642T>C	c.(640-642)TAT>TAC	p.Y214Y		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	58						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
KRT72	140807	broad.mit.edu	37	12	52992799	52992799	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52992799A>G	uc001sar.2	-	2	610	c.524T>C	c.(523-525)ATT>ACT	p.I175T	KRT72_uc001saq.2_Missense_Mutation_p.I175T|KRT72_uc010sns.1_Missense_Mutation_p.I175T|KRT72_uc010snt.1_5'UTR	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	175	Linker 1.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)														---	---	---	---
ESPL1	9700	broad.mit.edu	37	12	53668761	53668761	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53668761C>T	uc001sck.2	+	7	1758	c.1667C>T	c.(1666-1668)GCG>GTG	p.A556V	ESPL1_uc001scj.2_Missense_Mutation_p.A231V	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	556					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3																		---	---	---	---
HOXC10	3226	broad.mit.edu	37	12	54383121	54383121	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54383121T>G	uc001sen.2	+	2	1018	c.920T>G	c.(919-921)CTT>CGT	p.L307R	uc001seo.2_5'Flank|MIR196A2_hsa-mir-196a-2|MI0000279_5'Flank	NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	homeobox C10	307	Homeobox.				positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1																OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SLC16A7	9194	broad.mit.edu	37	12	60173407	60173407	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:60173407G>A	uc001sqs.2	+	6	1683	c.1384G>A	c.(1384-1386)GTC>ATC	p.V462I	SLC16A7_uc001sqt.2_Missense_Mutation_p.V462I|SLC16A7_uc001squ.2_Missense_Mutation_p.V462I|SLC16A7_uc009zqi.2_Missense_Mutation_p.V363I|SLC16A7_uc010ssi.1_Missense_Mutation_p.V363I	NM_004731	NP_004722	O60669	MOT2_HUMAN	solute carrier family 16, member 7	462	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)													---	---	---	---
MSRB3	253827	broad.mit.edu	37	12	65720710	65720710	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:65720710G>A	uc001ssn.2	+	2	263	c.202G>A	c.(202-204)GAA>AAA	p.E68K	MSRB3_uc001ssm.2_Missense_Mutation_p.E61K|MSRB3_uc009zqp.2_Missense_Mutation_p.E61K	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3 isoform 1	68					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)														---	---	---	---
OAS3	4940	broad.mit.edu	37	12	113379501	113379501	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113379501C>T	uc001tug.2	+	2	391	c.304C>T	c.(304-306)CGG>TGG	p.R102W	OAS3_uc001tue.2_Missense_Mutation_p.R102W|OAS3_uc001tuf.2_Missense_Mutation_p.R102W	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	102	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1																		---	---	---	---
SLC46A3	283537	broad.mit.edu	37	13	29287281	29287281	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:29287281G>A	uc001usi.2	-	2	1566	c.596C>T	c.(595-597)TCG>TTG	p.S199L	SLC46A3_uc001usg.2_Missense_Mutation_p.S124L|SLC46A3_uc001usj.2_Missense_Mutation_p.S199L|SLC46A3_uc001ush.2_Missense_Mutation_p.S199L|SLC46A3_uc001usk.2_Missense_Mutation_p.S124L	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	199	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)														---	---	---	---
NAA16	79612	broad.mit.edu	37	13	41947902	41947902	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:41947902A>T	uc001uyf.2	+	18	2609	c.2285A>T	c.(2284-2286)CAG>CTG	p.Q762L	NAA16_uc010tfg.1_RNA	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	762					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1																		---	---	---	---
ZIC5	85416	broad.mit.edu	37	13	100618080	100618080	+	Intron	SNP	G	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:100618080G>C	uc001vom.1	-							NM_033132	NP_149123			zinc finger protein of the cerebellum 5						cell differentiation	nucleus	DNA binding|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
ERCC5	2073	broad.mit.edu	37	13	103468859	103468859	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:103468859C>G	uc001vpu.1	+	2	682	c.560C>G	c.(559-561)CCT>CGT	p.P187R	BIVM_uc001vps.2_Missense_Mutation_p.P187R|BIVM_uc010agc.2_5'UTR|BIVM_uc001vpt.2_Missense_Mutation_p.P187R	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	Error:Variant_position_missing_in_P28715_after_alignment					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---
Unknown	0	broad.mit.edu	37	14	22090682	22090682	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22090682G>C	uc001wbi.2	+	2	334	c.321G>C	c.(319-321)CAG>CAC	p.Q107H						SubName: Full=Putative uncharacterized protein ENSP00000374929;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22475891	22475891	+	Intron	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22475891G>A	uc001wbw.2	+						uc010tmh.1_Intron|uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc001wct.3_Intron|uc001wcu.3_Silent_p.R10R					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
ADCY4	196883	broad.mit.edu	37	14	24788315	24788315	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24788315C>T	uc001wov.2	-	23	2951	c.2945G>A	c.(2944-2946)CGC>CAC	p.R982H	ADCY4_uc001wow.2_Missense_Mutation_p.R982H|ADCY4_uc010toh.1_Missense_Mutation_p.R668H|ADCY4_uc001wox.2_Missense_Mutation_p.R982H|ADCY4_uc001woy.2_Missense_Mutation_p.R982H	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	982	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)														---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30095727	30095727	+	Silent	SNP	T	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:30095727T>C	uc001wqh.2	-	12	1942	c.1761A>G	c.(1759-1761)GAA>GAG	p.E587E		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	587	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)														---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	80328211	80328211	+	Silent	SNP	C	T	T	rs150091542		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:80328211C>T	uc001xun.2	+	17	3581	c.3090C>T	c.(3088-3090)TCC>TCT	p.S1030S	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.S606S|NRXN3_uc010asw.2_Silent_p.S428S|NRXN3_uc001xur.3_Silent_p.S401S	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1612	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)														---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93125521	93125521	+	Missense_Mutation	SNP	C	T	T	rs138388973		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93125521C>T	uc001yap.2	+	7	2194	c.2042C>T	c.(2041-2043)TCT>TTT	p.S681F	RIN3_uc010auk.2_Missense_Mutation_p.S343F|RIN3_uc001yaq.2_Missense_Mutation_p.S606F|RIN3_uc001yar.1_Missense_Mutation_p.S343F|RIN3_uc001yas.1_Missense_Mutation_p.S343F	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	681	Interaction with RAB5B.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)																---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105414701	105414701	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105414701T>C	uc010axc.1	-	7	7207	c.7087A>G	c.(7087-7089)ACC>GCC	p.T2363A	AHNAK2_uc001ypx.2_Missense_Mutation_p.T2263A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2363						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
C15orf2	23742	broad.mit.edu	37	15	24921084	24921084	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:24921084G>A	uc001ywo.2	+	1	544	c.70G>A	c.(70-72)GCC>ACC	p.A24T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	24					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)														---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53815461	53815461	+	Silent	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:53815461C>T	uc002acj.2	-	19	3249	c.3207G>A	c.(3205-3207)GTG>GTA	p.V1069V	WDR72_uc010bfh.1_RNA	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1069										lung(1)|skin(1)	2				all cancers(107;0.0511)														---	---	---	---
ZNF75A	7627	broad.mit.edu	37	16	3366987	3366987	+	Missense_Mutation	SNP	C	A	A	rs147870851		TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3366987C>A	uc002cut.3	+	5	702	c.176C>A	c.(175-177)CCG>CAG	p.P59Q	ZNF75A_uc002cuv.3_RNA	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1																		---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7577532G>A	uc002gim.2	-	7	943	c.749C>T	c.(748-750)CCC>CTC	p.P250L	TP53_uc002gig.1_Missense_Mutation_p.P250L|TP53_uc002gih.2_Missense_Mutation_p.P250L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P118L|TP53_uc010cng.1_Missense_Mutation_p.P118L|TP53_uc002gii.1_Missense_Mutation_p.P118L|TP53_uc010cnh.1_Missense_Mutation_p.P250L|TP53_uc010cni.1_Missense_Mutation_p.P250L|TP53_uc002gij.2_Missense_Mutation_p.P250L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P157L|TP53_uc002gio.2_Missense_Mutation_p.P118L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	250	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> L (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|RP -> SS (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P250L(37)|p.P250S(12)|p.0?(7)|p.P250P(4)|p.P250F(3)|p.P250N(2)|p.P250A(2)|p.M246_P250delMNRRP(2)|p.P250Q(2)|p.P250_L252delPIL(2)|p.P250H(1)|p.P250_I251insXXXXXX(1)|p.N247_P250delNRRP(1)|p.P250T(1)|p.P250_T253delPILT(1)|p.R249_P250insR(1)|p.R249_I251delRPI(1)|p.R248_P250delRRP(1)|p.P250_I251insXXXXXXX(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_P250>SS(1)|p.R249_P250delRP(1)|p.P250_I251insX(1)|p.P250fs*14(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)			111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---
HS3ST3A1	9955	broad.mit.edu	37	17	13400097	13400097	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:13400097A>G	uc002gob.1	-	2	1436	c.638T>C	c.(637-639)ATG>ACG	p.M213T		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	heparan sulfate D-glucosaminyl	213	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			ovary(1)|central_nervous_system(1)	2		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)														---	---	---	---
HS3ST3B1	9953	broad.mit.edu	37	17	14248383	14248383	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:14248383T>C	uc002goh.1	+	2	923	c.593T>C	c.(592-594)ATG>ACG	p.M198T		NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	heparan sulfate D-glucosaminyl	198	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)														---	---	---	---
ZNF624	57547	broad.mit.edu	37	17	16525840	16525840	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16525840T>G	uc010cpi.1	-	6	2443	c.2360A>C	c.(2359-2361)AAG>ACG	p.K787T		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	787	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)														---	---	---	---
RHOT1	55288	broad.mit.edu	37	17	30521045	30521045	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30521045G>C	uc002hgz.2	+	11	1027	c.788G>C	c.(787-789)AGA>ACA	p.R263T	RHOT1_uc002hgw.2_Missense_Mutation_p.R263T|RHOT1_uc002hgy.2_Missense_Mutation_p.R263T|RHOT1_uc002hha.2_Missense_Mutation_p.R136T|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Missense_Mutation_p.R136T|RHOT1_uc010wby.1_Missense_Mutation_p.R263T|RHOT1_uc002hhb.2_Missense_Mutation_p.R242T|RHOT1_uc002hgv.2_Missense_Mutation_p.R263T	NM_018307	NP_060777	Q8IXI2	MIRO1_HUMAN	ras homolog gene family, member T1 isoform 3	263	Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)																---	---	---	---
C17orf102	400591	broad.mit.edu	37	17	32906083	32906083	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:32906083T>C	uc002hie.1	-	1	306	c.217A>G	c.(217-219)ACC>GCC	p.T73A	TMEM132E_uc002hif.2_5'Flank	NM_207454	NP_997337	A2RUQ5	CQ102_HUMAN	hypothetical protein LOC400591	73										ovary(1)	1																		---	---	---	---
MLLT6	4302	broad.mit.edu	37	17	36868183	36868183	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36868183C>A	uc002hqi.3	+	7	649	c.636C>A	c.(634-636)TTC>TTA	p.F212L	MLLT6_uc010wdr.1_Missense_Mutation_p.F212L|MLLT6_uc010cvm.1_Missense_Mutation_p.F212L	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	212					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)							T	MLL	AL								---	---	---	---
AARSD1	80755	broad.mit.edu	37	17	41102638	41102638	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41102638T>C	uc002icc.2	-	12	1214	c.1211A>G	c.(1210-1212)TAC>TGC	p.Y404C	AARSD1_uc002icd.2_Missense_Mutation_p.Y517C|AARSD1_uc002ice.2_Missense_Mutation_p.Y487C|AARSD1_uc002icf.2_Missense_Mutation_p.Y578C|AARSD1_uc010whg.1_Missense_Mutation_p.Y578C	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	404					alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)														---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41245963	41245963	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41245963G>A	uc002icq.2	-	10	1817	c.1585C>T	c.(1585-1587)CCT>TCT	p.P529S	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.P458S|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.P482S|BRCA1_uc002ict.2_Missense_Mutation_p.P529S|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.P529S|BRCA1_uc002ide.1_Missense_Mutation_p.P360S|BRCA1_uc010cyy.1_Missense_Mutation_p.P529S|BRCA1_uc010whs.1_Missense_Mutation_p.P529S|BRCA1_uc010cyz.2_Missense_Mutation_p.P482S|BRCA1_uc010cza.2_Missense_Mutation_p.P503S|BRCA1_uc010wht.1_Missense_Mutation_p.P233S	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	529					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)				D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			---	---	---	---
USP32	84669	broad.mit.edu	37	17	58299833	58299833	+	Silent	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58299833G>A	uc002iyo.1	-	15	1972	c.1686C>T	c.(1684-1686)GTC>GTT	p.V562V	USP32_uc002iyn.1_Silent_p.V232V	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	562	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)															---	---	---	---
C17orf77	146723	broad.mit.edu	37	17	72588276	72588276	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72588276T>C	uc002jla.1	+	3	453	c.91T>C	c.(91-93)TGC>CGC	p.C31R	CD300LD_uc002jkz.2_Intron	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	hypothetical protein LOC146723	31						extracellular region					0																		---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76045914	76045914	+	Silent	SNP	C	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76045914C>A	uc002jud.2	+	4	1371	c.771C>A	c.(769-771)GCC>GCA	p.A257A	TNRC6C_uc002juf.2_Silent_p.A257A|TNRC6C_uc002jue.2_Silent_p.A257A	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	257	Sufficient for interaction with argonaute family proteins.|Gly-rich.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)															---	---	---	---
RPTOR	57521	broad.mit.edu	37	17	78681808	78681808	+	Intron	SNP	G	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78681808G>T	uc002jyt.1	+						RPTOR_uc002jys.2_Intron|RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron	NM_020761	NP_065812			raptor isoform 1						cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6																		---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3814115	3814115	+	Silent	SNP	C	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3814115C>A	uc002kmf.2	-	2	1183	c.1116G>T	c.(1114-1116)CGG>CGT	p.R372R	DLGAP1_uc010wyz.1_Silent_p.R372R|DLGAP1_uc002kme.1_Silent_p.R70R|DLGAP1_uc010dkn.2_Silent_p.R70R|DLGAP1_uc010wyw.1_Silent_p.R78R|DLGAP1_uc010wyx.1_Silent_p.R84R|DLGAP1_uc010wyy.1_Silent_p.R84R|DLGAP1_uc002kmg.2_Silent_p.R70R|DLGAP1_uc002kmk.2_Silent_p.R372R	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	372					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)																---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21894248	21894248	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21894248G>A	uc002kve.2	-	12	1108	c.934C>T	c.(934-936)CGG>TGG	p.R312W	OSBPL1A_uc010xbc.1_5'Flank|OSBPL1A_uc002kvf.3_Missense_Mutation_p.R92W	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	312	PH.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)																	---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45566902	45566902	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:45566902C>G	uc002lda.2	-	1	593	c.577G>C	c.(577-579)GAC>CAC	p.D193H	ZBTB7C_uc002ldb.2_Missense_Mutation_p.D193H|ZBTB7C_uc010dnu.2_Missense_Mutation_p.D202H|ZBTB7C_uc010dnv.2_Missense_Mutation_p.D215H|ZBTB7C_uc010dnw.2_Missense_Mutation_p.D193H|ZBTB7C_uc010dnx.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dny.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dnz.1_Missense_Mutation_p.D215H|ZBTB7C_uc010dob.1_Missense_Mutation_p.D193H|ZBTB7C_uc010doc.1_Missense_Mutation_p.D202H|ZBTB7C_uc010dod.1_Missense_Mutation_p.D215H|ZBTB7C_uc010doe.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dof.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dog.1_Missense_Mutation_p.D193H|ZBTB7C_uc010doh.1_Missense_Mutation_p.D202H|ZBTB7C_uc010doi.1_Missense_Mutation_p.D193H|ZBTB7C_uc010doj.1_Missense_Mutation_p.D202H|ZBTB7C_uc010dok.1_Missense_Mutation_p.D242H|ZBTB7C_uc010dol.1_Missense_Mutation_p.D202H|ZBTB7C_uc010doa.1_Missense_Mutation_p.D215H|ZBTB7C_uc010don.1_Missense_Mutation_p.D201H|ZBTB7C_uc010doo.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dop.1_Missense_Mutation_p.D193H|ZBTB7C_uc010doq.1_Missense_Mutation_p.D202H|ZBTB7C_uc010dor.1_Missense_Mutation_p.D215H|ZBTB7C_uc010dos.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dot.1_Missense_Mutation_p.D193H|ZBTB7C_uc010dou.1_Missense_Mutation_p.D202H|ZBTB7C_uc010dom.1_Missense_Mutation_p.D202H	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	193						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ATP8B1	5205	broad.mit.edu	37	18	55362738	55362738	+	Nonsense_Mutation	SNP	G	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:55362738G>C	uc002lgw.2	-	8	725	c.725C>G	c.(724-726)TCA>TGA	p.S242*	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	242	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)												Byler_disease				---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56646352	56646352	+	Silent	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56646352G>A	uc002lho.2	+	9	3763	c.3216G>A	c.(3214-3216)CGG>CGA	p.R1072R	ZNF532_uc002lhp.2_Silent_p.R1070R|ZNF532_uc010xeg.1_Silent_p.R1070R|ZNF532_uc002lhr.2_Silent_p.R1070R|ZNF532_uc002lhs.2_Silent_p.R1070R|ZNF532_uc010xeh.1_Silent_p.R164R	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1072	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
WDR18	57418	broad.mit.edu	37	19	992110	992110	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:992110C>T	uc002lqm.1	+	8	1113	c.1087C>T	c.(1087-1089)CTC>TTC	p.L363F	WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Missense_Mutation_p.L326F|WDR18_uc010dry.1_Missense_Mutation_p.L363F	NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	WD repeat domain 18	363										skin(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
RDH8	50700	broad.mit.edu	37	19	10129585	10129585	+	Silent	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10129585G>A	uc002mmr.2	+	3	690	c.441G>A	c.(439-441)CAG>CAA	p.Q147Q		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	147	Helical; (Potential).				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(3)|pancreas(1)	4			Epithelial(33;4.24e-05)		Vitamin A(DB00162)													---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10273405	10273405	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10273405C>T	uc002mng.2	-	12	1078	c.898G>A	c.(898-900)GAA>AAA	p.E300K	DNMT1_uc010xlc.1_Missense_Mutation_p.E316K|DNMT1_uc002mnh.2_Missense_Mutation_p.E195K|DNMT1_uc010xld.1_Missense_Mutation_p.E300K|DNMT1_uc002mnk.2_RNA	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	300	Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)													---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13411396	13411396	+	Silent	SNP	A	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13411396A>G	uc010dze.2	-	18	2486	c.2250T>C	c.(2248-2250)AGT>AGC	p.S750S	CACNA1A_uc010dzc.2_Silent_p.S275S|CACNA1A_uc002mwy.3_Silent_p.S749S|CACNA1A_uc010xne.1_Silent_p.S278S	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	750	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)													---	---	---	---
WIZ	58525	broad.mit.edu	37	19	15559049	15559049	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15559049G>A	uc002nbb.3	-	2	284	c.70C>T	c.(70-72)CCG>TCG	p.P24S	MIR1470_hsa-mir-1470|MI0007075_5'Flank	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1105	Pro-rich.					nucleus	zinc ion binding				0																		---	---	---	---
ZNF626	199777	broad.mit.edu	37	19	20807247	20807247	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20807247C>T	uc002npb.1	-	4	1586	c.1436G>A	c.(1435-1437)AGA>AAA	p.R479K	ZNF626_uc002npc.1_Missense_Mutation_p.R403K	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1																		---	---	---	---
ZNF626	199777	broad.mit.edu	37	19	20807265	20807265	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20807265T>C	uc002npb.1	-	4	1568	c.1418A>G	c.(1417-1419)AAA>AGA	p.K473R	ZNF626_uc002npc.1_Missense_Mutation_p.K397R	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	473	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1																		---	---	---	---
ZNF599	148103	broad.mit.edu	37	19	35250430	35250430	+	Nonsense_Mutation	SNP	T	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35250430T>A	uc010edn.1	-	4	1664	c.1276A>T	c.(1276-1278)AAA>TAA	p.K426*	ZNF599_uc010edm.1_Nonsense_Mutation_p.K389*	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	426	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)															---	---	---	---
PLEKHA4	57664	broad.mit.edu	37	19	49355500	49355500	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49355500G>T	uc002pkx.2	-	13	1961	c.1410C>A	c.(1408-1410)CAC>CAA	p.H470Q	PLEKHA4_uc002pkw.1_5'UTR|PLEKHA4_uc010eml.2_Missense_Mutation_p.H445Q	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	470						cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)														---	---	---	---
GP6	51206	broad.mit.edu	37	19	55526287	55526287	+	3'UTR	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55526287G>A	uc002qik.2	-	8					GP6_uc002qil.2_Silent_p.T342T|GP6_uc010esq.2_3'UTR	NM_016363	NP_057447			glycoprotein VI (platelet) isoform 2						enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)														---	---	---	---
HSPA12B	116835	broad.mit.edu	37	20	3726571	3726571	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3726571G>A	uc002wjd.2	+	7	671	c.568G>A	c.(568-570)GAG>AAG	p.E190K	HSPA12B_uc010zqi.1_Missense_Mutation_p.E189K|HSPA12B_uc002wje.2_Missense_Mutation_p.E103K|HSPA12B_uc010zqj.1_Missense_Mutation_p.E24K	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	190							ATP binding				0																		---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57781954	57781954	+	Intron	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57781954C>T	uc002yan.2	+							NM_178457	NP_848552			zinc finger protein 831							intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)																	---	---	---	---
BCL2L13	23786	broad.mit.edu	37	22	18209612	18209612	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18209612C>T	uc002zmw.2	+	7	988	c.770C>T	c.(769-771)TCA>TTA	p.S257L	BCL2L13_uc002zmx.2_Missense_Mutation_p.S95L|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.S95L|BCL2L13_uc011agk.1_Missense_Mutation_p.S133L|BCL2L13_uc010gqz.2_5'UTR|BCL2L13_uc002zmz.2_Missense_Mutation_p.S95L|BCL2L13_uc002zna.2_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	257					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)														---	---	---	---
BCL2L13	23786	broad.mit.edu	37	22	18209747	18209747	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18209747C>G	uc002zmw.2	+	7	1123	c.905C>G	c.(904-906)TCC>TGC	p.S302C	BCL2L13_uc002zmx.2_Missense_Mutation_p.S140C|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.S140C|BCL2L13_uc011agk.1_Missense_Mutation_p.S178C|BCL2L13_uc010gqz.2_Missense_Mutation_p.S22C|BCL2L13_uc002zmz.2_Missense_Mutation_p.S140C|BCL2L13_uc002zna.2_Missense_Mutation_p.S22C	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	302					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)														---	---	---	---
SGSM1	129049	broad.mit.edu	37	22	25313668	25313668	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:25313668A>G	uc003abg.2	+	24	3294	c.3137A>G	c.(3136-3138)GAC>GGC	p.D1046G	SGSM1_uc003abh.2_Missense_Mutation_p.D985G|SGSM1_uc010guu.1_Missense_Mutation_p.D991G|SGSM1_uc003abj.2_Missense_Mutation_p.D930G|SGSM1_uc003abi.1_Missense_Mutation_p.D966G	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	1046	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5																		---	---	---	---
ZNRF3	84133	broad.mit.edu	37	22	29445281	29445281	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29445281G>A	uc003aeg.2	+	8	977	c.812G>A	c.(811-813)CGC>CAC	p.R271H	ZNRF3_uc003aeh.1_Missense_Mutation_p.R271H	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	371	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1																		---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40037111	40037111	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40037111G>T	uc003ayc.2	+	6	980	c.980G>T	c.(979-981)CGC>CTC	p.R327L	CACNA1I_uc003ayd.2_Missense_Mutation_p.R327L|CACNA1I_uc003aye.2_Missense_Mutation_p.R242L|CACNA1I_uc003ayf.2_Missense_Mutation_p.R242L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	327	I.|Extracellular (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)													---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53564520	53564520	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53564520C>T	uc004dsp.2	-	78	12536	c.12134G>A	c.(12133-12135)CGA>CAA	p.R4045Q	HUWE1_uc004dsn.2_Missense_Mutation_p.R2853Q|HUWE1_uc004dsq.1_Missense_Mutation_p.R345Q	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	4045	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17																		---	---	---	---
NRK	203447	broad.mit.edu	37	X	105197150	105197150	+	Silent	SNP	C	T	T			TCGA-CG-4449-01	TCGA-CG-4449-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105197150C>T	uc004emd.2	+	28	4941	c.4638C>T	c.(4636-4638)TGC>TGT	p.C1546C	NRK_uc011msi.1_Silent_p.C127C	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1546	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14															HNSCC(51;0.14)			---	---	---	---
