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
RNF220	55182	broad.mit.edu	37	1	45088632	45088633	+	Intron	DEL	GT	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45088632_45088633delGT	uc001clv.1	+						RNF220_uc001clw.1_Intron|RNF220_uc010okx.1_Intron|RNF220_uc010oky.1_Intron	NM_018150	NP_060620			ring finger protein 220						protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
RTCD1	8634	broad.mit.edu	37	1	100733959	100733960	+	Intron	INS	-	T	T	rs146892533		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100733959_100733960insT	uc001dtc.2	+						RTCD1_uc010ouh.1_Intron|RTCD1_uc001dtd.2_Intron	NM_003729	NP_003720			RNA terminal phosphate cyclase domain 1 isoform						RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)														---	---	---	---
DPT	1805	broad.mit.edu	37	1	168694492	168694492	+	Intron	DEL	T	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168694492delT	uc001gfp.2	-							NM_001937	NP_001928			dermatopontin precursor						cell adhesion	extracellular space|proteinaceous extracellular matrix				ovary(1)	1	all_hematologic(923;0.208)																	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11776864	11776869	+	Intron	DEL	GGGCAT	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11776864_11776869delGGGCAT	uc002rbk.1	+						GREB1_uc002rbp.1_Intron	NM_014668	NP_055483			growth regulation by estrogen in breast cancer 1							integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)														---	---	---	---
Unknown	0	broad.mit.edu	37	2	232337707	232337709	+	IGR	DEL	GAA	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:232337707_232337709delGAA								NCL (8502 upstream) : C2orf52 (35428 downstream)																																			---	---	---	---
PCNP	57092	broad.mit.edu	37	3	101299032	101299034	+	Intron	DEL	AAT	-	-	rs71625586		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101299032_101299034delAAT	uc003dva.2	+						PCNP_uc003dvb.2_Intron|PCNP_uc003dvc.2_Intron|PCNP_uc003dvd.2_Intron	NM_020357	NP_065090			PEST proteolytic signal containing nuclear						cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding				0																		---	---	---	---
HERC3	8916	broad.mit.edu	37	4	89619053	89619053	+	Intron	DEL	C	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89619053delC	uc003hrw.1	+						HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron|NAP1L5_uc003hrx.2_5'Flank	NM_014606	NP_055421			hect domain and RLD 3						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)														---	---	---	---
GCM2	9247	broad.mit.edu	37	6	10881788	10881805	+	Intron	DEL	TGTGTGTGTGTGTGTGTG	-	-	rs35911329		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10881788_10881805delTGTGTGTGTGTGTGTGTG	uc003mzn.3	-						SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743			glial cells missing homolog 2						cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)																---	---	---	---
Unknown	0	broad.mit.edu	37	6	22831519	22831522	+	IGR	DEL	TCCT	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:22831519_22831522delTCCT								HDGFL1 (260770 upstream) : None (None downstream)																																			---	---	---	---
RDBP	7936	broad.mit.edu	37	6	31923225	31923225	+	Intron	DEL	A	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31923225delA	uc003nyk.2	-						RDBP_uc011dot.1_Intron|RDBP_uc003nyl.1_Intron|RDBP_uc003nym.1_Intron	NM_002904	NP_002895			RD RNA-binding protein						positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding				0																		---	---	---	---
C6orf153	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	-	-	rs3833662		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42989414_42989419delGCCGGG	uc003otp.1	+	1	30_35	c.22_27delGCCGGG	c.(22-27)GCCGGGdel	p.AG14del		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	hypothetical protein LOC88745	14_15					ribosomal small subunit biogenesis|rRNA processing	nucleolus					0			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)															---	---	---	---
MUT	4594	broad.mit.edu	37	6	49408202	49408202	+	Intron	DEL	T	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49408202delT	uc003ozg.3	-							NM_000255	NP_000246			methylmalonyl Coenzyme A mutase precursor						fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---
MLXIPL	51085	broad.mit.edu	37	7	73038473	73038473	+	Intron	DEL	C	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73038473delC	uc003tyn.1	-						MLXIPL_uc003tyk.1_Intron|MLXIPL_uc003tyl.1_Intron|MLXIPL_uc003tym.1_Intron|MLXIPL_uc003tyo.1_Intron|MLXIPL_uc003typ.1_Intron	NM_032951	NP_116569			Williams Beuren syndrome chromosome region 14						anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)																---	---	---	---
Unknown	0	broad.mit.edu	37	8	101908414	101908414	+	IGR	DEL	A	-	-	rs112706717		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101908414delA								PABPC1 (174099 upstream) : YWHAZ (22390 downstream)																																			---	---	---	---
RECK	8434	broad.mit.edu	37	9	36123173	36123173	+	3'UTR	DEL	T	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:36123173delT	uc003zyv.2	+	21					RECK_uc003zyw.2_3'UTR|RECK_uc003zyx.2_RNA	NM_021111	NP_066934			RECK protein precursor							anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)															---	---	---	---
C9orf102	375748	broad.mit.edu	37	9	98669621	98669621	+	Intron	DEL	T	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98669621delT	uc004avt.3	+						C9orf102_uc010mrx.1_Intron|C9orf102_uc011lum.1_Intron|C9orf102_uc010mry.1_Intron|C9orf102_uc010mrz.2_Intron	NM_001010895	NP_001010895			RAD26L hypothetical protein						DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
Unknown	0	broad.mit.edu	37	10	94985788	94985789	+	IGR	INS	-	T	T	rs140557797	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94985788_94985789insT								CYP26A1 (148147 upstream) : MYOF (80398 downstream)																																			---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105159983	105159984	+	Intron	INS	-	T	T	rs59450233		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105159983_105159984insT	uc001kwy.1	+							NM_014976	NP_055791			programmed cell death 11						mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)														---	---	---	---
Unknown	0	broad.mit.edu	37	10	134206019	134206020	+	IGR	INS	-	G	G	rs142843997		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134206019_134206020insG								LRRC27 (11009 upstream) : PWWP2B (4682 downstream)																																			---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17452095	17452095	+	Intron	DEL	T	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17452095delT	uc001mnc.2	-							NM_000352	NP_000343			ATP-binding cassette, sub-family C, member 8						carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)													---	---	---	---
SPRYD5	84767	broad.mit.edu	37	11	55656215	55656216	+	Intron	INS	-	CCTC	CCTC			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55656215_55656216insCCTC	uc010rip.1	+						SPRYD5_uc010riq.1_Intron	NM_032681	NP_116070			SPRY domain containing 5							intracellular	zinc ion binding				0		all_epithelial(135;0.226)																---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54967640	54967641	+	Intron	INS	-	GAGA	GAGA	rs142403478	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54967640_54967641insGAGA	uc001sgd.1	+						PDE1B_uc010soz.1_Intron|PDE1B_uc010spa.1_Intron|PDE1B_uc001sgf.2_Intron|PDE1B_uc001sge.2_Intron|PDE1B_uc009znq.2_Intron	NM_000924	NP_000915			phosphodiesterase 1B isoform 1						activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
NAP1L1	4673	broad.mit.edu	37	12	76462515	76462516	+	Intron	INS	-	ACACAC	ACACAC	rs35120003		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:76462515_76462516insACACAC	uc001sxw.2	-						NAP1L1_uc001sxv.2_Intron|NAP1L1_uc001sxz.2_Intron|NAP1L1_uc001sxx.2_Intron|NAP1L1_uc001sxy.2_Intron|NAP1L1_uc010sty.1_Intron|NAP1L1_uc010stz.1_Intron|NAP1L1_uc010sua.1_Intron|NAP1L1_uc001syb.2_Intron|NAP1L1_uc001sya.2_Intron|NAP1L1_uc001syc.2_Intron	NM_139207	NP_631946			nucleosome assembly protein 1-like 1						DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			ovary(1)|skin(1)	2		Colorectal(145;0.09)																---	---	---	---
IFT81	28981	broad.mit.edu	37	12	110566615	110566616	+	Intron	DEL	AG	-	-	rs59756924		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110566615_110566616delAG	uc001tqi.2	+						IFT81_uc001tqh.2_Intron|IFT81_uc001tqj.2_Intron|IFT81_uc001tqg.2_Intron	NM_001143779	NP_001137251			intraflagellar transport 81-like isoform 1						cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1																		---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117965106	117965107	+	Intron	DEL	AG	-	-	rs68177299		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117965106_117965107delAG	uc001two.2	-							NM_173598	NP_775869			kinase suppressor of ras 2						intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
MED6	10001	broad.mit.edu	37	14	71067484	71067504	+	5'Flank	DEL	GGCAGGAGAGAGGCAGGGGGT	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71067484_71067504delGGCAGGAGAGAGGCAGGGGGT	uc001xmf.2	-						MED6_uc010tth.1_5'Flank|MED6_uc010tti.1_5'Flank|MED6_uc001xmg.1_5'Flank|MED6_uc010ttj.1_5'Flank	NM_005466	NP_005457			mediator of RNA polymerase II transcription,						positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity				0				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)														---	---	---	---
Unknown	0	broad.mit.edu	37	15	20279249	20279256	+	IGR	DEL	GCTGTCGG	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:20279249_20279256delGCTGTCGG								None (None upstream) : GOLGA6L6 (457838 downstream)																																			---	---	---	---
COG7	91949	broad.mit.edu	37	16	23456979	23456980	+	Intron	INS	-	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23456979_23456980insA	uc002dlo.2	-							NM_153603	NP_705831			component of oligomeric golgi complex 7						intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)														---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29891490	29891491	+	Intron	INS	-	T	T	rs71373211		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29891490_29891491insT	uc002duq.3	-						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Intron|SEZ6L2_uc002dur.3_Intron|SEZ6L2_uc002dus.3_Intron|SEZ6L2_uc010vec.1_Intron|SEZ6L2_uc010ved.1_Intron	NM_201575	NP_963869			seizure related 6 homolog (mouse)-like 2 isoform							endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2																		---	---	---	---
RAB11FIP4	84440	broad.mit.edu	37	17	29848449	29848450	+	Intron	INS	-	G	G	rs2301684	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29848449_29848450insG	uc002hgn.1	+						RAB11FIP4_uc002hgo.2_Intron	NM_032932	NP_116321			RAB11 family interacting protein 4 (class II)						cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			skin(1)	1		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)																---	---	---	---
MED16	10025	broad.mit.edu	37	19	878917	878922	+	Intron	DEL	GCCCCG	-	-	rs72321813		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:878917_878922delGCCCCG	uc002lqd.1	-						MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Intron|MED16_uc002lqf.2_Intron|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron	NM_005481	NP_005472			mediator complex subunit 16						androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
SIRT6	51548	broad.mit.edu	37	19	4174643	4174643	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4174643delT	uc002lzo.2	-	8	1099	c.1039delA	c.(1039-1041)AGGfs	p.R347fs	SIRT6_uc002lzn.2_3'UTR|SIRT6_uc002lzp.2_3'UTR|SIRT6_uc010xid.1_Frame_Shift_Del_p.R275fs|SIRT6_uc002lzq.2_Frame_Shift_Del_p.R320fs|SIRT6_uc002lzr.2_Frame_Shift_Del_p.R248fs	NM_016539	NP_057623	Q8N6T7	SIRT6_HUMAN	sirtuin 6	347					chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
SLC25A41	284427	broad.mit.edu	37	19	6426272	6426277	+	3'UTR	DEL	CAGCCT	-	-	rs140041202		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6426272_6426277delCAGCCT	uc010dus.2	-	7					KHSRP_uc002mer.3_5'Flank|SLC25A41_uc010dut.2_3'UTR	NM_173637	NP_775908			solute carrier family 25, member 41						transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0																		---	---	---	---
C19orf66	55337	broad.mit.edu	37	19	10197480	10197480	+	Intron	DEL	G	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10197480delG	uc002mmu.3	+						C19orf66_uc002mmt.2_Intron|C19orf66_uc002mmv.3_Intron|C19orf66_uc002mmw.3_5'Flank	NM_018381	NP_060851			hypothetical protein LOC55337												0																		---	---	---	---
ZNF98	148198	broad.mit.edu	37	19	22583906	22583906	+	Intron	DEL	A	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22583906delA	uc002nqt.2	-							NM_001098626	NP_001092096			zinc finger protein 98						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)																---	---	---	---
EML2	24139	broad.mit.edu	37	19	46125009	46125009	+	Intron	DEL	T	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46125009delT	uc002pcn.2	-						EML2_uc002pco.2_Intron|EML2_uc002pcp.2_Intron|EML2_uc010xxl.1_Intron|EML2_uc010xxm.1_Intron|EML2_uc010xxn.1_Intron|EML2_uc010xxo.1_Intron|EML2_uc010ekj.2_Intron	NM_012155	NP_036287			echinoderm microtubule associated protein like						sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)														---	---	---	---
ZNF765	91661	broad.mit.edu	37	19	53916792	53916793	+	Intron	INS	-	A	A	rs143686963	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53916792_53916793insA	uc002qbn.2	+											Homo sapiens cDNA FLJ50389 complete cds, moderately similar to Zinc finger protein 611.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)														---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60904422	60904426	+	Intron	DEL	CAGCC	-	-	rs3065756		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60904422_60904426delCAGCC	uc002ycq.2	-							NM_005560	NP_005551			laminin alpha 5 precursor						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
GART	2618	broad.mit.edu	37	21	34903299	34903299	+	Intron	DEL	T	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34903299delT	uc002yrx.2	-						GART_uc002yrz.2_Intron|GART_uc010gmd.2_Intron|GART_uc002yry.2_Intron|GART_uc002ysa.2_Intron	NM_000819	NP_000810			phosphoribosylglycinamide formyltransferase,						'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)													---	---	---	---
CXorf56	63932	broad.mit.edu	37	X	118694020	118694020	+	Intron	DEL	A	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118694020delA	uc004erk.1	-						CXorf56_uc004erj.1_Intron|CXorf56_uc011mtu.1_Intron	NM_022101	NP_071384			hypothetical protein LOC63932								protein binding				0																		---	---	---	---
ZNF275	10838	broad.mit.edu	37	X	152611191	152611229	+	Intron	DEL	GGGGTCCCAGCTGAGCTCTTGGAGTTGAGGTTAGGGTTT	-	-	rs78085283	by1000genomes;by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152611191_152611229delGGGGTCCCAGCTGAGCTCTTGGAGTTGAGGTTAGGGTTT	uc004fhg.1	+						ZNF275_uc011mym.1_Intron|ZNF275_uc011myn.1_Intron					SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;							intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
PADI6	353238	broad.mit.edu	37	1	17723476	17723477	+	Intron	INS	-	CA	CA	rs144056968	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17723476_17723477insCA	uc001bak.1	+							NM_207421	NP_997304			peptidylarginine deiminase type 6						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)													---	---	---	---
RPL11	6135	broad.mit.edu	37	1	24019391	24019391	+	Intron	DEL	T	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24019391delT	uc001bhk.2	+						RPL11_uc001bhl.2_Intron|RPL11_uc001bhm.2_Intron|RPL11_uc001bhn.1_Intron	NM_000975	NP_000966			ribosomal protein L11						endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)														---	---	---	---
ANP32E	81611	broad.mit.edu	37	1	150199259	150199259	+	Intron	DEL	T	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150199259delT	uc001etw.2	-						ANP32E_uc010pbt.1_5'Flank|ANP32E_uc010pbu.1_Intron|ANP32E_uc010pbv.1_Intron|ANP32E_uc001etv.3_Intron|ANP32E_uc010pbw.1_Intron	NM_030920	NP_112182			acidic (leucine-rich) nuclear phosphoprotein 32							cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity				0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
DPT	1805	broad.mit.edu	37	1	168694492	168694492	+	Intron	DEL	T	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168694492delT	uc001gfp.2	-							NM_001937	NP_001928			dermatopontin precursor						cell adhesion	extracellular space|proteinaceous extracellular matrix				ovary(1)	1	all_hematologic(923;0.208)																	---	---	---	---
CAPN13	92291	broad.mit.edu	37	2	30999024	30999024	+	Intron	DEL	T	-	-	rs11318503		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:30999024delT	uc002rnn.2	-						CAPN13_uc002rnp.1_Intron	NM_144575	NP_653176			calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
LONRF2	164832	broad.mit.edu	37	2	100916481	100916482	+	Intron	INS	-	GG	GG	rs139033934	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:100916481_100916482insGG	uc002tal.3	-						LONRF2_uc010yvs.1_Intron	NM_198461	NP_940863			LON peptidase N-terminal domain and ring finger						proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2																		---	---	---	---
BARD1	580	broad.mit.edu	37	2	215657183	215657184	+	Intron	DEL	AA	-	-	rs71399150		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215657183_215657184delAA	uc002veu.2	-						BARD1_uc010zjm.1_Intron	NM_000465	NP_000456			BRCA1 associated RING domain 1						cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)										Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220330663	220330674	+	Intron	DEL	GTGTGCGTGCAT	-	-	rs148714215	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220330663_220330674delGTGTGCGTGCAT	uc010fwg.2	+						SPEG_uc002vlm.2_Intron|SPEG_uc010fwh.1_Intron|SPEG_uc002vln.1_3'UTR|SPEG_uc002vlp.1_3'UTR|SPEG_uc002vlq.2_Intron	NM_005876	NP_005867			SPEG complex locus						muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)														---	---	---	---
Unknown	0	broad.mit.edu	37	2	232337707	232337709	+	IGR	DEL	GAA	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:232337707_232337709delGAA								NCL (8502 upstream) : C2orf52 (35428 downstream)																																			---	---	---	---
FAM194A	131831	broad.mit.edu	37	3	150421899	150421900	+	5'Flank	INS	-	C	C	rs148177227	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150421899_150421900insC	uc003eyg.2	-						FAM194A_uc003eyh.2_5'Flank	NM_152394	NP_689607			hypothetical protein LOC131831											skin(2)|ovary(1)	3																		---	---	---	---
TTC1	7265	broad.mit.edu	37	5	159477984	159477985	+	Intron	INS	-	T	T	rs11415993		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:159477984_159477985insT	uc003lxu.2	+							NM_003314	NP_003305			tetratricopeptide repeat domain 1						protein folding		unfolded protein binding			skin(1)	1	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)														---	---	---	---
GCM2	9247	broad.mit.edu	37	6	10881788	10881805	+	Intron	DEL	TGTGTGTGTGTGTGTGTG	-	-	rs35911329		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10881788_10881805delTGTGTGTGTGTGTGTGTG	uc003mzn.3	-						SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743			glial cells missing homolog 2						cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)																---	---	---	---
Unknown	0	broad.mit.edu	37	6	22831519	22831522	+	IGR	DEL	TCCT	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:22831519_22831522delTCCT								HDGFL1 (260770 upstream) : None (None downstream)																																			---	---	---	---
RDBP	7936	broad.mit.edu	37	6	31923225	31923225	+	Intron	DEL	A	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31923225delA	uc003nyk.2	-						RDBP_uc011dot.1_Intron|RDBP_uc003nyl.1_Intron|RDBP_uc003nym.1_Intron	NM_002904	NP_002895			RD RNA-binding protein						positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding				0																		---	---	---	---
C6orf106	64771	broad.mit.edu	37	6	34614822	34614823	+	Intron	INS	-	ACA	ACA	rs145923035	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34614822_34614823insACA	uc003ojr.2	-						C6orf106_uc003ojs.2_Intron	NM_024294	NP_077270			chromosome 6 open reading frame 106 isoform a											skin(2)|ovary(1)	3																		---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21905938	21905939	+	Intron	INS	-	A	A	rs35623271		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21905938_21905939insA	uc003svc.2	+							NM_003777	NP_003768			dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---
Unknown	0	broad.mit.edu	37	8	55243464	55243464	+	IGR	DEL	A	-	-	rs35886430		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55243464delA								MRPL15 (182390 upstream) : SOX17 (127031 downstream)																																			---	---	---	---
TMEM55A	55529	broad.mit.edu	37	8	92052646	92052647	+	Intron	INS	-	CAC	CAC	rs139914574	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:92052646_92052647insCAC	uc003yes.2	-							NM_018710	NP_061180			transmembrane protein 55A							integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0			BRCA - Breast invasive adenocarcinoma(11;0.033)															---	---	---	---
C9orf102	375748	broad.mit.edu	37	9	98669621	98669621	+	Intron	DEL	T	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98669621delT	uc004avt.3	+						C9orf102_uc010mrx.1_Intron|C9orf102_uc011lum.1_Intron|C9orf102_uc010mry.1_Intron|C9orf102_uc010mrz.2_Intron	NM_001010895	NP_001010895			RAD26L hypothetical protein						DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
C9orf119	375757	broad.mit.edu	37	9	131046568	131046568	+	Intron	DEL	A	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131046568delA	uc004bup.2	+						C9orf119_uc010mxx.1_Intron	NM_001040011	NP_001035100			hypothetical protein LOC375757						double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0																		---	---	---	---
CEL	1056	broad.mit.edu	37	9	135946987	135946988	+	Frame_Shift_Ins	INS	-	C	C			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135946987_135946988insC	uc010naa.1	+	11	2123_2124	c.2107_2108insC	c.(2107-2109)GCCfs	p.A703fs		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	700	13.|17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)														---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16990711	16990716	+	Intron	DEL	GAAGAA	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16990711_16990716delGAAGAA	uc001ioo.2	-							NM_001081	NP_001072			cubilin precursor						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102275671	102275672	+	Intron	INS	-	G	G	rs143845466	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102275671_102275672insG	uc001krc.1	-						SEC31B_uc010qpo.1_Intron|SEC31B_uc001krd.1_Intron|SEC31B_uc001krf.1_Intron|SEC31B_uc001kre.1_Intron|SEC31B_uc010qpp.1_Intron|SEC31B_uc009xwn.1_Intron|SEC31B_uc009xwo.1_Intron|SEC31B_uc010qpq.1_Intron|SEC31B_uc010qpr.1_Intron	NM_015490	NP_056305			SEC31 homolog B						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)														---	---	---	---
SPRYD5	84767	broad.mit.edu	37	11	55656215	55656216	+	Intron	INS	-	CCTC	CCTC			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55656215_55656216insCCTC	uc010rip.1	+						SPRYD5_uc010riq.1_Intron	NM_032681	NP_116070			SPRY domain containing 5							intracellular	zinc ion binding				0		all_epithelial(135;0.226)																---	---	---	---
FOXN4	121643	broad.mit.edu	37	12	109723077	109723078	+	Intron	INS	-	GC	GC	rs34524845		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109723077_109723078insGC	uc001toe.3	-						FOXN4_uc009zvg.2_Intron|FOXN4_uc001tof.3_Intron	NM_213596	NP_998761			forkhead box N4						axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|lung(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	15	20508055	20508056	+	IGR	INS	-	GCCCT	GCCCT	rs138742206	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:20508055_20508056insGCCCT								None (None upstream) : GOLGA6L6 (229038 downstream)																																			---	---	---	---
PGPEP1L	145814	broad.mit.edu	37	15	99514424	99514430	+	Intron	DEL	GGGGGGG	-	-	rs74852431		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:99514424_99514430delGGGGGGG	uc002bum.2	-						PGPEP1L_uc010bop.2_Intron|PGPEP1L_uc002bun.2_Intron	NM_001102612	NP_001096082			pyroglutamyl-peptidase 1-like protein						proteolysis		cysteine-type peptidase activity				0																		---	---	---	---
DKFZP434H168	26077	broad.mit.edu	37	16	56226662	56226663	+	3'UTR	INS	-	CC	CC	rs60037687		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56226662_56226663insCC	uc002eiv.2	-	1					GNAO1_uc002eit.3_Intron|GNAO1_uc002eiu.3_Intron|LOC283856_uc002eis.1_5'Flank	NR_026889				Homo sapiens cDNA FLJ42135 fis, clone TESTI2035309.												0																		---	---	---	---
RAB11FIP4	84440	broad.mit.edu	37	17	29848449	29848450	+	Intron	INS	-	G	G	rs2301684	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29848449_29848450insG	uc002hgn.1	+						RAB11FIP4_uc002hgo.2_Intron	NM_032932	NP_116321			RAB11 family interacting protein 4 (class II)						cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			skin(1)	1		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)																---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340475	39340477	+	Splice_Site	DEL	TGC	-	-	rs145519739		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39340475_39340477delTGC	uc002hwe.3	-	2	613	c.572_splice	c.e2+1			NM_033060	NP_149049			keratin associated protein 4-1							keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)															---	---	---	---
BAHCC1	57597	broad.mit.edu	37	17	79425558	79425559	+	Intron	INS	-	CTCCCCCGCA	CTCCCCCGCA	rs148767323	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79425558_79425559insCTCCCCCGCA	uc002kaf.2	+						BAHCC1_uc002kae.2_Intron	NM_001080519	NP_001073988			BAH domain and coiled-coil containing 1								DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)															---	---	---	---
SPPL2B	56928	broad.mit.edu	37	19	2324113	2324114	+	Intron	INS	-	C	C	rs140121434	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2324113_2324114insC	uc010dsw.1	+						LSM7_uc002lvp.3_Intron					SubName: Full=Putative uncharacterized protein ENSP00000371624;							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
SIRT6	51548	broad.mit.edu	37	19	4174643	4174643	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4174643delT	uc002lzo.2	-	8	1099	c.1039delA	c.(1039-1041)AGGfs	p.R347fs	SIRT6_uc002lzn.2_3'UTR|SIRT6_uc002lzp.2_3'UTR|SIRT6_uc010xid.1_Frame_Shift_Del_p.R275fs|SIRT6_uc002lzq.2_Frame_Shift_Del_p.R320fs|SIRT6_uc002lzr.2_Frame_Shift_Del_p.R248fs	NM_016539	NP_057623	Q8N6T7	SIRT6_HUMAN	sirtuin 6	347					chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
SLC25A41	284427	broad.mit.edu	37	19	6426272	6426277	+	3'UTR	DEL	CAGCCT	-	-	rs140041202		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6426272_6426277delCAGCCT	uc010dus.2	-	7					KHSRP_uc002mer.3_5'Flank|SLC25A41_uc010dut.2_3'UTR	NM_173637	NP_775908			solute carrier family 25, member 41						transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0																		---	---	---	---
C19orf66	55337	broad.mit.edu	37	19	10197480	10197480	+	Intron	DEL	G	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10197480delG	uc002mmu.3	+						C19orf66_uc002mmt.2_Intron|C19orf66_uc002mmv.3_Intron|C19orf66_uc002mmw.3_5'Flank	NM_018381	NP_060851			hypothetical protein LOC55337												0																		---	---	---	---
KANK2	25959	broad.mit.edu	37	19	11288976	11288977	+	Intron	INS	-	G	G	rs139114831	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11288976_11288977insG	uc010dxv.2	-						KANK2_uc002mqm.2_Intron|KANK2_uc002mqo.3_Intron|KANK2_uc002mqp.1_Intron	NM_015493	NP_056308			ankyrin repeat domain 25 isoform 1												0																		---	---	---	---
ALDH16A1	126133	broad.mit.edu	37	19	49963971	49963972	+	Intron	INS	-	T	T	rs35639941		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49963971_49963972insT	uc002pnt.2	+						ALDH16A1_uc010yar.1_Intron|ALDH16A1_uc010yas.1_Intron|ALDH16A1_uc010yat.1_Intron	NM_153329	NP_699160			aldehyde dehydrogenase 16 family, member A1								oxidoreductase activity|protein binding			skin(1)	1		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)														---	---	---	---
C20orf96	140680	broad.mit.edu	37	20	259767	259770	+	Intron	DEL	GGTT	-	-	rs113750630		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:259767_259770delGGTT	uc002wde.1	-						C20orf96_uc002wdc.2_Intron|C20orf96_uc002wdd.2_Intron|C20orf96_uc010zpi.1_Intron|C20orf96_uc010zpj.1_Intron|C20orf96_uc010zpk.1_Intron	NM_153269	NP_695001			hypothetical protein LOC140680												0		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)															---	---	---	---
GART	2618	broad.mit.edu	37	21	34903299	34903299	+	Intron	DEL	T	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34903299delT	uc002yrx.2	-						GART_uc002yrz.2_Intron|GART_uc010gmd.2_Intron|GART_uc002yry.2_Intron|GART_uc002ysa.2_Intron	NM_000819	NP_000810			phosphoribosylglycinamide formyltransferase,						'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)													---	---	---	---
COL6A1	1291	broad.mit.edu	37	21	47419706	47419707	+	Intron	INS	-	G	G	rs149102148	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47419706_47419707insG	uc002zhu.1	+						COL6A1_uc010gqd.1_Intron|COL6A1_uc002zhv.1_5'Flank|COL6A1_uc002zhw.1_5'Flank	NM_001848	NP_001839			collagen, type VI, alpha 1 precursor						axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)													---	---	---	---
MED15	51586	broad.mit.edu	37	22	20929656	20929656	+	Intron	DEL	T	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20929656delT	uc002zsp.2	+						MED15_uc002zsq.2_Intron|MED15_uc010gso.2_Intron|MED15_uc002zsr.2_Intron|MED15_uc011ahs.1_Intron|MED15_uc002zss.2_Intron|MED15_uc011ahu.1_Intron|MED15_uc002zst.2_Intron	NM_001003891	NP_001003891			mediator complex subunit 15 isoform a						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)															---	---	---	---
MPPED1	758	broad.mit.edu	37	22	43895724	43895738	+	Intron	DEL	GGTGGTGATGGTGGA	-	-			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43895724_43895738delGGTGGTGATGGTGGA	uc011apv.1	+						MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Intron|MPPED1_uc011apz.1_Intron	NM_001044370	NP_001037835			metallophosphoesterase domain containing 1								hydrolase activity				0		all_neural(38;0.0244)|Ovarian(80;0.0694)																---	---	---	---
EGFL6	25975	broad.mit.edu	37	X	13618385	13618386	+	Intron	INS	-	TTCT	TTCT	rs71913558		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13618385_13618386insTTCT	uc004cvi.2	+						EGFL6_uc004cvj.2_Intron|EGFL6_uc011mik.1_Intron	NM_015507	NP_056322			epidermal growth factor-like protein 6						cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2																		---	---	---	---
PSD4	23550	broad.mit.edu	37	2	113955401	113955401	+	Silent	SNP	G	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113955401G>A	uc002tjc.2	+	14	2718	c.2535G>A	c.(2533-2535)TCG>TCA	p.S845S	PSD4_uc002tjd.2_Silent_p.S465S|PSD4_uc002tje.2_Silent_p.S815S|PSD4_uc002tjf.2_Silent_p.S466S|PSD4_uc002tjg.2_Silent_p.S11S|PSD4_uc010yxs.1_Silent_p.S75S|PSD4_uc002tjh.2_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	845	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
GPR155	151556	broad.mit.edu	37	2	175304637	175304637	+	Silent	SNP	G	C	C			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175304637G>C	uc002uit.2	-	16	2692	c.2301C>G	c.(2299-2301)GTC>GTG	p.V767V	GPR155_uc002uiu.2_Silent_p.V767V|GPR155_uc002uiv.2_Silent_p.V767V|GPR155_uc010fqs.2_Silent_p.V739V	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	767	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1																		---	---	---	---
SLC40A1	30061	broad.mit.edu	37	2	190426751	190426751	+	Silent	SNP	G	T	T			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190426751G>T	uc002uqp.3	-	8	1920	c.1569C>A	c.(1567-1569)CTC>CTA	p.L523L		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated	523	Helical; (Potential).				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)															---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140773225	140773225	+	Missense_Mutation	SNP	G	A	A	rs141295392	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140773225G>A	uc003lkd.1	+	1	1743	c.845G>A	c.(844-846)CGG>CAG	p.R282Q	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_uc003lkb.3_Missense_Mutation_p.R282Q	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	282	Cadherin 3.|Extracellular (Potential).				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)															---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89128953	89128953	+	Intron	SNP	G	C	C			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89128953G>C	uc003yeb.3	-						MMP16_uc003yec.2_Intron	NM_005941	NP_005932			matrix metalloproteinase 16 isoform 1						collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8																		---	---	---	---
AK3	50808	broad.mit.edu	37	9	4713048	4713048	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:4713048A>C	uc003ziq.1	-	5	752	c.612T>G	c.(610-612)ATT>ATG	p.I204M	AK3_uc003zip.1_RNA|AK3_uc011lma.1_Missense_Mutation_p.I164M|AK3_uc003zir.1_Missense_Mutation_p.I134M	NM_016282	NP_057366	Q9UIJ7	KAD3_HUMAN	adenylate kinase 3	204					blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity			ovary(2)	2	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)														---	---	---	---
LRRC8A	56262	broad.mit.edu	37	9	131670706	131670706	+	Silent	SNP	C	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131670706C>A	uc004bwl.3	+	3	1517	c.1263C>A	c.(1261-1263)ACC>ACA	p.T421T	LRRC8A_uc010myp.2_Silent_p.T421T|LRRC8A_uc010myq.2_Silent_p.T421T	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	421	LRR 2.				pre-B cell differentiation	integral to membrane					0																		---	---	---	---
MSRB2	22921	broad.mit.edu	37	10	23409793	23409793	+	3'UTR	SNP	C	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:23409793C>A	uc001iro.2	+	5						NM_012228	NP_036360			methionine sulfoxide reductase B2 precursor						protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0					L-Methionine(DB00134)													---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29759247	29759247	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29759247G>A	uc001iut.1	-	32	6554	c.5801C>T	c.(5800-5802)ACG>ATG	p.T1934M	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.T848M|SVIL_uc001iuu.1_Missense_Mutation_p.T1508M	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1934	Gelsolin-like 4.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)																---	---	---	---
DOCK1	1793	broad.mit.edu	37	10	128851029	128851029	+	Silent	SNP	G	T	T			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:128851029G>T	uc001ljt.2	+	22	2287	c.2223G>T	c.(2221-2223)GCG>GCT	p.A741A	DOCK1_uc010qun.1_Silent_p.A762A	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	741					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)														---	---	---	---
CHID1	66005	broad.mit.edu	37	11	902239	902239	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:902239C>A	uc001lsl.2	-	4	514	c.353G>T	c.(352-354)CGT>CTT	p.R118L	CHID1_uc010qwu.1_Missense_Mutation_p.R148L|CHID1_uc010qwv.1_Missense_Mutation_p.R179L|CHID1_uc001lsn.2_Missense_Mutation_p.R143L|CHID1_uc001lsm.2_Missense_Mutation_p.R118L|CHID1_uc001lso.2_Missense_Mutation_p.R118L|CHID1_uc001lsp.2_Missense_Mutation_p.R118L|CHID1_uc010qww.1_Missense_Mutation_p.R118L	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1 isoform a	118					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)														---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	A	A	rs12366766		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132547087G>A	uc001ujn.2	+	46	8210	c.8175G>A	c.(8173-8175)CAG>CAA	p.Q2725Q	EP400_uc001ujl.2_Silent_p.Q2724Q|EP400_uc001ujm.2_Silent_p.Q2644Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Poly-Gln.|Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)														---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	G	G	rs28513925	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132547093A>G	uc001ujn.2	+	46	8216	c.8181A>G	c.(8179-8181)CAA>CAG	p.Q2727Q	EP400_uc001ujl.2_Silent_p.Q2726Q|EP400_uc001ujm.2_Silent_p.Q2646Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Poly-Gln.|Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)														---	---	---	---
DHRS4	10901	broad.mit.edu	37	14	24424420	24424420	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24424420C>T	uc001wla.2	+	2	338	c.305C>T	c.(304-306)ACG>ATG	p.T102M	C14orf167_uc001wkz.2_5'Flank|C14orf167_uc001wky.2_5'Flank|C14orf167_uc001wkx.2_5'Flank|C14orf167_uc010akx.1_5'Flank|DHRS4_uc010aky.2_Missense_Mutation_p.T102M|DHRS4_uc001wlb.2_Missense_Mutation_p.T102M|DHRS4_uc010akz.2_Missense_Mutation_p.T102M|DHRS4_uc001wlc.3_Missense_Mutation_p.T102M|DHRS4L2_uc001wld.3_Missense_Mutation_p.T102M|DHRS4L2_uc001wle.3_Missense_Mutation_p.T102M	NM_021004	NP_066284	Q9BTZ2	DHRS4_HUMAN	peroxisomal short-chain alcohol dehydrogenase	102				T -> M (in Ref. 1; AAD02292).		mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)													---	---	---	---
TTLL5	23093	broad.mit.edu	37	14	76241900	76241900	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:76241900G>A	uc001xrx.2	+	22	2415	c.2210G>A	c.(2209-2211)CGA>CAA	p.R737Q	TTLL5_uc010ask.1_Missense_Mutation_p.R751Q|TTLL5_uc001xrz.2_Missense_Mutation_p.R312Q|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	737					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)														---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63084979	63084979	+	Missense_Mutation	SNP	C	T	T	rs140861754	byFrequency	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63084979C>T	uc002alb.3	+	43	5876	c.5876C>T	c.(5875-5877)ACG>ATG	p.T1959M	TLN2_uc002alc.3_Missense_Mutation_p.T352M	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1959					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---
CDH1	999	broad.mit.edu	37	16	68844172	68844172	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68844172G>T	uc002ewg.1	+	6	884	c.760G>T	c.(760-762)GAT>TAT	p.D254Y	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.D254Y	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	254	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.D254fs*9(1)|p.D254H(1)|p.D254Y(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)				Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				---	---	---	---
CLEC18C	283971	broad.mit.edu	37	16	70211380	70211380	+	Intron	SNP	G	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70211380G>A	uc002exy.2	+						CLEC18C_uc010vlt.1_Silent_p.T151T|CLEC18C_uc002eyk.2_Silent_p.T151T	NM_182619	NP_872425			secretory protein LOC348174 precursor							extracellular region	sugar binding				0																		---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578542	7578542	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578542G>A	uc002gim.2	-	5	582	c.388C>T	c.(388-390)CTC>TTC	p.L130F	TP53_uc002gig.1_Missense_Mutation_p.L130F|TP53_uc002gih.2_Missense_Mutation_p.L130F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.L130F|TP53_uc010cni.1_Missense_Mutation_p.L130F|TP53_uc002gij.2_Missense_Mutation_p.L130F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.L37F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.L91F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	130	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		L -> H (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L130V(11)|p.L130F(7)|p.L130R(7)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.L130L(4)|p.L130H(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(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)			---	---	---	---
SPAG5	10615	broad.mit.edu	37	17	26905534	26905534	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26905534C>T	uc002hbq.2	-	21	3303	c.3211G>A	c.(3211-3213)GAG>AAG	p.E1071K	ALDOC_uc002hbp.2_5'Flank|ALDOC_uc010cro.2_5'Flank	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1071	Potential.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)																	---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8628583	8628583	+	Silent	SNP	G	T	T			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:8628583G>T	uc002wnb.2	+	6	504	c.501G>T	c.(499-501)GGG>GGT	p.G167G	PLCB1_uc010zrb.1_Silent_p.G66G|PLCB1_uc010gbv.1_Silent_p.G167G|PLCB1_uc002wmz.1_Silent_p.G167G|PLCB1_uc002wna.2_Silent_p.G167G|PLCB1_uc002wnc.1_Silent_p.G66G	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	167					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12																		---	---	---	---
NRIP1	8204	broad.mit.edu	37	21	16339654	16339654	+	Missense_Mutation	SNP	G	A	A	rs150993445		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:16339654G>A	uc002yjx.2	-	4	1458	c.860C>T	c.(859-861)ACG>ATG	p.T287M		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	287	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)														---	---	---	---
GGT1	2678	broad.mit.edu	37	22	25011062	25011062	+	Missense_Mutation	SNP	C	G	G	rs138472970	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:25011062C>G	uc003aan.1	+	7	837	c.350C>G	c.(349-351)ACC>AGC	p.T117S	GGT1_uc003aas.1_Missense_Mutation_p.T117S|GGT1_uc003aat.1_Missense_Mutation_p.T117S|GGT1_uc003aau.1_Missense_Mutation_p.T117S|GGT1_uc003aav.1_Missense_Mutation_p.T117S|GGT1_uc003aaw.1_Missense_Mutation_p.T117S|GGT1_uc003aax.1_Missense_Mutation_p.T117S	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	117	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)													---	---	---	---
MAGEB1	4112	broad.mit.edu	37	X	30269600	30269600	+	Silent	SNP	G	T	T			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30269600G>T	uc004dcc.2	+	4	1310	c.990G>T	c.(988-990)ACG>ACT	p.T330T	MAGEB1_uc004dcd.2_Silent_p.T330T|MAGEB1_uc004dce.2_Silent_p.T330T	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	330											0																		---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77268465	77268465	+	Silent	SNP	C	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77268465C>A	uc004ecx.3	+	10	2422	c.2262C>A	c.(2260-2262)ACC>ACA	p.T754T		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	754	Helical; (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0																		---	---	---	---
PSD4	23550	broad.mit.edu	37	2	113955401	113955401	+	Silent	SNP	G	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113955401G>A	uc002tjc.2	+	14	2718	c.2535G>A	c.(2533-2535)TCG>TCA	p.S845S	PSD4_uc002tjd.2_Silent_p.S465S|PSD4_uc002tje.2_Silent_p.S815S|PSD4_uc002tjf.2_Silent_p.S466S|PSD4_uc002tjg.2_Silent_p.S11S|PSD4_uc010yxs.1_Silent_p.S75S|PSD4_uc002tjh.2_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	845	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
GPR155	151556	broad.mit.edu	37	2	175304637	175304637	+	Silent	SNP	G	C	C			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175304637G>C	uc002uit.2	-	16	2692	c.2301C>G	c.(2299-2301)GTC>GTG	p.V767V	GPR155_uc002uiu.2_Silent_p.V767V|GPR155_uc002uiv.2_Silent_p.V767V|GPR155_uc010fqs.2_Silent_p.V739V	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	767	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1																		---	---	---	---
SLC40A1	30061	broad.mit.edu	37	2	190426751	190426751	+	Silent	SNP	G	T	T			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190426751G>T	uc002uqp.3	-	8	1920	c.1569C>A	c.(1567-1569)CTC>CTA	p.L523L		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated	523	Helical; (Potential).				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)															---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140773225	140773225	+	Missense_Mutation	SNP	G	A	A	rs141295392	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140773225G>A	uc003lkd.1	+	1	1743	c.845G>A	c.(844-846)CGG>CAG	p.R282Q	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_uc003lkb.3_Missense_Mutation_p.R282Q	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	282	Cadherin 3.|Extracellular (Potential).				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)															---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89128953	89128953	+	Intron	SNP	G	C	C			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89128953G>C	uc003yeb.3	-						MMP16_uc003yec.2_Intron	NM_005941	NP_005932			matrix metalloproteinase 16 isoform 1						collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8																		---	---	---	---
AK3	50808	broad.mit.edu	37	9	4713048	4713048	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:4713048A>C	uc003ziq.1	-	5	752	c.612T>G	c.(610-612)ATT>ATG	p.I204M	AK3_uc003zip.1_RNA|AK3_uc011lma.1_Missense_Mutation_p.I164M|AK3_uc003zir.1_Missense_Mutation_p.I134M	NM_016282	NP_057366	Q9UIJ7	KAD3_HUMAN	adenylate kinase 3	204					blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity			ovary(2)	2	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)														---	---	---	---
LRRC8A	56262	broad.mit.edu	37	9	131670706	131670706	+	Silent	SNP	C	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131670706C>A	uc004bwl.3	+	3	1517	c.1263C>A	c.(1261-1263)ACC>ACA	p.T421T	LRRC8A_uc010myp.2_Silent_p.T421T|LRRC8A_uc010myq.2_Silent_p.T421T	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	421	LRR 2.				pre-B cell differentiation	integral to membrane					0																		---	---	---	---
MSRB2	22921	broad.mit.edu	37	10	23409793	23409793	+	3'UTR	SNP	C	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:23409793C>A	uc001iro.2	+	5						NM_012228	NP_036360			methionine sulfoxide reductase B2 precursor						protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0					L-Methionine(DB00134)													---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29759247	29759247	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29759247G>A	uc001iut.1	-	32	6554	c.5801C>T	c.(5800-5802)ACG>ATG	p.T1934M	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.T848M|SVIL_uc001iuu.1_Missense_Mutation_p.T1508M	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1934	Gelsolin-like 4.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)																---	---	---	---
DOCK1	1793	broad.mit.edu	37	10	128851029	128851029	+	Silent	SNP	G	T	T			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:128851029G>T	uc001ljt.2	+	22	2287	c.2223G>T	c.(2221-2223)GCG>GCT	p.A741A	DOCK1_uc010qun.1_Silent_p.A762A	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	741					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)														---	---	---	---
CHID1	66005	broad.mit.edu	37	11	902239	902239	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:902239C>A	uc001lsl.2	-	4	514	c.353G>T	c.(352-354)CGT>CTT	p.R118L	CHID1_uc010qwu.1_Missense_Mutation_p.R148L|CHID1_uc010qwv.1_Missense_Mutation_p.R179L|CHID1_uc001lsn.2_Missense_Mutation_p.R143L|CHID1_uc001lsm.2_Missense_Mutation_p.R118L|CHID1_uc001lso.2_Missense_Mutation_p.R118L|CHID1_uc001lsp.2_Missense_Mutation_p.R118L|CHID1_uc010qww.1_Missense_Mutation_p.R118L	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1 isoform a	118					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)														---	---	---	---
TTLL5	23093	broad.mit.edu	37	14	76241900	76241900	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:76241900G>A	uc001xrx.2	+	22	2415	c.2210G>A	c.(2209-2211)CGA>CAA	p.R737Q	TTLL5_uc010ask.1_Missense_Mutation_p.R751Q|TTLL5_uc001xrz.2_Missense_Mutation_p.R312Q|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	737					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)														---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63084979	63084979	+	Missense_Mutation	SNP	C	T	T	rs140861754	byFrequency	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63084979C>T	uc002alb.3	+	43	5876	c.5876C>T	c.(5875-5877)ACG>ATG	p.T1959M	TLN2_uc002alc.3_Missense_Mutation_p.T352M	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1959					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---
CDH1	999	broad.mit.edu	37	16	68844172	68844172	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68844172G>T	uc002ewg.1	+	6	884	c.760G>T	c.(760-762)GAT>TAT	p.D254Y	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.D254Y	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	254	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.D254fs*9(1)|p.D254H(1)|p.D254Y(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)				Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				---	---	---	---
TRPV1	7442	broad.mit.edu	37	17	3491580	3491580	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3491580C>A	uc010vrr.1	-	6	1653	c.1126G>T	c.(1126-1128)GGG>TGG	p.G376W	TRPV1_uc010vro.1_Missense_Mutation_p.G387W|TRPV1_uc010vrp.1_Intron|TRPV1_uc010vrq.1_Missense_Mutation_p.G374W|TRPV1_uc010vrs.1_Missense_Mutation_p.G376W|TRPV1_uc010vrt.1_Missense_Mutation_p.G376W|TRPV1_uc010vru.1_Missense_Mutation_p.G376W	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	376	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)													---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578542	7578542	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578542G>A	uc002gim.2	-	5	582	c.388C>T	c.(388-390)CTC>TTC	p.L130F	TP53_uc002gig.1_Missense_Mutation_p.L130F|TP53_uc002gih.2_Missense_Mutation_p.L130F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.L130F|TP53_uc010cni.1_Missense_Mutation_p.L130F|TP53_uc002gij.2_Missense_Mutation_p.L130F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.L37F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.L91F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	130	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		L -> H (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L130V(11)|p.L130F(7)|p.L130R(7)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.L130L(4)|p.L130H(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(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)			---	---	---	---
SPAG5	10615	broad.mit.edu	37	17	26905534	26905534	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26905534C>T	uc002hbq.2	-	21	3303	c.3211G>A	c.(3211-3213)GAG>AAG	p.E1071K	ALDOC_uc002hbp.2_5'Flank|ALDOC_uc010cro.2_5'Flank	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1071	Potential.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)																	---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8628583	8628583	+	Silent	SNP	G	T	T			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:8628583G>T	uc002wnb.2	+	6	504	c.501G>T	c.(499-501)GGG>GGT	p.G167G	PLCB1_uc010zrb.1_Silent_p.G66G|PLCB1_uc010gbv.1_Silent_p.G167G|PLCB1_uc002wmz.1_Silent_p.G167G|PLCB1_uc002wna.2_Silent_p.G167G|PLCB1_uc002wnc.1_Silent_p.G66G	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	167					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12																		---	---	---	---
NRIP1	8204	broad.mit.edu	37	21	16339654	16339654	+	Missense_Mutation	SNP	G	A	A	rs150993445		TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:16339654G>A	uc002yjx.2	-	4	1458	c.860C>T	c.(859-861)ACG>ATG	p.T287M		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	287	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)														---	---	---	---
GGT1	2678	broad.mit.edu	37	22	25011062	25011062	+	Missense_Mutation	SNP	C	G	G	rs138472970	by1000genomes	TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:25011062C>G	uc003aan.1	+	7	837	c.350C>G	c.(349-351)ACC>AGC	p.T117S	GGT1_uc003aas.1_Missense_Mutation_p.T117S|GGT1_uc003aat.1_Missense_Mutation_p.T117S|GGT1_uc003aau.1_Missense_Mutation_p.T117S|GGT1_uc003aav.1_Missense_Mutation_p.T117S|GGT1_uc003aaw.1_Missense_Mutation_p.T117S|GGT1_uc003aax.1_Missense_Mutation_p.T117S	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	117	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)													---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77268465	77268465	+	Silent	SNP	C	A	A			TCGA-BR-6803-01	TCGA-BR-6803-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77268465C>A	uc004ecx.3	+	10	2422	c.2262C>A	c.(2260-2262)ACC>ACA	p.T754T		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	754	Helical; (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0																		---	---	---	---
