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
TMEM57	55219	broad.mit.edu	37	1	25780930	25780933	+	Intron	DEL	TGTG	-	-			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:25780930_25780933delTGTG	uc001bkk.2	+						TMEM57_uc009vru.2_Intron|TMEM57_uc009vrv.2_Intron|TMEM57_uc009vrt.2_Intron	NM_018202	NP_060672			transmembrane protein 57							axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
NR5A2	2494	broad.mit.edu	37	1	200143065	200143069	+	Intron	DEL	TTTTT	-	-	rs72238192		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200143065_200143069delTTTTT	uc001gvb.2	+						NR5A2_uc001gvc.2_Intron|NR5A2_uc009wzh.2_Intron|NR5A2_uc010pph.1_Intron	NM_205860	NP_995582			nuclear receptor subfamily 5, group A, member 2						embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)																	---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245775406	245775409	+	Intron	DEL	GTGA	-	-	rs28368385	by1000genomes	TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245775406_245775409delGTGA	uc001ibf.1	+						KIF26B_uc010pyq.1_Intron|KIF26B_uc001ibg.1_Intron	NM_018012	NP_060482			kinesin family member 26B						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)															---	---	---	---
ADCY3	109	broad.mit.edu	37	2	25046361	25046362	+	Intron	INS	-	TT	TT	rs5829941		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25046361_25046362insTT	uc002rfs.3	-						ADCY3_uc002rfr.3_Intron|ADCY3_uc010ykm.1_Intron	NM_004036	NP_004027			adenylate cyclase 3						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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)																	---	---	---	---
SNED1	25992	broad.mit.edu	37	2	241992108	241992110	+	Intron	DEL	GGG	-	-	rs72462767		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241992108_241992110delGGG	uc002wah.1	+							NM_001080437	NP_001073906			6720455I24Rik homolog precursor						cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)														---	---	---	---
PASK	23178	broad.mit.edu	37	2	242075147	242075148	+	Intron	INS	-	C	C	rs140491962	by1000genomes	TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242075147_242075148insC	uc002wao.1	-						PASK_uc010zol.1_Intron|PASK_uc010zom.1_Intron|PASK_uc010fzl.1_Intron|PASK_uc010zon.1_Intron|PASK_uc002wap.2_5'Flank|PASK_uc002waq.2_Intron	NM_015148	NP_055963			PAS domain containing serine/threonine kinase						regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)														---	---	---	---
BTLA	151888	broad.mit.edu	37	3	112218320	112218320	+	5'UTR	DEL	A	-	-			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112218320delA	uc003dza.3	-	1					BTLA_uc003dzb.3_5'UTR	NM_181780	NP_861445			B and T lymphocyte associated isoform 1						T cell costimulation		receptor activity				0		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)																---	---	---	---
ATP2C1	27032	broad.mit.edu	37	3	130711966	130711967	+	Intron	INS	-	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130711966_130711967insT	uc003enl.2	+						ATP2C1_uc011blg.1_Intron|ATP2C1_uc011blh.1_Intron|ATP2C1_uc011bli.1_Intron|ATP2C1_uc003enk.2_Intron|ATP2C1_uc003enm.2_Intron|ATP2C1_uc003enn.2_Intron|ATP2C1_uc003eno.2_Intron|ATP2C1_uc003enp.2_Intron|ATP2C1_uc003enq.2_Intron|ATP2C1_uc003enr.2_Intron|ATP2C1_uc003ens.2_Intron|ATP2C1_uc003ent.2_Intron|ATP2C1_uc003enu.2_Intron	NM_014382	NP_055197			calcium-transporting ATPase 2C1 isoform 1a						actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)									Hailey-Hailey_disease				---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132193659	132193661	+	Intron	DEL	CCC	-	-			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132193659_132193661delCCC	uc003eor.2	+							NM_015268	NP_056083			DnaJ (Hsp40) homolog, subfamily C, member 13								heat shock protein binding			ovary(1)|breast(1)	2																		---	---	---	---
CEP63	80254	broad.mit.edu	37	3	134280110	134280111	+	Intron	INS	-	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134280110_134280111insA	uc003eqo.1	+						CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	NM_025180	NP_079456			centrosomal protein 63 isoform a						cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	4	57500222	57500223	+	IGR	INS	-	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57500222_57500223insA								ARL9 (110164 upstream) : HOPX (13931 downstream)																																			---	---	---	---
WWC2	80014	broad.mit.edu	37	4	184114632	184114633	+	Intron	INS	-	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:184114632_184114633insT	uc010irx.2	+						WWC2_uc003ivk.3_5'Flank	NM_024949	NP_079225			WW and C2 domain containing 2											ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)														---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24576991	24576991	+	Intron	DEL	A	-	-			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24576991delA	uc011djo.1	-						KIAA0319_uc011djp.1_Intron|KIAA0319_uc003neh.1_Intron|KIAA0319_uc011djq.1_Intron|KIAA0319_uc011djr.1_Intron|KIAA0319_uc010jpt.1_Intron	NM_014809	NP_055624			KIAA0319 precursor						negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2																		---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142692051	142692052	+	Intron	DEL	AT	-	-			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:142692051_142692052delAT	uc010khc.2	+						GPR126_uc010khd.2_Intron|GPR126_uc010khe.2_Intron|GPR126_uc010khf.2_Intron|GPR126_uc003qix.2_Frame_Shift_Del_p.H397fs	NM_020455	NP_065188			G protein-coupled receptor 126 alpha 1						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)														---	---	---	---
PHACTR2	9749	broad.mit.edu	37	6	144128096	144128096	+	Intron	DEL	A	-	-			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144128096delA	uc003qjq.3	+						PHACTR2_uc010khh.2_Intron|PHACTR2_uc010khi.2_Intron|PHACTR2_uc003qjr.3_Intron	NM_014721	NP_055536			phosphatase and actin regulator 2 isoform 3								actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)														---	---	---	---
Unknown	0	broad.mit.edu	37	7	65565047	65565049	+	IGR	DEL	GAG	-	-			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65565047_65565049delGAG								ASL (6726 upstream) : CRCP (14756 downstream)																																			---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25042390	25042390	+	5'UTR	DEL	T	-	-			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25042390delT	uc003xeg.2	+	1					DOCK5_uc010luf.1_RNA|DOCK5_uc003xef.2_5'UTR	NM_024940	NP_079216			dedicator of cytokinesis 5							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)														---	---	---	---
AQP7	364	broad.mit.edu	37	9	33395300	33395300	+	Intron	DEL	C	-	-	rs77570582		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33395300delC	uc003zst.2	-						SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Intron|AQP7_uc010mjs.2_5'Flank|AQP7_uc010mjt.2_5'UTR|AQP7_uc011lnx.1_Intron|AQP7_uc011lny.1_5'UTR|AQP7_uc003zss.3_Intron|AQP7_uc011lnz.1_Intron|AQP7_uc011loa.1_Intron	NM_001170	NP_001161			aquaporin 7						excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)														---	---	---	---
ANKRD20A4	728747	broad.mit.edu	37	9	69420250	69420251	+	Intron	INS	-	CTTA	CTTA			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:69420250_69420251insCTTA	uc004afn.2	+							NM_001098805	NP_001092275			ankyrin repeat domain 20 family, member A4												0																		---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113243811	113243817	+	Intron	DEL	CTGTCTA	-	-	rs3841727		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113243811_113243817delCTGTCTA	uc010mtz.2	-						SVEP1_uc010mua.1_Intron|SVEP1_uc004beu.2_Intron	NM_153366	NP_699197			polydom						cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7																		---	---	---	---
ADD3	120	broad.mit.edu	37	10	111876987	111876988	+	Intron	INS	-	T	T	rs79771841		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:111876987_111876988insT	uc001kyt.3	+						ADD3_uc001kys.3_Intron|ADD3_uc001kyu.2_Intron|ADD3_uc001kyv.2_Intron|ADD3_uc001kyw.2_Intron	NM_016824	NP_058432			adducin 3 (gamma) isoform a							cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)														---	---	---	---
TCF7L2	6934	broad.mit.edu	37	10	114710870	114710870	+	Intron	DEL	C	-	-	rs72101402		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:114710870delC	uc001lae.3	+						TCF7L2_uc001lac.3_Intron|TCF7L2_uc010qrk.1_Intron|TCF7L2_uc010qrl.1_Intron|TCF7L2_uc010qrm.1_Intron|TCF7L2_uc010qrn.1_Intron|TCF7L2_uc001lad.3_Intron|TCF7L2_uc001lag.3_Intron|TCF7L2_uc001laf.3_Intron|TCF7L2_uc010qro.1_Intron|TCF7L2_uc001lah.2_Intron|TCF7L2_uc010qrp.1_Intron|TCF7L2_uc010qrq.1_Intron|TCF7L2_uc010qrr.1_5'Flank|TCF7L2_uc010qrs.1_5'Flank|TCF7L2_uc010qrt.1_5'Flank	NM_001146274	NP_001139746			transcription factor 7-like 2 isoform 1						anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)														---	---	---	---
Unknown	0	broad.mit.edu	37	11	6067831	6067831	+	IGR	DEL	G	-	-			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6067831delG								OR56A1 (18897 upstream) : OR56B4 (61178 downstream)																																			---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133805441	133805444	+	Intron	DEL	GCCT	-	-			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:133805441_133805444delGCCT	uc001qgx.3	-						IGSF9B_uc001qgy.1_Intron	NM_014987	NP_055802			immunoglobulin superfamily, member 9B							integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)														---	---	---	---
CALCOCO1	57658	broad.mit.edu	37	12	54108601	54108602	+	Intron	DEL	AC	-	-			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54108601_54108602delAC	uc001sef.2	-						CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Intron|CALCOCO1_uc010son.1_Intron|CALCOCO1_uc001seh.2_Intron|CALCOCO1_uc009znd.2_Intron|CALCOCO1_uc001seg.2_Intron|CALCOCO1_uc010soo.1_Intron	NM_020898	NP_065949			coiled-coil transcriptional coactivator isoform						steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	80722664	80722664	+	IGR	DEL	T	-	-			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:80722664delT								PPP1R12A (393429 upstream) : PTPRQ (115462 downstream)																																			---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133374766	133374766	+	Intron	DEL	G	-	-	rs33920278		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133374766delG	uc001ukz.1	-						GOLGA3_uc001ula.1_Intron|GOLGA3_uc001ulb.2_Intron	NM_005895	NP_005886			Golgi autoantigen, golgin subfamily a, 3						intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)														---	---	---	---
GCOM1	145781	broad.mit.edu	37	15	57922169	57922170	+	Intron	INS	-	T	T	rs72160469		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:57922169_57922170insT	uc002aei.2	+						GCOM1_uc002aej.2_Intron|GCOM1_uc002aek.2_Intron|GCOM1_uc002ael.2_Intron|GCOM1_uc002aem.2_Intron|GCOM1_uc002aeq.2_Intron|GCOM1_uc002aen.2_Intron|GCOM1_uc010bfy.2_Intron|GCOM1_uc002aeo.2_Intron|GCOM1_uc002aep.2_Intron|GCOM1_uc010bfx.2_Intron	NM_001018100	NP_001018110			GRINL1A upstream protein isoform 7						intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1																		---	---	---	---
RAB11FIP3	9727	broad.mit.edu	37	16	554302	554303	+	Intron	INS	-	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:554302_554303insG	uc002chf.2	+						RAB11FIP3_uc010uuf.1_Intron|RAB11FIP3_uc010uug.1_Intron	NM_014700	NP_055515			rab11-family interacting protein 3 isoform 1						cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding				0		Hepatocellular(16;0.0218)																---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19627860	19627861	+	Intron	INS	-	A	A	rs57915942		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19627860_19627861insA	uc002dgn.1	+						C16orf62_uc002dgo.1_Intron|C16orf62_uc002dgp.1_Intron|C16orf62_uc002dgm.1_Intron	NM_020314	NP_064710			hypothetical protein LOC57020							integral to membrane				ovary(1)	1																		---	---	---	---
SRCIN1	80725	broad.mit.edu	37	17	36720589	36720590	+	Intron	DEL	CA	-	-	rs143308836	by1000genomes	TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36720589_36720590delCA	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																		---	---	---	---
IGFBP4	3487	broad.mit.edu	37	17	38612993	38612994	+	3'UTR	DEL	GT	-	-			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38612993_38612994delGT	uc002hus.2	+	4						NM_001552	NP_001543			insulin-like growth factor binding protein 4						DNA metabolic process|signal transduction|skeletal system development						0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)															---	---	---	---
SLC35B1	10237	broad.mit.edu	37	17	47783728	47783728	+	Intron	DEL	G	-	-	rs138147992		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47783728delG	uc002iph.1	-						SLC35B1_uc002ipi.1_Intron|SLC35B1_uc002ipj.1_Intron|SLC35B1_uc010wly.1_Intron	NM_005827	NP_005818			solute carrier family 35, member B1							endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity				0																		---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76087407	76087408	+	Intron	INS	-	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76087407_76087408insA	uc002jud.2	+						TNRC6C_uc002juf.2_Intron	NM_018996	NP_061869			trinucleotide repeat containing 6C isoform 2						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)															---	---	---	---
TYK2	7297	broad.mit.edu	37	19	10477410	10477412	+	Intron	DEL	AAA	-	-			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10477410_10477412delAAA	uc002moc.3	-						TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Intron	NM_003331	NP_003322			tyrosine kinase 2						intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)															---	---	---	---
LSM4	25804	broad.mit.edu	37	19	18423239	18423239	+	Intron	DEL	G	-	-	rs34213757		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18423239delG	uc002niq.2	-							NM_012321	NP_036453			U6 snRNA-associated Sm-like protein 4						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding				0																		---	---	---	---
PSG3	5671	broad.mit.edu	37	19	43233825	43233825	+	Intron	DEL	G	-	-			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43233825delG	uc002oue.2	-						PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Intron	NM_021016	NP_066296			pregnancy specific beta-1-glycoprotein 3						defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)																---	---	---	---
SNX5	27131	broad.mit.edu	37	20	17923540	17923540	+	Intron	DEL	A	-	-	rs74179145		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17923540delA	uc002wqc.2	-						SNX5_uc002wqb.2_Intron|SNX5_uc002wqd.2_Intron|SNX5_uc002wqe.2_Intron	NM_014426	NP_055241			sorting nexin 5						cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			large_intestine(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	21	9865569	9865570	+	IGR	INS	-	A	A	rs77497487	by1000genomes	TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:9865569_9865570insA								None (None upstream) : None (None downstream)																																			---	---	---	---
FGD1	2245	broad.mit.edu	37	X	54497148	54497148	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54497148delG	uc004dtg.2	-	3	1261	c.527delC	c.(526-528)CCAfs	p.P176fs	FGD1_uc011moi.1_5'Flank	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	176	SH3-binding (Potential).|Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---
Unknown	0	broad.mit.edu	37	Y	28780698	28780699	+	IGR	INS	-	AG	AG			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:28780698_28780699insAG								None (None upstream) : None (None downstream)																																			---	---	---	---
ACTRT2	140625	broad.mit.edu	37	1	2938986	2938986	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2938986G>C	uc001ajz.2	+	1	941	c.736G>C	c.(736-738)GAC>CAC	p.D246H		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	246						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)														---	---	---	---
MFN2	9927	broad.mit.edu	37	1	12069766	12069766	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12069766C>G	uc001atn.3	+	18	2640	c.2187C>G	c.(2185-2187)AGC>AGG	p.S729R	MFN2_uc009vni.2_Missense_Mutation_p.S729R	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	729	Cytoplasmic (Potential).|Potential.				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)														---	---	---	---
MECR	51102	broad.mit.edu	37	1	29520696	29520696	+	Intron	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29520696G>A	uc001brq.1	-						MECR_uc001brp.1_Intron|MECR_uc001brr.1_Intron|MECR_uc001brs.1_Intron	NM_016011	NP_057095			trans-2-enoyl-CoA reductase, mitochondrial						fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			ovary(1)	1		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)														---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34182101	34182101	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34182101C>T	uc001bxn.1	-	20	2911	c.2882G>A	c.(2881-2883)GGT>GAT	p.G961D	CSMD2_uc001bxm.1_Missense_Mutation_p.G1001D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	961	Extracellular (Potential).|CUB 6.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45295064	45295064	+	Intron	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45295064C>T	uc010olf.1	-						PTCH2_uc010olg.1_Intron	NM_003738	NP_003729			patched 2						protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)													Basal_Cell_Nevus_syndrome				---	---	---	---
DIO1	1733	broad.mit.edu	37	1	54360179	54360179	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54360179G>A	uc010onx.1	+	1	319	c.296G>A	c.(295-297)CGC>CAC	p.R99H	DIO1_uc010onw.1_Intron|DIO1_uc009vzl.2_Missense_Mutation_p.R99H|DIO1_uc001cwb.2_Missense_Mutation_p.R99H|DIO1_uc010ony.1_Missense_Mutation_p.R99H|DIO1_uc001cwd.2_RNA|DIO1_uc001cwe.2_RNA|DIO1_uc001cwf.2_Intron|DIO1_uc001cwg.2_Intron	NM_000792	NP_000783	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I isoform a	99					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity				0																		---	---	---	---
GNG12	55970	broad.mit.edu	37	1	68171254	68171254	+	Silent	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:68171254C>T	uc001dea.1	-	4	291	c.99G>A	c.(97-99)TCG>TCA	p.S33S		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	G-protein gamma-12 subunit precursor	33					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0																		---	---	---	---
LPPR4	9890	broad.mit.edu	37	1	99772187	99772187	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:99772187C>T	uc001dse.2	+	7	2019	c.1913C>T	c.(1912-1914)TCC>TTC	p.S638F	LPPR4_uc010oue.1_Missense_Mutation_p.S580F	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	638							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)														---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103544369	103544369	+	Silent	SNP	A	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:103544369A>T	uc001dul.2	-	3	651	c.333T>A	c.(331-333)ATT>ATA	p.I111I	COL11A1_uc001dum.2_Silent_p.I111I|COL11A1_uc001dun.2_Silent_p.I111I|COL11A1_uc009weh.2_Silent_p.I111I	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	111	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)														---	---	---	---
ALX3	257	broad.mit.edu	37	1	110607471	110607471	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110607471C>T	uc001dzb.2	-	2	420	c.332G>A	c.(331-333)CGA>CAA	p.R111Q		NM_006492	NP_006483	O95076	ALX3_HUMAN	aristaless-like homeobox 3	111						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)														---	---	---	---
GJA5	2702	broad.mit.edu	37	1	147230319	147230319	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:147230319C>T	uc001eps.1	-	2	1169	c.1028G>A	c.(1027-1029)CGT>CAT	p.R343H	GJA5_uc001ept.1_Missense_Mutation_p.R343H	NM_181703	NP_859054	P36382	CXA5_HUMAN	connexin 40	343	Cytoplasmic (Potential).				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				ovary(1)	1	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)															---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154127377	154127377	+	Silent	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154127377G>A	uc001fdw.2	-	1	216	c.144C>T	c.(142-144)TTC>TTT	p.F48F	NUP210L_uc010peh.1_Silent_p.F48F	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	48						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)															---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159906263	159906263	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159906263C>T	uc001fur.2	-	6	797	c.599G>A	c.(598-600)AGC>AAC	p.S200N	IGSF9_uc001fuq.2_Missense_Mutation_p.S200N	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	200	Ig-like 2.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)													OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PFDN2	5202	broad.mit.edu	37	1	161070656	161070656	+	Intron	SNP	G	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161070656G>T	uc001fxu.2	-							NM_012394	NP_036526			prefoldin subunit 2						'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding				0	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)															---	---	---	---
TBX19	9095	broad.mit.edu	37	1	168260524	168260524	+	Silent	SNP	C	T	T	rs148222296		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168260524C>T	uc001gfl.2	+	2	381	c.330C>T	c.(328-330)CCC>CCT	p.P110P	TBX19_uc001gfj.3_Silent_p.P41P	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	110	T-box.				anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)																	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175087816	175087816	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175087816G>A	uc001gkl.1	+	11	2619	c.2506G>A	c.(2506-2508)GGA>AGA	p.G836R		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	836	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)														---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184787881	184787881	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:184787881A>G	uc001gra.2	-	9	1258	c.1064T>C	c.(1063-1065)ATG>ACG	p.M355T	FAM129A_uc001grb.1_Missense_Mutation_p.M118T|FAM129A_uc009wyh.1_Missense_Mutation_p.M183T|FAM129A_uc009wyi.1_Missense_Mutation_p.M153T	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	355					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4																		---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200584676	200584676	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200584676G>C	uc010ppk.1	-	3	1613	c.1174C>G	c.(1174-1176)CAC>GAC	p.H392D	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	392	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7																		---	---	---	---
TNNT2	7139	broad.mit.edu	37	1	201337322	201337322	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201337322G>A	uc001gwf.2	-	6	200	c.131C>T	c.(130-132)GCA>GTA	p.A44V	TNNT2_uc001gwg.2_Missense_Mutation_p.A34V|TNNT2_uc001gwh.2_Missense_Mutation_p.A29V|TNNT2_uc001gwi.2_Missense_Mutation_p.A44V|TNNT2_uc009wzr.2_5'UTR|TNNT2_uc009wzs.1_5'Flank|TNNT2_uc001gwk.1_5'UTR|TNNT2_uc009wzt.1_Missense_Mutation_p.A34V|TNNT2_uc001gwl.1_RNA	NM_000364	NP_000355	P45379	TNNT2_HUMAN	troponin T type 2, cardiac isoform 1	44					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding				0																		---	---	---	---
FAM177B	400823	broad.mit.edu	37	1	222920036	222920036	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:222920036A>C	uc001hnt.2	+	3	415	c.149A>C	c.(148-150)CAG>CCG	p.Q50P	uc001hnr.1_Intron|FAM177B_uc009xeb.2_RNA	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	hypothetical protein LOC400823	50										ovary(1)	1																		---	---	---	---
OR2L3	391192	broad.mit.edu	37	1	248224383	248224383	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248224383C>T	uc001idx.1	+	1	400	c.400C>T	c.(400-402)CGC>TGC	p.R134C	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	134	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)															---	---	---	---
TPO	7173	broad.mit.edu	37	2	1500379	1500379	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1500379G>T	uc002qww.2	+	13	2319	c.2228G>T	c.(2227-2229)GGC>GTC	p.G743V	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.G686V|TPO_uc002qwr.2_Missense_Mutation_p.G743V|TPO_uc002qwx.2_Missense_Mutation_p.G686V|TPO_uc010yio.1_Missense_Mutation_p.G570V|TPO_uc010yip.1_Missense_Mutation_p.G743V|TPO_uc002qwy.1_Missense_Mutation_p.G83V|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	743	Extracellular (Potential).|Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21238012	21238012	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21238012C>G	uc002red.2	-	23	3757	c.3629G>C	c.(3628-3630)AGA>ACA	p.R1210T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1210					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32640080	32640080	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32640080C>A	uc010ezu.2	+	10	1855	c.1721C>A	c.(1720-1722)ACA>AAA	p.T574K		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	574					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
EPAS1	2034	broad.mit.edu	37	2	46607710	46607710	+	Silent	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:46607710C>T	uc002ruv.2	+	12	2387	c.1899C>T	c.(1897-1899)GGC>GGT	p.G633G	EPAS1_uc002ruw.2_Silent_p.G99G	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	633					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
HSPC159	29094	broad.mit.edu	37	2	64685502	64685502	+	Silent	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:64685502G>A	uc002scy.3	+	5	812	c.459G>A	c.(457-459)ACG>ACA	p.T153T		NM_014181	NP_054900	Q3ZCW2	LEGL_HUMAN	galectin-related protein	153	Galectin.					intracellular	sugar binding				0																		---	---	---	---
GFPT1	2673	broad.mit.edu	37	2	69569333	69569333	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69569333C>T	uc002sfh.2	-	12	1279	c.1100G>A	c.(1099-1101)CGG>CAG	p.R367Q		NM_002056	NP_002047	Q06210	GFPT1_HUMAN	glucosamine-fructose-6-phosphate	385	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			skin(1)	1																		---	---	---	---
SPR	6697	broad.mit.edu	37	2	73118535	73118535	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73118535C>T	uc002sik.2	+	3	705	c.655C>T	c.(655-657)CGA>TGA	p.R219*		NM_003124	NP_003115	P35270	SPRE_HUMAN	sepiapterin reductase	219					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			ovary(2)	2																		---	---	---	---
MOGS	7841	broad.mit.edu	37	2	74689430	74689430	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74689430C>T	uc010ffj.2	-	4	1649	c.1486G>A	c.(1486-1488)GCC>ACC	p.A496T	MOGS_uc010ffh.2_Missense_Mutation_p.A221T|MOGS_uc010yrt.1_Missense_Mutation_p.A377T|MOGS_uc010ffi.2_Missense_Mutation_p.A390T	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	496	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0																		---	---	---	---
TEKT4	150483	broad.mit.edu	37	2	95537520	95537520	+	Missense_Mutation	SNP	C	T	T	rs75859449		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95537520C>T	uc002stw.1	+	1	289	c.196C>T	c.(196-198)CGG>TGG	p.R66W	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	66					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3																		---	---	---	---
IL1RL2	8808	broad.mit.edu	37	2	102842401	102842401	+	Silent	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102842401G>A	uc002tbs.2	+	9	1161	c.1035G>A	c.(1033-1035)TTG>TTA	p.L345L	IL1RL2_uc002tbt.2_Silent_p.L227L	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	345	Helical; (Potential).				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2																		---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135926230	135926230	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135926230G>T	uc002tuj.2	+	24	2850	c.2825G>T	c.(2824-2826)CGC>CTC	p.R942L	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.R949L|RAB3GAP1_uc010fng.2_Missense_Mutation_p.R767L|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	942						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)														---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141665568	141665568	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141665568C>T	uc002tvj.1	-	22	4370	c.3398G>A	c.(3397-3399)AGT>AAT	p.S1133N	LRP1B_uc010fnl.1_Missense_Mutation_p.S315N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1133	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218747129	218747129	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218747129G>A	uc002vgt.2	-	15	1275	c.877C>T	c.(877-879)CGA>TGA	p.R293*	TNS1_uc002vgr.2_Nonsense_Mutation_p.R293*|TNS1_uc002vgs.2_Nonsense_Mutation_p.R293*|TNS1_uc010zjv.1_Nonsense_Mutation_p.R293*|TNS1_uc010fvj.1_Nonsense_Mutation_p.R361*|TNS1_uc010fvk.1_Nonsense_Mutation_p.R418*|TNS1_uc002vgu.3_Nonsense_Mutation_p.R324*|TNS1_uc010fvi.1_5'UTR	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	293	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)														---	---	---	---
TMPPE	643853	broad.mit.edu	37	3	33135129	33135129	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33135129G>A	uc003cfk.2	-	2	750	c.559C>T	c.(559-561)CCC>TCC	p.P187S	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.P50S	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN	transmembrane protein with	187						integral to membrane	metal ion binding				0																		---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47042669	47042669	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47042669G>C	uc003cqp.2	+	28	4663	c.4484G>C	c.(4483-4485)AGC>ACC	p.S1495T	NBEAL2_uc010hjm.1_Missense_Mutation_p.S872T|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1495							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)														---	---	---	---
MAP4	4134	broad.mit.edu	37	3	47951317	47951317	+	Intron	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47951317C>T	uc003csb.2	-						MAP4_uc003csc.3_Intron|MAP4_uc011bbf.1_Intron|MAP4_uc003cry.2_Missense_Mutation_p.E139K|MAP4_uc003csa.3_Missense_Mutation_p.E139K|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Missense_Mutation_p.E139K	NM_002375	NP_002366			microtubule-associated protein 4 isoform 1						negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)														---	---	---	---
ARIH2	10425	broad.mit.edu	37	3	49006074	49006074	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49006074A>G	uc003cvb.2	+	7	958	c.646A>G	c.(646-648)AGG>GGG	p.R216G	ARIH2_uc003cvc.2_Missense_Mutation_p.R216G|ARIH2_uc003cvf.2_Missense_Mutation_p.R134G|ARIH2_uc010hkl.2_Missense_Mutation_p.R216G	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	216	IBR-type.				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)														---	---	---	---
AMT	275	broad.mit.edu	37	3	49455114	49455114	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49455114C>A	uc003cww.2	-	9	1200	c.1071G>T	c.(1069-1071)AAG>AAT	p.K357N	AMT_uc011bcn.1_3'UTR|AMT_uc003cwx.2_Missense_Mutation_p.K357N|AMT_uc011bco.1_Missense_Mutation_p.K313N|AMT_uc003cwy.2_Missense_Mutation_p.K309N|AMT_uc011bcp.1_Missense_Mutation_p.K260N|AMT_uc011bcq.1_Missense_Mutation_p.K301N	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase isoform 1 precursor	357					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)													---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53778854	53778854	+	Silent	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53778854G>A	uc003dgv.3	+	23	3169	c.3006G>A	c.(3004-3006)AAG>AAA	p.K1002K	CACNA1D_uc003dgu.3_Silent_p.K1022K|CACNA1D_uc003dgy.3_Silent_p.K1002K|CACNA1D_uc003dgw.3_Silent_p.K669K|CACNA1D_uc003dgx.1_Silent_p.K150K	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1002	Cytoplasmic (Potential).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)													---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433107	73433107	+	Silent	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73433107G>A	uc003dpl.1	-	10	2706	c.2610C>T	c.(2608-2610)CAC>CAT	p.H870H	PDZRN3_uc011bgh.1_Silent_p.H527H|PDZRN3_uc010hoe.1_Silent_p.H568H|PDZRN3_uc011bgf.1_Silent_p.H587H|PDZRN3_uc011bgg.1_Silent_p.H590H	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	870							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)														---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	97356746	97356746	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97356746G>C	uc010how.1	+	14	2647	c.2604G>C	c.(2602-2604)CAG>CAC	p.Q868H	EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.3_Missense_Mutation_p.Q260H|EPHA6_uc003drr.3_Missense_Mutation_p.Q260H|EPHA6_uc003drt.2_Missense_Mutation_p.Q260H|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	773	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16																		---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113377235	113377235	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113377235G>C	uc003eam.2	-	7	3705	c.3294C>G	c.(3292-3294)TTC>TTG	p.F1098L	KIAA2018_uc003eal.2_Missense_Mutation_p.F1042L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1098					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---
RBP1	5947	broad.mit.edu	37	3	139236484	139236484	+	Silent	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:139236484G>A	uc003eti.2	-	4	690	c.579C>T	c.(577-579)TTC>TTT	p.F193F		NM_002899	NP_002890	P09455	RET1_HUMAN	retinol binding protein 1, cellular isoform a	131						cytoplasm	retinal binding|retinol binding|transporter activity				0					Vitamin A(DB00162)													---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151162781	151162781	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151162781T>G	uc011bod.1	-	4	4988	c.4988A>C	c.(4987-4989)AAC>ACC	p.N1663T		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1663	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157188094	157188094	+	Intron	SNP	C	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:157188094C>G	uc003fbj.1	-						VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron|VEPH1_uc003fbm.2_Intron|VEPH1_uc003fbn.2_Intron	NM_024621	NP_078897			ventricular zone expressed PH domain homolog 1							plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)															---	---	---	---
HGFAC	3083	broad.mit.edu	37	4	3446377	3446377	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3446377G>A	uc003ghc.2	+	7	761	c.758G>A	c.(757-759)GGG>GAG	p.G253E	HGFAC_uc010icw.2_Missense_Mutation_p.G253E	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	253	EGF-like 2.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)														---	---	---	---
PPARGC1A	10891	broad.mit.edu	37	4	23886497	23886497	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:23886497G>C	uc003gqs.2	-	2	232	c.112C>G	c.(112-114)CTT>GTT	p.L38V	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_5'Flank|PPARGC1A_uc010ier.1_RNA|PPARGC1A_uc003gqu.3_Missense_Mutation_p.L38V	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	38					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)																---	---	---	---
C4orf19	55286	broad.mit.edu	37	4	37592414	37592414	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:37592414T>G	uc003gsw.3	+	4	920	c.737T>G	c.(736-738)GTG>GGG	p.V246G	C4orf19_uc003gsy.3_Missense_Mutation_p.V246G	NM_001104629	NP_001098099	Q8IY42	CD019_HUMAN	hypothetical protein LOC55286	246											0																		---	---	---	---
C4orf40	401137	broad.mit.edu	37	4	71024501	71024501	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71024501C>A	uc003hfa.3	+	4	605	c.532C>A	c.(532-534)CCT>ACT	p.P178T	C4orf40_uc003hfb.3_Missense_Mutation_p.P178T	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	hypothetical protein LOC401137 precursor	178	Ala-rich.					extracellular region					0																		---	---	---	---
CDKL2	8999	broad.mit.edu	37	4	76539472	76539472	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76539472A>C	uc003hiq.2	-	3	855	c.330T>G	c.(328-330)ATT>ATG	p.I110M	CDKL2_uc011cbp.1_Missense_Mutation_p.I110M|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2	110	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(2)|stomach(2)|breast(2)|skin(1)	7			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)															---	---	---	---
RASGEF1B	153020	broad.mit.edu	37	4	82369254	82369254	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:82369254G>C	uc003hmi.1	-	5	767	c.623C>G	c.(622-624)ACG>AGG	p.T208R	RASGEF1B_uc003hmj.1_Missense_Mutation_p.T207R|RASGEF1B_uc010ijq.1_Missense_Mutation_p.T166R	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	208	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0																		---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104101522	104101522	+	Silent	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104101522G>A	uc003hxb.1	-	13	1278	c.1188C>T	c.(1186-1188)AAC>AAT	p.N396N	CENPE_uc003hxc.1_Silent_p.N396N	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	396	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)														---	---	---	---
SYNPO2	171024	broad.mit.edu	37	4	119951305	119951305	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119951305G>T	uc003icm.3	+	4	1571	c.1375G>T	c.(1375-1377)GTT>TTT	p.V459F	SYNPO2_uc010ina.2_Missense_Mutation_p.V459F|SYNPO2_uc010inb.2_Missense_Mutation_p.V459F|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.V387F	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	459						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2																		---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134072365	134072365	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:134072365A>C	uc003iha.2	+	1	1896	c.1070A>C	c.(1069-1071)GAG>GCG	p.E357A	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.E357A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	357	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)														---	---	---	---
DCLK2	166614	broad.mit.edu	37	4	151170753	151170753	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:151170753G>C	uc003ilm.3	+	15	2090	c.1990G>C	c.(1990-1992)GAG>CAG	p.E664Q	DCLK2_uc003iln.3_Missense_Mutation_p.E663Q|DCLK2_uc003ilo.3_Missense_Mutation_p.E681Q|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	664					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)																	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14485253	14485253	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14485253G>A	uc003jff.2	+	47	6739	c.6733G>A	c.(6733-6735)GTG>ATG	p.V2245M	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.V1894M	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2245	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)																	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23521174	23521174	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:23521174G>T	uc003jgo.2	+	6	576	c.394G>T	c.(394-396)GAA>TAA	p.E132*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	132					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6															HNSCC(3;0.000094)			---	---	---	---
OSMR	9180	broad.mit.edu	37	5	38925432	38925432	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38925432C>T	uc003jln.1	+	15	2538	c.2171C>T	c.(2170-2172)CCC>CTC	p.P724L	OSMR_uc011cpj.1_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	724	Fibronectin type-III 4.|Extracellular (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)																	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43653307	43653307	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43653307G>A	uc003joe.2	+	14	2306	c.2051G>A	c.(2050-2052)GGT>GAT	p.G684D	NNT_uc003jof.2_Missense_Mutation_p.G684D	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	684	Helical; (Potential).				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)													---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101631703	101631703	+	Nonsense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101631703G>C	uc003knm.2	-	1	551	c.264C>G	c.(262-264)TAC>TAG	p.Y88*		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	88	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)														---	---	---	---
APC	324	broad.mit.edu	37	5	112177901	112177901	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112177901C>T	uc010jby.2	+	16	6990	c.6610C>T	c.(6610-6612)CGA>TGA	p.R2204*	APC_uc011cvt.1_Nonsense_Mutation_p.R2186*|APC_uc003kpz.3_Nonsense_Mutation_p.R2204*|APC_uc003kpy.3_Nonsense_Mutation_p.R2204*|APC_uc010jbz.2_Nonsense_Mutation_p.R1921*|APC_uc010jca.2_Nonsense_Mutation_p.R1504*	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2204	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)			12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			---	---	---	---
LYRM7	90624	broad.mit.edu	37	5	130535217	130535217	+	Intron	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:130535217C>T	uc003kvg.1	+							NM_181705	NP_859056			Lyrm7 homolog												0		all_cancers(142;0.0377)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
PCDHA8	56140	broad.mit.edu	37	5	140222761	140222761	+	Missense_Mutation	SNP	C	A	A	rs145175505		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140222761C>A	uc003lhs.2	+	1	1855	c.1855C>A	c.(1855-1857)CGC>AGC	p.R619S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R619S	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	619	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140751796	140751796	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140751796G>A	uc003ljw.1	+	1	1835	c.1835G>A	c.(1834-1836)AGC>AAC	p.S612N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.S612N|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	612	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGC5	56097	broad.mit.edu	37	5	140870921	140870921	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140870921C>G	uc003lla.1	+	1	2114	c.2114C>G	c.(2113-2115)TCC>TGC	p.S705C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.S705C	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	705	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150914081	150914081	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150914081C>G	uc003lue.3	-	12	9329	c.9316G>C	c.(9316-9318)GTG>CTG	p.V3106L	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_5'Flank	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3106	Extracellular (Potential).|Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176637132	176637132	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176637132G>T	uc003mfr.3	+	5	1870	c.1732G>T	c.(1732-1734)GCA>TCA	p.A578S	NSD1_uc003mft.3_Missense_Mutation_p.A309S|NSD1_uc003mfs.1_Missense_Mutation_p.A475S|NSD1_uc011dfx.1_Missense_Mutation_p.A226S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	578					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)				T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			---	---	---	---
FLT4	2324	broad.mit.edu	37	5	180030234	180030234	+	Silent	SNP	G	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180030234G>T	uc003mlz.3	-	30	4129	c.4050C>A	c.(4048-4050)TCC>TCA	p.S1350S		NM_182925	NP_891555	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 1	Error:Variant_position_missing_in_P35916_after_alignment					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)									Congenital_Hereditary_Lymphedema				---	---	---	---
FAM50B	26240	broad.mit.edu	37	6	3850733	3850733	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:3850733G>A	uc003mvu.2	+	2	800	c.688G>A	c.(688-690)GCC>ACC	p.A230T		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	230						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)																---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12120526	12120526	+	Silent	SNP	T	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:12120526T>C	uc003nac.2	+	4	677	c.498T>C	c.(496-498)AGT>AGC	p.S166S	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	166					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)																---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17629536	17629536	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17629536G>C	uc003ncd.1	-	18	3094	c.2894C>G	c.(2893-2895)TCT>TGT	p.S965C	NUP153_uc011dje.1_Missense_Mutation_p.S996C|NUP153_uc010jpl.1_Missense_Mutation_p.S923C	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	965					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)															---	---	---	---
HIST1H3D	8351	broad.mit.edu	37	6	26197279	26197279	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26197279G>C	uc003ngv.2	-	2	597	c.200C>G	c.(199-201)CCA>CGA	p.P67R	HIST1H2BF_uc003ngx.2_5'Flank	NM_003530	NP_003521	P68431	H31_HUMAN	histone cluster 1, H3d	67					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.196)																---	---	---	---
OR2J2	26707	broad.mit.edu	37	6	29141962	29141962	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29141962G>A	uc011dlm.1	+	1	652	c.550G>A	c.(550-552)GCA>ACA	p.A184T		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	184	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64422326	64422326	+	Silent	SNP	T	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64422326T>C	uc003pep.1	+	15	4868	c.4842T>C	c.(4840-4842)TCT>TCC	p.S1614S	PHF3_uc003pen.2_Silent_p.S1526S|PHF3_uc011dxs.1_Silent_p.S883S	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1614					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)															---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725916	87725916	+	Silent	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:87725916G>A	uc003pli.2	+	2	1567	c.864G>A	c.(862-864)AAG>AAA	p.K288K		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	288	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)													---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144858786	144858786	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144858786C>A	uc003qkt.2	+	43	6394	c.6302C>A	c.(6301-6303)ACA>AAA	p.T2101K		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2101					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
FBXO30	84085	broad.mit.edu	37	6	146126159	146126159	+	Silent	SNP	A	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146126159A>G	uc003qla.2	-	2	1582	c.1383T>C	c.(1381-1383)TTT>TTC	p.F461F	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	461							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)														---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152658021	152658021	+	Silent	SNP	A	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152658021A>G	uc010kiw.2	-	76	13085	c.12483T>C	c.(12481-12483)TCT>TCC	p.S4161S	SYNE1_uc003qot.3_Silent_p.S4090S|SYNE1_uc003qou.3_Silent_p.S4161S|SYNE1_uc010kja.1_Silent_p.S866S|SYNE1_uc010kiz.2_5'Flank	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4161	Spectrin 11.|Cytoplasmic (Potential).				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)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152671388	152671388	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152671388A>G	uc010kiw.2	-	72	12418	c.11816T>C	c.(11815-11817)CTG>CCG	p.L3939P	SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Missense_Mutation_p.L3939P|SYNE1_uc010kja.1_Missense_Mutation_p.L644P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3939	Cytoplasmic (Potential).				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)			---	---	---	---
BZW2	28969	broad.mit.edu	37	7	16745690	16745690	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:16745690G>A	uc003stl.2	+	12	1415	c.1237G>A	c.(1237-1239)GAA>AAA	p.E413K	BZW2_uc003stm.2_Missense_Mutation_p.E219K|BZW2_uc003stj.2_Missense_Mutation_p.E413K|BZW2_uc003stk.2_Missense_Mutation_p.E337K|BZW2_uc003stp.2_Missense_Mutation_p.E261K|BZW2_uc010kua.2_Missense_Mutation_p.E372K	NM_001159767	NP_001153239	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	413	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding			ovary(2)	2	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)														---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48559652	48559652	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48559652T>C	uc003toq.2	+	53	13838	c.13813T>C	c.(13813-13815)TAT>CAT	p.Y4605H	ABCA13_uc010kys.1_Missense_Mutation_p.Y1680H|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.Y335H	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4605					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100685356	100685356	+	Silent	SNP	A	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100685356A>G	uc003uxp.1	+	3	10712	c.10659A>G	c.(10657-10659)CAA>CAG	p.Q3553Q	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3553	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100855607	100855607	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100855607C>A	uc003uyd.2	-	10	1510	c.1054G>T	c.(1054-1056)GAC>TAC	p.D352Y	PLOD3_uc010lhs.2_5'UTR	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	352					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110764339	110764339	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:110764339C>T	uc003vft.3	+	4	2557	c.1511C>T	c.(1510-1512)GCT>GTT	p.A504V	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.A504V|LRRN3_uc003vfs.3_Missense_Mutation_p.A504V	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	504	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)														---	---	---	---
LRGUK	136332	broad.mit.edu	37	7	133876492	133876492	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:133876492A>T	uc003vrm.1	+	12	1436	c.1420A>T	c.(1420-1422)ATG>TTG	p.M474L		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	474	Guanylate kinase-like.						ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5																		---	---	---	---
CLCN1	1180	broad.mit.edu	37	7	143048760	143048760	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143048760C>T	uc003wcr.1	+	23	2756	c.2669C>T	c.(2668-2670)ACG>ATG	p.T890M	CLCN1_uc011ktc.1_Missense_Mutation_p.T502M	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	890	Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)																	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	13072247	13072247	+	Intron	SNP	T	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:13072247T>A	uc003wwm.2	-						DLC1_uc003wwl.1_Intron|DLC1_uc003wwn.2_Missense_Mutation_p.K462M	NM_182643	NP_872584			deleted in liver cancer 1 isoform 1						actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---
FAM160B2	64760	broad.mit.edu	37	8	21959240	21959240	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21959240G>A	uc011kyx.1	+	14	1780	c.1729G>A	c.(1729-1731)GTC>ATC	p.V577I	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	577											0																		---	---	---	---
HOOK3	84376	broad.mit.edu	37	8	42868523	42868523	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42868523G>C	uc003xpr.2	+	21	2238	c.1996G>C	c.(1996-1998)GTT>CTT	p.V666L		NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	666	Potential.|Required for interaction with MSR1.|Required for association with Golgi.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)					T	RET	papillary thyroid								---	---	---	---
LYN	4067	broad.mit.edu	37	8	56910959	56910959	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56910959C>G	uc003xsk.3	+	11	1387	c.1105C>G	c.(1105-1107)CGA>GGA	p.R369G	LYN_uc003xsl.3_Missense_Mutation_p.R348G	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	369	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)															---	---	---	---
IMPAD1	54928	broad.mit.edu	37	8	57878831	57878831	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57878831G>A	uc003xte.3	-	4	1010	c.727C>T	c.(727-729)CGT>TGT	p.R243C		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	243						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			ovary(1)	1		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)																---	---	---	---
BHLHE22	27319	broad.mit.edu	37	8	65494388	65494388	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:65494388C>A	uc003xvi.2	+	1	1575	c.1041C>A	c.(1039-1041)TAC>TAA	p.Y347*	LOC401463_uc003xvh.2_5'UTR	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	347	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113256710	113256710	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113256710G>C	uc003ynu.2	-	65	10474	c.10315C>G	c.(10315-10317)CAG>GAG	p.Q3439E	CSMD3_uc003yns.2_Missense_Mutation_p.Q2641E|CSMD3_uc003ynt.2_Missense_Mutation_p.Q3399E|CSMD3_uc011lhx.1_Missense_Mutation_p.Q3270E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3439	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131795942	131795942	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:131795942C>T	uc003ytd.3	-	17	3519	c.3263G>A	c.(3262-3264)CGG>CAG	p.R1088Q	ADCY8_uc010mds.2_Missense_Mutation_p.R957Q	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1088	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	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)												HNSCC(32;0.087)			---	---	---	---
BAI1	575	broad.mit.edu	37	8	143570781	143570781	+	Missense_Mutation	SNP	G	C	C	rs146388200	by1000genomes	TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143570781G>C	uc003ywm.2	+	15	2796	c.2613G>C	c.(2611-2613)GAG>GAC	p.E871D		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	871	Extracellular (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)																	---	---	---	---
LYNX1	66004	broad.mit.edu	37	8	143856787	143856787	+	Intron	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143856787G>C	uc003yxc.1	-						LYNX1_uc003yxb.2_Intron|LYNX1_uc003yxd.1_Intron|LYNX1_uc003yxe.1_Intron	NM_177476	NP_803429			Ly-6 neurotoxin-like protein 1 isoform c							anchored to membrane|plasma membrane					0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)																	---	---	---	---
KIAA2026	158358	broad.mit.edu	37	9	5968974	5968974	+	Silent	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5968974G>A	uc003zjq.3	-	3	1473	c.1257C>T	c.(1255-1257)CAC>CAT	p.H419H		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	419										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)														---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8317903	8317903	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8317903G>C	uc003zkk.2	-	45	6421	c.5710C>G	c.(5710-5712)CTG>GTG	p.L1904V	PTPRD_uc003zkp.2_Missense_Mutation_p.L1498V|PTPRD_uc003zkq.2_Missense_Mutation_p.L1497V|PTPRD_uc003zkr.2_Missense_Mutation_p.L1488V|PTPRD_uc003zks.2_Missense_Mutation_p.L1497V|PTPRD_uc003zkl.2_Missense_Mutation_p.L1895V|PTPRD_uc003zkm.2_Missense_Mutation_p.L1891V|PTPRD_uc003zkn.2_Missense_Mutation_p.L1493V|PTPRD_uc003zko.2_Missense_Mutation_p.L1494V	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1904	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)											TSP Lung(15;0.13)			---	---	---	---
C9orf100	84904	broad.mit.edu	37	9	35662219	35662219	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35662219C>G	uc003zxm.1	-	8	1061	c.949G>C	c.(949-951)GAG>CAG	p.E317Q	C9orf100_uc003zxl.2_RNA	NM_032818	NP_116207	Q8N4T4	CI100_HUMAN	hypothetical protein LOC84904	317	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
SHC3	53358	broad.mit.edu	37	9	91686168	91686168	+	Splice_Site	SNP	C	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:91686168C>A	uc004aqg.2	-	5	1037	c.730_splice	c.e5-1	p.I244_splice		NM_016848	NP_058544			src homology 2 domain-containing transforming						central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4																		---	---	---	---
CRB2	286204	broad.mit.edu	37	9	126134632	126134632	+	Intron	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:126134632G>A	uc004bnx.1	+						CRB2_uc004bnw.1_Intron	NM_173689	NP_775960			crumbs homolog 2 precursor							extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1																		---	---	---	---
METTL11A	28989	broad.mit.edu	37	9	132397491	132397491	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132397491C>G	uc004byd.1	+	4	614	c.420C>G	c.(418-420)CAC>CAG	p.H140Q	METTL11A_uc010myw.1_RNA|METTL11A_uc011mbs.1_Missense_Mutation_p.T112S|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.1_3'UTR|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_3'UTR|ASB6_uc010myx.1_3'UTR	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	methyltransferase like 11A	140					chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity				0																		---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	402365	402365	+	Splice_Site	SNP	C	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:402365C>A	uc001ifp.2	-	24	3075	c.2985_splice	c.e24+1	p.R995_splice	DIP2C_uc009xhi.1_Splice_Site_p.R381_splice|DIP2C_uc010pzz.1_Missense_Mutation_p.V317L	NM_014974	NP_055789			DIP2 disco-interacting protein 2 homolog C							nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)														---	---	---	---
NET1	10276	broad.mit.edu	37	10	5494816	5494816	+	Intron	SNP	T	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5494816T>C	uc001iia.2	+						NET1_uc010qar.1_5'UTR|NET1_uc001iib.2_Intron|NET1_uc010qas.1_5'UTR	NM_001047160	NP_001040625			neuroepithelial cell transforming gene 1 isoform						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(1)	1																		---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18827202	18827202	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18827202C>T	uc001ipr.2	+	13	1456	c.1396C>T	c.(1396-1398)CCT>TCT	p.P466S	CACNB2_uc009xjz.1_Missense_Mutation_p.P216S|CACNB2_uc001ips.2_Missense_Mutation_p.P442S|CACNB2_uc001ipt.2_Missense_Mutation_p.P428S|CACNB2_uc001ipu.2_Missense_Mutation_p.P438S|CACNB2_uc001ipv.2_Missense_Mutation_p.P414S|CACNB2_uc009xka.1_Missense_Mutation_p.P400S|CACNB2_uc001ipw.2_Missense_Mutation_p.P373S|CACNB2_uc001ipx.2_Missense_Mutation_p.P411S|CACNB2_uc001ipz.2_Missense_Mutation_p.P388S|CACNB2_uc001ipy.2_Missense_Mutation_p.P412S|CACNB2_uc010qco.1_Missense_Mutation_p.P380S|CACNB2_uc001iqa.2_Missense_Mutation_p.P418S|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	466					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21461326	21461326	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21461326C>A	uc001iqk.2	-	2	504	c.150G>T	c.(148-150)AAG>AAT	p.K50N		NM_213569	NP_998734	O76041	NEBL_HUMAN	nebulette non-muscle isoform	712	Nebulin 20.			RAKENQKNISNVYYRGQLGRA -> PKETRKTSACLLQSSA GES (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2																		---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21461327	21461327	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21461327T>A	uc001iqk.2	-	2	503	c.149A>T	c.(148-150)AAG>ATG	p.K50M		NM_213569	NP_998734	O76041	NEBL_HUMAN	nebulette non-muscle isoform	712	Nebulin 20.			RAKENQKNISNVYYRGQLGRA -> PKETRKTSACLLQSSA GES (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2																		---	---	---	---
PPYR1	5540	broad.mit.edu	37	10	47087071	47087071	+	Silent	SNP	G	A	A	rs143217098		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:47087071G>A	uc001jee.2	+	3	707	c.288G>A	c.(286-288)CCG>CCA	p.P96P	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.P96P	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	96	Helical; Name=2; (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)|skin(1)	2																		---	---	---	---
LRRC18	474354	broad.mit.edu	37	10	50121975	50121975	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50121975G>A	uc001jhd.2	-	1	306	c.226C>T	c.(226-228)CGG>TGG	p.R76W	WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.R76W	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	76	LRR 3.					cytoplasm				ovary(1)|pancreas(1)	2																		---	---	---	---
COL13A1	1305	broad.mit.edu	37	10	71684726	71684726	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71684726G>A	uc001jpr.1	+	23	1795	c.1259G>A	c.(1258-1260)CGT>CAT	p.R420H	COL13A1_uc001jqj.1_Missense_Mutation_p.R420H|COL13A1_uc001jps.1_Missense_Mutation_p.R391H|COL13A1_uc001jpt.1_Missense_Mutation_p.R379H|COL13A1_uc001jpu.1_Missense_Mutation_p.R401H|COL13A1_uc001jpv.1_Missense_Mutation_p.R420H|COL13A1_uc001jpx.1_Missense_Mutation_p.R398H|COL13A1_uc001jpw.1_Missense_Mutation_p.R367H|COL13A1_uc001jpy.1_Missense_Mutation_p.R358H|COL13A1_uc001jpz.1_Missense_Mutation_p.R363H|COL13A1_uc001jqa.1_Missense_Mutation_p.R360H|COL13A1_uc001jqc.1_Missense_Mutation_p.R420H|COL13A1_uc001jqb.1_Missense_Mutation_p.R369H|COL13A1_uc001jql.2_Missense_Mutation_p.R420H|COL13A1_uc001jqd.1_Missense_Mutation_p.R408H|COL13A1_uc001jqe.1_Missense_Mutation_p.R403H|COL13A1_uc001jqf.1_Missense_Mutation_p.R401H|COL13A1_uc001jqg.1_Missense_Mutation_p.R398H|COL13A1_uc001jqh.1_Missense_Mutation_p.R420H|COL13A1_uc001jqi.1_Missense_Mutation_p.R420H|COL13A1_uc010qjf.1_Missense_Mutation_p.R210H|COL13A1_uc001jqk.1_Missense_Mutation_p.R258H	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	420	Extracellular (Potential).|Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)													---	---	---	---
ECD	11319	broad.mit.edu	37	10	74906052	74906052	+	Nonsense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:74906052G>C	uc001jtn.2	-	9	1352	c.1109C>G	c.(1108-1110)TCA>TGA	p.S370*	ECD_uc009xqx.2_Nonsense_Mutation_p.S370*|ECD_uc009xqy.2_Nonsense_Mutation_p.S327*|ECD_uc001jto.2_Nonsense_Mutation_p.S69*	NM_007265	NP_009196	O95905	SGT1_HUMAN	suppressor of S. cerevisiae gcr2 isoform 1	370					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			pancreas(1)	1	Prostate(51;0.0119)																	---	---	---	---
ZMYND17	118490	broad.mit.edu	37	10	75185821	75185821	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75185821C>T	uc001jud.2	-	5	883	c.817G>A	c.(817-819)GTG>ATG	p.V273M	ZMYND17_uc001juc.2_Missense_Mutation_p.V273M|ZMYND17_uc009xrh.2_Missense_Mutation_p.V296M|ZMYND17_uc009xrg.2_Intron	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	zinc finger, MYND domain containing 17	273							zinc ion binding			ovary(1)	1	Prostate(51;0.0119)																	---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	598413	598413	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:598413C>T	uc001lqe.2	+	9	1066	c.935C>T	c.(934-936)GCC>GTC	p.A312V	PHRF1_uc010qwc.1_Missense_Mutation_p.A312V|PHRF1_uc010qwd.1_Missense_Mutation_p.A311V|PHRF1_uc010qwe.1_Missense_Mutation_p.A308V|PHRF1_uc009ybz.1_Missense_Mutation_p.A103V	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	312	Arg-rich.						RNA polymerase binding|zinc ion binding				0																		---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	607264	607264	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:607264A>G	uc001lqe.2	+	14	1939	c.1808A>G	c.(1807-1809)GAC>GGC	p.D603G	PHRF1_uc010qwc.1_Missense_Mutation_p.D602G|PHRF1_uc010qwd.1_Missense_Mutation_p.D601G|PHRF1_uc010qwe.1_Missense_Mutation_p.D599G|PHRF1_uc009ybz.1_Missense_Mutation_p.D393G|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	603							RNA polymerase binding|zinc ion binding				0																		---	---	---	---
RBMXL2	27288	broad.mit.edu	37	11	7111351	7111351	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7111351G>A	uc001mfc.2	+	1	1187	c.1000G>A	c.(1000-1002)GAC>AAC	p.D334N		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	334	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
SCUBE2	57758	broad.mit.edu	37	11	9048919	9048919	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9048919C>T	uc001mhh.1	-	19	2686	c.2606G>A	c.(2605-2607)CGG>CAG	p.R869Q	SCUBE2_uc001mhi.1_Missense_Mutation_p.R841Q|SCUBE2_uc001mhj.1_Intron	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	869	CUB.					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)														---	---	---	---
MICAL2	9645	broad.mit.edu	37	11	12244241	12244241	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:12244241C>A	uc001mjz.2	+	11	1688	c.1400C>A	c.(1399-1401)CCA>CAA	p.P467Q	MICAL2_uc010rch.1_Missense_Mutation_p.P467Q|MICAL2_uc001mka.2_Missense_Mutation_p.P467Q|MICAL2_uc010rci.1_Missense_Mutation_p.P467Q|MICAL2_uc001mkb.2_Missense_Mutation_p.P467Q|MICAL2_uc001mkc.2_Missense_Mutation_p.P467Q|MICAL2_uc001mkd.2_Missense_Mutation_p.P296Q|MICAL2_uc010rcj.1_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	467						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)														---	---	---	---
CCDC73	493860	broad.mit.edu	37	11	32635062	32635062	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32635062C>G	uc001mtv.2	-	16	2846	c.2802G>C	c.(2800-2802)GAG>GAC	p.E934D		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	934										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)																	---	---	---	---
OR5M8	219484	broad.mit.edu	37	11	56258070	56258070	+	Silent	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56258070G>A	uc001nix.1	-	1	777	c.777C>T	c.(775-777)CTC>CTT	p.L259L		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)																	---	---	---	---
RTN4RL2	349667	broad.mit.edu	37	11	57244117	57244117	+	Silent	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57244117C>T	uc010rjt.1	+	3	996	c.996C>T	c.(994-996)TAC>TAT	p.Y332Y		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2 precursor	332					axon regeneration	anchored to plasma membrane	receptor activity				0																		---	---	---	---
SF3B2	10992	broad.mit.edu	37	11	65827302	65827302	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65827302A>T	uc001ogy.1	+	13	1491	c.1451A>T	c.(1450-1452)GAC>GTC	p.D484V		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	484					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3																		---	---	---	---
TCIRG1	10312	broad.mit.edu	37	11	67816583	67816583	+	Missense_Mutation	SNP	C	T	T	rs61730880		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67816583C>T	uc001one.2	+	15	1817	c.1709C>T	c.(1708-1710)ACG>ATG	p.T570M	TCIRG1_uc001ong.2_Missense_Mutation_p.T354M|TCIRG1_uc001onh.2_Missense_Mutation_p.T272M|TCIRG1_uc001oni.2_Missense_Mutation_p.T74M|TCIRG1_uc009ysd.2_5'Flank	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	570	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			ovary(1)	1																		---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77412169	77412169	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77412169T>C	uc001oyn.2	-	6	2225	c.2105A>G	c.(2104-2106)CAA>CGA	p.Q702R	RSF1_uc001oym.2_Missense_Mutation_p.Q450R	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	702					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)															---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88258580	88258580	+	Intron	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:88258580G>C	uc001pcq.2	-						GRM5_uc009yvm.2_Intron	NM_001143831	NP_001137303			glutamate receptor, metabotropic 5 isoform a						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)													---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103027275	103027275	+	Silent	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103027275G>A	uc001pho.2	+	26	4047	c.3903G>A	c.(3901-3903)CAG>CAA	p.Q1301Q	DYNC2H1_uc001phn.1_Silent_p.Q1301Q|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1301	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)														---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108383768	108383768	+	Silent	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108383768G>A	uc001pkk.2	-	6	2577	c.2466C>T	c.(2464-2466)TTC>TTT	p.F822F	EXPH5_uc010rvy.1_Silent_p.F634F|EXPH5_uc010rvz.1_Silent_p.F666F|EXPH5_uc010rwa.1_Silent_p.F746F	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	822					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)														---	---	---	---
ETS1	2113	broad.mit.edu	37	11	128359355	128359355	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128359355C>A	uc010sbs.1	-	3	549	c.233G>T	c.(232-234)CGG>CTG	p.R78L	ETS1_uc001qej.2_Missense_Mutation_p.R122L|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.R78L	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	78	PNT.				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)														---	---	---	---
TP53AIP1	63970	broad.mit.edu	37	11	128807499	128807499	+	Intron	SNP	C	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128807499C>G	uc001qey.2	-						TP53AIP1_uc001qex.2_Missense_Mutation_p.G72A|TP53AIP1_uc009zcm.1_RNA					RecName: Full=p53-regulated apoptosis-inducing protein 1;          Short=p53AIP1;						apoptosis	mitochondrion				lung(1)	1																		---	---	---	---
LRTM2	654429	broad.mit.edu	37	12	1943618	1943618	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1943618G>C	uc001qjt.2	+	5	1650	c.844G>C	c.(844-846)GGG>CGG	p.G282R	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.G282R|LRTM2_uc010sdx.1_Missense_Mutation_p.G282R|LRTM2_uc001qjv.2_Missense_Mutation_p.G44R	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	282	Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)															---	---	---	---
SLC2A3	6515	broad.mit.edu	37	12	8074090	8074090	+	Silent	SNP	G	A	A	rs146012904		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8074090G>A	uc001qtr.2	-	10	1672	c.1410C>T	c.(1408-1410)CAC>CAT	p.H470H		NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	470	Cytoplasmic (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)														---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29596410	29596410	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29596410G>C	uc001rix.1	-	25	3041	c.3041C>G	c.(3040-3042)CCT>CGT	p.P1014R		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	1014					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)																	---	---	---	---
WNT1	7471	broad.mit.edu	37	12	49373448	49373448	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49373448G>T	uc001rsu.2	+	2	500	c.302G>T	c.(301-303)CGC>CTC	p.R101L		NM_005430	NP_005421	P04628	WNT1_HUMAN	wingless-type MMTV integration site family,	101					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			kidney(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.244)														---	---	---	---
KRT83	3889	broad.mit.edu	37	12	52714852	52714852	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52714852C>T	uc001saf.2	-	1	331	c.268G>A	c.(268-270)GAG>AAG	p.E90K		NM_002282	NP_002273	P78385	KRT83_HUMAN	keratin 83	90	Head.				epidermis development	keratin filament	structural molecule activity			skin(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55420636	55420636	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55420636C>A	uc001sgp.3	+	2	791	c.413C>A	c.(412-414)GCT>GAT	p.A138D		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	138	Helix-loop-helix motif.				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4																		---	---	---	---
GEFT	115557	broad.mit.edu	37	12	58009044	58009044	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58009044G>T	uc001spb.2	+	11	1445	c.985G>T	c.(985-987)GTG>TTG	p.V329L	GEFT_uc009zpy.2_Missense_Mutation_p.V368L|GEFT_uc001soz.1_Intron|GEFT_uc001spa.2_Missense_Mutation_p.V223L|uc001spc.2_RNA|GEFT_uc001spd.2_Missense_Mutation_p.V34L	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	329	DH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)																	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78334097	78334097	+	Splice_Site	SNP	A	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78334097A>G	uc001syp.2	+	2	417	c.244_splice	c.e2-2	p.I82_splice	NAV3_uc001syo.2_Splice_Site_p.I82_splice	NM_014903	NP_055718			neuron navigator 3							nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78573323	78573323	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78573323C>A	uc001syp.2	+	29	5551	c.5378C>A	c.(5377-5379)ACA>AAA	p.T1793K	NAV3_uc001syo.2_Missense_Mutation_p.T1771K|NAV3_uc010sub.1_Missense_Mutation_p.T1250K|NAV3_uc009zsf.2_Missense_Mutation_p.T602K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1793						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---
SLC6A15	55117	broad.mit.edu	37	12	85257370	85257370	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85257370C>A	uc001szv.2	-	11	2159	c.1666G>T	c.(1666-1668)GAC>TAC	p.D556Y	SLC6A15_uc010sul.1_Missense_Mutation_p.D449Y|SLC6A15_uc001szw.1_Missense_Mutation_p.D264Y	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	556					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3																		---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101684666	101684666	+	Silent	SNP	A	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101684666A>G	uc001tia.1	+	8	1047	c.891A>G	c.(889-891)CAA>CAG	p.Q297Q	UTP20_uc009ztz.1_Silent_p.Q297Q	NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	297					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---
TRPV4	59341	broad.mit.edu	37	12	110232195	110232195	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110232195G>T	uc001tpj.1	-	7	1525	c.1430C>A	c.(1429-1431)TCC>TAC	p.S477Y	TRPV4_uc001tpg.1_Missense_Mutation_p.S443Y|TRPV4_uc001tph.1_Missense_Mutation_p.S430Y|TRPV4_uc001tpi.1_Missense_Mutation_p.S370Y|TRPV4_uc001tpk.1_Missense_Mutation_p.S477Y|TRPV4_uc001tpl.1_Missense_Mutation_p.S417Y	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	477	Helical; (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4																		---	---	---	---
HIP1R	9026	broad.mit.edu	37	12	123345075	123345075	+	Intron	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123345075G>C	uc001udj.1	+						HIP1R_uc001udk.1_Intron	NM_003959	NP_003950			huntingtin interacting protein-1-related						receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)												OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20025355	20025355	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20025355C>T	uc001umd.2	-	12	963	c.752G>A	c.(751-753)CGG>CAG	p.R251Q	TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.R140Q|TPTE2_uc001ume.2_Missense_Mutation_p.R174Q|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	251	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)														---	---	---	---
NBEA	26960	broad.mit.edu	37	13	36223918	36223918	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36223918A>G	uc001uvb.2	+	51	8040	c.7834A>G	c.(7834-7836)ATC>GTC	p.I2612V	NBEA_uc010abi.2_Missense_Mutation_p.I1268V|NBEA_uc010tee.1_Missense_Mutation_p.I405V|NBEA_uc010tef.1_Missense_Mutation_p.I405V|NBEA_uc001uvd.2_Missense_Mutation_p.I190V	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2612						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)														---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99532820	99532820	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99532820G>T	uc001vnt.2	-	26	2910	c.2855C>A	c.(2854-2856)ACC>AAC	p.T952N	DOCK9_uc001vnw.2_Missense_Mutation_p.T951N|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.T952N|DOCK9_uc010tis.1_Missense_Mutation_p.T951N|DOCK9_uc010tit.1_Missense_Mutation_p.T952N|DOCK9_uc010afu.1_Missense_Mutation_p.T798N	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	952					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
ANKRD10	55608	broad.mit.edu	37	13	111563089	111563089	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111563089G>A	uc001vrn.2	-	2	374	c.239C>T	c.(238-240)GCG>GTG	p.A80V	ANKRD10_uc001vro.1_Missense_Mutation_p.A80V|ANKRD10_uc001vrp.1_Missense_Mutation_p.A80V	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	80	ANK 2.									central_nervous_system(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)															---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20296431	20296431	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20296431A>G	uc010tkv.1	+	1	824	c.824A>G	c.(823-825)CAC>CGC	p.H275R		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	275	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33290805	33290805	+	Silent	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:33290805C>T	uc001wrq.2	+	13	3956	c.3786C>T	c.(3784-3786)GAC>GAT	p.D1262D		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1262					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)														---	---	---	---
SOS2	6655	broad.mit.edu	37	14	50587046	50587046	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50587046G>A	uc001wxs.3	-	22	3534	c.3436C>T	c.(3436-3438)CCT>TCT	p.P1146S	SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.P1113S	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	1146					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)																	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174364	63174364	+	Silent	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:63174364C>T	uc001xfx.2	-	11	2880	c.2829G>A	c.(2827-2829)TCG>TCA	p.S943S	KCNH5_uc001xfy.2_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	943	CAD (involved in subunit assembly) (By similarity).|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)														---	---	---	---
C15orf2	23742	broad.mit.edu	37	15	24921098	24921098	+	Silent	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:24921098G>A	uc001ywo.2	+	1	558	c.84G>A	c.(82-84)CTG>CTA	p.L28L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	28					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)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28467366	28467366	+	Intron	SNP	T	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28467366T>C	uc001zbj.2	-							NM_004667	NP_004658			hect domain and RLD 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
MEGF11	84465	broad.mit.edu	37	15	66191074	66191074	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:66191074T>C	uc002apm.2	-	22	3107	c.2966A>G	c.(2965-2967)TAT>TGT	p.Y989C	MEGF11_uc002apl.2_Missense_Mutation_p.Y914C|MEGF11_uc002apn.1_Missense_Mutation_p.Y989C	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11 precursor	989						basolateral plasma membrane|integral to membrane				pancreas(1)	1																		---	---	---	---
PTPN9	5780	broad.mit.edu	37	15	75815451	75815451	+	Intron	SNP	T	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75815451T>C	uc002bal.2	-							NM_002833	NP_002824			protein tyrosine phosphatase, non-receptor type							cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2																		---	---	---	---
NR2F2	7026	broad.mit.edu	37	15	96877403	96877403	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:96877403T>C	uc010uri.1	+	2	1765	c.541T>C	c.(541-543)TAT>CAT	p.Y181H	NR2F2_uc002btp.2_Missense_Mutation_p.Y48H|NR2F2_uc010urj.1_Missense_Mutation_p.Y28H|NR2F2_uc010urk.1_Missense_Mutation_p.Y28H	NM_021005	NP_066285	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	181	Interaction with ZFPM2 (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(1)	3	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)															---	---	---	---
CLCN7	1186	broad.mit.edu	37	16	1505133	1505133	+	Splice_Site	SNP	A	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1505133A>G	uc002clv.2	-	12	1208	c.1098_splice	c.e12+1	p.E366_splice	CLCN7_uc002clw.2_Splice_Site_p.E342_splice	NM_001287	NP_001278			chloride channel 7 isoform a							integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)																---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30364821	30364821	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30364821C>T	uc002dxr.2	-	4	929	c.676G>A	c.(676-678)GCT>ACT	p.A226T	CD2BP2_uc002dxs.2_Missense_Mutation_p.A226T	NM_006110	NP_006101	O95400	CD2B2_HUMAN	CD2 antigen (cytoplasmic tail) binding protein	226					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			ovary(1)	1																		---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76569621	76569621	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:76569621C>T	uc002feu.1	+	20	3320	c.2935C>T	c.(2935-2937)CCC>TCC	p.P979S	CNTNAP4_uc002fev.1_Missense_Mutation_p.P843S|CNTNAP4_uc010chb.1_Missense_Mutation_p.P906S|CNTNAP4_uc002fex.1_Missense_Mutation_p.P982S	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	979	Extracellular (Potential).|EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579368	7579368	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7579368A>C	uc002gim.2	-	4	513	c.319T>G	c.(319-321)TAC>GAC	p.Y107D	TP53_uc002gig.1_Missense_Mutation_p.Y107D|TP53_uc002gih.2_Missense_Mutation_p.Y107D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.Y107D|TP53_uc010cni.1_Missense_Mutation_p.Y107D|TP53_uc002gij.2_Missense_Mutation_p.Y107D|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.Y68D|TP53_uc010cnk.1_Missense_Mutation_p.Y122D	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	107	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in a sporadic cancer; somatic mutation).|Y -> H (in a sporadic cancer; 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.0?(7)|p.Y107*(6)|p.Y107Y(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.Y107Q(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.Y107D(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107C(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)			---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8415782	8415782	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8415782T>G	uc002gll.2	-	22	2942	c.2846A>C	c.(2845-2847)CAA>CCA	p.Q949P	MYH10_uc002glm.2_Missense_Mutation_p.Q980P|MYH10_uc010cnx.2_Missense_Mutation_p.Q958P	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	949	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2																		---	---	---	---
SLC13A2	9058	broad.mit.edu	37	17	26816245	26816245	+	Missense_Mutation	SNP	C	T	T	rs78103056		TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26816245C>T	uc002hbh.2	+	2	183	c.116C>T	c.(115-117)GCG>GTG	p.A39V	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.1_5'UTR|SLC13A2_uc010wan.1_Missense_Mutation_p.A39V|SLC13A2_uc010wao.1_Intron|SLC13A2_uc002hbi.2_5'UTR	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	39						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)													---	---	---	---
ACACA	31	broad.mit.edu	37	17	35454770	35454770	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35454770T>C	uc002hnm.2	-	53	6795	c.6604A>G	c.(6604-6606)ATT>GTT	p.I2202V	ACACA_uc002hnk.2_Missense_Mutation_p.I2124V|ACACA_uc002hnl.2_Missense_Mutation_p.I2144V|ACACA_uc002hnn.2_Missense_Mutation_p.I2202V|ACACA_uc002hno.2_Missense_Mutation_p.I2239V|ACACA_uc010cuy.2_Missense_Mutation_p.I847V|ACACA_uc010wdb.1_Missense_Mutation_p.I240V|ACACA_uc010wdc.1_Missense_Mutation_p.I328V	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	2202					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)													---	---	---	---
KRT33B	3884	broad.mit.edu	37	17	39525885	39525885	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39525885T>A	uc002hwl.2	-	1	163	c.118A>T	c.(118-120)AAT>TAT	p.N40Y		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	40	Head.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)																---	---	---	---
PLCD3	113026	broad.mit.edu	37	17	43197709	43197709	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43197709C>T	uc002iib.2	-	4	781	c.667G>A	c.(667-669)GCC>ACC	p.A223T		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	223	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
DDX5	1655	broad.mit.edu	37	17	62500356	62500356	+	Nonsense_Mutation	SNP	A	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62500356A>C	uc002jek.2	-	3	538	c.291T>G	c.(289-291)TAT>TAG	p.Y97*	CCDC45_uc002jem.2_5'Flank|CCDC45_uc002jen.2_5'Flank|CCDC45_uc010wqb.1_5'Flank|DDX5_uc010deh.2_Nonsense_Mutation_p.Y97*|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Intron|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	97	Q motif.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)					T	ETV4	prostate								---	---	---	---
SOCS3	9021	broad.mit.edu	37	17	76354533	76354533	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76354533C>A	uc002jvl.2	-	2	1060	c.644G>T	c.(643-645)CGG>CTG	p.R215L		NM_003955	NP_003946	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	215	SOCS box.				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)															---	---	---	---
SOCS3	9021	broad.mit.edu	37	17	76354534	76354534	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76354534G>A	uc002jvl.2	-	2	1059	c.643C>T	c.(643-645)CGG>TGG	p.R215W		NM_003955	NP_003946	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	215	SOCS box.				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)															---	---	---	---
USP36	57602	broad.mit.edu	37	17	76803161	76803161	+	Silent	SNP	T	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76803161T>C	uc002jvz.1	-	14	2290	c.1965A>G	c.(1963-1965)CCA>CCG	p.P655P	USP36_uc002jwa.1_Silent_p.P655P|USP36_uc002jwb.1_Silent_p.P292P|USP36_uc002jwc.1_Silent_p.P355P	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	655					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)															---	---	---	---
CANT1	124583	broad.mit.edu	37	17	76989930	76989930	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76989930C>G	uc002jwn.2	-	6	1347	c.908G>C	c.(907-909)AGC>ACC	p.S303T	CANT1_uc002jwk.2_Missense_Mutation_p.S303T|CANT1_uc002jwj.2_Missense_Mutation_p.S303T|CANT1_uc002jwl.2_Intron|CANT1_uc002jwm.1_RNA	NM_001159772	NP_001153244	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	303	Lumenal (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity				0			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)					T	ETV4	prostate								---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78355337	78355337	+	Intron	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78355337G>C	uc002jyh.1	+						uc002jyi.1_Intron|RNF213_uc010dhw.1_Intron	NM_020914	NP_065965			ring finger protein 213											ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
C18orf34	374864	broad.mit.edu	37	18	30847250	30847250	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:30847250C>A	uc002kxn.2	-	12	1330	c.1188G>T	c.(1186-1188)TTG>TTT	p.L396F	C18orf34_uc010dme.1_5'Flank|C18orf34_uc010xbr.1_Missense_Mutation_p.L396F|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.L396F|C18orf34_uc002kxp.2_Missense_Mutation_p.L396F	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	396	Potential.									ovary(1)	1																		---	---	---	---
C18orf54	162681	broad.mit.edu	37	18	51904563	51904563	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51904563C>T	uc002lfn.3	+	8	1182	c.1066C>T	c.(1066-1068)CGC>TGC	p.R356C	C18orf54_uc002lfo.3_Missense_Mutation_p.R517C	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	356						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)														---	---	---	---
NFATC1	4772	broad.mit.edu	37	18	77170085	77170085	+	Intron	SNP	T	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77170085T>C	uc010xfg.1	+						NFATC1_uc002lnc.1_Intron|NFATC1_uc010xff.1_Intron|NFATC1_uc002lnd.2_Intron|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfi.1_Intron|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Intron|NFATC1_uc002lng.2_Intron|NFATC1_uc010xfk.1_Intron	NM_006162	NP_006153			nuclear factor of activated T-cells, cytosolic						intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)														---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8140221	8140221	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8140221G>A	uc002mjf.2	-	59	7549	c.7528C>T	c.(7528-7530)CGC>TGC	p.R2510C	FBN3_uc002mje.2_Intron	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2510	EGF-like 41; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11																		---	---	---	---
WIZ	58525	broad.mit.edu	37	19	15538061	15538061	+	Silent	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15538061G>A	uc002nbc.2	-	4	1358	c.1335C>T	c.(1333-1335)CCC>CCT	p.P445P	WIZ_uc002nba.3_Silent_p.P312P|WIZ_uc002nbb.3_Silent_p.P271P	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1128	Pro-rich.					nucleus	zinc ion binding				0																		---	---	---	---
PIK3R2	5296	broad.mit.edu	37	19	18273284	18273284	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18273284C>G	uc002nia.1	+	9	1589	c.1077C>G	c.(1075-1077)AGC>AGG	p.S359R	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	359	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6																		---	---	---	---
CLIP3	25999	broad.mit.edu	37	19	36515332	36515332	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36515332C>T	uc010eeq.1	-	6	1166	c.884G>A	c.(883-885)CGC>CAC	p.R295H	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.R295H	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	295					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
KCNK6	9424	broad.mit.edu	37	19	38817329	38817329	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38817329C>T	uc002oic.2	+	2	529	c.419C>T	c.(418-420)GCC>GTC	p.A140V	KCNK6_uc002oid.2_Missense_Mutation_p.A6V	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	140	Helical; (Potential).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)	1	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)													---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41077990	41077990	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41077990G>T	uc002ony.2	+	34	7471	c.7385G>T	c.(7384-7386)GGC>GTC	p.G2462V	SPTBN4_uc002onz.2_Missense_Mutation_p.G2462V|SPTBN4_uc010egx.2_Missense_Mutation_p.G1205V	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	2462	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)															---	---	---	---
CPT1C	126129	broad.mit.edu	37	19	50203937	50203937	+	Intron	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50203937G>A	uc002ppj.2	+						CPT1C_uc002ppl.3_Intron|CPT1C_uc002ppi.2_Intron|CPT1C_uc002ppk.2_Intron|CPT1C_uc010eng.2_Intron|CPT1C_uc010enh.2_Intron|CPT1C_uc010ybc.1_Intron	NM_152359	NP_689572			carnitine palmitoyltransferase 1C isoform 2						fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)														---	---	---	---
GPR32	2854	broad.mit.edu	37	19	51274341	51274341	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51274341G>C	uc010ycf.1	+	1	484	c.484G>C	c.(484-486)GCC>CCC	p.A162P		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	162	Helical; Name=4; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)														---	---	---	---
ZNF175	7728	broad.mit.edu	37	19	52091638	52091638	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52091638A>G	uc002pxb.2	+	5	2432	c.2054A>G	c.(2053-2055)AAC>AGC	p.N685S	uc002pxc.1_5'Flank	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	zinc finger protein 175	685	C2H2-type 15.				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)														---	---	---	---
AVP	551	broad.mit.edu	37	20	3065247	3065247	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3065247C>T	uc002whu.2	-	1	124	c.74G>A	c.(73-75)TGC>TAC	p.C25Y		NM_000490	NP_000481	P01185	NEU2_HUMAN	arginine vasopressin-neurophysin II	25					cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding				0				COAD - Colon adenocarcinoma(99;0.00643)														---	---	---	---
C20orf4	25980	broad.mit.edu	37	20	34832803	34832803	+	Silent	SNP	C	T	T			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34832803C>T	uc002xfc.1	+	3	1035	c.942C>T	c.(940-942)TTC>TTT	p.F314F	C20orf4_uc002xfd.1_Silent_p.F314F|C20orf4_uc002xfe.1_Silent_p.F314F	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	314											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)																---	---	---	---
RTEL1	51750	broad.mit.edu	37	20	62317132	62317132	+	Intron	SNP	T	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62317132T>G	uc002yfu.1	+						RTEL1_uc011abc.1_Intron|RTEL1_uc002yft.1_Intron|RTEL1_uc011abd.1_Intron|RTEL1_uc011abe.1_Intron|RTEL1_uc002yfw.2_Intron	NM_016434	NP_057518			regulator of telomere elongation helicase 1						DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)															---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10907025	10907025	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:10907025T>G	uc002yip.1	-	24	1904	c.1536A>C	c.(1534-1536)AAA>AAC	p.K512N	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.K494N|TPTE_uc002yir.1_Missense_Mutation_p.K474N|TPTE_uc010gkv.1_Missense_Mutation_p.K374N	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	512	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)														---	---	---	---
ADAMTS1	9510	broad.mit.edu	37	21	28212246	28212246	+	Silent	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:28212246G>C	uc002ymf.2	-	6	2255	c.1800C>G	c.(1798-1800)GGC>GGG	p.G600G		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	600	TSP type-1 1.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)														---	---	---	---
AIRE	326	broad.mit.edu	37	21	45710762	45710762	+	Intron	SNP	G	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45710762G>C	uc002zei.2	+						AIRE_uc010gpq.2_RNA|AIRE_uc002zej.2_Missense_Mutation_p.G25R|AIRE_uc010gpr.2_Missense_Mutation_p.G25R	NM_000383	NP_000374			autoimmune regulator isoform 1						positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			skin(1)	1				Colorectal(79;0.0806)										Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy				---	---	---	---
USP51	158880	broad.mit.edu	37	X	55515195	55515195	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:55515195G>A	uc004dun.1	-	2	257	c.178C>T	c.(178-180)CCA>TCA	p.P60S	USP51_uc011moo.1_Missense_Mutation_p.P5S	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	60					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3																		---	---	---	---
POF1B	79983	broad.mit.edu	37	X	84586035	84586035	+	Silent	SNP	T	G	G			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:84586035T>G	uc004eer.2	-	7	920	c.774A>C	c.(772-774)GGA>GGC	p.G258G	POF1B_uc004ees.2_Silent_p.G258G	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	258							actin binding				0																		---	---	---	---
FRMD7	90167	broad.mit.edu	37	X	131212239	131212239	+	Silent	SNP	A	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:131212239A>C	uc004ewn.2	-	12	1984	c.1806T>G	c.(1804-1806)CCT>CCG	p.P602P	FRMD7_uc011muy.1_Silent_p.P587P	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	602					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
USP26	83844	broad.mit.edu	37	X	132161820	132161820	+	Silent	SNP	A	C	C			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:132161820A>C	uc010nrm.1	-	6	899	c.429T>G	c.(427-429)TCT>TCG	p.S143S	USP26_uc011mvf.1_Silent_p.S143S	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	143					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153594681	153594681	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6565-01	TCGA-BR-6565-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153594681G>A	uc004fkk.2	-	8	1472	c.1223C>T	c.(1222-1224)ACG>ATG	p.T408M	FLNA_uc010nuu.1_Missense_Mutation_p.T408M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	408	Filamin 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
